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Admoninal Pain, Recurrent 

What is recurrent abdominal pain?

The most formal definition of recurrent abdominal pain, published almost 50 years ago, states that children have recurrent abdominal pain when there are at least three bouts of abdominal pain, which are severe enough to affect activities, over a period of three months. In reality, children are diagnosed with recurrent or chronic abdominal pain after a period of one or two months.

The pain may occur on a daily basis, or it may be intermittent. The pain may occur at any part of the abdomen, but, as a general rule, it is classified as upper abdominal (between the bottom of the breast bone and the belly button), around the belly button, or in the lower abdomen.

What causes abdominal pain?

Recurrent abdominal pain in children generally is categorized in one of three groups. The first group includes an obvious disease, i.e., there is a structural, biochemical, or other abnormality that is shown by examination or testing. Examples include, among others, peptic ulcer disease, inflammatory bowel disease, infections, gynecologic pathology, and kidney disease. As a group, these conditions generally are found in about 10% to 20% of children with recurrent abdominal pain. The second group includes "functional gastrointestinal disorders."

These disorders have a fairly standard set of symptoms, and, despite evaluation, no organic disease can be found. The two most common conditions are irritable bowel syndrome and functional dyspepsia. Children in the third group also have functional abdominal pain (no obvious disease can be found). However, their symptoms are not as readily describable as the symptoms associated with irritable bowel syndrome or functional dyspepsia. In children in the third group, "somatization" is often more prominent. Somatization is the process of experiencing and communicating physical distress and symptoms, which are not explained by physical findings, and excessively seeking medical care for the complaints.

Who gets recurrent abdominal pain?

Studies have shown that abdominal pain is a very common problem. Up to 75% of middle school and high school students have abdominal pain over the course of the year, with almost 1 in 5 having the pain on at least 6 occasions. From 15% to 25% of younger school age children also may complain of recurrent abdominal pain. Abdominal pain accounts for up to 5% of visits to pediatricians' offices.

How does recurrent abdominal pain cause disease

Doctors can find a specific organic disease as a cause of the symptoms associated with recurrent abdominal pain in about 10% to 20% of children. However, the majority of children with recurrent abdominal pain have no obvious disease. That is not to say that they do not have real symptoms. Indeed, it is rare to find children who fake symptoms. Nonetheless, the lack of obvious abnormalities on testing often leads to a sense of frustration and anxiety on the part of the child, the parents, and, occasionally, the care givers.

Although it is not known the exact way that symptoms are caused in irritable bowel syndrome and functional dyspepsia-two common causes of recurrent abdominal pain-there are several current theories. The most current theory is that in both of these conditions, there is "visceral hypersensitivity." This means that the intensity of the signals from the gastrointestinal system, which travel by nerves to the brain, seems to be exaggerated. This may occur following illnesses that cause inflammation in the intestine (e.g., viral gastroenteritis), or they may occur following psychologically traumatic events that "sensitize" the brain to stimuli.

These traumatic events may be as severe as physical or sexual abuse, or they may occur in the course of family life, such as marital discord. In most cases, however, no specific cause can be found. This visceral hypersensitivity is thought to lead to symptoms when the intestine undergoes peristalsis (motility or movement) or when it is distended by gas or stool. In some patients with functional dyspepsia, it is thought that even normal amounts of acid in the upper small intestine may cause discomfort.

What are the common findings?

Irritable bowel syndrome occurs in both children and adults. The symptoms include recurrent abdominal pain-usually around the belly button or the lower abdomen-that is associated with abnormalities in stooling. Lower abdominal symptoms may include constipation, diarrhea, or a variable pattern of defecation. Commonly, the pain is relieved by defecation. Patients often complain of a sense of rectal urgency, and they may have a sense of incomplete evacuation following a bowel movement. They often complain of bloating, dizziness, and, occasionally, nausea. Weight loss, fever, or blood in the stool is unusual in irritable bowel syndrome.

In functional dyspepsia, the discomfort is centered in the upper abdomen. This discomfort may be pain-like and occasionally burn. Alternatively, some individuals only complain of a sense of nausea or early fullness after eating. Another occasional cause of recurrent functional abdominal pain is an abdominal migraine. In this condition, children develop severe abdominal pain, often in the middle of the night or early morning. Occasionally, it is accompanied by vomiting, and there may be a history of headaches. In about one-third of the cases, there is a family history of migraine headaches. Additionally, in about one-third of the cases, the child will have a history of carsickness.

How is recurrent abdominal pain diagnosed?

Recurrent abdominal pain is diagnosed based on a patient's history and a physical examination. There are no specific tests to diagnose it. It is the responsibility of the clinician and the family to use a cost-sensitive approach to this problem. However, when there are accompanying warning signs of a more serious disease, further evaluation is recommended. The warning signs include the following:

  • Weight loss
  • Blood in the stool
  • Fever
  • Persistent vomiting
  • Arthritis
  • Certain types of rash
  • Growth retardation
  • Delayed pubertal development
  • Difficulty swallowing
  • Nighttime awakening from the pain
  • Family history of ulcer disease or inflammatory bowel disease (e.g., Crohn's disease, ulcerative colitis)

Depending upon the child's specific history and the physical findings, the physician may order screening blood work, including a complete blood count, erythrocyte sedimentation rate to look for inflammation in the body, serum chemistries, and, possibly, radiographic studies and an ultrasound. In the presence of diarrhea, a flexible sigmoidoscopy or a colonoscopy frequently is performed. In the presence of upper gastrointestinal symptoms, an upper endoscopy commonly is performed.

An additional diagnostic consideration for the symptoms is lactose intolerance. This condition is found in all ethnic groups, but it is more common in African-American, Latino, and Asian populations. It is diagnosed with a non-invasive procedure called a breath hydrogen test.

How is abdominal pain treated?

During the course of the evaluation, if a specific disease is found, then appropriate treatment is given. More often than not, the clinician will diagnose functional abdominal pain. If irritable bowel syndrome is diagnosed, reassurance is offered, and the patient and the family are informed that no serious or threatening disease exists. If there are specific triggering factors associated with the symptoms, such as school or family difficulties, then these issues need to be addressed.

If the child has diarrhea as a prominent symptom, then medications, such as dicyclomine or hyosycamine, which slow down bowel transit, occasionally are used. Low doses of medications, referred to as tricyclic antidepressants, also are used. However, these medications are not used as antidepressants; they are used to decrease the intensity of the pain signals coming from the gastrointestinal system to the brain. Dietary manipulation by increasing dietary fiber can be helpful.

Functional dyspepsia is treated with medications (e.g., ranitidine, cimetidine, omeprazole, and lansoprazole) that reduce the secretion of stomach acid. Low dose tricyclic antidepressants also may be used for severe functional dyspepsia. Patients can only be diagnosed as having functional dyspepsia after disease has been ruled out by an upper gastrointestinal endoscopy.

In cases of functional abdominal pain, where reassurance, diet, and medications do not help, a psychologist may help with biofeedback and pain control.

What are the complications?

The greatest complication of functional gastrointestinal disorders is that they are misunderstood, and the child is thought to have a serious illness. When that occurs, or when the symptoms are particularly severe, functional disability may occur. It is the responsibility of both the physician and the family to help the child to return to a normal schedule as soon as possible. While there should be no attempt to minimize the intensity of the symptoms, it also is important to not let the symptoms control the life of the child or the family.

How can abdominal pain be prevented?

Recurrent abdominal pain cannot be prevented. If the child has recurrent abdominal pain that is caused by a specific organic disease, then that disease needs to be treated. Certain diseases tend to run in families, such as peptic ulcer disease (which is caused by an infectious agent, Helicobacter pylori) and inflammatory bowel disease. Functional gastrointestinal disorders, especially irritable bowel syndrome, also may run in families; however, these disorders are so common that it is difficult to determine a particular mode of inheritance.

What research is being done?

Irritable bowel syndrome and functional dyspepsia are extremely common causes of chronic gastrointestinal symptoms in adults; therefore, the pharmaceutical industry has an aggressive research program that is focused on finding better treatments.

Links to other information

The International Foundation for Functional Gastrointestinal Disorders, located in Milwaukee, Wisconsin, may provide an excellent source of further information on irritable bowel syndrome.

About the Author

Dr. Hyams is the Head of Digestive Diseases and Nutrition at the Connecticut Children's Medical Center in Hartford, Connecticut, and a Professor of Pediatrics at the University of Connecticut School of Medicine.

Dr. Hyams is an accomplished clinician and investigator, and he has a special interest in functional gastrointestinal disorders in children and adolescents.

Copyright 2012 Jeffrey Hyams, M.D., All Rights Reserved

Acne 

What is acne?

Acne is the most common skin disorder seen in the United States today. It is most commonly associated with whiteheads, blackheads, and pustules (small bumps under the skin containing pus); although, severe acne patients also experience tender red nodules and acne cysts.

What causes acne?

Prior to and during puberty, increased hormones cause an over-production of oil, which then plugs the oil glands, called sebaceous glands. These glands are most prominent on the face, chest, shoulders, and back-the most common areas of acne lesions. Poor diet or dirt does not cause acne. However, a well-balanced diet and proper washing make acne treatment more successful.

A number of other factors also contribute to acne. Stress and emotions can make acne worse. Conversely, acne can create stress. Oil-based soaps, lotions, cosmetics, and hair products cause increased plugging of the oil glands, and can make acne worse. Certain medications, such as epilepsy drugs, steroids, anti-tuberculosis medications, and some antidepressant medications, can cause acne or make it worse.

Who gets acne?

Derived from the Greek word akme, meaning "peak of life," and the Latin word acme, meaning "prime of life," acne is most prominent during adolescence. However, 40% of children aged 8 to 10 years begin to experience acne, and up to 10% of individuals in their midlife years continue to struggle with acne lesions. There appears to be a familial or hereditary tendency; if one or both parents had acne, it is more likely that their children will also have the disorder. Although it is more common in males, females seek medical help more often.

How does acne cause disease?

Acne appears on the skin in the form of blackheads and whiteheads ("comedones"), as well as pustules, nodules, and cysts-the result of the bacteria, Propionibacterium acnes, that cause inflammation of the oil glands. Although the bacteria do not cause serious illness, the psychological effects of acne and resultant scars can be devastating. Advances in acne treatment offer successful management. Therefore, acne should never be dismissed as a minor condition that will be outgrown.

What are the common findings of acne?

There are two types of acne: comedonal acne, which appears as whiteheads and blackheads, and inflammatory acne, which includes pustules, nodules, and cysts. Generally, acne begins as whiteheads and blackheads that progress to inflammatory acne. Most adolescents have a combination of comedonal acne and inflammatory acne, consisting of whiteheads, blackheads, and pustules. Cystic acne is the most severe type of acne and requires intensive treatment.

How is acne diagnosed?

Although acne is easily recognized, a thorough history is important in treating this disorder properly. The duration of acne, past treatment, and products used (including soaps, lotions, and cosmetics) are helpful in developing an appropriate and effective treatment plan. Family history, medical history, and current medications also are very important. It is usually not necessary to perform laboratory tests to diagnose acne, unless a hormonal abnormality is suspected.

How is acne treated?

Acne treatment and management take weeks to months to see improvement. Patience and compliance are crucial.

Goals of treatment include decreasing oil production; opening the plugged oil glands; reducing the bacteria, Propionibacterium acnes; and eliminating or reducing scarring. Mild soaps and lotions are recommended. Gentle washing in the morning and at bedtime to remove cosmetics and debris is essential. Buff puffs and grainy soaps cause additional irritation and should be avoided. Moisturizers, make-up, and hair products should be water based.

Squeezing and picking acne lesions cause irritation and injure the underlying tissue, resulting in scarring, and should be avoided unless performed by a health care professional.

Topical agents, called keratolytics, relieve plugging of the oil glands. Over-the-counter preparations, such as Benzoyl peroxide and salicylic acid, are beneficial for mild comedonal acne. Applied twice daily after washing, results are usually seen within six to eight weeks. Consult your health care provider if results are not satisfactory. Prescription medications, such as Retin A, Differin, and Azelex, may be used once daily after washing. These medications are applied to the entire area, not just to the acne lesions.

Topical antibiotics also may be prescribed in combination with a keratolytic agent. These antibiotics reduce bacteria on the skin and control inflammation. They are beneficial for comedonal and inflammatory acne treatment, as well as for maintenance after control has been achieved with oral antibiotics. They are applied once daily to the entire area after washing. The most common topical antibiotics include Erythromycin, Clindamycin, and Sulfonamides. It is important to advise your health care provider if you have had an allergic reaction to any of these medications in the past.

Oral antibiotics reduce the bacteria, Propionibacterium acnes. They are used in combination with topical medications for more severe inflammatory acne. Common oral antibiotics are Erythromycin, Doxycycline, Tetracycline, and Minocycline. They must be taken for three to four weeks to begin to see improvement, and treatment often lasts several months.

For severe cystic acne, Accutane may be prescribed. This vitamin A derivative is taken orally for four to five months. The response rate is as high as 90%, with most patients experiencing prolonged remissions. Careful monthly follow-up by a dermatologist during treatment is required.

Oral contraceptives have proven helpful in some females with inflammatory acne, either alone or in combination with other acne treatment.

What are the complications?

Scarring and pigment change result from squeezing acne lesions. These can be treated by a dermatologist or plastic surgeon with dermabrasion, chemical peels, or laser resurfacing. These procedures are costly, and they are not covered by most insurance plans. Therefore, picking at acne lesions should be avoided.

Cystic acne can cause thickened scars called keloids. These are unsightly and often painful. Keloids can be treated with steroid injections, or they can be surgically removed by a dermatologist or plastic surgeon after acne treatment is completed.

Benzoyl peroxide, keratolytics, and some topical antibiotics cause dryness and redness in the areas of application. Applying a water-based lotion or moisturizer (that is non-acne causing) can relieve these side effects.

Some keratolytics and oral antibiotics cause sensitivity to the sun. Therefore, sun exposure should be limited, and sunscreens should be used daily.

Accutane causes dry skin, mucous membrane irritation, sun sensitivity, and elevated triglycerides. It should be used in combination with appropriate moisturizers and sunscreens. Close follow-up with a health care professional and monitoring of triglyceride levels are necessary during treatment. Accutane can cause birth defects and miscarriages, and pregnant women should not take it.

How can acne be prevented?

Currently, acne cannot be prevented. However, proper treatment and home compliance offer successful management and remission of this frustrating disorder. Acne is not contagious, and it should not be allowed to take over one's life. Psychological support and encouragement aid in treatment and promote well being.

References

Buttaro, T., Trybulski, J., Bailey, P., Sandberg-Cook, J.: Primary Care: A Collaborative Practice, ed. 1, St. Louis, 1999, Mosby, Inc.

Hurwitz, S.: Clinical Pediatric Dermatology, ed. 2., Philadelphia, 1993, W.B. Saunders Company

Weston, W.L., Lane, A.T., and Morrelli, J.G.: Color Textbook of Pediatric Dermatology, ed. 2, St. Louis, 1996, Mosby, Inc.

About the Author

Dr. Capin received her medical education and completed her dermatology residency at the University of Colorado. A Fellow of the American Academy of Dermatology, she is board certified in Dermatology.

She has been in practice at the Aurora/Parker Skin Care Center for twelve years, and recently opened CARA MIA Medical Day Spa in Parker, Colorado.

She enjoys teaching, and often has students with her during office hours. She is experienced in medical and surgical dermatology, as well as cosmetic dermatology. She is often asked to participate in conferences, and speaks internationally.

Peggy Vernon received her nurse practitioner education at the University of Colorado and is a certified Pediatric Nurse Practitioner. In addition, she holds a Master in Counseling from the University of Northern Colorado.

She is on the Clinical Faculty at Regis University and Associate Faculty at the University of Colorado in the Masters Nurse Practitioner programs. Her special interests are pediatric dermatology, patient education, and research. She speaks nationally on various dermatology topics.

Copyright 2012 Leslie Capin, M.D., All Rights Reserved

Acute Lymphoblastic Leukemia 

What is leukemia?

Leukemia is a cancer of the blood cells that begins in the bone marrow or the lymph glands where the blood cells are made. Bone marrow occupies the center of all bones, especially bones of the pelvis, the lower spine, and the thighs. Lymph nodes are all over the body, but they usually are too small to feel.

Like all cancers, leukemia is caused by uncontrolled cell division and growth. There are "signals" and "switches" within the genetic material and proteins of each cell of the body that strictly control whether the cells start or stop dividing to make more cells. For example, when a finger is cut, these "signals" and "switches" tell the skin cells to regrow just enough to replace the area of damaged skin and then to stop, without forming big lumps of skin.

Leukemia usually develops in the white blood cells that normally circulate through the blood stream and the lymph nodes to defend the body against infection. Leukemia begins in one cell whose "signals" and "switches" have stopped working correctly. This one abnormal cell divides into two abnormal cells, which divide into more and more abnormal cells. These leukemia cells eventually fill up the bone marrow space, thereby crowding out normal bone marrow cells and spreading into the blood stream and the lymph nodes. As a result, the cells that carry oxygen (red blood cells), the cells that help clot blood (platelets), and the normal white cells that fight infection are reduced greatly in number.

What is acute lymphoblastic leukemia?

Acute lymphoblastic leukemia is the most common leukemia and cancer of childhood. The word "acute" refers to the fact that patients diagnosed with this leukemia in the early 20th century survived for only a short time. The word "lymphoblastic" refers to the type of white cell that has become cancer. Normal lymphoblasts mature over days to weeks into lymphocytes that defend against infection. Lymphoblasts of leukemia cannot mature or fight infection.

What causes acute lymphoblastic leukemia?

The cause of this type of leukemia is unknown; therefore, it cannot be prevented at the present time. Several changes that occur in a normal lymphocyte over a period of time probably turn it into a leukemic cell. For some cases of acute lymphoblastic leukemia, the first change occurs in fetal life before birth.

Exposure to electrical power lines, toxic chemicals, radon, or radiation has not been proven to cause this leukemia. Although a specific virus causes leukemia in cats, viruses do not appear to cause acute lymphoblastic leukemia in children. This type of leukemia does not appear to be inherited because it very rarely occurs in more than one child per family.

Who gets acute lymphoblastic leukemia?

Acute lymphoblastic leukemia is rare. Its incidence is fairly similar worldwide. In the United States, about 3,000 children are diagnosed with this disease each year. For children between infancy and 15 years, acute lymphoblastic leukemia occurs yearly in 1 child among every 25,000 children. For patients aged 2 to 6 years, acute lymphoblastic leukemia occurs yearly in 1 child among every 5,000 to 10,000 children. Although very rare, even newborns and adults can develop acute lymphoblastic leukemia. In the United States, acute lymphoblastic leukemia is much less common among African Americans than Caucasians; however, the reason for this difference is unclear.

What are the common symptoms at diagnosis?

The symptoms of acute lymphoblastic leukemia often mimic more common illnesses of childhood. These symptoms are related to reduced numbers of normal bone marrow and blood cells. Patients develop anemia because of low numbers of the red blood cells; they often appear pale with fast heart rates, and, sometimes, they feel lightheaded and tire out easily. Patients with acute lymphoblastic leukemia often bruise more easily and get more nosebleeds because the cells that clot blood (platelets) are low in number. Patients often have several weeks of unexplained fever before acute lymphoblastic leukemia is diagnosed. Sometimes, these fevers are because of infections; other times, they are because of the leukemia itself. About 25% of patients experience bone pain for days to weeks before the diagnosis, especially in the pelvis, the spine, and the legs. About 50% of patients develop swollen lymph nodes in the neck, under the armpits, or in the groin. The liver and the spleen, usually tucked beneath the right and left lower rib cage in the abdomen, can enlarge and become painful as leukemic cells fill the many blood vessels within these organs. Occasionally, a boy's testicles swell as leukemic cells invade them. The lymph nodes deep within the chest may become swollen with leukemic cells, causing a child to breathe faster and harder than normal.

How is acute lymphoblastic leukemia diagnosed?

The symptoms described above will prompt a physician to draw the child's blood for a complete blood count (CBC). Often, this CBC shows that the number of red blood cells, and/or platelets, and/or type of white cell called "neutrophils" is low. The total number of white cells in the CBC may range from very low to very high. The lymphoblasts may be recognized on the blood smear when viewed in the laboratory under the microscope.

The final diagnosis of acute lymphoblastic leukemia is made by a bone marrow examination. The bone marrow procedure entails placing a needle into the pelvic bone a few inches to the right or left of the spine and a few inches above the buttocks. This needle goes through the skin, the muscle, and the bone, and into the bone marrow space. From here, liquid bone marrow, filled with leukemic cells, is aspirated into an attached syringe. The bone marrow aspiration procedure is painful; a child usually is sedated and given pain medicine during the procedure.

Children with symptoms similar to those of patients with leukemia may have a different diagnosis. In those cases, the CBC is either completely normal or has abnormalities of only one blood cell type. Certain viral infections, joint diseases, or other blood diseases can mimic the symptoms of leukemia. Occasionally, children with acute lymphoblastic leukemia have symptoms of fever and bone or joint pain and a completely normal CBC. In such cases, the diagnosis is uncertain until the bone marrow aspiration shows the leukemia.

How is acute lymphoblastic leukemia treated?

If untreated, acute lymphoblastic leukemia is a fatal disease. However, with modern day treatment, the majority of children with acute lymphoblastic leukemia are cured. Since the 1960s, many children with acute lymphoblastic leukemia and other cancers have participated in randomized clinical trials sponsored by national cooperative organizations, such as the Children's Cancer Group and the Pediatric Oncology Group. Major progress in the treatment of childhood cancers has been made because of the research efforts of these groups.

Children with leukemia are treated by pediatric oncologists and nurses in specialized facilities; patients and families usually are supported by social workers and child life specialists.

The medicines used to treat leukemia and other cancers are called chemotherapy. Chemotherapy drugs can be taken by mouth or injected into the blood stream through a vein, into soft tissue, or into muscle. Because leukemic cells tend to "hide out" in the lining of the brain and the spine, specific chemotherapy is injected into the spinal fluid by a procedure called a lumbar puncture. This procedure involves inserting a small needle into a space between two vertebrae of the lower spine, removing some spinal fluid, and injecting chemotherapy into the spinal fluid space. This procedure usually is performed with topical anesthetic and sedation.

Some of the chemotherapy drugs originally came from products of nature, such as the periwinkle and may apple plant or the bark of the yew tree, or from microorganisms, such as fungus. Other chemotherapy drugs were designed in laboratories. The first chemotherapy drug was developed in the late 1940s. Before that time, patients with acute lymphoblastic leukemia did not survive; all of them died of infection or bleeding within several months of diagnosis.

Treatment of acute lymphoblastic leukemia has evolved during the past 40 years; today, a child may receive up to 15 different chemotherapy drugs during a 2- to 3-year period. Occasionally, radiation therapy is given to the brain. After the first month of treatment, the child is usually in "remission"; 99% of the leukemia cells have been killed, and the CBC and the bone marrow look normal. During the next 2 to 3 years of treatment, chemotherapy attempts to kill the remaining 1% of leukemic cells, which are heartier than those initially killed.

For at least 70% of children, the leukemia never reappears, and these children grow up normally. If the leukemia recurs, it is called a "relapse" and is found in the blood and the bone marrow, the spinal fluid, or the testicles. A relapse can occur any time after remission, but it usually is between 18 months and 5 years after the initial diagnosis. A CBC is performed frequently, along with a physical exam, throughout the course of treatment and for many years thereafter to document continued remission or to diagnose a relapse. About 50% of patients who relapse can be cured with either bone marrow transplantation or several more years of intensive therapy.

What are the complications?

Most patients require treatment with antibiotics and transfusions of red blood cells and platelets at diagnosis and during treatment. Once a child is in remission, complications of treatment are from side effects of chemotherapy and not from the leukemia itself. Chemotherapy drugs circulate throughout the entire blood stream and affect normal cells, especially those cells that are dividing rapidly. One common side effect is hair loss, which usually grows back after the first year of treatment. Some side effects can be prevented; most of them are reversible. Occasionally, a child in remission dies from a complication of treatment, usually an overwhelming infection.

What research is being done?

Randomized clinical trials that aim to improve the cure rate of leukemia are being conducted by the Children's Oncology Group in most children's hospitals in the United States and Canada. Research on leukemic cells is being carried out in many laboratories throughout the world. The purpose of this research is to develop new strategies to treat leukemia; to determine what changes occur in a cell to cause leukemia; and, ultimately, to prevent a child from developing leukemia.

Links to other information

For more information on acute lymphoblastic leukemia, log on to the following Web sites:

References

Lilleyman JS. Childhood Leukemia: The Facts. Oxford, England: Oxford University Press; 1994.

Laszlo J. The Cure of Childhood Leukemia: Into the Age of Miracles. New Brunswick, NJ: Rutgers University Press; 1995.

Albano EA, Stork LC, Greffe BS, Odom LF, Foreman NK. Neoplastic disease. In: Hay W, Hayward A, eds. Current Pediatric Diagnosis and Treatment. Stanford, CT: Appleton & Lange; 1999:774-777.

About the Author

Dr. Stork is an associate professor of pediatrics at the University of Colorado Health Sciences Center and The Children's Hospital in Denver. She earned her undergraduate degree from Yale University and her medical degree from Columbia University. Dr. Stork is actively involved in clinical trials that treat children with acute lymphoblastic leukemia.

Copyright 2012 Linda C. Stork, M.D., All Rights Reserved

Acute Otitis Media 

What is acute otitis media?

Acute otitis media is an infection of the middle ear, generally caused by bacteria. In acute otitis media (i.e., an ear infection or an infection of the middle ear), pus and infected fluid accumulate in the middle ear space.

The tympanic membrane (eardrum) appears inflamed, reddened, and often protrudes outward. Usually, an ear infection begins after the eustachian tube (a small tube connecting the back of the nose to the middle ear space) has become swollen, congested, and closed, most commonly resulting from an ongoing viral respiratory infection.

Acute otitis media should not be confused with: 1) external otitis ("swimmer's ear")-a painful bacterial infection of the superficial skin of the ear canal, or 2) otitis media with effusion (secretory otitis or "fluid ears")-an accumulation of non-inflamed fluid behind the eardrum. Otitis media with effusion is not considered infected, and most doctors do not treat it with antibiotics. This uninfected fluid in the middle ear is a remnant in 50% to 60% of resolved ear infections. It is frequently a mild complication of colds, respiratory illnesses, or nasal allergies.

What causes acute otitis media?

Acute otitis media usually is caused by one of four bacteria:

  1. Streptococcus pneumoniae (pneumococcus) in 30% to 45% of cases.
  2. Haemophilus influenzae (Haemophilus-but not the Haemophilus strain in the HIB or meningitis vaccine) in 20% to 30% of cases.
  3. Moraxella catarrhalis (Moraxella; sometimes called Branhamella catarrhalis) in approximately 10% of cases.
  4. Group A Streptococcus (like the strep bacteria of strep throat) in 5% of thecases.

The pneumococcus bacteria is now the most difficult to treat. Some strains have become very resistant to antibiotics by using their unique ability to transform their genes and cell wall into a bacterial form, which is resistant to most of the antibiotics that commonly are used to treat ear infections. These resistant strains frequently are cultured from children who do not respond to several courses of antibiotics. When a child has an ear infection that does not respond to antibiotics, resistant pneumococcus bacteria may cause it.

Pneumococcus has 90 different types, which are all genetically related; however, 7 types account for the majority of ear infections in childhood and nearly all of the antibiotic resistant strains. In addition, pneumococcus is the leading cause of meningitis, bloodstream infections, and serious pneumonia in children, sometimes as a result of a preceding ear infection.

Up to half of Haemophilus and nearly all Moraxella bacteria produce an enzyme (beta-lactamase), which makes these bacteria resistant to some of the commonly used antibiotics. This enzyme may destroy many antibiotics when they come in contact with the bacteria. Nonetheless, several available antibiotics are still quite effective against these strains.

Viruses play a critical role in the development of acute otitis media by enabling the bacteria to travel into the middle ear (see below). By themselves, though, viruses account for only 6% to 10% of ear infections.

How does it cause disease?

As long as air entering from the back of the nose is able to reach the middle ear space via the eustachian tube, the middle ear rarely becomes infected. The eustachian tube in younger children is flimsy and easily collapses. As the child grows, the cartilage tissue surrounding the eustachian tube becomes stiffer, longer, and more angulated inside the skull.

Pneumococcus, Haemophilus, and Moraxella commonly reside in the back of the nose, and do not infect the child. Once a child becomes infected with a respiratory virus, it not only causes congestion of the nose and the lungs, but also of the eustachian tube. When this tube becomes clogged, the cells in the middle ear space produce a fluid-like substance, which allows bacteria to grow and infect the middle ear space. A virus infection precedes up to 90% of cases of acute otitis media.

Respiratory virus infections also trigger ear infections by upsetting the body's normal defenses in the nose and the eustachian tube, and allowing certain normal bacteria that reside in the nose to "stick" better to the lining of the nose and the eustachian tube. Certain viruses, such as the flu (influenza) and RSV (a respiratory syncytial virus, or the "bronchiolitis bug"), are more frequently associated with ear infections. Occasionally, the child's nose becomes colonized by a new aggressive strain of bacteria, which rapidly invades the middle ear. Unfortunately, more exposures (e.g., via daycare attendance) to viruses and new strains of bacteria increase the likelihood of ear infections.

How common is acute otitis media?

Acute otitis media is predominantly an infection of young children, primarily occurring in the first three years of life. Children in the 1990s experience 30% more episodes of acute otitis media as compared with children in the 1970s, probably as a consequence of high rates of day care. Currently, acute otitis media accounts for one-fourth of all pediatric office visits in the first three years.

Nearly 94% of children will experience at least one ear infection in the first three years of life, with an average of about three episodes in the first and second years, and one and one-half episodes in the third year. As many as 5% to 8% of children will undergo the placement of ventilating tubes in their first 24 months of life. Much of this is related to the high rate of daycare attendance in the United States, with increased exposure to infectious agents.

Who gets an ear infection?

At the highest risk for ear infections include those children who:

  • are male;
  • are of the white, American Indian, or Eskimo races;
  • attend daycare;
  • have Downs syndrome;
  • are immunocompromised;
  • have a strong family history of otitis media;
  • were not breastfed during the first 12 months of life; and/or
  • reside in a smoking household.

Children with a cleft palate or HIV have particularly severe problems with recurrent ear infections.

Age affects the rate of acute otitis media, with a dramatic decline in frequency in children older than three years. However, some children with a history of ventilating tubes or frequent recurrent otitis media, severe allergies, or large adenoids may still be plagued with ear problems.

Is an ear infection contagious?

To some degree, the bacteria that cause ear infections are contagious because they may colonize, or set up residence, in the nose of children or close contacts. However, only a small proportion of children colonized with a new strain of bacteria will develop an ear infection. For example, in the case of pneumococcus, only about 15% of children colonized in the nose with a new strain of it will develop an ear infection, and usually only within the first month. Also, some bacterial strains appear more aggressive than others and will directly invade the middle ear.

What may be even more important than new bacterial colonization is the spread of respiratory viruses, particularly among children in daycare and pre-schools. Respiratory viruses are very contagious in close quarters. They frequently make a child more susceptible to an ear infection by upsetting the normal balance between the child's local nose immunity and the co-inhabitant bacteria. When the child's defenses are down, or the eustachian tube becomes clogged, the bacteria tend to infect the middle ear.

How do you know if your child has an ear infection?

Children with an ear infection display a wide range of symptoms, from none at all, to a high fever, to a screaming earache. Many infants and toddlers with an ear infection show less obvious symptoms, such as sleeplessness, irritability, decreased feeding, or a fever. Ear pain and ear tugging are helpful clues, but are fairly unreliable. Even in older children with a respiratory illness, mild to moderate ear complaints and earaches frequently occur in children with normal ears. In these children, a sore throat often causes the ear complaints. Fever occurs in only one-fourth of ear infections, and it does not signify an ear infection.

One of the more reliable indicators of an ear infection in younger children is when a child, who has had a cold and a runny nose for three to seven days, suddenly develops sleeplessness and inconsolability during the night, along with increasing fussiness throughout the day. Children with a persistent ear infection who have recently received antibiotics often show few symptoms.

Antibiotics should not be prescribed over the phone for a presumed ear infection, without an examination by a physician. Only a careful examination of the eardrum by a doctor can determine whether the ear is truly infected. Often, when the child is brought into the office in the early phase of a cold or a mild respiratory infection, the eardrum will be normal, only to become infected several days after the office visit. If the child has only a mild cough and a runny nose, it is best to wait at least five to seven days into the illness before making an office visit.

The new EarCheckTM (acoustic reflectometry instrument) may help parents to determine whether a young child is getting an ear infection. If a previously healthy child, who now has an illness, develops an abnormal reading on the instrument, parents can assume a 70% chance of fluid behind the eardrum. It will not distinguish between infected or uninfected fluid. More importantly, if the readings are normal and the child's symptoms are mild, parents can assume that it is very unlikely that the child has an ear infection, and an office visit may be avoided.

What does the eardrum look like when it is infected?

When a doctor examines the eardrum through the otoscope instrument, the eardrum normally appears as a thin gray, translucent membrane (like wax paper). When infected, it will look opacified (cloudy), very reddened, and yellowish. Sometimes, it shows a small layer of pus-like material. During an infection, the eardrum usually becomes rigid because of the accumulation of fluid, and it will not wiggle when the doctor puffs a small amount of air against the eardrum with an otoscope. Use of tympanometry or acoustic reflectometry (i.e., the EarCheck instrument) may help to determine if there is fluid behind the eardrum. Neither instrument distinguishes between infected or uninfected fluid.

From the appearance of the eardrum, the doctor cannot determine the type of bacteria, or whether bacteria or viruses are causing the infection. The eardrum in children with otitis media with effusion appears as an orangish or dull, straw-colored fluid, and it also does not move when air is applied to it.

How is an ear infection treated?

The intense ear pain of acute otitis media can be partially relieved by adequate doses of ibuprofen or acetaminophen. For more severe earaches, some doctors may prescribe codeine. Numbing eardrops provide minimal relief, and only for a short time. A warm washcloth or sweet oil (olive oil) directly instilled in the ear canal may temporarily distract from the child's ear pain.

Nearly all doctors in the United States believe that acute otitis media should be treated with antibiotics by mouth, particularly if the child has symptoms. Antibiotics generally provide prompt and dramatic relief of the ear pain. Oral antibiotics for acute otitis media are safe and effective, with exceedingly rare serious side effects.

In a few European countries, ear infections are not treated in children older than two years, unless symptoms persist for more than 48 hours. A few U.S. physicians recommend this same tactic.

Most experts in the United States are concerned about the tendency for pneumococcus in an ear infection to cause more serious infections. When pneumococcus causes an ear infection, if left untreated, it will persist in the ear of 80% of children for up to a week. However, most episodes of acute otitis media will resolve on their own from 3 to 10 days. Yet, non-treatment may be dangerous, not only because of the risk of serious pneumococcus infections, but also because of the possibility of other serious complications. Furthermore, few parents are willing to watch a child suffer with an earache, a fever, and crying for several days.

Amoxicillin (the "pink ink") is the drug of choice for initial ear infections, except in the penicillin allergic child. In an attempt to enhance the effectiveness of this inexpensive and safe antibiotic, many doctors are now prescribing amoxicillin twice a day and in double the daily standard dose. Effectiveness for initial therapy with most antibiotics approaches 70% to 80%. There are other antibiotics to treat children who do not respond to amoxicillin or who never seem to respond to initial amoxicillin therapy.

Children who do not respond after two or more standard courses of antibiotics can be expected to respond to another antibiotic only about 50% to 60% of the time. Most children who fail antibiotic therapy are younger than 24 months, have poor eustachian tube function, and tend to be infected with more resistant bacteria. At this point, the easy-to-treat bacteria usually have been eliminated. The persistent bacteria are the most resistant strains of the three most common ear bacteria. The emergence of more resistant strains is outpacing the development of new effective drugs. A child's doctor should be relied upon to select the most effective second-line antibiotic choices.

The new "one-shot" (ceftriaxone) for acute otitis media also is effective for simple cases of acute otitis media. However, "the shot" should only be used in select children, such as those with vomiting and diarrhea, very cantankerous toddlers, or children with an associated moderately serious illness. Three daily doses of ceftriaxone also may be very effective in children who have failed three to four consecutive courses of antibiotics, and are destined for tube placement.

The Centers for Disease Control (CDC) has convincingly pointed out that antibiotic overuse is one of the major culprits for the increasing antibiotic resistance problem. Parents should not insist on an antibiotic prescription for fevers, minor colds, and respiratory illnesses.

Physicians almost never know which bacteria they are treating. Thus, the CDC and other otitis experts advocate the use of tympanocentesis (lancing the ear or ear tap) for children who have failed antibiotic therapy.

Tympanocentesis:

relieves instantly the pain of the child with a crying earache; enables the physician to culture the bacteria and to select the best antibiotic for the infection; and allows the ear infection (like an abscess) to drain, which may improve the healing process.

The procedure can be performed nearly pain free. Only physicians who have been trained in the procedure perform it.

No medication is currently available to treat viruses that precipitate ear infections, either before or during the illness. An exception is the flu virus. Anti-flu medications and the flu vaccine could help prevent some wintertime ear infections, but only for the small number of children with ear infections related to the flu.

What are the complications?

The most serious complications secondary to ear infections are mastoiditis (infection of the skull bone behind the ear) and meningitis (infection of the lining of the brain). Both are extremely rare.

Chronic draining ears and chronic perforations (holes in the eardrum) are uncommon, but occur more frequently as a result of resistant pneumococcus. However, these complications are commonly seen in developing countries where antibiotics are not readily available. Permanent hearing loss from very severe recurrent infections is a major concern, but is still rarely observed with effective antibiotic therapy. Children with an ear infection (even ones that rupture and drain) suffer only some temporary, low grade hearing loss. As the fluid resolves, which may take months, the hearing returns to baseline levels.

Your child's doctor may work with an ear-nose-and-throat doctor to help treat the more severely afflicted child, or one who has suspected chronic hearing loss. Children with chronic fluid persisting for more than four months, or with more than five or six ear infections in a year, may require the insertion of "tubes." This is most important during the first two years of life when hearing is critical for speech and language development. Chronic ear infections may aggravate learning and later school problems, but cause and effect on this issue remains speculative.

Severe complications from ear infections nearly have been eliminated, and there is an array of antibiotics to treat them; however, the rate of highly resistant bacteria infecting children has increased. Physicians cannot continue to wastefully prescribe antibiotics, and parents should not demand them to treat everyday colds and viral infections. Although the new Prevnar vaccine may prevent many strains of highly resistant pneumococcus, with continual antibiotic misuse, microbiologic history will repeat itself in other pneumococcal strains or in other bacteria.

How can an ear infection be prevented?

The simplest preventive measures include the following:

  • Breastfeed an infant during the first 12 months of life
  • For bottle-fed infants, never prop the bottle and wean off the bottle by 12 months
  • Do not smoke around the baby, particularly in the household or the car
  • Do not smoke during pregnancy
  • Consider a private sitter or a smaller daycare, instead of a high volume daycare
  • Avoid the introduction of solid foods in the first four months of life
  • Administer the flu vaccine annually after six months of age
  • Consider allergen avoidance and allergy shots in older children (over three years) with chronic fluid
  • Administer Prevnar vaccine to infants less than 24 months of age

More controversial preventive measures include the following:

  • Avoid the pacifier
  • Give the pneumococcal vaccine (Prevnar) to infants and children older than 24 months who are unvaccinated with Prevnar and still getting recurrent ear infections

Ineffective measures include the following:

  • Covering a child's head with a hat during the winter
  • Using decongestants and antihistamines to "prevent" ear infections
  • Chiropractic manipulation
  • Herbal remedies

What research is being done?

The most important recent development to potentially reduce the frequency of ear infections is a new pneumococcal conjugate vaccine. A study from Northern California suggests that this vaccine could prevent about 7% of overall episodes of ear infections, and up to 23% of recurrent ear infections.

The new pneumococcal vaccine contains 7 of 90 types of pneumococcus, which are the most common and the most resistant bacteria. Elimination of these resistant types could have an impact on the number of antibiotic failures in children. This also could mean a reduction in the placement of tubes, possibly by one-fourth, as observed in the California study.

This vaccine is administered to infants at 2, 4, 6, and 12 months of age. Side effects have been minimal, and it has been a very safe vaccine. It uses the same technology as the universally administered HIB vaccine.

ome new antibiotics are about to undergo testing in children with acute otitis media. In preliminary testing, these drugs appear to work against the resistant pneumococcus.

In the future, there may be alternate ways of treating or preventing ear infections. A new antibiotic may be able to penetrate the eardrum directly by instilling eardrops. A nasal spray squirted in the nose of infants a few times a day may prevent the common bacteria of acute otitis media from gaining access to the nose. Some Scandinavian investigators have shown slight reduction in the number of ear infections in children who regularly used an experimental sugar called xylitol.

About the Author

Dr. Block is a full-time practicing pediatrician in rural Bardstown, Kentucky who serves on the clinical faculties at both the University of Kentucky and the University of Louisville as an Associate Clinical Professor of Pediatrics.

His pediatric practice is one of the leading pediatric research groups in the United States and, in fact, Dr. Block was awarded the American Academy of Pediatrics 1998 Practitioner Research Award.

He has authored and published over 20 articles and 40 abstracts on pediatric infectious diseases. He has also lectured on Otitis Media extensively to pediatricians and other physicians throughout the U.S. and Canada.

Copyright 2012 Stan L. Block, M.D., All Rights Reserved

Acute Strep Throat 

What is Strep Throat?

Streptococcal pharyngitis ("strep throat") is one of the most common bacterial infections in children. Although there are over 20 types of streptococci, the group A strain is the most frequently encountered as a cause of sore throat. The changes of acute strep throat are confined to the tonsils, back of the throat, and the draining lymph nodes in the front of the neck. Changes in the infected tissues reflect an inflammation which produces redness, swelling, and pus on the surface of the tonsils and back of the throat.

Blisters and ulcers are uncommon. In infants, the nose is more typically involved in the infection as opposed to the throat. Infection may be transferred from the back of the throat or the nose to the skin, causing facial impetigo. Localized extension of strep may occur to adjacent cites to include the sinuses, the middle ear (acute ear infection), the epiglottis, and regional lymph nodes. Further extension may lead to meningitis in rare cases.

What causes sore throats?

The largest proportion of children (15-40%) and adolescents (30-60%) with sore throat have a viral infection. About 8-30% of children and 5-9% of teenagers with fever and throat inflammation have a strep infection. Other bacteria infrequently cause throat infection. Particularly among teenagers, the differential diagnosis includes other species of streptococci (group C and group G) and even the possibility of gonococci (gonorrhea germ) causing a sore throat. Other bacteria include Mycoplasma pneumoniae, Chlamydia pneumoniae and Arcanobacterium haemolyticum as causes of symptomatic sore throat.

In developing countries, diphtheria remains a cause of sore throat. Very often sore throats are of unknown course and this may represent viruses which at present cannot be identified, post nasal drip, allergy, etc.

Who gets strep throat?

Strep throat infections are spread person-to-person. Humans are the natural reservoir of this bacteria. The nose and back of the throat are the main sources of carriage of this bacteria. The skin and feces are potential sites. Aerosolized upper respiratory mucus serves as the primary source of the strep germ spreading to others. Direct contact with infected nose and throat tissues (by kissing) is of less importance as is contact with contaminated objects, such as toothbrushes.

Spread of strep throat requires the presence of a susceptible child and is facilitated by close contact.

Acquisition of infection is rare in infancy due to mothers' immunity conferred transplacentally. Infection is uncommon below the age of two years. When infection occurs during the toddler years, it most often involves the nose. Children in day care and grade school more frequently contract and spread strep throat. Teenagers and adults usually have had contacts with the bacteria over time to provide immunity, thereby rendering strep uncommon in these age groups.

How does strep cause disease?

Strep produces a self-limited localized inflammation of the throat, generally lasting 3-5 days. Antibiotic treatment, if prompt and appropriate, reduces the duration of symptoms, shortens the period of contagion and reduces the risk of localized spread and complications. A major objective of administering antibiotics is to prevent heumatic fever and possibly reduce the occurrence of post-strep kidney damage.

Common findings

Strep throat cannot be accurately diagnosed on the basis of history and examination in most patients. Classically, strep throat patients have fever, redness and swelling of the throat with pus on the tonsils and back of the throat. Swollen and tender lymph nodes in the front of the neck typically occur. It is quite unusual for a patient with strep throat to also have a runny nose and a cough. Strep throat occurs most commonly in mid-winter to early spring. If all of the typical history and symptoms of strep throat are present, then the likelihood of strep approaches 60-70% in children and 20-30% in teenagers.

How do you diagnose strep throat?

In 1954, the first reports of using a throat culture in an office setting initiated an era of office based laboratory diagnosis for pediatricians and family doctors. The use of a throat culture to confirm the presence of strep throat has become a common practice and has grown steadily such that by the early 1980's the Centers for Disease Control estimated that between 28-36 million throat cultures were performed annually in the United States. The value of this simple laboratory test in avoiding unnecessary antibiotics and in identifying children and teenagers requiring treatment is considerable.

Rapid strep detection tests came into wide use in the 1990's. These tests can be performed quickly at a cost that is comparable to a 10 days supply of penicillin. These tests, if properly performed, have the same reliability as a throat culture.

Treatment

Treatment should relieve the symptoms of acute strep throat, eliminate transmission and prevent complications. Ideally, the chosen antibiotic should be easy to administer free of side effects and affordable. None of the antibiotics used in the treatment of strep throat achieves all of these goals in all infected patients-including penicillin which is the gold standard of therapy. In considering treatment of strep throat, the physician is faced with a large number of generic and brand name antibiotics with wide ranges of effectiveness, side effects and costs.

Strep germs are highly susceptible to penicillin, amoxicillin, Augmentin, and the cephalosporins (Keflex, Duracef, Ceclor, Lorabid, Cefzil, Ceftin, Vantin, Omnicef and Cedax). 90-95% of strep strains are susceptible to erythromycin, Biaxin, Zithromax and Cleocin. Ten days of oral penicillin and erythromycin are necessary to achieve a maximum cure of strep throat. However, completion of 10 days therapy is often problematic as parents and teenagers forget to administer or take the antibiotic as symptoms improve over the first few day of treatment.

A five day course of therapy with several cephalosporins has been shown to produce a similar or superior cure compared with 10 days of oral penicillin. The cephalosporins tested for five days include Duracef, Ceftin, Vantin and Omnicef. Zithromax may be administered for five days because the antibiotic persists in the throat tissues for five days after discontinuation of the drug.

What are the complications of strep throat?

The main concern with strep throat relates to the development of acute rheumatic fever. This is an infection of the heart valves which leads to permanent heart valve damage with the possibility of progression to heart failure. Strep throat also causes kidney damage if not prevented by use of antibiotics. The kidney damage of the filtering system can lead to both acute kidney failure and chronic kidney problems. Of course, strep can also spread to tissues in the upper airways (for example, deep throat infections and infections of the draining lymph nodes at the front of the neck. Extension from the throat to the brain rarely occurs thereby producing meningitis or brain abscess.

How do you prevent strep complications?

Antibiotics, if promptly initiated, will prevent virtually all of the complications of strep. Rheumatic fever can be prevented if antibiotic therapy is begun within 9 days of the onset of first symptoms.

What research is being done?

New antibiotics are usually tested for their effectiveness in the treatment of strep throat and antibiotics which can be administered for shorter durations of time do represent the possibility of a treatment advance because of the tendency for everyone to prefer shorter treatment durations for a complete cure. Vaccines for the prevention of strep throat have now reached clinical studies in humans. The difficulty in development of an effective vaccine for strep throat has been the diversity of strep strains.

About the Author

Dr. Michael E. Pichichero is currently a Professor of Microbiology and Immunology, Pediatrics and Medicine at the University of Rochester in Rochester, NY.

A graduate of the University of Rochester School of Medicine, Dr. Pichichero completed his postgraduate pediatric residency at the University of Colorado in Denver, followed by a Chief Residency and two fellowships resulting in board certification in Pediatrics, in Adult and Pediatric Allergy and Immunology and in Pediatric Infectious Disease.

Dr. Pichichero is a partner in the Elmwood Pediatric Group where he continues to practice in primary care and as a subspecialist consultant.

A recipient of numerous awards and a member of most professional societies in his fields of interest, Mike has over 300 publications in infectious diseases, immunology, and allergy.

His major practice and research interests are in vaccine development, streptococcal infections, and otitis media: in each of these areas he is a prominent international authority.

Reviewed 11/4/2010

Copyright 2012 Michael E. Pichichero, M.D., All Rights Reserved

Addison 

What is Addison's disease?

Addison's disease is a condition where the adrenal glands fail to secrete the normal amounts of two hormones-cortisol and aldosterone. These hormones are vital to maintain the balance of salt, blood sugar, and blood pressure in an individual. An English physician, Thomas Addison, first described this disease almost 150 years ago.

What causes Addison's disease?

When Thomas Addison first described it, the disease primarily was caused by a tuberculosis infection that resulted from consuming the milk of tuberculous cows. In modern times, the cause of Addison's disease is the production of antibodies against the adrenal glands for reasons unknown. It is known that "autoimmune" diseases of the endocrine glands can run in families, and more than one gland can be involved. Thus, individuals with Addison's disease may have problems with their thyroid glands, or they may develop diabetes.

Who gets Addison's disease?

This condition is sporadic. That is, although Addison's disease may run in families, there is no clear mechanism of inheritance. Infected milk or any other contaminated food no longer causes the disease.

How does it cause disease?

The two major hormones of the adrenal gland-cortisol and aldosterone-are extremely important in regulating the balance of salts and blood sugar in the body. In addition, cortisol is a very important hormone in maintaining a normal blood pressure and a normal reaction to physical stresses, such as infections, surgeries, or trauma. The absence of these hormones during times of physical stresses can lead to shock; a serious metabolic imbalance; and, if not treated rapidly, death

What are the common findings?

In the untreated state, Addison's disease may be accompanied by weakness, weight loss from decreased appetite, nausea and vomiting, and salt craving. Low blood pressure and metabolic imbalance also may result in a decreased level of consciousness or a coma. Addison's disease is rare in childhood, but children who are affected with it may not have a normal growth pattern.

A hormone that darkens the skin often is elevated in untreated Addison's disease. Thus, a person with this condition may show a tanning of the skin out of proportion to sunlight exposure, and without a tan line. There also may be darkening in the creases of the palms, soles, and fingers; along the gum line; and on the nipples.

How is Addison's disease diagnosed?

Aside from the clinical signs and the signs found upon physical examination, including low blood pressure, a diagnosis of Addison's disease is usually made using laboratory tests. Typically, a patient has low blood sodium, high potassium (occasionally to life-threatening levels), and low blood sugar. The antibodies against the adrenal glands also can be measured; however, this test is just to confirm the diagnosis, since the results may not be available for many days.

How is Addison's disease treated?

Fortunately, Addison's disease is treatable with oral forms of the missing hormones. Cortisol is available in tablet form, and it is given 2 to 3 times a day. Aldosterone is not available, but a substitute drug, Florinef, is available in tablet form, and it is given 1 to 2 times daily. In emergencies, such as physical stresses (e.g., a fever of over 101 degrees or trauma), the daily dose of cortisol is tripled.

If the patient has an illness that is accompanied by vomiting, an intramuscular injection of cortisol (Solu-Cortef) must be given at home. Then, the patient must be taken to an emergency room for further treatment. All patients or their parents must have a dose of Solu-Cortef at home and be instructed on the proper technique to administer it.

What are the complications?

The complications of untreated Addison's disease include cardiovascular collapse, coma, and death.

How is Addison's disease prevented?

Since there is no clear cause for the development of the antibodies against the adrenal glands, Addison's disease cannot be prevented at this time.

What research is being done?

Research is being conducted to clarify the relationship between Addison's disease and other autoimmune diseases of the endocrine glands and other organs. Early recognition and treatment of this condition, especially during physical stresses, are key in preventing the complications caused by Addison's disease.

References

Gotlin RW, Kappy MS, Slover RH, et al. Endocrine disorders. In: Hay WW, Jr., et al. Current pediatric diagnosis and treatment. 14th ed. Stamford, CT: Appleton and Lange, 1999:841-3.

About the Author 

Dr. Kappy is a professor of pediatrics at the University of Colorado Health Sciences Center and the Chief of the Pediatric Endocrinology Department at The Children's Hospital in Denver, Colorado.

He was a recipient of the Johns Hopkins University Distinguished Alumnus Award in 1996. His research interest include the treatment of precocious puberty and the effects of growth hormone in growth hormone-deficient individuals.

Copyright 2012 Michael S. Kappy, M.D., Ph.D., All Rights Reserved

AIDS/HIV 

What is HIV/AIDS?

Acquired immunodeficiency syndrome (AIDS) is a condition in which the immune system has lost the ability to defend the body against infection and certain cancers. It is caused by infection with human immunodeficiency virus (HIV).

What causes HIV/AIDS?

The cause of AIDS is infection with HIV. HIV is a member of the family of viruses called retroviruses. This type of virus enters human cells and becomes incorporated into the cell's genes (i.e., DNA). Once the infection has occurred, the body cannot rid itself of the virus. The effect of the virus on the immune system leads to AIDS.

Who gets HIV/AIDS?

HIV/AIDS affects people of all ages and racial/ethnic backgrounds. Usually, infants and children acquire the infection from the mother during pregnancy, delivery, or breastfeeding. The most common mode of transmission for teens and adults is sexual contact. Currently, the largest number of HIV-infected people lives in Africa, India, and Southeast Asia. In the United States, homosexual men and injecting drug users have the highest prevalence of infection. However, adolescents and women, particularly those of African-American and Hispanic background, have the highest rates of new infections.

Casual, classroom, or household contact with an HIV-infected person poses no risk. Transmission cannot occur from sharing dishes, towels, or bathroom facilities. Saliva, urine, and stool are not contagious unless there is visible blood in the fluid.

HIV is transmitted through contact with infected semen or cervical secretions. People who have sexual contact with an infected person are at risk of acquiring the infection. The virus can be transmitted by both heterosexual and homosexual contact. Men and women, adults and teenagers can become infected with HIV.

HIV is transmitted from mother to infant during pregnancy, delivery, and breastfeeding. An infected woman who does not receive treatment during pregnancy has a 25% to 30% chance of passing the virus on to her baby. With treatment, the chance of having an infected baby can be reduced to 1%.

HIV is transmitted through contact with infected blood or body fluids contaminated with visible blood. Donated blood is screened for HIV so there is almost no risk of an infection from blood transfusion products. However, people who use injection drugs sometimes share their injection equipment. If an HIV-infected person shares a needle or other injection equipment, the virus can be transmitted to the other people. A health care professional who is exposed to blood from an infected person has a risk of being infected with HIV. This risk is greatest when a contaminated sharp instrument penetrates the skin. There also is a small risk of infection when blood splashes into the eye or the mouth of the worker. There is no risk of infection with blood contact to intact skin (i.e., skin without cuts, scratches, or a rash). Under usual circumstances, there is no risk of transmission of HIV from a health care professional to a patient. However, all people should handle blood and bloody body secretions carefully.

How does HIV cause disease?

HIV infection, without treatment, causes a progressive dysfunction of the immune system. When the immune system is defective, the body cannot defend itself against infections. HIV infects immune cells that are critical components of the immune system, particularly helper T lymphocytes (T4 cells). When the cells are infected with HIV, they do not function normally, and some cells are destroyed.

What are the common findings?

Teens and adults may have symptoms in the first two to six weeks after the initial infection with HIV (acute primary infection). The most common symptoms of the primary infection are fever, fatigue, muscle aches, headache, sore throat, and swollen lymph nodes (glands in the neck, under the arms, and in the groin). These symptoms are not specific to HIV infection since many viral infections cause similar symptoms. Some other symptoms more particular to primary HIV infection are mouth ulcers, a rash, and meningitis. However, even these symptoms do not prove HIV infection because they can occur with other infections. Some people have no symptoms after the acute infection. The symptoms of the primary infection resolve without treatment. Most people do not seek medical attention, and they are not aware that they have acquired HIV.

After the primary infection, most people infected with HIV have no symptoms in the early stages of the disease. For adults and adolescents, progression of the disease usually occurs several years after the primary infection. About 30% of infants infected at birth will have disease progression within 12 to 18 months of life.

When the disease progresses, common first symptoms include enlargement of the lymph nodes, liver, and/or spleen; poor growth; frequent minor infections, such as ear infections and sinusitis; cold sores that do not heal; thrush or diaper rash that persists despite treatment; shingles; night sweats; and recurrent fever. When the disease reaches advanced stages, most patients have weight loss; infections of the lungs, blood stream, bones, joints, intestines, and eyes; and certain cancers. Some people develop neurologic symptoms manifested by developmental delay in children and by memory loss and dementia in teens and adults.

How is HIV/AIDS diagnosed?

The most commonly used diagnostic test for HIV infection detects antibodies to HIV in the blood. The body makes antibodies as a part of the immune defense against infections. If antibodies against HIV are present (a "positive" test), this indicates that the person is infected with HIV. This is why infected people are called "HIV positive."

The antibody test is done in two parts. The first part is called an ELISA. Occasionally, a person will test positive on an ELISA even though they are not HIV infected. Therefore, a positive ELISA test must have a confirmatory test done on the same blood sample showing that the antibodies are truly specific for HIV. A negative ELISA indicates that the person is not infected and usually does not require a follow-up test.

In some patients, antibody tests are not reliable. In this case, tests that directly detect the virus are used. The most commonly used tests detect the virus genetic material (DNA or RNA) or protein (p24 antigen) in the blood. Virus tests are used to diagnose HIV infection in infants born to HIV-infected mothers. Antibody tests on the baby are not reliable until after 18 months of age because all mothers will pass antibodies to their babies, but not all mothers will pass the virus. In order to determine if the infant is infected, tests to detect the virus in the baby's blood are performed. The majority of infected infants will have the virus detected by three to four months of life. Uninfected infants will have negative tests for the virus (even though their antibody test is positive).

Direct virus testing also is used for adults and teenagers who may have been recently exposed to HIV. The virus tests are positive about 10 to 14 days before the antibody tests are positive. Using the direct virus test permits an earlier diagnosis of infection.

How is the HIV infection treated?

Recently, many new medications have been developed to treat HIV infection. These medications are called anti-retroviral drugs, and they inhibit the replication or reproduction of the virus. Effective treatment requires a combination of several different anti-retroviral medications, taken by mouth, one to three times a day. The amount of virus in the blood and the number of helper T cells are monitored closely to determine whether the medications are effective. Although there is no cure for HIV/AIDS, with effective treatment, infected people may live for years without disease progression.

What are the complications?

The complications of HIV infection are primarily related to immune dysfunction. Immune dysfunction leads to infection with other bacteria, viruses, or fungi. Medications can be taken daily or weekly to prevent these infections. In some patients, HIV causes abnormal function of the heart, bone marrow, brain, muscles, intestines, liver, and pancreas.

How is HIV prevented?

The most important method to prevent HIV infection is to avoid exposure by sexual contact. Abstinence is the only certain way to avoid sexual exposure to HIV. The risk of transmission can be greatly reduced by the correct use of condoms during sexual contact. Individuals who do have sexual contact should limit their number of partners and use condoms correctly every time they have sexual contact.

Sharing contaminated needles can transmit HIV. Injection drug users should not share injection equipment. Children should be taught to avoid contact with other people's blood. They also should avoid sharing sharp personal objects (e.g., razors, body-piercing equipment), which may be contaminated by blood and have not been properly sterilized. When caring for a bleeding wound, a thick layer of paper or cloth should be used to reduce the chances of contact with the blood.

Over 95% of infections passed from mother to infant can be prevented if the mother and infant receive treatment during pregnancy, labor, and the first weeks after birth. All women should be offered testing for HIV during pregnancy so they can receive the preventative treatments if they are HIV positive.

What research is being done?

Research on the treatment and prevention of HIV infection is very active. The areas of most intense interest are the development of a vaccine to prevent infection, the development of improved anti-retroviral medications, and studies to understand how the body's immune defenses against HIV infection can be enhanced.

Links to other information

http://www.fxbcenter.org/

Sponsor: The Francois-Xavier Bagnoud Center, University of Medicine and Dentistry of New Jersey, The National Pediatric and Family HIV Resource Center (NPHRC). This Web site includes extensive information about HIV that is related to children and youth.

http://www.kidsconnect.org/porch/

This Web site includes information about HIV that is written at a child's level.

http://hivinsite.ucsf.edu/

This Web site includes information about HIV that is both focused on youth and written in youth-friendly terms.

About the Author

Dr. McFarland is the medical director and co-founder of the Children's Hospital Immunodeficiency Program (CHIP) in Denver, CO. CHIP provides comprehensive health care to infants, children, adolescents, young adults and pregnant women infected or affected by HIV.

Dr. McFarland is a member of the National Institutes of Health sponsored Pediatric AIDS Clinical Trial Group and is active in basic and clinical HIV research. She is board certified in Pediatric Infectious Diseases and a faculty member at the University of Colorado Health Sciences Center.

She received her MD degree from Duke University School of Medicine and her pediatric and subspecialty training from the University of Colorado Health Sciences Center.

Copyright 2012 Elizabeth J. McFarland, M.D., All Rights Reserved

Anxiety 

What is Anxiety Disorder?

Anxiety is a normal reaction to stress and can actually be beneficial in some situations. For some people, however, anxiety can become excessive. While the person suffering may realize their anxiety is too much, they may also have difficulty controlling it and it may negatively affect their day-to-day living. There are a wide variety of anxiety disorders, including post-traumatic stress disorder, obsessive-compulsive disorder, and panic disorder to name a few. Collectively, they are among the most common mental disorders experienced by Americans.

The following anxiety disorders are discussed on this website:

  • generalized anxiety disorder (GAD)
  • obsessive-compulsive disorder (OCD),
  • panic disorder,
  • post-traumatic stress disorder (PTSD), and
  • social phobia (or social anxiety disorder).

Causes

NIMH supports research into the causes, diagnosis, prevention, and treatment of anxiety disorders and other mental illnesses. Scientists are looking at what role genes play in the development of these disorders and are also investigating the effects of environmental factors such as pollution, physical and psychological stress, and diet. In addition, studies are being conducted on the “natural history” (what course the illness takes without treatment) of a variety of individual anxiety disorders, combinations of anxiety disorders, and anxiety disorders that are accompanied by other mental illnesses such as depression.

Scientists currently think that, like heart disease and type 1 diabetes, mental illnesses are complex and probably result from a combination of genetic, environmental, psychological, and developmental factors. For instance, although NIMH-sponsored studies of twins and families suggest that genetics play a role in the development of some anxiety disorders, problems such as PTSD are triggered by trauma. Genetic studies may help explain why some people exposed to trauma develop PTSD and others do not.

Several parts of the brain are key actors in the production of fear and anxiety. Using brain imaging technology and neurochemical techniques, scientists have discovered that the amygdala and the hippocampus play significant roles in most anxiety disorders.

The amygdala is an almond-shaped structure deep in the brain that is believed to be a communications hub between the parts of the brain that process incoming sensory signals and the parts that interpret these signals. It can alert the rest of the brain that a threat is present and trigger a fear or anxiety response. The emotional memories stored in the central part of the amygdala may play a role in anxiety disorders involving very distinct fears, such as fears of dogs, spiders, or flying.

The hippocampus is the part of the brain that encodes threatening events into memories. Studies have shown that the hippocampus appears to be smaller in some people who were victims of child abuse or who served in military combat. Research will determine what causes this reduction in size and what role it plays in the flashbacks, deficits in explicit memory, and fragmented memories of the traumatic event that are common in PTSD.

By learning more about how the brain creates fear and anxiety, scientists may be able to devise better treatments for anxiety disorders. For example, if specific neurotransmitters are found to play an important role in fear, drugs may be developed that will block them and decrease fear responses; if enough is learned about how the brain generates new cells throughout the lifecycle, it may be possible to stimulate the growth of new neurons in the hippocampus in people with PTSD.

Current research at NIMH on anxiety disorders includes studies that address how well medication and behavioral therapies work in the treatment of OCD, and the safety and effectiveness of medications for children and adolescents who have a combination of anxiety disorders and attention deficit hyperactivity disorder.

Signs & Symptoms

Unlike the relatively mild, brief anxiety caused by a stressful event (such as speaking in public or a first date), anxiety disorders last at least 6 months and can get worse if they are not treated. Each anxiety disorder has different symptoms, but all the symptoms cluster around excessive, irrational fear and dread.

Anxiety disorders commonly occur along with other mental or physical illnesses, including alcohol or substance abuse, which may mask anxiety symptoms or make them worse. In some cases, these other illnesses need to be treated before a person will respond to treatment for the anxiety disorder.

Effective therapies for anxiety disorders are available, and research is uncovering new treatments that can help most people with anxiety disorders lead productive, fulfilling lives. If you think you have an anxiety disorder, you should seek information and treatment right away.

Who Is At Risk?

Anxiety disorders affect about 40 million American adults age 18 years and older (about 18%) in a given year, causing them to be filled with fearfulness and uncertainty.

Women are 60% more likely than men to experience an anxiety disorder over their lifetime. Non-Hispanic blacks are 20% less likely, and Hispanics are 30% less likely, than non-Hispanic whites to experience an anxiety disorder during their lifetime.

A large, national survey of adolescent mental health reported that about 8 percent of teens ages 13–18 have an anxiety disorder, with symptoms commonly emerging around age 6. However, of these teens, only 18 percent received mental health care.

Diagnosis

A doctor must conduct a careful diagnostic evaluation to determine whether a person’s symptoms are caused by an anxiety disorder or a physical problem. If an anxiety disorder is diagnosed, the type of disorder or the combination of disorders that are present must be identified, as well as any coexisting conditions, such as depression or substance abuse. Sometimes alcoholism, depression, or other coexisting conditions have such a strong effect on the individual that treating the anxiety disorder must wait until the coexisting conditions are brought under control.

Treatments

In general, anxiety disorders are treated with medication, specific types of psychotherapy, or both. Treatment choices depend on the problem and the person’s preference.

People with anxiety disorders who have already received treatment should tell their current doctor about that treatment in detail. If they received medication, they should tell their doctor what medication was used, what the dosage was at the beginning of treatment, whether the dosage was increased or decreased while they were under treatment, what side effects occurred, and whether the treatment helped them become less anxious. If they received psychotherapy, they should describe the type of therapy, how often they attended sessions, and whether the therapy was useful.

Often people believe that they have “failed” at treatment or that the treatment didn’t work for them when, in fact, it was not given for an adequate length of time or was administered incorrectly. Sometimes people must try several different treatments or combinations of treatment before they find the one that works for them.

Medication

Medication will not cure anxiety disorders, but it can keep them under control while the person receives psychotherapy. Medication must be prescribed by physicians, usually psychiatrists, who can either offer psychotherapy themselves or work as a team with psychologists, social workers, or counselors who provide psychotherapy. The principal medications used for anxiety disorders are antidepressants, anti-anxiety drugs, and beta-blockers to control some of the physical symptoms. With proper treatment, many people with anxiety disorders can lead normal, fulfilling lives.

Antidepressants

Antidepressants were developed to treat depression but are also effective for anxiety disorders. Although these medications begin to alter brain chemistry after the very first dose, their full effect requires a series of changes to occur; it is usually about 4 to 6 weeks before symptoms start to fade. It is important to continue taking these medications long enough to let them work.

SSRIs

Some of the newest antidepressants are called selective serotonin reuptake inhibitors, or SSRIs. SSRIs alter the levels of the neurotransmitter serotonin in the brain, which, like other neurotransmitters, helps brain cells communicate with one another.

Fluoxetine (Prozac®), sertraline (Zoloft®), escitalopram (Lexapro®), paroxetine (Paxil®), and citalopram (Celexa®) are some of the SSRIs commonly prescribed for panic disorder, OCD, PTSD, and social phobia. SSRIs are also used to treat panic disorder when it occurs in combination with OCD, social phobia, or depression. Venlafaxine (Effexor®), a drug closely related to the SSRIs, is used to treat GAD. These medications are started at low doses and gradually increased until they have a beneficial effect.

SSRIs have fewer side effects than older antidepressants, but they sometimes produce slight nausea or jitters when people first start to take them. These symptoms fade with time. Some people also experience sexual dysfunction with SSRIs, which may be helped by adjusting the dosage or switching to another SSRI.

Tricyclics

Tricyclics are older than SSRIs and work as well as SSRIs for anxiety disorders other than OCD. They are also started at low doses that are gradually increased. They sometimes cause dizziness, drowsiness, dry mouth, and weight gain, which can usually be corrected by changing the dosage or switching to another tricyclic medication.

Tricyclics include imipramine (Tofranil®), which is prescribed for panic disorder and GAD, and clomipramine (Anafranil®), which is the only tricyclic antidepressant useful for treating OCD.

MAOIs

Monoamine oxidase inhibitors (MAOIs) are the oldest class of antidepressant medications. The MAOIs most commonly prescribed for anxiety disorders are phenelzine (Nardil®), followed by tranylcypromine (Parnate®), and isocarboxazid (Marplan®), which are useful in treating panic disorder and social phobia. People who take MAOIs cannot eat a variety of foods and beverages (including cheese and red wine) that contain tyramine or take certain medications, including some types of birth control pills, pain relievers (such as Advil®, Motrin®, or Tylenol®), cold and allergy medications, and herbal supplements; these substances can interact with MAOIs to cause dangerous increases in blood pressure. The development of a new MAOI skin patch may help lessen these risks. MAOIs can also react with SSRIs to produce a serious condition called “serotonin syndrome,” which can cause confusion, hallucinations, increased sweating, muscle stiffness, seizures, changes in blood pressure or heart rhythm, and other potentially life-threatening conditions.

Anti-Anxiety Drugs

High-potency benzodiazepines combat anxiety and have few side effects other than drowsiness. Because people can get used to them and may need higher and higher doses to get the same effect, benzodiazepines are generally prescribed for short periods of time, especially for people who have abused drugs or alcohol and who become dependent on medication easily. One exception to this rule is people with panic disorder, who can take benzodiazepines for up to a year without harm.

Clonazepam (Klonopin®) is used for social phobia and GAD, lorazepam (Ativan®) is helpful for panic disorder, and alprazolam (Xanax®) is useful for both panic disorder and GAD.

Some people experience withdrawal symptoms if they stop taking benzodiazepines abruptly instead of tapering off, and anxiety can return once the medication is stopped. These potential problems have led some physicians to shy away from using these drugs or to use them in inadequate doses.

Buspirone (Buspar®), an azapirone, is a newer anti-anxiety medication used to treat GAD. Possible side effects include dizziness, headaches, and nausea. Unlike benzodiazepines, buspirone must be taken consistently for at least 2 weeks to achieve an anti-anxiety effect.

Beta-Blockers

Beta-blockers, such as propranolol (Inderal®), which is used to treat heart conditions, can prevent the physical symptoms that accompany certain anxiety disorders, particularly social phobia. When a feared situation can be predicted (such as giving a speech), a doctor may prescribe a beta-blocker to keep physical symptoms of anxiety under control.

Taking Medications

Before taking medication for an anxiety disorder:

  • Ask your doctor to tell you about the effects and side effects of the drug.
  • Tell your doctor about any alternative therapies or over-the-counter medications you are using.
  • Ask your doctor when and how the medication should be stopped. Some drugs can’t be stopped abruptly but must be tapered off slowly under a doctor’s supervision.
  • Work with your doctor to determine which medication is right for you and what dosage is best.
  • Be aware that some medications are effective only if they are taken regularly and that symptoms may recur if the medication is stopped.

Psychotherapy

Psychotherapy involves talking with a trained mental health professional, such as a psychiatrist, psychologist, social worker, or counselor, to discover what caused an anxiety disorder and how to deal with its symptoms.

Cognitive-Behavioral Therapy

Cognitive-behavioral therapy (CBT) is very useful in treating anxiety disorders. The cognitive part helps people change the thinking patterns that support their fears, and the behavioral part helps people change the way they react to anxiety-provoking situations.

For example, CBT can help people with panic disorder learn that their panic attacks are not really heart attacks and help people with social phobia learn how to overcome the belief that others are always watching and judging them. When people are ready to confront their fears, they are shown how to use exposure techniques to desensitize themselves to situations that trigger their anxieties.

People with OCD who fear dirt and germs are encouraged to get their hands dirty and wait increasing amounts of time before washing them. The therapist helps the person cope with the anxiety that waiting produces; after the exercise has been repeated a number of times, the anxiety diminishes. People with social phobia may be encouraged to spend time in feared social situations without giving in to the temptation to flee and to make small social blunders and observe how people respond to them. Since the response is usually far less harsh than the person fears, these anxieties are lessened. People with PTSD may be supported through recalling their traumatic event in a safe situation, which helps reduce the fear it produces. CBT therapists also teach deep breathing and other types of exercises to relieve anxiety and encourage relaxation.

Exposure-based behavioral therapy has been used for many years to treat specific phobias. The person gradually encounters the object or situation that is feared, perhaps at first only through pictures or tapes, then later face-to-face. Often the therapist will accompany the person to a feared situation to provide support and guidance.

CBT is undertaken when people decide they are ready for it and with their permission and cooperation. To be effective, the therapy must be directed at the person’s specific anxieties and must be tailored to his or her needs. There are no side effects other than the discomfort of temporarily increased anxiety.

CBT or behavioral therapy often lasts about 12 weeks. It may be conducted individually or with a group of people who have similar problems. Group therapy is particularly effective for social phobia. Often “homework” is assigned for participants to complete between sessions. There is some evidence that the benefits of CBT last longer than those of medication for people with panic disorder, and the same may be true for OCD, PTSD, and social phobia. If a disorder recurs at a later date, the same therapy can be used to treat it successfully a second time.

Medication can be combined with psychotherapy for specific anxiety disorders, and this is the best treatment approach for many people.

Living With

If you think you have an anxiety disorder, the first person you should see is your family doctor. A physician can determine whether the symptoms that alarm you are due to an anxiety disorder, another medical condition, or both.

If an anxiety disorder is diagnosed, the next step is usually seeing a mental health professional. The practitioners who are most helpful with anxiety disorders are those who have training in cognitive-behavioral therapy and/or behavioral therapy, and who are open to using medication if it is needed.

You should feel comfortable talking with the mental health professional you choose. If you do not, you should seek help elsewhere. Once you find a mental health professional with whom you are comfortable, the two of you should work as a team and make a plan to treat your anxiety disorder together.

Remember that once you start on medication, it is important not to stop taking it abruptly. Certain drugs must be tapered off under the supervision of a doctor or bad reactions can occur. Make sure you talk to the doctor who prescribed your medication before you stop taking it. If you are having trouble with side effects, it’s possible that they can be eliminated by adjusting how much medication you take and when you take it.

Most insurance plans, including health maintenance organizations (HMOs), will cover treatment for anxiety disorders. Check with your insurance company and find out. If you don’t have insurance, the Health and Human Services division of your county government may offer mental health care at a public mental health center that charges people according to how much they are able to pay. If you are on public assistance, you may be able to get care through your state Medicaid plan.

Ways to Make Treatment More Effective

Many people with anxiety disorders benefit from joining a self-help or support group and sharing their problems and achievements with others. Internet chat rooms can also be useful in this regard, but any advice received over the Internet should be used with caution, as Internet acquaintances have usually never seen each other and false identities are common. Talking with a trusted friend or member of the clergy can also provide support, but it is not a substitute for care from a mental health professional.

Stress management techniques and meditation can help people with anxiety disorders calm themselves and may enhance the effects of therapy. There is preliminary evidence that aerobic exercise may have a calming effect. Since caffeine, certain illicit drugs, and even some over-the-counter cold medications can aggravate the symptoms of anxiety disorders, they should be avoided. Check with your physician or pharmacist before taking any additional medications.

The family is very important in the recovery of a person with an anxiety disorder. Ideally, the family should be supportive but not help perpetuate their loved one’s symptoms. Family members should not trivialize the disorder or demand improvement without treatment.

Atopic Dermatitis (Eczema) 

What is dermatitis?

"Dermatitis" literally means "inflamed skin." The term, dermatitis, is used to describe the skin when it is irritated, red, or inflamed. For example, sunburn, hives, or the rash of measles may be described as dermatitis.

What is eczema?

Eczema is a specific type of dermatitis. With eczema, the skin is not only inflamed (dermatitis), but it also is oozing. Early on, the oozing may show up as small blisters ("vesicles"). After a few days, the blisters usually break open and dry up, leaving scabs or crusts. After several weeks, the oozing is only visible under a microscope. At this stage, eczema looks dry and scaly.

What causes eczema?

Eczema is a reaction pattern of the skin. There are numerous causes, or triggers, of eczema. Some cases are triggered by contact allergy, such as poison ivy. More often, eczema is a reaction to external irritation. For example, rubbing the skin (scratching) may cause an eczema reaction. Harsh chemicals, detergents, and excessive washing also can cause it. Generally, eczema does not result from internal causes, such as foods or medications. More often, internal triggers cause a different type of inflammation (dermatitis), called hives or urticaria.

What is atopy?

Atopy, meaning "without a place," is a word invented in 1923 by Drs. Cooke and Coca, who were classifying and categorizing different skin conditions and rashes. They had a group of patients who had unusually sensitive skin, and who were very susceptible to irritation and eczema. Most of these patients also had family members with hay fever, allergies, or asthma. Since this group of patients did not fit in Dr. Coca's classification system, he made up the word, atopy, to describe them. Today, atopy is considered an allergic condition that a person may inherit.

What causes atopy?

It is not known why atopic people have sensitive skin. Most atopic people begin having eczema by two years old. If one parent is atopic (i.e., has hay fever, asthma, or allergies), there is a 20% chance that the child also will be atopic; when both parents are atopic, there is a 60% chance. However, to develop eczema, there must be a cause, such as irritation. Therefore, the skin sensitivity and easy irritation is inherited, while eczema is not.

Human skin is designed to act as a barrier to keep water inside the body and to keep irritants outside the body. In atopic people, the barrier does not work correctly, and the water evaporates easily, leading to very dry skin. Atopic people also perceive the sensation of itch more easily. When clothing slides across the skin, most people feel a sensation of touch or tickle, but atopic people feel a sensation of itch. Skin sensitivity and skin barrier function generally improve with time. Fifty percent of people stop having skin irritation and eczema by age 5, and 90% of people stop by age 9. Sometimes, eczema reappears in adults, usually after age 60.

Why do atopic people get eczema?

Atopic people itch more easily, more intensely, and more frequently than other people. Scratching-which triggers a rash-is believed to be the cause of eczema in atopic people. In fact, eczema in atopic people has been called "the itch that rashes." Two experiments support this theory. If you gently scratch anybody's skin for 15 minutes every day, you will produce the eczema reaction. Once the eczema reaction appears, the skin usually itches so much that people will keep scratching. Unless you interrupt the itch/scratch cycle, eczema cannot heal. On the other hand, if you put a protective cast over the eczema, it will heal very quickly, even without any other treatment.

Eczema can be triggered by any kind of irritation, not just scratching. Since the skin barrier in atopic people does not work correctly, rough wool clothing, strong soap, frequent bathing, or stress can easily trigger eczema. Because atopic skin loses water easily, eczema is often worse in dry winter months. Generally, atopic eczema is not caused by contact allergy or by food allergy.

What are the common findings?

Atopic people often have a small crease on the lower eyelid near the nose ("Dennie's Pleats"). They may have dark circles under the eyes, probably from the closely associated hay fever/allergies. They may have small acne-like bumps on the backs of the arms. The wart virus and the ringworm/athlete's foot fungus grow more easily on atopic skin. These findings help to identify atopic people even if they never have skin irritation or eczema.

Eczema always looks the same, no matter what causes it. It is red, scaly, crusted, or blistered. In infants, eczema is usually located on the scalp ("cradle cap"), cheeks, elbows, and knees. These areas are most affected in infants, because they cannot directly scratch with their fingers, but they can rub against bedding or other surfaces. In toddlers, eczema mostly occurs on the areas where skin can touch itself, like the creases in front of the elbows or behind the knees. In adults, eczema is rare (they usually have only hay fever or asthma), but it may occur on the hands and feet.

How is atopic eczema diagnosed?

For atopic eczema to be diagnosed, itch and eczema must occur. Eczema also must last for a long period of time, or it must appear frequently. Eczema should be in the classic location for the age of the patient. When a person is diagnosed with atopic eczema, another family member usually is atopic.

How is atopic eczema treated?

The goal in treating eczema is for a child to be comfortable and still be able to function; it is not as important to make every last spot of eczema disappear. To treat the inflamed, itchy rash areas, most pediatricians and dermatologists will use very mild prescription strength cortisone (steroid) creams. These creams are applied two to three times daily until the rash clears, or the itching stops. The cortisone will penetrate the skin better if a damp cloth is applied after the medicine. Damp pajamas or long john underwear also may be used. Oral antihistamines, such as Benadryl, reduce the sensation of itch and increase drowsiness to ensure restful sleep. Topical antihistamines do not work. Occasionally, us will prescribe antibiotics when the raw, irritated skin gets infected. Dietary manipulation generally does not work. Severe cases may require a special kind of ultraviolet light treatment or powerful anti-inflammatory medicines.

What are the complications?

Eczematous skin gets infected more easily, especially by the cold sore virus. People with active eczema should not touch a cold sore. In darker skin, eczema and other skin irritation may leave dark spots. Dark spots always resolve without treatment, but it may take several months. The intensity of itching may prevent restful sleep; therefore, young patients may be tired or grouchy during the day.

How is eczema prevented?

Eczema cannot be completely prevented, but it can be less severe and less frequent. Dry skin always itches easier and more severely than moist skin. Humidifiers are helpful. Thick cream moisturizers, applied very frequently, and especially after bathing, also are beneficial. Young children should bathe less frequently with less soap. All soap is very irritating, especially Ivory and deodorant soaps. Soap substitutes, like Cetaphil, are excellent. Soap substitutes can be massaged gently onto the skin and simply wiped off. They do not need to be rinsed. In addition, cotton clothing is less scratchy than most synthetics or wool clothing. To remove irritating soap residue, clothing should be double rinsed in the laundry.

What research is being done?

Currently, most of the research on eczema is focused on developing better and safer anti-inflammatory medications, both topical and oral. Significant research also is underway to better understand and correct the barrier abnormality of the skin. To review recent research articles, go to http://www.nlm.nih.gov and search "pubmed" on your Internet browser.

Links to other information

A list server is available for patients with eczema. Send an e-mail to listserv@sjuvm.stjohns.edu and type "subscribe eczema" in the subject line.

For eczema support group information, call or write to:

National Eczema Society

163 Eversholt Street

London NW1 1BU, United Kingdom

Phone: 0171 388 4097

Fax: 0171 388 5882

Web: http://www.eczema.org

For a pamphlet from the American Academy of Dermatology, go to http://www.aad.org/public/publications/pamphlets/skin_eczema.html

About the Author

After finishing medical school and dermatology training at the University of Oklahoma, Paul came to Colorado to further his knowledge in this specialty.

He is board certified in Dermatology and Dermatopathology. He works at a busy private practice with offices in Aurora and Parker, Colorado. He also teaches at the University of Colorado Department of Dermatology.

Copyright 2012 Paul Gillum, M.D., All Rights Reserved

Attention-Deficit Hyperactivity Disorder (ADHD)  

The Facts About ADHD:

Attention-Deficit Hyperactivity Disorder (ADHD) is characterized by inattentive, hyperactive, and impulsive behavior. These problems are often inappropriate and cause difficulty in daily life. ADHD is a "biopsychosocial" disorder. That is, there appear to be strong genetic, biological, life experience, and social factors that contribute to the extent of problems. ADHD affects 3% to 5% of individuals throughout their life. Early identification and proper treatment dramatically reduces the family, educational, behavioral, and psychological problems experienced by individuals with ADHD. It is believed that through accurate diagnosis and treatment, these problems-including school failure and dropout, depression, behavioral disorders, vocational and relationship problems, and substance abuse-can be properly managed or even avoided.

At one time, it was thought that the symptoms of ADHD lessen by adolescence. Research has now found that the majority of individuals with ADHD become adults with a very similar pattern of problems. Adults with ADHD experience problems at work, in the community, and in their families. They also exhibit a greater degree of emotional problems, including depression and anxiety.

Researchers first described the inattentive, hyperactive, and impulsive problems of children with ADHD in 1902. Since that time, the disorder has been referred to by different names, including Minimal Brain Dysfunction, Hyperkinetic Reaction of Childhood, Attention Deficit Disorder, and, currently, Attention-Deficit Hyperactivity Disorder.

What is ADHD?

ADHD interferes with an individual's ability to stay attentive, particularly in the face of repetitive tasks; to manage effectively emotions and activity level; to respond consistently to consequences; and, perhaps, most importantly, to inhibit, i.e., to stop from doing something. Individuals with ADHD may know what to do, but do not do what they know, because they are unable to stop and think prior to responding, regardless of the setting or the task.

Characteristics of ADHD occur in early childhood for most individuals. Chronic behaviors last at least six months, with an onset often before seven years of age.

Four subtypes of ADHD have been defined. The first type is ADHD-Inattentive Type, and is defined by an individual experiencing at least six of the following characteristics:

  • Fails to give close attention to details or makes careless mistakes
  • Difficulty sustaining attention
  • Does not appear to listen
  • Struggles to follow through on instructions
  • Difficulty with organization
  • Avoids or dislikes tasks requiring sustained mental effort
  • Often loses things necessary for tasks
  • Easily distracted
  • Forgetful in daily activities

The second type is ADHD-Hyperactive/Impulsive Type, and is defined by an individual experiencing six of the following characteristics:

  • Fidgets with hands or feet, or squirms in seat
  • Difficulty remaining seated
  • Runs around or climbs excessively (In adults, it may be limited to subjective feelings of restlessness.)
  • Difficulty engaging in activities quietly
  • Acts as if driven by a motor
  • Talks excessively
  • Blurts out answers before questions have been completed
  • Difficulty waiting in turn-taking situations
  • Interrupts or intrudes upon others

The third type is ADHD-Combined Type, and is defined by an individual meeting both the inattentive and the hyperactive/impulsive criteria.

The fourth type is ADHD-Not Otherwise Specified, and is defined by an individual who shows some characteristics, but an insufficient number of symptoms to reach a full diagnosis. These symptoms, however, disrupt daily life.

School-age individuals with ADHD have a greater likelihood of not advancing to the next grade level, school dropout, academic underachievement, and social and emotional problems. It has been suggested that the symptoms of ADHD may cause children to fail in two of the most important areas for their development-school and peer relationships.

With increasing medical, educational, mental health, and community knowledge about the symptoms of and the problems caused by ADHD, an increasing number of individuals are being identified, diagnosed, and treated. Nonetheless, it is still suspected that a significant group of individuals with ADHD either go undiagnosed or misdiagnosed. Their problems intensify and create significant hurdles meeting life's demands.

Often, ADHD has been inaccurately portrayed as a learning disability. ADHD is a performance disorder. Children with ADHD are able to learn, but they have difficulty performing in school due to the impact of the ADHD symptoms. However, approximately 20% to 30% of children with ADHD do have a learning disability, which makes the identification and treatment of ADHD more difficult. In the childhood years, individuals with ADHD also have an increased risk of developing problems related to oppositional defiance, delinquency, conduct disorder, depression, and anxiety. However, research suggests that it is not ADHD alone, but rather ADHD combined with the development of conduct disorder that may cause the most terrible adolescent outcomes, particularly those related to criminal behavior and substance abuse.

Adults with ADHD also experience problems related to anti-social behavior, vocational and educational underachievement, depression, anxiety, and substance abuse. Unfortunately, many adults, today, with ADHD were not properly diagnosed as children. They grew up struggling with a disability that often went undiagnosed, misdiagnosed, or untreated.

The majority of adults with ADHD have symptoms very similar to those experienced by children. They are restless, easily distracted, inattentive, impulsive, and impatient. Often, they are unable to handle stress. Within the workplace, they may not achieve positions or status equal to that of their siblings or intellectual ability.

What causes ADHD?

Commonly suspected causes of ADHD have included toxins, developmental impairments, diet, injury, ineffective parenting, and heredity. It has been suggested that these potential causes affect brain functioning; thus, ADHD is considered a disorder of brain function. A number of studies have shown significant differences in the structure and brain function of individuals with ADHD, particularly in the right hemisphere of the brain, pre-frontal cortex, basal ganglia, corpus callosum, and cerebellum. These structural and metabolic studies, combined with family, genetic, and drug response studies, have indicated that ADHD is a neurobiological disorder. Though the severity of problems experienced by individuals with ADHD may vary based upon life experience, genetics appears to be the primary underlying factor in determining if an individual will show the symptoms of ADHD.

How is ADHD diagnosed?

Diagnosing ADHD is a multifaceted process. Many biological and psychological problems can cause symptoms similar to those shown by individuals with ADHD. For example, inattention is a symptom of depression. Impulsive behavior is a characteristic sign of delinquency.

A comprehensive evaluation is necessary to diagnose ADHD, in addition to considering and evaluating other causes, and determining the presence or absence of other conditions. Obtaining a careful life history is the most important aspect in diagnosing ADHD. Often, an evaluation for ADHD will assess intellectual, academic, social, and emotional functioning. A medical examination is important to rule out other possible causes of ADHD-like symptoms (e.g., adverse reaction to medications, thyroid problems, etc.). The diagnostic process must include gathering information from teachers and other adults who interact routinely with the individual being evaluated. Although office- or laboratory-based paper and pencil, problem solving, and computerized tasks are popular in assessing ADHD, researchers are evaluating their validity.

With adults, it is even more important to obtain a careful history of childhood, academic, behavioral, and vocational problems. Since ADHD has been recognized as a disorder that occurs throughout life, questionnaires and other related tools for diagnosing ADHD in adults have been standardized and are available.

How is ADHD treated?

Treating ADHD in children requires a coordinated effort between medical, mental health, and educational professionals, with the parents. The combined set of treatments offered by various individuals is referred to as "multi-modal intervention." A multi-modal treatment program for ADHD should include the following:

 

  • Parental training about ADHD and effective behavior management strategies
  • An appropriate educational program
  • Individual and family counseling, when needed, to minimize family problems
  • Medication, when required

Psychostimulants are the most widely used medications to manage ADHD symptoms. At least 70% to 80% of children and adults with ADHD respond positively to psychostimulant medications. These medications are considered performance enhancers. Thus, they may, to some extent, stimulate the performance of all individuals. However, given their specific problems, children with ADHD appear to improve, with a reduction in impulsive and hyperactive behavior and an increase in attention span.

Behavior management is important for children with ADHD. The use of positive reinforcement with punishment, in a model referred to as "response cost," is particularly effective for children with ADHD.

Most children with ADHD can be taught in a regular classroom with minor adjustments in the classroom setting, the addition of support personnel, and/or special education programs provided outside of the classroom. The most severely affected children with ADHD often require specialized classrooms.

Adults with ADHD may benefit from learning to structure their environment; to develop organizational skills; to receive vocational counseling; and, if needed, to have short-term psychotherapy to cope with life experiences and personal problems. For some individuals, with a combination of ADHD and other problems, particularly depression, long-term psychotherapy can be beneficial to teach behavior change and coping strategies.

ADHD treatments are effective in reducing immediate, symptomatic problems. However, the long-term outcome research for children with ADHD has led researchers to conclude that symptom relief alone may not significantly impact the long-term outcome. Thus, ADHD treatments are provided to relieve symptoms, while efforts also are made to assist the ADHD individual in building life success.

To help parents in treating their ADHD child, a nine-point set of strategies is outlined below (Goldstein and Goldstein, 1998).

Step 1: Learn About ADHD. It is important to understand that managing ADHD-driven behavior at home requires accurate knowledge of the disorder and its complications. This is not a problem that can be cured. It will affect children throughout their life. You must be consistent, predictable, and supportive of a child in daily interactions. You will be repeatedly placed in an advocacy position with schools and community resources. It is suggested that you consider joining a parent support organization directed at ADHD.

Step 2: Understanding Incompetence vs. Non-Compliance. You must distinguish between problems that result from incompetence and those that result from non-compliance. The former must be dealt with through education and skill building. The latter is usually quite effectively dealt with through consequences. You must understand that punishing a child for symptoms of ADHD may lead to remorse and a promise of better behavior, but stands little chance of changing behavior in the future.

You must develop a set of strategies to deal with ADHD symptoms by making tasks interesting, payoffs more valuable, and increasing consistency at home, while providing a consistent set of punishments for non-compliant behavior. The best way of dealing with non-compliance is to make certain that you have control over consequences, issue appropriate commands, manage rewards, and use response cost techniques.

Step 3: Give Positive Directions. You must make certain that positive, rather than negative, directions are given. A positive direction tells the child what to begin doing, rather than focusing on what to stop doing. Such directions are clear (e.g., "please begin your math homework"), rather than vague (e.g., "pay attention"). The need for repeated trials cannot be overemphasized. You serve as a control system for your child. Your child is going to require more management and supervision in an appropriate, consistent, affirmative way than other children.

Step 4: Provide Ample Rewards. You must provide ample rewards for appropriate behavior. Social and tangible rewards must be provided more frequently when an ADHD child succeeds. Children with ADHD also require more immediate, frequent, predictable, and consistently applied consequences. It is important for the child to learn to consistently act when expected behaviors are required. Most children with ADHD know how to do what is requested, but have difficulty doing so when they are supposed to. Children with ADHD also have been found to receive less positive reinforcement than their siblings.

It is important to avoid negative reinforcement. This only results in removing the negative consequences when the child complies. This often leads to immediate compliance, but, in the long run, it reinforces, rather than discourages, inappropriate behavior.

Token systems, which are particularly effective for children and early teens with ADHD, should be used. Often, token systems fail at home, not because they are ineffective, but because they can be cumbersome and then poorly managed. Tokens should be used with children who are four to seven years old, and points with those children who are eight years and older. Required activities should be kept to a reasonable length, and an extensive list of reinforcers should be available, with at least one third of points or tokens available each day. Children should be able to spend about two thirds of points or tokens earned each day. Bonuses should be paid for a good attitude. You should always allow your children to earn their way off a system through compliant behavior, but a minimum of six to eight weeks on a token system, once it is initiated, should be required.

Step 5: Choose Your Battles. You should choose your battles carefully. While it is essential for you to stay one step ahead, it also is important for you to recognize and accept the difficulties that your child experiences due to ADHD. You should reinforce positive behavior, apply immediate consequences for behaviors that cannot be ignored, and use tokens or points with ADHD children. Consequences, both rewards and punishments, should be provided quickly and consistently.

Step 6: Use Response Cost Techniques. You must understand the use of response cost, a punishing technique in which you might lose what you have earned. If a give and take response cost system is used, you must make certain the child does not go bankrupt. It may be equally effective, especially with older children and teens, to start with the entire payoff and then have the individual work to keep it. For example, instead of providing the child with a $5 allowance at the end of the week when she behaves appropriately, parents may place $5 in nickels in a jar on the shelf that is visible to the child. As long as the child behaves appropriately, the $5 belongs to the child. For every infraction that has been clearly defined and agreed upon between the parents and the child, a nickel is removed from the jar. At the end of the week, the remaining amount is given to the child.

Step 7: Plan Appropriately. You must learn to respond to the child's limits in a proactive way. Accepting the diagnosis of ADHD means accepting the need to make changes in the child's environment. Routines should be consistent and rarely vary. Rules should be stated clearly and concisely. Activities or situations in which the child has a history of risk for problems should either be avoided or carefully planned.

Step 8: Punishing Appropriately. Most likely, punishment alone will not reduce the symptoms of ADHD. However, punishment does play a role as a consequence for non-compliant behaviors. Punishment also is partially appropriate if a rule is violated, even as the result of ADHD. However, in this circumstance, punishment must not be provided alone, because it will not change the child's long-term behavior. For a child with ADHD, you must understand that unless a managing strategy is provided along with punishment, it is not likely that the punishment will cause a change in behavior.

Step 9: Building Islands of Competence. Because of your child's ADHD, there is a greater likelihood that the relationship between you and your child will be strained. However, in the end, it is what is right about children, rather than what is wrong about them, that best predicts their life outcome. Increasingly, the mental health field is focusing on building strengths, rather than attempting to hammer away at weaknesses. One of the best predictors of building strengths is the parents' relationship with their child. If you approach each day with a sense of hope, encouragement, acceptance, and honesty, you will empower your child. If you approach each day with a sense of despair, discouragement, anger, and blame, you will not only jeopardize your child's future, but also further feed their sense of powerlessness and hopelessness.

What research is being done?

Most likely, ADHD will continue to be the most widely researched and debated area in mental health and child development. New ground is broken daily. The five-year, multi-site, multi-modal ADHD treatment study recently completed by the National Institute of Mental Health has provided an expanded set of answers concerning the diagnosis, treatment, and outcome of individuals with ADHD. Ongoing studies of molecular genetics also may soon reliably identify the genes related to this disorder.

Other Information

Organizations, such as CH.A.D.D., 8181 Professional Plaza, Suite 201, Landover, MD 20785, (301) 306-7070, offer parents information, monthly magazines, newsletters, and presentations.

A large trade library of books, videos, and cassette tapes is available for parents, providing accurate information concerning ADHD and research proven effective parenting strategies.

References

Barkley, R.A. (1998). Attention Deficit Hyperactivity Disorder: A Handbook for Diagnosis and Treatment, 2nd edition. New York, NY: Guilford Press.

Barkley, R.A. (1997). ADHD and the Nature of Self-Control. New York, NY: Guilford Press.

DuPaul, G.J. & Stoner, G. (1994). ADHD in the Schools: Assessment and Intervention Strategies. New York, NY: Guilford Press.

Goldstein, S. (1997). Managing Attention and Learning Disorders in Late Adolescence and Adulthood: A Guide for Practitioners. New York, NY: Wiley Interscience Press.

Goldstein, S. & Goldstein, M. (1998). Managing Attention Deficit Hyperactivity Disorder: A Guide for Practitioners, 2nd Edition. New York, NY: Wiley Interscience Press.

Greenhill, L.L. & Osman, B.B. (1991). Ritalin: Theory and Patient Management. New York, NY: Mary Ann Liebert, Inc. Publisher.

Matson, J.L. (1993). Handbook for Hyperactivity in Children. Boston, MA: Allyn & Bacon.

Nadeau, K.G. (1995). A Comprehensive Guide to Attention Deficit Disorder in Adults. New York, NY: Brunner/Mazel Publishers.

About the Author

Sam Goldstein, Ph.D. is a member of the faculty at the University of Utah. He is on staff at Primary Children's Hospital and the University Neuropsychiatric Institute. Dr. Goldstein has served as Chairman of the National Professional Advisory Board for the organization Children and Adults with Attention Deficit Hyperactivity Disorder and is a member of the Professional Advisory Boards for the Attention Deficit Disorder Association and the National Parenting Instructors Association.

Dr. Goldstein's publications include articles, guides, book chapters and twelve texts on subjects including genetic and developmental disorders, depression, classroom consultation, learning disability and Attention Deficit Hyperactivity Disorder. His most recent texts include the Handbook of Neurodevelopmental and Genetic Disorders in Children (Guildford, 1998) and Managing Attention Deficit Hyperactivity Disorder in Children - 2nd Edition (Wiley, 1998).

Dr. Goldstein serves as Associate Editor for the Journal of Attention Disorders and is a member of the Editorial Boards of the ADHD Report, Archives of Clinical Neuropsychology and the Journal of Learning Disabilities.

Copyright 2012 Sam Goldstein, Ph.D., All Rights Reserved

Breast Enlargement, Premature 

What is premature thelarche?

Thelarche means "the beginning of breast development." Therefore, if a girl begins to show breast enlargement at an early age (anywhere from birth to six years), it is called "premature thelarche."

Technically, most cases of early breast enlargement are harmless, and do not progress significantly. They are not the beginning of (continued) breast development. They also are not usually associated with the development of the other physical signs of puberty, e.g., acne, pubic hair, periods, or rapid growth. Therefore, a better term for this condition is infantile, or early, "gynecomastia," which only signifies that one or both breasts are enlarged.

What causes premature thelarche?

Studies of girls with early breast enlargement have not shown elevated blood levels of estrogen or any other abnormality. Occasionally, an ovarian cyst (or cysts) may be seen on a pelvic ultrasound, but this condition also may occur in girls without breast enlargement; therefore, it is not clear if the cyst(s) are secreting enough estrogen to cause the breast enlargement. Some physicians believe that the girls are just temporarily more sensitive to their normal blood levels of estrogen.

Who gets premature thelarche?

There is not one identifiable group of girls who develops early breast enlargement. However, it is a concern if a male infant or a young boy shows breast enlargement.

How does premature thelarche cause disease?

Premature thelarche is not a disease; instead, it is a normal finding in some young girls or female infants. If there are other signs of puberty, then a physician should evaluate the child for the causes of early puberty.

What are the common findings?

The common finding is the enlargement of one or both breasts. In simple premature thelarche, there are no other signs of pubertal development, and the child is growing at a normal-not an increased-rate.

How is premature thelarche diagnosed?

Most commonly, premature thelarche is diagnosed in a female infant or a girl up to three years of age. Occasionally, a girl from three to six years of age will show an enlargement of one or both breasts. However, after age six, the beginning of breast development is actually the beginning of puberty; however, it is a very slow form of development. In addition, girls with early breast development usually do not have early periods.

Typically, the girl has no other signs of puberty, and is growing at a normal, pre-pubertal growth rate, i.e., about two inches a year. Laboratory studies are not usually helpful, since they show low (pre-pubertal) concentrations of estrogen or other hormones that stimulate pubertal development. An x-ray of the hand shows a picture that is normal for the girl's age, and not that of an older girl.

How is premature thelarche treated?

Treatment for early breast development is not necessary; however, the physician and the parents may want to monitor any changes in the girl's breast size.

What are the complications?

Usually, there are no complications associated with early breast development. Since there is a very small chance that the girl is actually starting puberty, it is recommended that both the physician and the parents monitor her.

How is premature thelarche prevented?

Premature Thelarche cannot be prevented. Parents should be sensitive to their children's concerns and encourage communication so as to alleviate anxiety or fears.

References

Kappy MS, Ganong CS. Advances in the treatment of precocious puberty. Adv Pediatr 1994;41:223-61.

About the Author

Dr. Kappy is a professor of pediatrics at the University of Colorado Health Sciences Center and the Chief of the Pediatric Endocrinology Department at The Children's Hospital in Denver, Colorado.

He was a recipient of the Johns Hopkins University Distinguished Alumnus Award in 1996. His research interest include the treatment of precocious puberty and the effects of growth hormone in growth hormone-deficient individuals.

Copyright 2012 Michael S. Kappy, M.D., Ph.D., All Rights Reserved

Breath-Holding Spells 

What are Breath-Holding Spells?

Breath-Holding Spells may occur when a young child involuntarily "holds" his/her breath, resulting in a blue, gray or pale color of the face and body. It may occasionally be followed by fainting and a brief period of unconsciousness.

What Causes a Breath-Holding Spell?

Typically, a child between the ages of 6 months to 6 years will become emotionally upset, resulting in a prolonged inspiration and a subsequent "holding" of his/her breath (cyanotic spell). In some circumstances, a child may be surprised, excited, angered or frightened and may lose consciousness rapidly (pallid spell). It is hypothesized that the child loses consciousness due to a lack of cerebral blood flow from stimulation of the vagus nerve.

What are the symptoms of Breath-Holding Spells?

In addition to the color changes and occasional loss of consciousness, children may rarely have a brief seizure after they faint. These seizures will resolve on their own very quickly. Fortunately, the children begin breathing again spontaneously after they lose consciousness.

How are Breath-Holding Spells Diagnosed?

These spells are usually diagnosed by history alone. Your health care provider may choose to evaluate your child's heart with an electrocardiogram (ECG) or look for an underlying seizure disorder with an electroencephalogram (EEG). There is no relationship between these spells and epilepsy.

How are Breath-Holding Spells Treated?

The spells self-resolve as your child gets older. Parents, family members, child care providers and teachers should be aware of the possibility of a breath-holding spell. In the event that your child begins to "hold" his/her breath, caretakers should recognize the possibility of fainting and work to keep the child safe. It is not recommended that caretakers "give in" to the child's requests or wants just to avoid a spell. Parents may wish to consult with their health care provider or a trained therapist to explore effective behavior modification techniques.

Anticonvulsant medications are not effective in this condition. Atropine has been studied as a potential medication, but the side effects make this medication an unlikely choice. If your child has gastroesophageal reflux, your health care provider may choose to treat this condition more aggressively in order to minimize stimulation of the vagus nerve.

Parents should be taught how to respond and treat a seizure in the event that it should happen in association with a Breath-Holding Spell. They should activate their local emergency medical system (e.g. Call 911) if their child loses consciousness for greater than 1 minute.

What are the Complications of a Breath-Holding Spell?

These spells will not harm your child as long as proper safety precautions are met to avoid trauma during a fall to the ground. There are no known long-term effects. You may want to talk to a therapist if you find yourself avoiding discipline for fear of inducing a spell.

References

Schmitt BD. Instructions for Pediatric Patients. Philadelphia: WB Saunders 1992

Avery ME, Pediatric Medicine, Williams and Wilkins, 1989

Reviewed by: Dan Feiten MD

This Article contains the comments, views and opinions of the Author at the time of its writing and may not necessarily reflect the views of Pediatric Web, Inc., its officers, directors, affiliates or agents. No claim is made by Pediatric Web, the Author, or the Author's medical practice regarding the effectiveness and reliability of the statements contained herein and such individuals and entities disclaim any and all liability for the comments and statements contained in this Article and for any use or misuse of the statements made in this article in any specific medical situations. Further, this Article is intended to be general in nature and shall not be considered medical advice. The statements made are not to be utilized to diagnose and/or treat any individual's medical symptoms. If you or someone you know has symptoms which you believe are similar to this Article, you should discuss such symptoms with your personal physician or other qualified medical practitioner.

Copyright 2012 Pediatric Web, Inc., by Dan Feiten, M.D. All Rights Reserved

Bronchiolitis 

What is bronchiolitis?

Bronchiolitis is an infectious disease of the lower respiratory tract caused by a virus. It occurs in young children, usually within the first two years of life. Signs of an upper respiratory tract infection (a "cold"), as well as signs of a lower respiratory tract infection, characterized by wheezing, commonly accompany bronchiolitis. For this reason, bronchiolitis has sometimes been called "asthmatic bronchitis" or "wheezy bronchitis."

What causes bronchiolitis?

Respiratory viruses cause bronchiolitis. Many common viruses, especially those that occur in the winter and spring, may cause bronchiolitis in young children. The most frequent cause of bronchiolitis is Respiratory Syncytial Virus (RSV). RSV causes outbreaks of bronchiolitis each year throughout most of the world. In North America, RSV causes regular outbreaks, lasting two to three months, which begin in the late fall or winter, and varying somewhat depending on the area of the country.

In the warmer parts of the United States, the annual outbreaks tend to start slightly earlier than in the colder, more northern climates, which usually experience the beginning of an outbreak in November or December, with peak activity in January through March.

Parainfluenza viruses, the second most common cause of bronchiolitis, also tend to occur in outbreaks, but at different seasons. Parainfluenza type 1 virus produces outbreaks in the fall every other year in the odd numbered years, while parainfluenza type 3 virus-which is the most common of the parainfluenza viruses to cause bronchiolitis-is prominent in the spring, but may last into the summer and fall.

Occasionally, influenza also may cause bronchiolitis in young children during its winter to spring outbreaks. A number of other common viruses that cause respiratory infections, especially colds, may sometimes cause bronchiolitis in the young child.

These respiratory viruses that cause the majority of bronchiolitis cases have two common characteristics: first, they are widespread viruses, which infect essentially all of us early in life and, sometimes, repeatedly throughout life. Second, these viruses each cause multiple types of respiratory illness, including upper respiratory tract infections, such as colds and ear infections, as well as infections of the lower respiratory tract, such as pneumonia, bronchitis, and laryngitis.

Who gets bronchiolitis?

Bronchiolitis is a common illness occurring in normal children during their first or second year of life, most frequently between 2 and 10 months of age. Younger infants and those who were born prematurely tend to have more severe illness. Children who are in day care during their first year of life are frequently exposed to respiratory viruses from their close contact with many other young children; therefore, they often have many respiratory infections during their first year.

RSV spreads easily among groups of young children, and, in some, it may appear as bronchiolitis, while, in others, it may appear only as an upper respiratory tract infection. Children who are infected with RSV or with another of the bronchiolitis viruses may even become infected again in their second year of life with the same virus.

How do respiratory viruses cause disease?

The respiratory viruses that cause bronchiolitis are acquired from close contact with other individuals who are infected with the virus. Sometimes, these people show signs of illness, and, at other times, the infection may be very mild with few or no symptoms. The viruses, nevertheless, are still present in the secretions, and they are infectious when they enter the respiratory tract of a child via the eyes, nose, or, occasionally, the mouth.

The spread of these viruses from individuals who are infected usually occurs from the small particles of respiratory mucus that are released from their sneezes or from touching their secretions that may be on used tissues or on other objects. When children rub their eyes or nose with hands contaminated by these secretions, the virus may enter the respiratory tract. In the lining of the nose and the upper respiratory tract, the virus multiplies and spreads down to the lower airways and lungs.

During the initial few days, when the virus is multiplying, the child usually does not show any symptoms. Subsequently, however, the virus causes damage to the cells lining the respiratory tract, resulting in an excess of cellular material and secretions, which tend to obstruct the usual flow of air. Young infants are particularly vulnerable to this "plugging effect" because the diameter of their airways is small. The obstruction to their breathing tends to be most pronounced when they are exhaling, as the diameter of the airway is reduced more during the increased pressure needed for breathing out. A wheezy sound may be heard as the child forces the air through these areas of partial obstruction.

What are the common findings in a child with bronchiolitis?

Initially, bronchiolitis appears as an upper respiratory tract infection (i.e., a cold), with nasal stuffiness, a sore throat, and a slight cough. Fever, which is usually mild, but, occasionally, may be high, is frequent during these initial few days of the infection. Involvement of the lower respiratory tract usually appears two to three days later, and is characterized by the child developing a more prominent cough and the general signs of a worsening infection, such as irritability, decreased activity, and poor appetite. If the infection progresses further, the child may seem to have labored, fast, or wheezy breathing.

The child may grunt with the effort of each breath, and the child's chest muscles may retract between the ribs. Only the more severely ill children have labored breathing; most appear to have a bad cold with wheezy or croupy breathing. Whenever parents are concerned about a change in the sound, effort, or pattern of their child's breathing, they should call their physician.

For most infants, bronchiolitis lasts three to seven days. Although most show improvement within three to four days, a more prolonged cough and a gradual recovery period of one to two weeks or longer is common.

How is bronchiolitis diagnosed?

Bronchiolitis is diagnosed most frequently on its characteristic appearance in a child of the right age, especially when it occurs during the RSV season. For instance, a child within the first two years of life who develops a cold and wheezing during the winter months of peak RSV activity in a community is most likely to have bronchiolitis. Several other diseases, however, may appear similar to bronchiolitis. Asthma cannot always be easily differentiated from bronchiolitis, particularly if the child is having the first episode of wheezing. Furthermore, the two diseases may be combined since a significant proportion of wheezing episodes occurring in allergic or asthmatic children are initiated by a virus.

Young children who have repeated episodes of bronchiolitis or wheezing are more likely to have asthma or an allergic background. Occasionally, the repetitive episodes of wheezing may be due to gastric reflux, a condition resulting from the tendency of some young infants to regurgitate stomach contents in the respiratory tract after feeding. Rarely, a child swallowing or choking on something that lodges in the respiratory tract and causes an obstruction of the airway will mimic bronchiolitis.

The child's physician may sometimes wish to get a chest x-ray or a measurement of the oxygen level in the blood to help confirm the diagnosis or severity of bronchiolitis. Secretions from the nose and throat may be tested for the presence of the respiratory virus causing bronchiolitis.

How is bronchiolitis treated?

The vast majority of children with bronchiolitis do well with no more than the usual care required for an infant with a bad cold. If fever is present, the usual medications to control it, such as acetaminophen and ibuprofen, should be used. The child should be encouraged to take an adequate amount of fluids. Solid food is less important. Alleviating the nasal stuffiness may help the child in taking fluids and in sleeping. Saline nose drops or other mild drops and suctioning, as advised by your physician, may help. Sometimes, a cold water humidifier in the child's room may aid the nasal stuffiness caused by thick, dried secretions.

In the more severely ill child with the signs of lethargy and difficulty in breathing, hospitalization may be required to administer additional oxygen or fluids if the child is dehydrated.

Since a virus causes bronchiolitis, the antibiotics used for bacterial infections, such as strep throats and ear infections, are of no benefit. Viruses do not respond to such antibiotics. Currently, only one antiviral drug is approved for use for bronchiolitis caused by RSV. This drug, ribavirin, can be administered in a hospital by an aerosol into the child's nose and mouth. Some children may be treated with bronchodilator drugs, which are aimed at reducing the airway obstruction, which occurs in some children, mainly those with allergies. Many infants with bronchiolitis, however, do not respond or have a variable response to bronchodilators. In most young infants, the major cause of the airway obstruction is the inflammation caused by the virus, rather than an abnormal reaction of the child's airways.

Corticosteroids have been evaluated in the treatment of bronchiolitis in an attempt to reduce the inflammation. However, carefully controlled studies have shown that they have no benefit in treating bronchiolitis, and the American Academy of Pediatrics does not advise the use of these drugs for bronchiolitis.

What are the complications?

Many studies of large numbers of children with bronchiolitis have shown that those infants who were most likely to have a complicated or severe case are those with underlying diseases, especially heart or lung disease. Additionally, those children who were born prematurely and those infants in the first few weeks of life are more at risk for prolonged or complicated illnesses. Infants who have the most severe illness may have such difficulty in breathing that they require assistance in their breathing with mechanical ventilation. Very young infants may have the complication of suddenly stopping breathing for prolonged periods, called apnea. Such complications are generally rare, and the death rate from bronchiolitis is very low.

The most common complication of bronchiolitis for children hospitalized with a more severe infection is recurrent episodes of wheezing within the first two years after discharge from the hospital. However, over the years, the frequency of these continued episodes of wheezing tends to decrease markedly. Most studies show that children who have had milder bronchiolitis, not requiring hospitalization, do not have this same degree of risk for recurrent episodes of wheezing.

How can bronchiolitis be prevented?

For most children, currently, there is not an effective way to prevent bronchiolitis. Since several very common respiratory viruses, especially RSV, cause bronchiolitis, contact with others who are infected is frequent and often is not recognized. Within the child's family, spread of RSV and other respiratory viruses may be lessened by good hand-washing of the parents and other family members and by reducing an infant's contact with secretions from an infected person (e.g., contaminated used tissues, shared toys, utensils, and other objects). Isolation of the child and interference with the child's usual play and activities are usually of little value and should not be attempted for most normal children.

For those few infants who are at a very high risk for complicated or severe infections from RSV, namely those who were born with significant prematurity and/or underlying lung disease, an additional means of prevention is available. A product containing a specific antibody to RSV has been approved for monthly administration to help prevent RSV infection in these high-risk children. This form of antibody against RSV has the advantage of being able to be administered once a month by intramuscular injection. In large, controlled studies, this product has been shown to decrease hospitalization from RSV infections in these high-risk infants.

What research is being done?

Since these respiratory viruses, especially RSV, produce so much illness in young children and are a major cause of medical visits and costs, much research currently is underway. This research is focused on developing effective vaccines to prevent RSV and to prevent infection with some of the other respiratory viruses, such as the parainfluenza and influenza viruses. Although a number of vaccines for the prevention of RSV have been tested in clinical trials, they have yet to be approved for general use. A number of vaccines, which contain live, but weakened, or inactive parts of the virus, appear promising and are being tested further. In addition, a number of antiviral drugs are being developed and tested for both preventing and treating the viruses that cause bronchiolitis.

References

Gruber WC: Bronchiolitis: In Long SS, Pickering LK, Prober CG, eds. Principles and Practices of Pediatric Infectious Diseases, 2nd edition, 1997: 246.

* Hall CB, Hall WJ: Bronchiolitis. In: Mandell GL, Benett JE, Dolin R, eds. Principles and Practice of Infectious Diseases, Fifth Edition. New York, NY: Churchill Livingstone Inc. 1999 (in press).

* Hall CB, Hall WJ: Bronchiolitis. In: Hoekelman RA, Friedman SB, Nelson NM, Seidel HM, Weitzman ML ed. Primary Pediatric Care. Fourth Edition. St. Louis, MO: C.V. Mosby 1999 (in press).

* These two references are also currently in the published editions:

Hall CB, Hall WJ: Bronchiolitis. In: Mandell GL, Benett JE, Dolin R, eds. Principles and Practice of Infectious Diseases, Fourth Edition. New York, NY: Churchill Livingstone Inc. 1994:612-614.

Hall CB, Hall WJ: Bronchiolitis. In: Hoekelman RA, Friedman SB, Nelson NM, Seidel HM, Weitzman ML ed. Primary Pediatric Care. Third Edition. St. Louis, MO: C.V. Mosby 1997:1213-1216.

About the Author

Dr. Hall is board certified in pediatrics and the subspecialty of pediatric infectious diseases. She is also a Professor of Pediatrics and Medicine at the University of Rochester Medical Center.

She has served on a number of national and government committees concerning infectious diseases and immunizations. Her major areas of medical research concern viral diseases of children, especially respiratory viruses, as well as other viral infections, such as HHV6 and HHV7, immunizations and epidemiology.

Reviewed 11/3/2010

Copyright 2012 Caroline B. Hall M.D., All Rights Reserved

Care of the Premature Infant 

What is prematurity?

Any infant born at less than 37 weeks gestation is by definition "premature." Most infants born at 35 to 37 weeks gestation are relatively healthy, and they often have only brief hospital stays in normal newborn nurseries. The problems associated with premature infants occur with greater frequency in those of lower gestational age at birth, typically less than 35 weeks gestation.

What is important to know prior to the birth of a premature infant?

Some treatments may be used in mothers who are at risk of having their baby early. Anyone who has had a previous preterm infant is at a "high risk" of having another preterm infant. Therefore, prenatal care should be sought with a caregiver who is up to date and comfortable with the management of a mother who is at risk for a preterm delivery.

When a mother is in preterm labor, she should be admitted to the hospital and placed on drugs to slow the progress of labor. Although these drugs will not delay delivery for very long in many cases, they often allow enough time to receive a full course of steroids (betamethasone or dexamethasone) to accelerate the maturation of the fetus. Steroids have been shown to decrease the rate of death of preterm infants, as well as decrease the rate of lung, intestinal, and brain complications.

When there is a risk of delivering a baby early, it is appropriate to ask if the nursery at the hospital is able to take care of a preterm baby. If not-if it is safe for the mother and fetus-they should be transferred to a facility that is capable of caring for the baby after birth. In addition, an expectant mother should talk with the hospital staff members who will care for the baby after birth. Issues to discuss include a review of the problems associated with prematurity, chances of survival, and the anticipated long-term outcome.

What is the chance of survival for a premature infant?

The survival of premature infants is determined by gestational age at delivery and birth weight. Infants born after 28 weeks gestation and 1,000 grams, or 3 pounds 3 ounces (454 grams equals 1 pound), have more than a 90% chance of survival. The rate of survival at 27 weeks and 900 grams is 80% to 85%, at 26 weeks and 800 grams is 75% to 80%, and at 25 weeks and 700 grams is 60%. Rates of survival drop off rapidly at less than 25 weeks, and they vary quite a bit among different nurseries.

The long-term outcome also is dependent on gestational age and birth weight. For babies of 26 to 32 weeks gestation, the rate of severe neurodevelopmental problems among survivors is about 10%; at 23 to 26 weeks, the rate increases gradually to 25% of survivors. Other long-term complications, including lung problems, vision disturbances, and hearing loss, are more common in babies of lower gestational age at birth.

What is the delivery room management of the premature infant?

Staff members who are experienced in the management of premature infants should be present in the delivery room. The infant must be kept warm; provided with adequate oxygen; and helped with breathing, if necessary. Most infants who weigh less than 1,000 grams at birth will require a breathing tube in their airway.

What problems can be expected in the nursery?

Thermoregulation

Preterm infants are not able to maintain their body temperature without an external heat source. Initially, heat will be provided with an overhead warmer that responds to the baby's temperature and provides adequate warmth to maintain a normal body temperature. The warmer provides easy access to the baby for necessary cares during the early, "unstable" period. When more stable, the baby will be moved into an incubator to maintain a warm environment. Most infants are able to move into an open crib at a weight of approximately 1,800 grams.

Nutrition

Initially, premature infants are given all the necessary fluid, calories, protein, sugar, and fat in their veins. When their condition stabilizes, a feeding tube into their stomachs can start. The amount of feeds starts at a very low level, and it is advanced slowly over 3 to 7 days to "full" feeds. At this point, the infant no longer needs fluids or nutrition into their veins. Once full feeds are achieved, anticipated rates of weight gain are 10 to 25 grams per day. Breast milk is the food of choice, but formulas developed for preterm infants are an acceptable substitute. A baby will be able to begin "nipple" feeding from a bottle at about 33 to 34 weeks post conception.

Monitoring

All babies in intensive care nurseries have their heart rates, breathing, and, in some cases, blood pressure monitored continuously. Blood oxygen also can be monitored with a pulse oximeter in infants with lung and heart problems. A pulse oximeter uses a light source, wrapped around the infant's foot or hand, to measure the amount of oxygen carried by the hemoglobin in the red blood cells. At the start, a sick baby will usually have an indwelling tube in an artery (usually the umbilical artery in the cord that was connected to the placenta in the uterus) to sample blood for tests without having to draw blood from the infant. A tube also may be placed in the umbilical vein to give fluids and nutrition. These tubes are usually kept in the infant for 3 to 10 days depending on how sick they are.

Lung problems

Hyaline membrane disease (HMD) or respiratory distress syndrome (RDS). By 24 weeks gestation, there is adequate surface for gas exchange (bringing oxygen to the blood and removing carbon dioxide) in the lung; however, a necessary element for survival is missing. The natural tendency of a lung is to collapse when a person breathes out. Once collapsed, it is very difficult to reopen the lung. A chemical called surfactant is produced in the lungs to lower surface tension as the lungs get smaller during exhalation. This chemical prevents a total collapse of the lungs and allows easy re-expansion with inhalation.

Preterm babies have little or no surfactant in their lungs, and they would die from respiratory failure without intervention. The frequency of surfactant deficiency ranges from nearly 100% at 24 weeks gestation, to 60% at 28 weeks and 25% at 32 weeks. To treat this condition, babies are given surfactant substitutes through their breathing tubes into the lungs and to help them breathe with breathing machines called ventilators. Depending on their gestation at birth, premature infants will remain on the ventilator from a few days to up to about 6 weeks.

When babies are ready to come off the ventilator, they are "extubated" (removal of the breathing tube) to either nasal CPAP (provides low pressure through a device placed in the nose to help keep the lungs expanded) or to a bubble with extra oxygen placed over the head. Ultimately, supplemental oxygen can be delivered with a small hose under the nose called a nasal cannula.

Apnea and bradycardia (A&B spells). At the time of birth, preterm infants have an immature respiratory drive. This results in spells when they "forget" to breathe (apnea). If these spells are long enough, they result in a decrease in blood oxygen and then a slowing of the heart rate (bradycardia). Sometimes, these episodes resolve themselves, while, in other cases, the infants need to be stimulated to restart breathing. If the spells are bad enough or occur with a frequency of more than 6 to 10 times per day, they can be treated medically with caffeine (like in coffee) citrate.

In most infants, this is successful; however, if this treatment fails, it is sometimes necessary to place the infant back on nasal CPAP or the ventilator. Infants born beyond 28 weeks gestation generally outgrow these spells by 37 weeks post conception. In infants born at lower gestational ages, the spells may last longer.

Chronic lung disease (CLD) or bronchopulmonary dysplasia (BPD). The combination of prematurity, oxygen exposure, and mechanical ventilation can result in lung injury to preterm babies. The consequence of this lung injury is chronic lung disease. CLD can prolong ventilator courses in small preterm infants (less than 1,200 grams) and result in a long-term oxygen need that can sometimes extend to home care. The frequency of this complication is greatest in the least mature infants, and, in those infants less than 26 weeks gestation at birth, it can occur in over 75% of cases. However, the lungs still generate new gas exchange surface until adolescence so the vast majority of infants outgrow this problem.

Patent ductus arteriosus (PDA)

The major heart-related problem in premature infants is PDA. The ductus is a structure that is present in a fetus connecting the main blood vessel that goes to the lungs from the heart to the main blood vessel that goes to the rest of the body. In the fetus, very little blood goes to the lungs because the fetus does not breathe air. The ductus allows the majority of the blood that is headed from the heart to the lungs to cross to the circulation to the body, bypassing the lungs. At birth, it is supposed to close.

In preterm babies, this closure may not occur. After birth, if this vessel is open, too much blood ends up going to the lungs, making it harder for an infant to breathe or to be ventilated. To close this blood vessel, the medication indomethacin is used. This works over 75% of the time; however, if it fails, a surgical closure is needed. Fortunately, it is a brief procedure that can be done at the bedside with almost uniformly good results.

Necrotizing enterocolitis (NEC)

The most important intestinal complication in preterm babies is NEC. This disease is the result of periods of low blood flow to the intestine, intestinal immaturity, and infection. When a baby develops this problem, they cannot be fed into the intestine and require 10 to 21 days of nutrition in their veins. In addition, a large tube is placed in the stomach to keep air out, and antibiotics are given. Many of the cases respond to this treatment, but, in some cases, surgery is needed to remove parts of the intestine that have died.

Intraventricular hemorrhage (IVH)

The internal structures of the brain in a preterm infant are at risk for hemorrhage. The bleeding is usually the result of a previous period of low blood flow, and occurs in the first four days of life. Diagnosis of the bleeding is performed with bedside ultrasound exams. The degree of bleeding is graded from 1 to 4. Grade 1 and 2 bleeds are small, and they do not increase the infant's risk of neurodevelopmental abnormalities, while 33% of the babies with grade 3 and 4 bleeds will suffer severe neurologic injury, and another 33% will suffer lesser deficits. The final neurologic complication in preterm babies is injury to the motor tracts in the brain called periventricular leukomalacia (PVL), which causes cerebral palsy-a movement disorder with spasms that can impair the ability to walk.

Retinopathy of prematurity

The retina of the preterm infant is not fully "vascularized"(i.e., the blood vessels are not fully developed) at birth. The infant is at risk for a process called ROP, which, in its worst form, can lead to detachment of the retina and blindness. In babies born at less than 28 weeks or 1,500 grams, an ophthalmologist will perform a screening exam at 6 weeks of age.

Follow-up exams will then be performed until any ROP resolves, and the retina is fully vascularized. ROP is graded from 1 to 5 for severity. The process resolves spontaneously in most infants, but those infants who reach an advanced stage 3 of disease are at a high risk for detachment of the retina. These infants require treatment with laser therapy, which often can save the vision in the affected eye(s).

Anemia of prematurity

Because of blood sampling for tests and conditions that cause blood loss, such as inventricular hemorrhage, many preterm babies will require red blood cell transfusions. To decrease the number of transfusions given and to minimize donor exposure, preterm babies can be treated with the hormone erythropoietin, which stimulates red blood cell production in the body.

Hyperbilirubinemia (jaundice)

Virtually all preterm babies will develop jaundice. Jaundice is caused by an accumulation of the yellow pigment "bilirubin," which is the breakdown product of hemoglobin from the red blood cells. A preterm infant cannot effectively clear the bilirubin in the liver. If too much bilirubin accumulates in the blood, it can cause brain damage. To help these infants in clearing the bilirubin to prevent brain damage, they are placed under phototherapy ("bilirubin lights").

Infection

Some preterm deliveries are the result of an infection in the uterus, which also can lead to an infection in the baby. In addition, infants in the intensive care nursery are at an increased risk for infection due to indwelling lines and tubes, as well as a compromised immune ("infection fighting") system. Thus, the risk of infection is high. If there is concern that an infant might be infected or there is a proven infection, the infant is treated with antibiotics-an event that is likely to occur more than once during the nursery stay.

What needs to happen for my baby to go home?

Most preterm infants are ready for discharge at or a few weeks before their due date. The criteria for discharge include the ability to maintain body temperature in a crib, adequate oral intake to sustain consistent growth, and resolution of apneic and bradycardic spells. Occasionally, infants who are otherwise doing well may be sent home on partial tube feedings.

In addition, if A&B spells are not completely resolved, but are not felt to be life threatening, some physicians will send a baby home on a heart monitor. If an infant needs supplemental oxygen at discharge, a test needs to be performed prior to going home to be sure if the oxygen were to fall off that the blood oxygen does not drop to dangerously low levels.

What is the outcome for survivors of the intensive care nursery?

Neurodevelopmental handicaps may occur in survivors of the intensive care nursery. These handicaps include cerebral palsy, which can be severe enough to prevent a child from walking, and cognitive deficits, which can be severe enough to prevent a child from learning to talk or read. Fortunately, deficits this severe occur in the minority of survivors, but others may have lesser deficits that cause delayed motor development, learning disabilities, and behavioral disorders, such as attention deficit disorder (hyperactivity).

The rates of abnormalities are higher in babies of lower gestational age at birth, particularly those born at 25 weeks or less. Although ROP rarely causes blindness, vision problems may still occur. The frequency of hearing loss is increased compared to term infants. The consequences of chronic lung disease are an increased rate of hospital readmission during the first two years of life, a continued oxygen need, and an increased incidence of asthma-like symptoms.

Finally, preterm infants are at an increased risk for poor weight gain, and they may require nutritional supplements or special formulas. Most premature infants who "graduate" from an intensive care nursery do quite well; however, coordinated follow-up to address all of their needs is of paramount importance.

References

Fanaroff A.A., Martin R.J. (editors): Neonatal-Perinatal Medicine. Diseases of the Fetus and Infant, 6th ed., Mosby, 1997.

Zaichkin J.: Newborn Intensive Care. What Every Parent Needs to Know. NICU Ink, 1996.

About the Author

Dr. Rosenberg graduated from Vanderbilt Medical School in 1976. His Pediatric Residency was at the University of Colorado and his Neonatal Fellowship was fulfilled at Johns Hopkins University. He is the Director of Newborn Services at University Hospital in Denver and Professor of Pediatrics at the University of Colorado School of Medicine.

His professional interests include newborn brain injury and long-term follow up of high-risk newborns. Some of his personal interests include tennis, skiing and youth sports programs.

Copyright 2012 Adam A. Rosenberg, M.D., All Rights Reserved

Celiac Disease 

What is celiac disease?

Celiac disease, also called "sprue" and "gluten-sensitive enteropathy," is a chronic, lifelong condition in which certain cereal proteins in the diet lead to injury of the lining of the small intestine, or bowel. Gluten is an insoluble protein found in wheat, rye, and other grains. The cause of celiac disease is not clearly understood. A complex interaction between genetic and environmental factors causes celiac disease to develop in susceptible people who include wheat, rye, and barley cereals in their diet. An unknown third factor, possibly an infection or other triggering stimulus, may be required since many people with similar risk factors do not develop celiac disease.

Who gets celiac disease?

Celiac disease affects all ethnic groups. Most frequently affected are Caucasians, then Blacks, and, only rarely, Orientals. Based on blood tests, about 1% of the European population has evidence of celiac disease, and preliminary data suggests the same is true in the United States. Most people with celiac disease have a certain genetic type, which can be detected by screening. Although present in about 35% of the general U.S. population, over 90% of patients with celiac disease have this genetic type. How this genetic type predisposes individuals to developing celiac disease is unclear. Groups at risk for celiac disease include those with:

  • type 1 diabetes (5% to 10% have celiac disease),
  • a first-degree relative with type 1 diabetes or celiac disease (2% to 7% have celiac disease),
  • Down syndrome,
  • dermatitis herpetiformis (a skin rash),
  • IgA deficiency (a lack of the chief antibody in the mucous membranes of the gastrointestinal tract),
  • thyroid disease, and
  • other autoimmune deficiencies.

How does celiac disease cause disease?

Illness from celiac disease generally comes from two processes: injury to the intestine and from chronic inflammation. Upon biopsy (i.e., the removal of a small amount of tissue and/or fluid from a living body and its examination to confirm the presence of a disease), the small bowel injury has a typical appearance. White blood cells (lymphocytes) enter the lining of the small bowel. The usual ridges, like tall mountains and valleys, may become blunted, like small hills, or even flat, like the plains. The injured small bowel may lead to diarrhea and impaired absorption. Over time, nutritional deficiencies may develop, leading to poor growth; weight loss; short stature; delayed puberty; anemia; and a lack of "micronutrients," including vitamins A, E, and K; iron; zinc; and folic acid.

The second mechanism, chronic inflammation, may lead to a long-lasting ill feeling, with poor appetite, and possibly bone thinning and easy fractures, called osteoporosis. An eventual loss of regulation over the immune response has been thought to play a role in the increased risk for small bowel lymphoma noted in untreated celiac disease.

A similar inflammatory reaction may occur in the skin causing an itchy, scaly rash, called dermatitis herpetiformis, and is a non-intestinal indication of gluten sensitivity.

What are the common findings of celiac disease?

Celiac disease can be thought of as occurring in two forms: "symptomatic" and "silent." Both have positive blood tests for celiac disease-associated antibodies, and both have a typical injury on biopsy of the small intestine. In the symptomatic form, typical signs and symptoms are present. The most information about celiac disease is known from this type. Common findings include abdominal pain, chronic diarrhea with poor fat absorption (characterized as oily or greasy stools), vomiting, and nutritional deficiencies (iron deficiency anemia, bleeding due to vitamin K deficiency, and deficiencies of folic acid and zinc). Other findings include poor weight gain, weight loss, short stature, delayed puberty, abdominal distention and gas, and, in toddlers, irritability and edema (swelling of the feet, eyelids, and other soft tissues).

In contrast, affected individuals with the silent type feel fine, have mild or no symptoms, and do not know they have celiac disease. Less is known about silent celiac disease; although, it is about six times more common than symptomatic celiac disease. Whether silent celiac disease is a risk for the long-term complications seen in symptomatic celiac disease is unknown.

How is celiac disease diagnosed?

Most experts agree that if both the blood test and the small intestine biopsy are positive, then the diagnosis of celiac disease is made. The available blood tests include anti-endomyseal antibody, anti-gliadin antibody, and, the newest one, anti-transglutaminase antibody. These tests may be used separately or together, and are highly accurate in screening individuals for celiac disease. However, rarely, the antibody tests can be negative, especially in individuals with IgA deficiency and in young children.

A key in the proper diagnosis of celiac disease is improvement after starting a gluten-free diet. Symptoms should resolve, the antibody tests should become negative after 6 to 12 months of a strict gluten-free diet, and the small bowel injury should resolve completely. In difficult diagnostic cases, screening for DQ-2, the genetic marker of celiac disease, may be helpful. Previously, rechallenging the body with gluten to show a reappearance of the symptoms was required to diagnose celiac disease; but, now, it is rarely needed.

How is celiac disease treated?

Treatment for celiac disease first involves replacing deficient nutrients and choosing a gluten-free diet. If patients-especially toddlers-are severely ill, a short course of prednisone improves symptoms quickly. A lifelong gluten-free diet is the treatment for celiac disease. A gluten-free diet means avoiding foods containing wheat, rye, and barley proteins. Pure oats is probably allowable. Following a gluten-free diet is quite challenging, as these products are widespread in Western diet. However, within one week of the diet, irritability resolves, and appetite and energy level improve. Many people with silent celiac disease report feeling healthy for the first time, even though they never before complained of symptoms. If a gluten-free diet is not followed, celiac disease will always recur; however, it may take weeks to months.

What research is being done?

Current research includes: identifying risk groups for celiac disease; understanding the genetic predisposition and environmental triggers for developing celiac disease; and determining how silent celiac disease is similar to and different from symptomatic celiac disease, especially regarding growth, osteoporosis, and intestinal malignancy.

Are there other links to more information?

    • Celiac Sprue Association of the United States of America, Inc., P.O. Box 31700, Omaha, NE 68131-0700, phone number: (402) 558-0600. The Web site, of interest.
    • The Web site for the North American Society for Pediatric Gastroenterology and Nutrition, www.naspgn.org/disease_information.htm, provides information from pediatric gastroenterologists with sections for parents and for children. There is a nice section on foods that are "gluten-free"
    • Gluten Intolerance Group of North America, P.O. Box 23053, Seattle, WA 98102-0353, phone number: (206) 325-6980. Information provided includes newsletters, fact sheets, cookbooks, diet instructions, and videotapes.
    • Celiac Disease Foundation, P.O. Box 1265, Studio City, CA 91614-0265, phone number: (213) 654-4085.

About the Author

Dr. Hoffenberg is on staff at the Children's Hospital in Denver, the University of Colorado School of Medicine, and is the Director at the Center for Pediatric Inflammatory Bowel Diseases. His areas of specialty include Inflammatory Bowel Disease, Celiac Disease and Polyps.

Copyright 2012 Edward J. Hoffenberg, M.D., All Rights Reserved

Chickenpox 

What is varicella (or chickenpox)?

Varicella, commonly referred to as chickenpox, is an infectious disease that is caused by a virus. The infection produces a rash with fluid-filled "vesicles," or lesions, on the face and body.

What causes varicella (or chickenpox)?

The disease is caused by the varicella-zoster virus, or VZV, a member of the herpes family of viruses. As the name implies, it causes varicella, or chickenpox, as well as "zoster," or shingles. After a recovery from varicella, the virus remains in some of the body's nerve cells in an inactive, or "latent," state. After many decades, the virus may become active again, travel down the nerve cells, and produce a rash on the skin. This rash is similar to the rash produced by varicella; however, the rash in zoster occurs in one segment of the skin, on one side of the body, rather than all over the body, as in varicella. Occasionally, zoster occurs in children, but it most commonly occurs in older adults.

Who gets varicella (or chickenpox)?

Varicella occurs in children. Fewer than two percent of the cases occur in adults. About half of all children will have had varicella by the time that they enter school. Varicella can occur early in infancy, and it can occur in a newborn if the mother had chickenpox just before delivery. Varicella is very contagious. If there is a case of it in a household, there is only a 1 in 25 chance that individuals in the house who are susceptible to varicella will not be infected.

How does the varicella-zoster virus cause disease?

Varicella occurs following close contact with a person who has the disease. Children are contagious the day before the rash, which suggests that they are able to spread the disease from their respiratory tract. The virus is inhaled, and then multiplies in the newly infected person. It is transported in certain blood cells to the skin, where it multiplies and causes the skin lesions, or vesicles.

What are the common findings?

The most common finding of varicella is the fluid-filled skin vesicles, usually no more than an eighth of an inch in diameter, which may have a slight redness around them. They start centrally on the body, and then spread to the arms and the legs. Often, vesicles can be felt on the scalp before they can be seen on the skin. Scabbed or crusted lesions, or a flat or slightly raised red rash, may occur at the same time as the vesicles. Often, scratch marks will result from the scratching of a very itchy rash.

The temperature is generally 100oF to 102oF. There is a cause for concern if a temperature is greater than 103oF. Fussiness may occur, caused mainly by the itching. Respiratory and gastrointestinal symptoms are not usually associated with varicella.

How is varicella (or chickenpox) diagnosed?

Varicella is diagnosed simply by looking. Laboratory testing is rarely required; although, there are tests that can be performed. Chickenpox can be confused with insect bites, hand-foot-and-mouth disease, and rickettsialpox. A history of exposure to a person with either chickenpox or shingles about two weeks previously is helpful in making an accurate diagnosis.

How is varicella (or chickenpox) treated?

Medication to treat the fever rarely is required. Aspirin or aspirin-containing medications (look for "salicylate" on the label) should never be given to children with varicella, because it has been associated with Reye's syndrome. Acetaminophen may prolong the itching. Ibuprofen has been associated with a severe, complicated streptococcal disease, but this drug may have been given for relief of the complication, rather than for treatment of varicella; therefore, it cannot be causally related.

The itching may require treatment. Calomine lotion may be applied to the skin, or the child may bathe in an oatmeal bath (Aveno). The drying of the oatmeal on the skin after the bath may offer relief. Oral medications, such as Benadryl, also are available. Since it may cause sleepiness, Benadryl is best used at bedtime. Your doctor may recommend other oral medications, if necessary.

It is very important to keep the skin clean. Daily showers or baths, preferably with an antibacterial soap, is recommended. Phisohex is excellent, but it may be too drying. Bathing will not cause the rash to spread on the skin. The scratch marks on the skin of patients with varicella do not have vesicles, meaning that an individual cannot spread the virus by inoculating it into the skin or by bathing. It is best to prevent scratch marks by trimming a child's nails.

Although acyclovir-a specific antiviral drug that inhibits the growth of VZV-has been approved for use in children, there has been little enthusiasm for it. It must be given within 24 hours after the onset of the rash to be effective. The effect on a person's symptoms is minimal; however, they are statistically significant when compared to the symptoms of a person who has not had the drug. In adolescents and adults who have more severe chickenpox than children, acyclovir may be useful. The drug may be more effective in second cases in a family, where acyclovir can be obtained at the time of the first child's illness, and treatment can be started on the other children as soon as a rash appears. Second cases tend to be more severe than the first case in a family.

What are the complications?

Most cases of varicella are mild, and can be treated by applying ointment to the skin; however, some cases may require antibiotics. Rarely, cases are very severe. If your child develops a skin infection following varicella, us should evaluate it.

The most common complication of varicella is a bacterial infection of the skin. This can occur when the fever rises after several days of illness or redness appears on the skin. The skin also may be warm and tender. In a severe infection, pain may be a prominent symptom. In recent years, streptococcal skin infections have become more frequent, and require prompt attention.

Neurologic complications do occur with varicella. The most common complication occurs 1 in about 4,000 cases, and is characterized by difficulty with balance. Although this is frightening to the child and the parents, it generally gets better by itself with time. Loss of consciousness and convulsions with fever, headache, and vomiting may indicate encephalitis. This complication occurs 1 in about 40,000 cases, but it may be life threatening. In the past, before the warning about aspirin, similar symptoms were seen in Reye's syndrome. In any of these situations, your physician should be contacted.

There are a number of less common complications that include, among others, bleeding disorders, joint involvement, and kidney problems.

How is varicella (or chickenpox) prevented?

Avoiding contact with those individuals who are affected with chickenpox can prevent it; however, this is very difficult. Many children are not even aware that they have been exposed. Protecting children from varicella is cumbersome, as they must be kept from school and other activities.

Immunization is the only practical way to prevent varicella. A live attenuated (weakened) varicella vaccine is recommended for all children who have passed their first birthday and have not had chickenpox. Children under 12 years of age require only a single injection; adolescents and adults are given two injections. The vaccine has few side effects; tenderness or pain at the injection site is the most common. Occasionally, a child may have a few chickenpox lesions on the injection side or over the trunk. The vaccine is effective in preventing or modifying varicella. In persons who have had the vaccine and still developed varicella, their cases have been extremely mild.

There are two concerns about the vaccine: how long immunity will last, and whether zoster will be a greater problem later in life in vaccinated children than in children who actually had chickenpox. There is no reason to suspect that zoster will be a problem since children who have had the vaccine do not seem to get it more frequently, and children with leukemia who were vaccinated had zoster less frequently.

Chickenpox is a much more severe disease in adults than in children. Most children will be immunized during childhood, and it is anticipated that there will be fewer cases of varicella. Therefore, children who are not immunized during childhood will have a decreased chance of contracting chickenpox as an adult. However, children who are not vaccinated will be susceptible adults, and, if infected, may get a severe case of chickenpox. If vaccine immunity should decrease, it is likely that there may be partial immunity, which will modify the severity of chickenpox in an adult who was immunized as a child. At the present time, there is no evidence to suggest that the protection produced by the vaccine will be lost.

In persons who are exposed to varicella, the antiviral drug, acyclovir, may be given. An injection of Varicella-Zoster Immune Globulin (VZIG) is used to protect adults and children who have compromised immune systems (e.g., those receiving high doses of steroids or children with leukemia), if they are exposed to chickenpox. This injection is very expensive (about $500), and it provides protection for only a few weeks. Thus, it is necessary to give it at the time of each exposure. However, many individuals will get chickenpox following an exposure of which they were unaware.

What research is being done?

Efforts continue to find better drugs to treat varicella. In addition, basic research is being conducted to better understand why the virus becomes latent and why it becomes activated to cause zoster. Currently, there is a study, which eventually will have 37,000 participants, to determine whether a stronger varicella vaccine can prevent shingles in people over 60 years of age.

Links to other information

http://www.cdc.gov/vaccines/pubs/vis/downloads/vis-varicella.pdf

References

Brunell, P.A. Varicella-Zoster (Chickenpox) in Rudolph's Pediatrics, 20th ed., Appleton and Lange, Stamford, CT, 1996.

Report of the Committee on Infectious Diseases, American Academy of Pediatrics, Elk Grove Village, IL, 1997.

Copyright 2012 Philip Alfred Brunell, M.D., All Rights Reserved

Chickenpox Immunization 

Why get vaccinated?

Chickenpox (also called varicella) is a common childhood disease. It is usually mild, but it can be serious, especially in young infants and adults.

  • It causes a rash, itching, fever, and tiredness.
  • It can lead to severe skin infection, scars, pneumonia, brain damage, or death.
  • The chickenpox virus can be spread from person to person through the air, or by contact with fluid from chickenpox blisters.
  • A person who has had chickenpox can get a painful rash called shingles years later.
  • Before the vaccine, about 11,000 people were hospitalized for chickenpox each year in the United States.
  • Before the vaccine, about 100 people died each year as a result of chickenpox in the United States.

Chickenpox vaccine can prevent chickenpox.

Most people who get chickenpox vaccine will not get chickenpox. But if someone who has been vaccinated does get chickenpox, it is usually very mild. They will have fewer blisters, are less likely to have a fever, and will recover faster.

Who should get chickenpox vaccine and when?

Routine

Children who have never had chickenpox should get 2 doses of chickenpox vaccine at these ages:

  • 1st Dose: 12-15 months of age
  • 2nd Dose: 4-6 years of age (may be given earlier, if at least 3 months after the 1st dose)

People 13 years of age and older (who have never had chickenpox or received chickenpox vaccine) should get two doses at least 28 days apart.

Catch-up

Anyone who is not fully vaccinated, and never had chickenpox, should receive one or two doses of chickenpox vaccine. The timing of these doses depends on the person’s age. Ask your doctor.

Chickenpox vaccine may be given at the same time as other vaccines.

Note: A "combination" vaccine called MMRV, which contains both chickenpox and MMR vaccines, may be given instead of the two individual vaccines to people 12 years of age and younger.

Some people should not get chickenpox vaccine or should wait.

  • People should not get chickenpox vaccine if they have ever had a life-threatening allergic reaction to a previous dose of chickenpox vaccine or to gelatin or the antibiotic neomycin.
  • People who are moderately or severely ill at the time the shot is scheduled should usually wait until they recover before getting chickenpox vaccine.
  • Pregnant women should wait to get chickenpox vaccine until after they have given birth. Women should not get pregnant for 1 month after getting chickenpox vaccine.
  • Some people should check with their doctor about whether they should get chickenpox vaccine, including anyone who:
    • Has HIV/AIDS or another disease that affects the immune system
    • Is being treated with drugs that affect the immune system, such as steroids, for 2 weeks or longer
    • Has any kind of cancer
    • Is getting cancer treatment with radiation or drugs
  • People who recently had a transfusion or were given other blood products should ask their doctor when they may get chickenpox vaccine. Ask your provider for more information.

Ask your doctor for more information.

What are the risks from chickenpox vaccine?

A vaccine, like any medicine, is capable of causing serious problems, such as severe allergic reactions. The risk of chickenpox vaccine causing serious harm, or death, is extremely small.

Getting chickenpox vaccine is much safer than getting chickenpox disease. Most people who get chickenpox vaccine do not have any problems with it. Reactions are usually more likely after the first dose than after the second.

Mild problems

  • Soreness or swelling where the shot was given (about 1 out of 5 children and up to 1 out of 3 adolescents and adults)
  • Fever (1 person out of 10, or less)
  • Mild rash, up to a month after vaccination (1 person out of 25). It is possible for these people to infect other members of their household, but this is extremely rare.

Moderate problems

  • Seizure (jerking or staring) caused by fever (very rare).

Severe problems

  • Pneumonia (very rare)

Other serious problems, including severe brain reactions and low blood count, have been reported after chickenpox vaccination. These happen so rarely experts cannot tell whether they are caused by the vaccine or not. If they are, it is extremely rare.

Note: The first dose of MMRV vaccine has been associated with rash and higher rates of fever than MMR and varicella vaccines given separately. Rash has been reported in about 1 person in 20 and fever in about 1 person in 5.

Seizures caused by a fever are also reported more often after MMRV. These usually occur 5-12 days after the first dose.

What if there is a serious reaction?

What should I look for?

  • Look for anything that concerns you, such as signs of a severe allergic reaction, very high fever, or behavior changes.

    Signs of a severe allergic reaction can include hives, swelling of the face and throat, difficulty breathing, a fast heartbeat, dizziness, and weakness. These would start a few minutes to a few hours after the vaccination.

What should I do?

  • If you think it is a severe allergic reaction or other emergency that can’t wait, call 9-1-1 or get the person to the nearest hospital. Otherwise, call your doctor.
  • Afterward, the reaction should be reported to the Vaccine Adverse Event Reporting System (VAERS). Your doctor might file this report, or you can do it yourself through the VAERS website, or by calling 1-800-822-7967.

VAERS is only for reporting reactions. They do not give medical advice.

The National Vaccine Injury Compensation Program

The National Vaccine Injury Compensation Program (VICP) is a federal program that was created to compensate people who may have been injured by certain vaccines.

Persons who believe they may have been injured by a vaccine can learn about the program and about filing a claim by calling 1-800-338-2382 or visiting the VICP website.

How can I learn more?

Coarctation of the Aorta 

What is coarctation of the aorta?

Coarctation of the aorta is a narrowing of the aorta that causes a blockage to blood flow. Most coarctations are congenital (meaning they are present at birth) and usually are discovered in infancy; however, some coarctations can develop over time. The narrowing may be discrete or may extend over a long segment. Most coarctations are located in the chest, and rarely they can occur in the abdomen. "Simple" is the term used to describe coarctations that are isolated; "complex" is the term used to describe coarctations that are associated with other congenital heart disease. Types of congenital heart disease associated with coarctation include ventricular septal defect (an abnormal hole between the two ventricles), atrioventricular canal (an abnormal connection between the atrium and the ventricle), and double outlet right ventricle (two exit vessels from the ventricle, rather than one).

Who gets coarctation of the aorta?

Coarctation of the aorta is one of the more common forms of congenital heart disease. It is twice as common in boy as in girls. Coarctation rarely runs in families. The only syndrome that has a strong association with coarctation is Turner's syndrome, a condition in which a girl has only one instead of two X chromosomes.

What are the effects of this defect on my child's health?

Infants with coarctation frequently have congestive heart failure (the heart cannot keep up with its workload, so it starts to fail). A narrowing of the aorta results in a selective elevation in blood pressure in the upper extremity blood vessels and, ultimately, in an increase in heart work. In some newborns with coarctation, closure of the ductus arteriosus results in an acute increase in heart work. If the coarctation is severe, the increased heart work results in the development of congestive heart failure. In infants with milder degrees of coarctation, the heart adapts to the increase in work, and heart failure does not occur.

The cardiovascular system has two ways to respond to the increased work produced by coarctation of the aorta. The first way the body compensates for the increased cardiac workload is to develop extra heart muscle (myocardial hypertrophy). The second way is to develop collateral vessels to bypass the aortic obstruction. As the child develops these alternate blood channels, the blood pressure and the cardiac work are reduced, and there is an improvement in blood supply to the abdominal organs, such as the liver, the gastrointestinal tract, and the kidneys.

Cardiovascular lesions can aggravate the heart's burden associated with coarctation. The presence of a coarctation will increase the amount of blood flow across a ventricular septal defect, making a small hole act (as far as the heart is concerned) as if it were a large hole.

How is this problem diagnosed?

Clinical features of coarctation

Most children with coarctation have no symptoms. In older children, if symptoms are present, they are usually nonspecific and relate either to high blood pressure (hypertension) in the upper part of the body, causing headaches or frequent nose bleeds, or to reduced blood supply to the lower extremities (e.g., exercise-induced leg pain, claudication).

In infancy, coarctation can be associated with congestive heart failure. Although heart failure can develop in an infant at any time during the first six months, it typically develops during the first six weeks. The major features associated with heart failure are a rapid heart and respiratory rate and poor weight gain. The infant in heart failure needs to be diagnosed and treated immediately, since the infant rapidly can develop shock that can result in death.

Physical findings in coarctation

The hallmarks of coarctation of the aorta are absent leg pulses and a difference in blood pressure between the arms and the legs (i.e., high blood pressure in the arms and low to normal blood pressure in the legs). The typical heart murmur associated with a coarctation is a systolic murmur that is loudest in the back below the left shoulder blade (scapula). If a prominent back murmur is not heard and the child has a blood pressure difference between the arms and the legs, a coarctation located in the abdomen should be considered.

Laboratory findings in coarctation

The chest x-ray can be very helpful in suggesting the presence of coarctation of the aorta. However, the diagnosis usually is confirmed by an echocardiogram (a specialized ultrasound of the heart). A heart catheterization is performed only if the coarctation cannot be adequately documented by the echocardiogram or to treat the coarctation with the use of a balloon angioplasty.

How is coarctation of the aorta treated?

Management of a patient with coarctation of the aorta must be individualized. In children without symptoms, in whom a coarctation is diagnosed on routine examination, repair of the coarctation-either surgically or using balloon angioplasty at a cardiac catheterization-is not recommended before 18 to 24 months of age.

In the newborn or infant with coarctation who presents in congestive heart failure, initial treatment consists of stabilizing the infant with medications. These medications include agents that increase the strength of the heartbeat, inotropic agents, and agents that help the body remove excess fluids, diuretics. If the infant is less than two weeks of age, a medicine (prostaglandin E1) will be administered to keep open the ductus arteriosus. The most critically ill babies will require the use of a ventilator to assist with breathing. After a brief period of stabilization, all infants with coarctation and congestive heart failure require surgical repair.

Surgical repair involves removal of the narrowed segment of aorta. In some children, it is necessary to place a piece of artifical material (e.g., Dacron, Gore-Tex) to enlarge the area of narrowing or to bypass the area of narrowing. A balloon angioplasty is performed at the time of a heart catheterization. The angioplasty involves the placement of a special balloon catheter across the narrowed area and then inflating the balloon, thereby stretching open the aorta.

Why treat children with coarctation of the aorta?

Untreated coarctation of the aorta significantly reduces life expectancy, with death frequently occurring within a patient's fourth to fifth decade. Causes of death in individuals with unoperated coarctation of the aorta include congestive heart failure, aortic rupture (the aorta bursts), bacterial endocarditis (an infection of the heart), and stroke.

What is the outlook for children with coarctation of the aorta?

The long-term outlook for children who have had their coarctation repaired, either with surgery or angioplasty, is excellent. Children who have successful repair of coarctation usually can live full and productive lives. Women usually can become pregnant safely. However, medical problems can occur after repair.

Recoarctation

Recoarctation is the redevelopment of a narrowing in the aorta. This problem occurs more commonly in children who have had their coarctation repaired during the first year of life. Recoarctation occurs in approximately 10% to 20% of children who have had their repair in infancy, and in less than 3% of children who have had their repair after 3 years of age. Treatment of recoarctation of the aorta usually is with a balloon angioplasty.

High blood pressure

High blood pressure is one of the most common medical problems seen in patients after successful repair of coarctation. Approximately 60% of people who have had their coarctation repaired will require medication to treat high blood pressure in adulthood.

Other medical problems

Other medical problems, which are seen rarely in people after successful repair of coarctation, include the development of aneurysms in the aorta, the early development of coronary artery disease, the development of disease to the aortic valve, and the development of a stroke.

References

Beekman R, Rocchini A. Coarctation of the aorta and interruption of the aortic arch. In: Moller J, Neal W, eds. Fetal, neonatal, and infant cardiac disease. Norwalk, CT: Appleton and Lange, 1990:497-521.

Keith J. Coarctation of the aorta. In: Keith J, Rowe R, Valad P, eds. Heart disease in infancy and children. New York: MacMillan, 1978.

About the Author

Dr. Rocchini received both his bachelor of science degree in chemical engineering and his medical degree from the University of Pittsburgh. He completed his pediatric residency at the University of Minnesota and his pediatric cardiology fellowship at the Children's Hospital of Boston. Dr. Rocchini is currently a professor of pediatrics and serves as director of pediatric cardiology at the University of Michigan. His research interests include interventional cardiac catheterization and obesity-induced hypertension.

Copyright 2012 Albert P. Rocchini, M.D., All Rights Reserved

Congenital Hip Dysplasia 

What is Developmental Dysplasia of the Hip?

Developmental dysplasia of the hip (aka Congenital Hip Dysplasia) is generally identified in the newborn period. The term describes a spectrum of hip problems that ranges from mild movement of the femur (upper leg bone) in the acetabulum (cartilaginous lining of the hip) to complete dislocation of the femur from the acetabulum. The femur is dependent on the proper formation of the acetabulum to help keep the femur in a stable environment. Instability (movement or subluxation) in the hip of a newborn can lead to abnormal development of the hip joint.

What Causes Developmental Dysplasia of the Hip?

Multiple factors may result in the development of an unstable hip joint. Children who have been in a breech position prior to delivery are at a higher risk of developing this condition. Low amniotic fluid (oligohydramnios) or a small uterus (in a first born child) may result in improper positioning of the femurs in respect to the hip joint.

Who gets Developmental Dysplasia of the Hip?

First-born female newborns are more prone to developing this condition. It generally occurs in 0.5 - 2% of all live births. The presence of a breech position or a positive family history are other factors that will increase the risk.

What are the Symptoms of Developmental Dysplasia of the Hip?

Your child's health care provider will examine your infant at birth or at the two week visit for certain signs of a dysplastic hip. At times, the provider may identify a click with movement of the femur. This should not be mistaken for instability of the hip for 10% of normal newborns will have a click. As a child gets older, she or he may develop a limp, hip pain or, rarely, some degenerative disease in the hip if the condition is not treated properly.

How is Developmental Dysplasia of the Hip Diagnosed?

The Ortalani and Barlow maneuvers will be done by your child's health practitioner to detect mild or significant subluxation of the hips. The symmetry of the gluteal fold (the fold of skin below each buttocks) is closely examined (although normal children can have an asymmetric fold). When your child's practitioner is suspicious of dyplasia, an ultrasound of the hips will be obtained to look for abnormalities of the hip as well as subluxation.

How is Developmental Dysplasia of the Hip Treated?

A Pavlik harness can be used to align the femur and acetabulum so that proper growth and development of the hip joint can take place. This harness is effective 95% of the time if it is used prior to 6 months of age. The harness bends the legs at the knee, as well as bends the hip at approximately 90 degrees, placing the femur in an ideal location within the acetabular space. The harness is worn 24 hours a day for a minimum of 6 weeks.

A plain x-ray of the hip may occasionally be required to monitor the progress of the hip.

What are the complications of Developmental Dysplasia of the Hip?

In rare circumstances, a child will require surgery to repair the hip joint. Poor vascularization of the head of the femur is a rare complication.

References

American Academy of Pediatrics. Clinical Practice Guideline: Early Detection of Developmental Dysplasia of the Hip.

Reviewed by: Daniel J. Feiten MD

This Article contains the comments, views and opinions of the Author at the time of its writing and may not necessarily reflect the views of Pediatric Web, Inc., its officers, directors, affiliates or agents. No claim is made by Pediatric Web, the Author, or the Author's medical practice regarding the effectiveness and reliability of the statements contained herein and such individuals and entities disclaim any and all liability for the comments and statements contained in this Article and for any use or misuse of the statements made in this article in any specific medical situations. Further, this Article is intended to be general in nature and shall not be considered medical advice. The statements made are not to be utilized to diagnose and/or treat any individual's medical symptoms. If you or someone you know has symptoms which you believe are similar to this Article, you should discuss such symptoms with your personal physician or other qualified medical practitioner.

Coxsackie A16 

Hand, foot, and mouth disease is a common viral illness that usually affects infants and children younger than 5 years old. However, it can sometimes occur in adults. Symptoms of hand, foot, and mouth disease include fever, blister-like sores in the mouth (herpangina), and a skin rash.

Hand, foot, and mouth disease is caused by viruses that belong to the Enterovirus genus (group). This group of viruses includes polioviruses, coxsackieviruses, echoviruses, and enteroviruses.

  • Coxsackievirus A16 is the most common cause of hand, foot, and mouth disease in the United States, but other coxsackieviruses have been associated with the illness.
  • Enterovirus 71 has also been associated with hand, foot, and mouth disease and outbreaks of this disease.

Hand, foot, and mouth disease is often confused with foot-and-mouth disease (also called hoof-and-mouth disease), a disease of cattle, sheep, and swine. However, the two diseases are caused by different viruses and are not related. Humans do not get the animal disease, and animals do not get the human disease. For more information, see the U.S. Department of Agriculture National Agricultural Library, Foot-and-Mouth Disease.

Cyclic Vomiting Syndrome (CVS) 

What is cyclic vomiting syndrome?

Cyclic vomiting syndrome, or CVS, is a disorder characterized by recurrent and severe episodes of vomiting. Because its cause is unknown and there is not a laboratory test for it, this condition is considered a syndrome, rather than a disease.

What causes cyclic vomiting syndrome?

Currently, there is no known cause of CVS. The main theory to its cause is that CVS may be related to migraine headaches. It also is suspected that it is a "brain-gut" disorder in which a trigger within the brain signals the gut to begin vomiting. Other theories to its cause also are being investigated (see the What research is being done? section).

Who gets cyclic vomiting syndrome?

Children between the ages of 4 and 11 years most often are affected with CVS; however, newborns and adults can develop it. Slightly more girls than boys experience this syndrome.

What are the common findings?

The main symptom is relentless vomiting, often three to six times per hour at the peak of the worst episode. Many children state that the unremitting nausea is the worst symptom because they do not experience momentary relief from the vomiting.

Other common gastrointestinal symptoms include loss of appetite, nausea, dry heaving, and abdominal pain. Diarrhea occurs in one-third of the children who have CVS. Common general symptoms include paleness and listlessness.

Fever occurs in one-third of the children. Typical symptoms of migraine headaches and sensitivity to lights occur in less than one-half of those children who experience CVS. During these episodes, children are sicker than if they had the stomach flu.

There is a timing pattern to this syndrome. The episodes most often occur in the early morning hours, between 2 a.m. and 4 a.m., or upon awakening; however, they can occur at any time of the day.

The term "cyclic" refers to the predictable period between episodes. However, only one-half of the children have predictable intervals, most commonly every two or four weeks, and one-half of the children have attacks that occur at irregular intervals. Episodes rarely occur more than twice a week, and they can be as infrequent as 6 to 12 months apart.

The episodes can be triggered by various life events. The most common include viral infections, such as colds and sinusitis, and psychological stress that occurs at school or even during holidays, vacations, and birthdays.

Dietary cheese, chocolate and monosodium glutamate, long car rides, physical exhaustion, and allergies also trigger cause it. In teenage girls, menstruation can precipitate episodes.

Fortunately, CVS usually resolves itself as the child enters adolescence; however, it can persist into adulthood. In some cases, it begins in adulthood. For those children in whom it stops completely, one-third of them develop typical migraine headaches.

How is cyclic vomiting syndrome diagnosed?

A test to diagnose CVS is not available. At the first international symposium on CVS in 1994, an international committee developed its diagnostic criteria.

The three main criteria included are:

  • Recurrent, severe episodes of vomiting
  • Normal health between episodes
  • No cause of vomiting found on testing

The four supportive criteria included:

  • Each episode is similar to the other episodes
  • Episodes resolve if they are left untreated
  • Associated symptoms of nausea, abdominal pain, headache, motion sickness, and sensitivity to lights
  • Associated signs of fever, paleness, diarrhea, dehydration, and excess salivation

Most often, cyclic vomiting syndrome is confused with stomach flu or viral gastroenteritis. The symptoms of vomiting, when combined with fever and diarrhea, can be indistinguishable from those with the stomach flu. In addition, the physician often does not appreciate the overall pattern of recurrence.

Several serious disorders can be confused with CVS, including malrotation with volvulus (twisted and kinked small intestine), brain tumors, acute hydronephrosis (swelling of the kidneys), Addison's disease (lack of cortisol hormone), various metabolic disorders (problems processing nutrition or waste products), and psychological disturbances.

Although a diagnostic test for CVS is not available, laboratory testing (blood and urine), x-rays (intestines, kidney, and brain), and endoscopic (stomach) testing can be used to exclude the most serious disorders. For example, if a twisted, or malrotated, intestine appears to be the cause of the vomiting, a child would be diagnosed with malrotation, not CVS.

A family physician, a pediatrician, a pediatric gastroenterologist, or a pediatric neurologist may arrange the specific tests. The amount of testing that is requested is up to the doctor's best judgment.

How is cyclic vomiting syndrome treated?

Because there have not been definitive studies on treatment, there is not a standard recommended therapy for CVS. However, there are effective medications. Five approaches are used in treating CVS, including care during the episode itself, medicines to break the attack once it starts, avoidance of known triggers, medicines used to prevent the next episode, and family support.

The first two treatment approaches are discussed in this section. The second two treatment approaches are discussed in the How can cyclic vomiting syndrome be prevented? section. The final treatment approach is discussed in the Links to other information section.

Care during the episode

Intravenous sugar (dextrose) and fluids often help to correct dehydration. Although the pain can be severe, it usually does not require narcotic drugs. Although the vomiting can be lessened by medications, the nausea often persists. Sometimes, sedation with diphenhydramine, lorazepam, or chlorpromazine is the only way to lessen the nausea.

Medicines to break the attack

Medications used to break an attack are given at the start of the episode. They include anti-vomiting medicines, such as ondansetron and granisetron, which are administered intravenously, and promethazine and prochlorperazine, which are administered rectally or by shot.

Although widely used, the latter two drugs are not very effective in treating CVS. Anti-migraine medications can also be used. Oral agents, such as Midrin, are often ineffective because they are expelled by vomiting. Oral and nasal sumatriptan have been used in a few children with CVS, but they have not been studied for proper dosage, safety, or effectiveness.

What are the complications?

Fortunately, there does not appear to be serious long-term complications associated with CVS. However, despite being sick only intermittently, children miss 2 to 4 weeks of school and require intravenous fluids at the hospital 50% of the time. Unfortunately, the correct diagnosis of CVS typically is not made for two and one-half years.

How can cyclic vomiting syndrome be prevented?

Avoidance of known triggers

In a few cases, known triggers of CVS can be avoided to prevent episodes, e.g., having the parents eliminate chocolate and/or cheese from the child's diet.

Medicines used to prevent episodes

To prevent episodes of CVS, migraine (propranolol, cyproheptadine, and amitriptyline), seizure (phenobarbital and phenytoin), or stomach (ranitidine, erythromycin, and cisapride) medications can be taken daily. Most of these medications have been studied in children, and they are widely used.

A physician should choose the appropriate medication, with the least amount of side effects, for a child. Although none of the medications are 100% effective, most of them reduce the severity of CVS in half of the children.

What research is being done?

The cause of CVS is unknown; it is not known whether it is a disorder of the brain, the gut, or another organ. There are several new theories about how CVS is caused, and research is being conducted on each theory. Many children with CVS may have an underlying, but atypical, migraine disorder that primarily causes vomiting and abdominal pain rather than headache.

Some children are thought to have a mitochondrial disorder (energy factory for each cell) that affects respiratory chain or fatty acid metabolism. Other children are thought to have a disorder of the hypothalamus (brain thermostat) that produces excess stress hormones.

Some children are thought to have a dysmotility (pumping disorder) of the intestinal tract. New medications to treat both vomiting and stress-induced disorders are being developed by pharmaceutical companies.

Links to other information?

Family support

Often, parents are stressed by this repetitive, unpredictable, and disruptive illness. They watch their child become ill and hospitalized, they do not know what is causing the illness, they miss work, and physicians often do not take the recurrent illness seriously. The parents and the child can benefit from the support of other families with the same illness.

Mailing Address:

Cyclic Vomiting Syndrome Association

Ms. Debra Waites, Administrator

3585 Cedar Hill Rd, NW

Canal Winchester, Ohio 43110

Phone: (614) 837-2586

Web Site: http://www.cvsaonline.org/

Listserv: majordomo@jatek.net

References

Fleisher DR, Matar M. The cyclic vomiting syndrome: a report of 71 cases and literature review. J Pediatr Gastroenterol Nutr 1993 Nov;17(4):361-9.

Li BUK, ed. Proceedings of the International Symposium on Cyclic Vomiting Syndrome J Pediatr Gastroenterol Nutr 1995;21(Suppl.):S1-S62.

Li BUK, Issenman RM, Sarna SK, eds. Proceedings of the 2nd International Symposium on Cyclic Vomiting Syndrome Dig Dis Sci 1999;44(Suppl.):1S-120S.

Li BUK, Murray RD, Heitlinger LA, Robbins JL, Hayes JR. Heterogeneity of diagnoses presenting as cyclic vomiting. Pediatrics 1998 Sep;102(3):583-7.

Li BUK, Murray RD, Heitlinger LA, Robbins JL, Hayes JR. Is cyclic vomiting syndrome related to migraine? J Pediatr 1999 May;134(5):567-72.

Author's Biography

Fleisher DR, Matar M. The cyclic vomiting syndrome: a report of 71 cases and literature review. J Pediatr Gastroenterol Nutr 1993 Nov;17(4):361-9.

Li BUK, ed. Proceedings of the International Symposium on Cyclic Vomiting Syndrome J Pediatr Gastroenterol Nutr 1995;21(Suppl.):S1-S62.

Li BUK, Issenman RM, Sarna SK, eds. Proceedings of the 2nd International Symposium on Cyclic Vomiting Syndrome Dig Dis Sci 1999;44(Suppl.):1S-120S.

Li BUK, Murray RD, Heitlinger LA, Robbins JL, Hayes JR. Heterogeneity of diagnoses presenting as cyclic vomiting. Pediatrics 1998 Sep;102(3):583-7.

About the Author

Dr. Li is the Director of Gastroenterology at Children's Memorial Hospital in Chicago, IL. He is Professor of Pediatrics at Northwestern University. His primary research interests are in Cyclic Vomiting Syndrome and outcomes in H. Pylori Gastritis. He is a fitness buff and a soccer dad on the side.

Copyright 2012 B U.K. Li, M.D., All Rights Reserved

Depression 

What Is Depression?

Everyone occasionally feels blue or sad. But these feelings are usually short-lived and pass within a couple of days. When you have depression, it interferes with daily life and causes pain for both you and those who care about you. Depression is a common but serious illness.

Many people with a depressive illness never seek treatment. But the majority, even those with the most severe depression, can get better with treatment. Medications, psychotherapies, and other methods can effectively treat people with depression.

There are several forms of depressive disorders.

Major depression,—severe symptoms that interfere with your ability to work, sleep, study, eat, and enjoy life. An episode can occur only once in a person’s lifetime, but more often, a person has several episodes.

Persistent depressive disorder—depressed mood that lasts for at least 2 years. A person diagnosed with persistent depressive disorder may have episodes of major depression along with periods of less severe symptoms, but symptoms must last for 2 years.

Some forms of depression are slightly different, or they may develop under unique circumstances. They include:

  • Psychotic depression, which occurs when a person has severe depression plus some form of psychosis, such as having disturbing false beliefs or a break with reality (delusions), or hearing or seeing upsetting things that others cannot hear or see (hallucinations).
  • Postpartum depression, which is much more serious than the "baby blues" that many women experience after giving birth, when hormonal and physical changes and the new responsibility of caring for a newborn can be overwhelming. It is estimated that 10 to 15 percent of women experience postpartum depression after giving birth.
  • Seasonal affective disorder (SAD), which is characterized by the onset of depression during the winter months, when there is less natural sunlight. The depression generally lifts during spring and summer. SAD may be effectively treated with light therapy, but nearly half of those with SAD do not get better with light therapy alone. Antidepressant medication and psychotherapy can reduce SAD symptoms, either alone or in combination with light therapy.

Bipolar disorder, also called manic-depressive illness, is not as common as major depression or persistent depressive disorder. Bipolar disorder is characterized by cycling mood changes—from extreme highs (e.g., mania) to extreme lows (e.g., depression).

Causes

Most likely, depression is caused by a combination of genetic, biological, environmental, and psychological factors.

Depressive illnesses are disorders of the brain. Brain-imaging technologies, such as magnetic resonance imaging (MRI), have shown that the brains of people who have depression look different than those of people without depression. The parts of the brain involved in mood, thinking, sleep, appetite, and behavior appear different. But these images do not reveal why the depression has occurred. They also cannot be used to diagnose depression.

Some types of depression tend to run in families. However, depression can occur in people without family histories of depression too. Scientists are studying certain genes that may make some people more prone to depression. Some genetics research indicates that risk for depression results from the influence of several genes acting together with environmental or other factors. In addition, trauma, loss of a loved one, a difficult relationship, or any stressful situation may trigger a depressive episode. Other depressive episodes may occur with or without an obvious trigger.

Signs & Symptoms

"It was really hard to get out of bed in the morning. I just wanted to hide under the covers and not talk to anyone. I didn't feel much like eating and I lost a lot of weight. Nothing seemed fun anymore. I was tired all the time, and I wasn't sleeping well at night. But I knew I had to keep going because I've got kids and a job. It just felt so impossible, like nothing was going to change or get better."

People with depressive illnesses do not all experience the same symptoms. The severity, frequency, and duration of symptoms vary depending on the individual and his or her particular illness.

Signs and symptoms include:

  • Persistent sad, anxious, or "empty" feelings
  • Feelings of hopelessness or pessimism
  • Feelings of guilt, worthlessness, or helplessness
  • Irritability, restlessness
  • Loss of interest in activities or hobbies once pleasurable, including sex
  • Fatigue and decreased energy
  • Difficulty concentrating, remembering details, and making decisions
  • Insomnia, early-morning wakefulness, or excessive sleeping
  • Overeating, or appetite loss
  • Thoughts of suicide, suicide attempts
  • Aches or pains, headaches, cramps, or digestive problems that do not ease even with treatment.

Who Is At Risk?

Major depressive disorder is one of the most common mental disorders in the United States. Each year about 6.7% of U.S adults experience major depressive disorder. Women are 70 % more likely than men to experience depression during their lifetime.  Non-Hispanic blacks are 40% less likely than non-Hispanic whites to experience depression during their lifetime.  The average age of onset is 32 years old. Additionally, 3.3% of 13 to 18 year olds have experienced a seriously debilitating depressive disorder.

Diagnosis

"I started missing days from work, and a friend noticed that something wasn't right. She talked to me about the time she had been really depressed and had gotten help from her doctor."

Depression, even the most severe cases, can be effectively treated. The earlier that treatment can begin, the more effective it is.

The first step to getting appropriate treatment is to visit a doctor or mental health specialist. Certain medications, and some medical conditions such as viruses or a thyroid disorder, can cause the same symptoms as depression. A doctor can rule out these possibilities by doing a physical exam, interview, and lab tests. If the doctor can find no medical condition that may be causing the depression, the next step is a psychological evaluation.

The doctor may refer you to a mental health professional, who should discuss with you any family history of depression or other mental disorder, and get a complete history of your symptoms. You should discuss when your symptoms started, how long they have lasted, how severe they are, and whether they have occurred before and if so, how they were treated. The mental health professional may also ask if you are using alcohol or drugs, and if you are thinking about death or suicide.

Other illnesses may come on before depression, cause it, or be a consequence of it. But depression and other illnesses interact differently in different people. In any case, co-occurring illnesses need to be diagnosed and treated.

Anxiety disorders, such as post-traumatic stress disorder (PTSD), obsessive-compulsive disorder, panic disorder, social phobia, and generalized anxiety disorder, often accompany depression. PTSD can occur after a person experiences a terrifying event or ordeal, such as a violent assault, a natural disaster, an accident, terrorism or military combat. People experiencing PTSD are especially prone to having co-existing depression.

Alcohol and other substance abuse or dependence may also co-exist with depression. Research shows that mood disorders and substance abuse commonly occur together.

Depression also may occur with other serious medical illnesses such as heart disease, stroke, cancer, HIV/AIDS, diabetes, and Parkinson's disease. People who have depression along with another medical illness tend to have more severe symptoms of both depression and the medical illness, more difficulty adapting to their medical condition, and more medical costs than those who do not have co-existing depression. Treating the depression can also help improve the outcome of treating the co-occurring illness.

Treatments

Once diagnosed, a person with depression can be treated in several ways. The most common treatments are medication and psychotherapy.

Medication

Antidepressants primarily work on brain chemicals called neurotransmitters, especially serotonin and norepinephrine. Other antidepressants work on the neurotransmitter dopamine. Scientists have found that these particular chemicals are involved in regulating mood, but they are unsure of the exact ways that they work. The latest information on medications for treating depression is available on the U.S. Food and Drug Administration (FDA) website .

Popular newer antidepressants

Some of the newest and most popular antidepressants are called selective serotonin reuptake inhibitors (SSRIs). Fluoxetine (Prozac), sertraline (Zoloft), escitalopram (Lexapro), paroxetine (Paxil), and citalopram (Celexa) are some of the most commonly prescribed SSRIs for depression. Most are available in generic versions. Serotonin and norepinephrine reuptake inhibitors (SNRIs) are similar to SSRIs and include venlafaxine (Effexor) and duloxetine (Cymbalta).

SSRIs and SNRIs tend to have fewer side effects than older antidepressants, but they sometimes produce headaches, nausea, jitters, or insomnia when people first start to take them. These symptoms tend to fade with time. Some people also experience sexual problems with SSRIs or SNRIs, which may be helped by adjusting the dosage or switching to another medication.

One popular antidepressant that works on dopamine is bupropion (Wellbutrin). Bupropion tends to have similar side effects as SSRIs and SNRIs, but it is less likely to cause sexual side effects. However, it can increase a person's risk for seizures.

Tricyclics

Tricyclics are older antidepressants. Tricyclics are powerful, but they are not used as much today because their potential side effects are more serious. They may affect the heart in people with heart conditions. They sometimes cause dizziness, especially in older adults. They also may cause drowsiness, dry mouth, and weight gain. These side effects can usually be corrected by changing the dosage or switching to another medication. However, tricyclics may be especially dangerous if taken in overdose. Tricyclics include imipramine and nortriptyline.

MAOIs

Monoamine oxidase inhibitors (MAOIs) are the oldest class of antidepressant medications. They can be especially effective in cases of "atypical" depression, such as when a person experiences increased appetite and the need for more sleep rather than decreased appetite and sleep. They also may help with anxious feelings or panic and other specific symptoms.

However, people who take MAOIs must avoid certain foods and beverages (including cheese and red wine) that contain a substance called tyramine. Certain medications, including some types of birth control pills, prescription pain relievers, cold and allergy medications, and herbal supplements, also should be avoided while taking an MAOI. These substances can interact with MAOIs to cause dangerous increases in blood pressure. The development of a new MAOI skin patch may help reduce these risks. If you are taking an MAOI, your doctor should give you a complete list of foods, medicines, and substances to avoid.

MAOIs can also react with SSRIs to produce a serious condition called "serotonin syndrome," which can cause confusion, hallucinations, increased sweating, muscle stiffness, seizures, changes in blood pressure or heart rhythm, and other potentially life-threatening conditions. MAOIs should not be taken with SSRIs.

How should I take medication?

All antidepressants must be taken for at least 4 to 6 weeks before they have a full effect. You should continue to take the medication, even if you are feeling better, to prevent the depression from returning.

Medication should be stopped only under a doctor's supervision. Some medications need to be gradually stopped to give the body time to adjust. Although antidepressants are not habit-forming or addictive, suddenly ending an antidepressant can cause withdrawal symptoms or lead to a relapse of the depression. Some individuals, such as those with chronic or recurrent depression, may need to stay on the medication indefinitely.

In addition, if one medication does not work, you should consider trying another. NIMH-funded research has shown that people who did not get well after taking a first medication increased their chances of beating the depression after they switched to a different medication or added another medication to their existing one.

Sometimes stimulants, anti-anxiety medications, or other medications are used together with an antidepressant, especially if a person has a co-existing illness. However, neither anti-anxiety medications nor stimulants are effective against depression when taken alone, and both should be taken only under a doctor's close supervision.

Report any unusual side effects to a doctor immediately.

FDA warning on antidepressants

Despite the relative safety and popularity of SSRIs and other antidepressants, studies have suggested that they may have unintentional effects on some people, especially adolescents and young adults. In 2004, the Food and Drug Administration (FDA) conducted a thorough review of published and unpublished controlled clinical trials of antidepressants that involved nearly 4,400 children and adolescents. The review revealed that 4 percent of those taking antidepressants thought about or attempted suicide (although no suicides occurred), compared to 2 percent of those receiving placebos.

This information prompted the FDA, in 2005, to adopt a "black box" warning label on all antidepressant medications to alert the public about the potential increased risk of suicidal thinking or attempts in children and adolescents taking antidepressants. In 2007, the FDA proposed that makers of all antidepressant medications extend the warning to include young adults up through age 24. A "black box" warning is the most serious type of warning on prescription drug labeling.

The warning emphasizes that patients of all ages taking antidepressants should be closely monitored, especially during the initial weeks of treatment. Possible side effects to look for are worsening depression, suicidal thinking or behavior, or any unusual changes in behavior such as sleeplessness, agitation, or withdrawal from normal social situations. The warning adds that families and caregivers should also be told of the need for close monitoring and report any changes to the doctor. The latest information from the FDA can be found on their website .

Results of a comprehensive review of pediatric trials conducted between 1988 and 2006 suggested that the benefits of antidepressant medications likely outweigh their risks to children and adolescents with major depression and anxiety disorders.

What about St. John's wort?

The extract from the herb St. John's wort (Hypericum perforatum) has been used for centuries in many folk and herbal remedies. Today in Europe, it is used extensively to treat mild to moderate depression. However, recent studies have found that St. John’s wort is no more effective than placebo in treating major or minor depression.

In 2000, the FDA issued a Public Health Advisory letter stating that the herb may interfere with certain medications used to treat heart disease, depression, seizures, certain cancers, and those used to prevent organ transplant rejection. The herb also may interfere with the effectiveness of oral contraceptives. Consult with your doctor before taking any herbal supplement.

Psychotherapy

Now I'm seeing the specialist on a regular basis for "talk therapy," which helps me learn ways to deal with this illness in my everyday life, and I'm taking medicine for depression.

Several types of psychotherapy—or "talk therapy"—can help people with depression.

Two main types of psychotherapies—cognitive-behavioral therapy (CBT) and interpersonal therapy (IPT)—are effective in treating depression. CBT helps people with depression restructure negative thought patterns. Doing so helps people interpret their environment and interactions with others in a positive and realistic way. It may also help you recognize things that may be contributing to the depression and help you change behaviors that may be making the depression worse. IPT helps people understand and work through troubled relationships that may cause their depression or make it worse.

For mild to moderate depression, psychotherapy may be the best option. However, for severe depression or for certain people, psychotherapy may not be enough. For example, for teens, a combination of medication and psychotherapy may be the most effective approach to treating major depression and reducing the chances of it coming back. Another study looking at depression treatment among older adults found that people who responded to initial treatment of medication and IPT were less likely to have recurring depression if they continued their combination treatment for at least 2 years.

More information on psychotherapy is available on the NIMH website.

Electroconvulsive therapy and other brain stimulation therapies

For cases in which medication and/or psychotherapy does not help relieve a person's treatment-resistant depression, electroconvulsive therapy (ECT) may be useful. ECT, formerly known as "shock therapy," once had a bad reputation. But in recent years, it has greatly improved and can provide relief for people with severe depression who have not been able to feel better with other treatments.

Before ECT begins, a patient is put under brief anesthesia and given a muscle relaxant. He or she sleeps through the treatment and does not consciously feel the electrical impulses. Within 1 hour after the treatment session, which takes only a few minutes, the patient is awake and alert.

A person typically will undergo ECT several times a week, and often will need to take an antidepressant or other medication along with the ECT treatments. Although some people will need only a few courses of ECT, others may need maintenance ECT—usually once a week at first, then gradually decreasing to monthly treatments. Ongoing NIMH-supported ECT research is aimed at developing personalized maintenance ECT schedules.

ECT may cause some side effects, including confusion, disorientation, and memory loss. Usually these side effects are short-term, but sometimes they can linger. Newer methods of administering the treatment have reduced the memory loss and other cognitive difficulties associated with ECT. Research has found that after 1 year of ECT treatments, most patients showed no adverse cognitive effects.

Other more recently introduced types of brain stimulation therapies used to treat severe depression include vagus nerve stimulation (VNS), and repetitive transcranial magnetic stimulation (rTMS). These methods are not yet commonly used, but research has suggested that they show promise.

More information on ECT, VNS, rTMS and other brain stimulation therapies is available on the NIMH website.

Living With

How do women experience depression?

Depression is more common among women than among men. Biological, life cycle, hormonal, and psychosocial factors that women experience may be linked to women's higher depression rate. Researchers have shown that hormones directly affect the brain chemistry that controls emotions and mood. For example, women are especially vulnerable to developing postpartum depression after giving birth, when hormonal and physical changes and the new responsibility of caring for a newborn can be overwhelming.

Some women may also have a severe form of premenstrual syndrome (PMS) called premenstrual dysphoric disorder (PMDD). PMDD is associated with the hormonal changes that typically occur around ovulation and before menstruation begins.

During the transition into menopause, some women experience an increased risk for depression. In addition, osteoporosis—bone thinning or loss—may be associated with depression. Scientists are exploring all of these potential connections and how the cyclical rise and fall of estrogen and other hormones may affect a woman's brain chemistry.

Finally, many women face the additional stresses of work and home responsibilities, caring for children and aging parents, abuse, poverty, and relationship strains. It is still unclear, though, why some women faced with enormous challenges develop depression, while others with similar challenges do not.

How do men experience depression?

Men often experience depression differently than women. While women with depression are more likely to have feelings of sadness, worthlessness, and excessive guilt, men are more likely to be very tired, irritable, lose interest in once-pleasurable activities, and have difficulty sleeping.

Men may be more likely than women to turn to alcohol or drugs when they are depressed. They also may become frustrated, discouraged, irritable, angry, and sometimes abusive. Some men throw themselves into their work to avoid talking about their depression with family or friends, or behave recklessly. And although more women attempt suicide, many more men die by suicide in the United States.

How do older adults experience depression?

Depression is not a normal part of aging. Studies show that most seniors feel satisfied with their lives, despite having more illnesses or physical problems. However, when older adults do have depression, it may be overlooked because seniors may show different, less obvious symptoms. They may be less likely to experience or admit to feelings of sadness or grief.

Sometimes it can be difficult to distinguish grief from major depression. Grief after loss of a loved one is a normal reaction to the loss and generally does not require professional mental health treatment. However, grief that is complicated and lasts for a very long time following a loss may require treatment. Researchers continue to study the relationship between complicated grief and major depression.

Older adults also may have more medical conditions such as heart disease, stroke, or cancer, which may cause depressive symptoms. Or they may be taking medications with side effects that contribute to depression. Some older adults may experience what doctors call vascular depression, also called arteriosclerotic depression or subcortical ischemic depression. Vascular depression may result when blood vessels become less flexible and harden over time, becoming constricted. Such hardening of vessels prevents normal blood flow to the body's organs, including the brain. Those with vascular depression may have, or be at risk for, co-existing heart disease or stroke.

Although many people assume that the highest rates of suicide are among young people, older white males age 85 and older actually have the highest suicide rate in the United States. Many have a depressive illness that their doctors are not aware of, even though many of these suicide victims visit their doctors within 1 month of their deaths.

Most older adults with depression improve when they receive treatment with an antidepressant, psychotherapy, or a combination of both. Research has shown that medication alone and combination treatment are both effective in reducing depression in older adults. Psychotherapy alone also can be effective in helping older adults stay free of depression, especially among those with minor depression. Psychotherapy is particularly useful for those who are unable or unwilling to take antidepressant medication.

How do children and teens experience depression?

Children who develop depression often continue to have episodes as they enter adulthood. Children who have depression also are more likely to have other more severe illnesses in adulthood.

A child with depression may pretend to be sick, refuse to go to school, cling to a parent, or worry that a parent may die. Older children may sulk, get into trouble at school, be negative and irritable, and feel misunderstood. Because these signs may be viewed as normal mood swings typical of children as they move through developmental stages, it may be difficult to accurately diagnose a young person with depression.

Before puberty, boys and girls are equally likely to develop depression. By age 15, however, girls are twice as likely as boys to have had a major depressive episode.

Depression during the teen years comes at a time of great personal change—when boys and girls are forming an identity apart from their parents, grappling with gender issues and emerging sexuality, and making independent decisions for the first time in their lives. Depression in adolescence frequently co-occurs with other disorders such as anxiety, eating disorders, or substance abuse. It can also lead to increased risk for suicide.

An NIMH-funded clinical trial of 439 adolescents with major depression found that a combination of medication and psychotherapy was the most effective treatment option. Other NIMH-funded researchers are developing and testing ways to prevent suicide in children and adolescents.

Childhood depression often persists, recurs, and continues into adulthood, especially if left untreated.

How can I help a loved one who is depressed?

If you know someone who is depressed, it affects you too. The most important thing you can do is help your friend or relative get a diagnosis and treatment. You may need to make an appointment and go with him or her to see the doctor. Encourage your loved one to stay in treatment, or to seek different treatment if no improvement occurs after 6 to 8 weeks.

To help your friend or relative

  • Offer emotional support, understanding, patience, and encouragement.
  • Talk to him or her, and listen carefully.
  • Never dismiss feelings, but point out realities and offer hope.
  • Never ignore comments about suicide, and report them to your loved one's therapist or doctor.
  • Invite your loved one out for walks, outings and other activities. Keep trying if he or she declines, but don't push him or her to take on too much too soon.
  • Provide assistance in getting to the doctor's appointments.
  • Remind your loved one that with time and treatment, the depression will lift.

How can I help myself if I am depressed?

If you have depression, you may feel exhausted, helpless, and hopeless. It may be extremely difficult to take any action to help yourself. But as you begin to recognize your depression and begin treatment, you will start to feel better.

To Help Yourself

  • Do not wait too long to get evaluated or treated. There is research showing the longer one waits, the greater the impairment can be down the road. Try to see a professional as soon as possible.
  • Try to be active and exercise. Go to a movie, a ballgame, or another event or activity that you once enjoyed.
  • Set realistic goals for yourself.
  • Break up large tasks into small ones, set some priorities and do what you can as you can.
  • Try to spend time with other people and confide in a trusted friend or relative. Try not to isolate yourself, and let others help you.
  • Expect your mood to improve gradually, not immediately. Do not expect to suddenly "snap out of" your depression. Often during treatment for depression, sleep and appetite will begin to improve before your depressed mood lifts.
  • Postpone important decisions, such as getting married or divorced or changing jobs, until you feel better. Discuss decisions with others who know you well and have a more objective view of your situation.
  • Remember that positive thinking will replace negative thoughts as your depression responds to treatment.
  • Continue to educate yourself about depression.
Developmental Dysplasia of the Hip 

What is Developmental Dysplasia of the Hip?

Developmental dysplasia of the hip (aka Congenital Hip Dysplasia) is generally identified in the newborn period. The term describes a spectrum of hip problems that ranges from mild movement of the femur (upper leg bone) in the acetabulum (cartilaginous lining of the hip) to complete dislocation of the femur from the acetabulum. The femur is dependent on the proper formation of the acetabulum to help keep the femur in a stable environment. Instability (movement or subluxation) in the hip of a newborn can lead to abnormal development of the hip joint.

What Causes Developmental Dysplasia of the Hip?

Multiple factors may result in the development of an unstable hip joint. Children who have been in a breech position prior to delivery are at a higher risk of developing this condition. Low amniotic fluid (oligohydramnios) or a small uterus (in a first born child) may result in improper positioning of the femurs in respect to the hip joint.

Who gets Developmental Dysplasia of the Hip?

First-born female newborns are more prone to developing this condition. It generally occurs in 0.5 - 2% of all live births. The presence of a breech position or a positive family history are other factors that will increase the risk.

What are the Symptoms of Developmental Dysplasia of the Hip?

Your child's health care provider will examine your infant at birth or at the two week visit for certain signs of a dysplastic hip. At times, the provider may identify a click with movement of the femur. This should not be mistaken for instability of the hip for 10% of normal newborns will have a click. As a child gets older, she or he may develop a limp, hip pain or, rarely, some degenerative disease in the hip if the condition is not treated properly.

How is Developmental Dysplasia of the Hip Diagnosed?

The Ortalani and Barlow maneuvers will be done by your child's health practitioner to detect mild or significant subluxation of the hips. The symmetry of the gluteal fold (the fold of skin below each buttocks) is closely examined (although normal children can have an asymmetric fold). When your child's practitioner is suspicious of dyplasia, an ultrasound of the hips will be obtained to look for abnormalities of the hip as well as subluxation.

How is Developmental Dysplasia of the Hip Treated?

A Pavlik harness can be used to align the femur and acetabulum so that proper growth and development of the hip joint can take place. This harness is effective 95% of the time if it is used prior to 6 months of age. The harness bends the legs at the knee, as well as bends the hip at approximately 90 degrees, placing the femur in an ideal location within the acetabular space. The harness is worn 24 hours a day for a minimum of 6 weeks.

A plain x-ray of the hip may occasionally be required to monitor the progress of the hip.

What are the complications of Developmental Dysplasia of the Hip?

In rare circumstances, a child will require surgery to repair the hip joint. Poor vascularization of the head of the femur is a rare complication.

References

American Academy of Pediatrics. Clinical Practice Guideline: Early Detection of Developmental Dysplasia of the Hip.

Reviewed by: Daniel J. Feiten MD

This Article contains the comments, views and opinions of the Author at the time of its writing and may not necessarily reflect the views of Pediatric Web, Inc., its officers, directors, affiliates or agents. No claim is made by Pediatric Web, the Author, or the Author's medical practice regarding the effectiveness and reliability of the statements contained herein and such individuals and entities disclaim any and all liability for the comments and statements contained in this Article and for any use or misuse of the statements made in this article in any specific medical situations. Further, this Article is intended to be general in nature and shall not be considered medical advice. The statements made are not to be utilized to diagnose and/or treat any individual's medical symptoms. If you or someone you know has symptoms which you believe are similar to this Article, you should discuss such symptoms with your personal physician or other qualified medical practitioner.

Diabetic Mother, Infant of 

What are the classifications of maternal diabetes?

The classifications of maternal diabetes are outlined in Table 1.

Table 1. Whites classification of maternal diabetes.

Gestational diabetes (GD): Diabetes not known to be present before pregnancy
GD diet Normal glucoses maintained by diet alone
GD insulin Insulin required
Class A: Glucose intolerence prior to pregnancy not requiring insulin
Class B: Insulin-dependent; onset after 20 years of age
Class C: C1: Onset at 10 to 19 years of age
C2: Duration 10 to 19 years
Class D: D1: Onset before 10 years of age
D2: Duration 20 years
D3: Calcification of vessels of the leg (macrovascular disease)
D4: Benign retinopathy (microvascular disease)
D5: Hypertension (not preeclampsia)
Class F: Nephropathy (kidney abnormality) with >500 mg of protein per day in urine
Class R: Proliferative retinopathy of the eye or vitreous hemorrhage (bleeding within the eye)
Class RF: Criteria for both classes R and F coexist
Class G: Many reproductive failures
Class H: Clinical evidence of atherosclerotic heart disease
Class T: Prior kidney transplantation

* Modified from Diabetes Complicating Pregnancy: The Joslin Clinic Method. New York: Wiley-. Liss 1995. 2nd Ed. Florence M. Brown, John W. Hare.

Why are the classifications important?

The classification of diabetes during pregnancy is important because the outcome of both the mother and the baby are related to the severity and the duration (represented by the different classes) of the mother's diabetic condition.

In mothers with gestational diabetes, there is an increased risk of large (macrosomic) babies and babies with low blood sugars (hypoglycemia) after birth; however, the overall risk of complications is low.

Large babies and babies with low blood sugars also are associated with Classes A, B, C, and D.1 Large (macrosomic) babies increase the need for cesarean section delivery because the baby can be too big to pass through the mother's pelvis and vaginal canal.

Class F mothers have the highest risk of delivering abnormally small babies with poor growth while inside the mother's uterus.1 Class F mothers also have an increased risk of anemia, high blood pressure (hypertension), and decreased kidney function.

Class H mothers have an increased risk of a heart attack or heart failure and sudden death, along with an increased risk of producing abnormally small babies.

Class R mothers have an increased risk of worsened retinopathy, bleeding into the eye (vitreous hemorrhage), or detachment of the retina. They also have an increased risk of delivering small babies, most often by cesarean section.

All classes have an increased risk of abnormally large amounts of amniotic fluid (polyhydramnios). Polyhydramnios increases the risk of pre-term labor and delivery, delivery of the baby's umbilical cord before the baby (cord prolapse), or early separation of the placenta from the uterus (placental abruption). Cord prolapse and placental abruption can dangerously cut off blood supply to the placenta and the baby.

What are the risks to the infant?

Infants of diabetic mothers, or IDMs, have a significantly increased risk of breathing problems (respiratory distress), especially if they are born before 37 weeks, because their lungs are slower to mature.

Approximately 30% to 40% of IDMs have low blood sugar (i.e., glucose is less than 40 mg/dl) after birth. This condition usually occurs early after birth, often by one to two hours of age. Low blood sugar occurs because of excess insulin in the baby. The excess insulin was produced in the baby while inside the mother's uterus in response to high blood sugars delivered across the placenta from the mother's blood. Prolonged or severe low blood sugar (i.e., hypoglycemia) can cause seizures and brain damage. Therefore, IDMs will have their blood sugars checked (usually by "heel stick") shortly after birth and then several times over the next one to two days.

Approximately 20% of IDMs will have low calcium. If a baby is very sick, shaky, or lethargic, or has seizures despite normal blood glucose, a blood calcium measurement should be performed.

An abnormally high red blood cell count (polycythemia) can occur in IDMs, increasing their risk of jaundice (yellow skin color), feeding difficulties, respiratory distress, or lethargy. The risk of jaundice is increased significantly in IDMs even if they are not polycythemic. One study found that 19% of IDMs developed bilirubin levels greater than 16 mg/dl. Bilirubin is the yellow pigment that comes from the red blood cells and produces the yellow skin color. When there is too much bilirubin in a baby's blood, it can cause brain damage. Fortunately, this problem is treated easily with light treatment (phototherapy).

The incidence of major congenital anomalies (birth defects) is increased from 6% to 9% in IDMs, compared to a rate of 2% in the general population. The frequency of congenital anomalies is not increased in gestational diabetes; however, two-thirds of these anomalies involve the brain, the nervous system, or the heart. Caudal agenesis (failure of formation of the lower vertebrae and sacrum of the spine) more frequently occurs in IDMs whose mothers had poor blood sugar control around the time of conception and during the first few weeks of pregnancy.

A significant decrease in the incidence of congenital anomalies has been reported with rigorous glucose control in the periconception period.2 Congenital anomalies can be reduced even more if the mother takes folate supplements during the early part of pregnancy.

Poor feeding is a common problem that affects up to 37% of IDMs, often prolonging the hospital stay.

Macrosomia (large birth weight, i.e., larger than 4 kilograms, or 8 pounds) occurs in about one-third of IDMs, and it correlates with high blood sugars and serum fat concentrations in the third trimester of pregnancy.3 Usually, macrosomia is not seen in those mothers with more severe and longer-standing diabetes (e.g., Classes F and R).

Poor heart function or myocardial dysfunction is rare, but increased, in IDMs because of the enlargement of the septum or the wall between the ventricles (the two large pumping chambers of the heart). This condition is called ventricular septal hypertrophy, and can cause congestive heart failure, poor cardiac output, and heart enlargement. However, it often has no associated problems. Sometimes, a heart murmur is heard when IDMs have poor heart function.

Even when there are associated problems with the heart, they usually resolve by two weeks, and the hypertrophy resolves by four months. Good diabetic control during pregnancy can reduce the incidence and the severity of this complication.

Renal vein thrombosis or clotting of the vessel draining blood from the kidney, causing the kidney to swell, is rare; however, it can occur before or after birth in IDMs. It is caused by abnormally low blood anticoagulants that may develop in the baby whose mother is poorly controlled for her diabetes during pregnancy.

Small left colon syndrome can occur in IDMs. This syndrome can cause the delayed passage of a stool after birth, resulting in abdominal distention and a delay in normal feeding.

What can be done to decrease the risk of complications to the infant?

Good glucose control and prevention of ketoacidosis prior to conception and in the first two months of pregnancy will decrease the risk of congenital anomalies. Later in the pregnancy, glucose control is important to prevent macrosomia, hypoglycemia (after birth), and ventricular septal hypertrophy of the baby's heart. It generally is recommended that the mother's fasting blood glucose should be from 70 to 90 mg/dl, and, two hours after eating, her blood glucose should be less than 120 mg/dl.2

If a pregnant diabetic woman participates in a program of pregnancy management and surveillance from before conception until delivery, she has at least a 95% chance of having a completely healthy child.1

What special tests may be required for a diabetic mother during pregnancy?

Early screening for congenital anomalies usually includes a serum alpha-fetoprotein level of the mother to screen for open neural tube defects (spina bifida) and a detailed ultrasound at 18 to 20 weeks. Follow-up ultrasounds may be required for polyhydramnios (increased amniotic fluid), abnormal fetal growth, or early separation of the placenta.

Tests of fetal well being, including daily fetal movement counts and biweekly biophysical testing (ultrasound and fetal heart rate monitoring), usually begin at 28 to 32 weeks.

An amniocentesis may be performed prior to delivery if the mother is at less than 38 weeks gestation to document fetal lung maturity.

The mother's glucose will be monitored closely during labor, and insulin and glucose treatments often will be adjusted.

What special tests may be required for the infant after birth?

The baby will require frequent blood glucose checks after birth, beginning in the first two hours of birth. These check-ups usually are continued every 2 to 4 hours for at least 24 hours.

The red blood cell count, or hematocrit, will be checked after birth to ensure that the baby does not have polycythemia. If significant jaundice occurs, bilirubin levels will be checked.

If the baby has jitteriness, lethargy, or poor feeding, despite normal glucoses, the calcium level will be checked.

A thorough physical examination will be performed to look for any physical abnormalities and to listen to the heart for any evidence of a heart murmur.

The baby's long-term development will be followed; studies have shown a mild decrease in IQs (93 versus 102) of IDMs with a maternal history of ketones in the urine (ketonuria) during pregnancy, as compared to IDMs with no maternal ketonuria.2 However, significant differences in mental development have not been found between IDMs with good sugar control without ketonuria and other normal babies.

What special treatments may be required for the infant after birth?

If the baby is well after birth, he/she should be nursed or given formula in the first hour. The first blood sugar should be checked within two hours of birth or sooner if the baby develops jitteriness, lethargy, or seizures. If the blood sugar is low (less than 40 mg/dl), the baby should be fed immediately, and the blood sugar rechecked within one to two hours. If the blood sugar is extremely low (less than 25 mg/dl), if the baby is sick or unable to eat, or if the blood sugar remains low despite feeding, an IV with glucose water should be started for the baby. The blood sugar will be rechecked frequently until it is normal and stable.

If congenital anomalies exist, they will need to be treated accordingly; some birth defects may require surgery.

If the baby develops significant jaundice, phototherapy may be required for a short period (usually from two to five days) to break down the bilirubin in the skin.

If the lungs are not mature, the baby could require help with breathing using a machine called a respirator. The baby also could benefit from surfactant. Surfactant is a soap suds-like material that is administered to help lubricate and expand the lungs. Surfactant often is deficient in immature lungs, and most commonly occurs in those IDMs born at less than 37 weeks.

If the baby has difficulty feeding, he/she may require intermittent gavage feeds with a feeding tube. Extra time in the hospital may be required for the baby to learn to feed by either the breast or the bottle.

If the baby develops abdominal distention or has difficulty stooling, a gastrointestinal x-ray with gastrograffin may be required to check if a microcolon is present.

What is the risk of the infant developing insulin-dependant diabetes?

In a series of studies from the Joslin Diabetes Center, only 2% to 3% of IDMs developed insulin-dependant diabetes mellitus before 20 years of age. The risk of subsequent diabetes is slightly higher if both the mother and the father have insulin-dependent diabetes. The risks and the complications to the baby outlined herein do not pertain when only the father has insulin-dependant diabetes.

References

Cloherty JP, Stark AR. Manual of neonatal care. Philadelphia, Lippencott-Raven, 1997.

Fanaroff AA, Martin RJ. Metabolic and endocrine disorders. In: Neonatal-perinatal medicine: diseases of the fetus and infant. 6th ed. St. Louis: Mosby-Year Book, Inc.

About the Author

Dr. Paisley is a second year fellow in Neonatal-Perinatal Medicine in the Section of Neonatology, Department of Pediatrics, University of Colorado School of Medicine in Denver, Colorado. Jan trained in Pediatrics at the University of Utah and was honored to receive a highly prestigious Pediatric Scientist Development Program award.

Jan preferred clinical practice, however, and she has been working for the past 7 years as a general Pediatrician in Ft. Collins, Colorado.

She joined the Neonatal-Perinatal Medicine Training Program in 1998 and is working with Dr. Adam Rosenberg and Dr. William Hay on aspects of cerebral glucose metabolism in a fetal animal model and in newborn human infants.

Dr. Hay is a Professor of Pediatrics at the University of Colorado School of Medicine, Denver, Colorado.

He is the Director of the Training Program in Neonatal-Perinatal Medicine, Director of the Neonatal Clinical Research Center (as Associate Director of the National Institutes of Health and Department of Pediatrics sponsored Pediatric Clinical Research Center), and Scientific Director of The Perinatal Research Center at the University of Colorado Health Sciences Center.

Dr. Hay holds three NIH research grants and a NIH Training Grant in Perinatal Medicine and Biology.

His clinical and basic research interests focus on fetal physiology, fetal and neonatal nutrition and metabolism, glucose disorders in preterm infants, small-for-gestational aged infants, and infants of diabetic mothers, and oxygen monitoring.

Dr. Hay is Secretary-Treasurer of the American Pediatric Society and is a member of the NIH Human Embryology and Development Study Section. He travels widely around the United States and internationally as a visiting scientist and professor.

Dr. Hay also is the senior editor for Current Pediatric Diagnosis and Treatment (a Lange Publication) and co-editor of NeoReviews (American Academy of Pediatrics).

Copyright 2012 Jan E. Paisley, M.D., and William W. Hay, Jr., M.D., All Rights Reserved

Ear Infection 

What is acute otitis media?

Acute otitis media is an infection of the middle ear, generally caused by bacteria. In acute otitis media (i.e., an ear infection or an infection of the middle ear), pus and infected fluid accumulate in the middle ear space.

The tympanic membrane (eardrum) appears inflamed, reddened, and often protrudes outward. Usually, an ear infection begins after the eustachian tube (a small tube connecting the back of the nose to the middle ear space) has become swollen, congested, and closed, most commonly resulting from an ongoing viral respiratory infection.

Acute otitis media should not be confused with: 1) external otitis ("swimmer's ear")-a painful bacterial infection of the superficial skin of the ear canal, or 2) otitis media with effusion (secretory otitis or "fluid ears")-an accumulation of non-inflamed fluid behind the eardrum. Otitis media with effusion is not considered infected, and most doctors do not treat it with antibiotics. This uninfected fluid in the middle ear is a remnant in 50% to 60% of resolved ear infections. It is frequently a mild complication of colds, respiratory illnesses, or nasal allergies.

What causes acute otitis media?

Acute otitis media usually is caused by one of four bacteria:

  1. Streptococcus pneumoniae (pneumococcus) in 30% to 45% of cases.
  2. Haemophilus influenzae (Haemophilus-but not the Haemophilus strain in the HIB or meningitis vaccine) in 20% to 30% of cases.
  3. Moraxella catarrhalis (Moraxella; sometimes called Branhamella catarrhalis) in approximately 10% of cases.
  4. Group A Streptococcus (like the strep bacteria of strep throat) in 5% of thecases.

The pneumococcus bacteria is now the most difficult to treat. Some strains have become very resistant to antibiotics by using their unique ability to transform their genes and cell wall into a bacterial form, which is resistant to most of the antibiotics that commonly are used to treat ear infections. These resistant strains frequently are cultured from children who do not respond to several courses of antibiotics. When a child has an ear infection that does not respond to antibiotics, resistant pneumococcus bacteria may cause it.

Pneumococcus has 90 different types, which are all genetically related; however, 7 types account for the majority of ear infections in childhood and nearly all of the antibiotic resistant strains. In addition, pneumococcus is the leading cause of meningitis, bloodstream infections, and serious pneumonia in children, sometimes as a result of a preceding ear infection.

Up to half of Haemophilus and nearly all Moraxella bacteria produce an enzyme (beta-lactamase), which makes these bacteria resistant to some of the commonly used antibiotics. This enzyme may destroy many antibiotics when they come in contact with the bacteria. Nonetheless, several available antibiotics are still quite effective against these strains.

Viruses play a critical role in the development of acute otitis media by enabling the bacteria to travel into the middle ear (see below). By themselves, though, viruses account for only 6% to 10% of ear infections.

How does it cause disease?

As long as air entering from the back of the nose is able to reach the middle ear space via the eustachian tube, the middle ear rarely becomes infected. The eustachian tube in younger children is flimsy and easily collapses. As the child grows, the cartilage tissue surrounding the eustachian tube becomes stiffer, longer, and more angulated inside the skull.

Pneumococcus, Haemophilus, and Moraxella commonly reside in the back of the nose, and do not infect the child. Once a child becomes infected with a respiratory virus, it not only causes congestion of the nose and the lungs, but also of the eustachian tube. When this tube becomes clogged, the cells in the middle ear space produce a fluid-like substance, which allows bacteria to grow and infect the middle ear space. A virus infection precedes up to 90% of cases of acute otitis media.

Respiratory virus infections also trigger ear infections by upsetting the body's normal defenses in the nose and the eustachian tube, and allowing certain normal bacteria that reside in the nose to "stick" better to the lining of the nose and the eustachian tube. Certain viruses, such as the flu (influenza) and RSV (a respiratory syncytial virus, or the "bronchiolitis bug"), are more frequently associated with ear infections. Occasionally, the child's nose becomes colonized by a new aggressive strain of bacteria, which rapidly invades the middle ear. Unfortunately, more exposures (e.g., via daycare attendance) to viruses and new strains of bacteria increase the likelihood of ear infections.

How common is acute otitis media?

Acute otitis media is predominantly an infection of young children, primarily occurring in the first three years of life. Children in the 1990s experience 30% more episodes of acute otitis media as compared with children in the 1970s, probably as a consequence of high rates of day care. Currently, acute otitis media accounts for one-fourth of all pediatric office visits in the first three years.

Nearly 94% of children will experience at least one ear infection in the first three years of life, with an average of about three episodes in the first and second years, and one and one-half episodes in the third year. As many as 5% to 8% of children will undergo the placement of ventilating tubes in their first 24 months of life. Much of this is related to the high rate of daycare attendance in the United States, with increased exposure to infectious agents.

Who gets an ear infection?

At the highest risk for ear infections include those children who:

  • are male;
  • are of the white, American Indian, or Eskimo races;
  • attend daycare;
  • have Downs syndrome;
  • are immunocompromised;
  • have a strong family history of otitis media;
  • were not breastfed during the first 12 months of life; and/or
  • reside in a smoking household.

Children with a cleft palate or HIV have particularly severe problems with recurrent ear infections.

Age affects the rate of acute otitis media, with a dramatic decline in frequency in children older than three years. However, some children with a history of ventilating tubes or frequent recurrent otitis media, severe allergies, or large adenoids may still be plagued with ear problems.

Is an ear infection contagious?

To some degree, the bacteria that cause ear infections are contagious because they may colonize, or set up residence, in the nose of children or close contacts. However, only a small proportion of children colonized with a new strain of bacteria will develop an ear infection. For example, in the case of pneumococcus, only about 15% of children colonized in the nose with a new strain of it will develop an ear infection, and usually only within the first month. Also, some bacterial strains appear more aggressive than others and will directly invade the middle ear.

What may be even more important than new bacterial colonization is the spread of respiratory viruses, particularly among children in daycare and pre-schools. Respiratory viruses are very contagious in close quarters. They frequently make a child more susceptible to an ear infection by upsetting the normal balance between the child's local nose immunity and the co-inhabitant bacteria. When the child's defenses are down, or the eustachian tube becomes clogged, the bacteria tend to infect the middle ear.

How do you know if your child has an ear infection?

Children with an ear infection display a wide range of symptoms, from none at all, to a high fever, to a screaming earache. Many infants and toddlers with an ear infection show less obvious symptoms, such as sleeplessness, irritability, decreased feeding, or a fever. Ear pain and ear tugging are helpful clues, but are fairly unreliable. Even in older children with a respiratory illness, mild to moderate ear complaints and earaches frequently occur in children with normal ears. In these children, a sore throat often causes the ear complaints. Fever occurs in only one-fourth of ear infections, and it does not signify an ear infection.

One of the more reliable indicators of an ear infection in younger children is when a child, who has had a cold and a runny nose for three to seven days, suddenly develops sleeplessness and inconsolability during the night, along with increasing fussiness throughout the day. Children with a persistent ear infection who have recently received antibiotics often show few symptoms.

Antibiotics should not be prescribed over the phone for a presumed ear infection, without an examination by a physician. Only a careful examination of the eardrum by a doctor can determine whether the ear is truly infected. Often, when the child is brought into the office in the early phase of a cold or a mild respiratory infection, the eardrum will be normal, only to become infected several days after the office visit. If the child has only a mild cough and a runny nose, it is best to wait at least five to seven days into the illness before making an office visit.

The new EarCheckTM (acoustic reflectometry instrument) may help parents to determine whether a young child is getting an ear infection. If a previously healthy child, who now has an illness, develops an abnormal reading on the instrument, parents can assume a 70% chance of fluid behind the eardrum. It will not distinguish between infected or uninfected fluid. More importantly, if the readings are normal and the child's symptoms are mild, parents can assume that it is very unlikely that the child has an ear infection, and an office visit may be avoided.

What does the eardrum look like when it is infected?

When a doctor examines the eardrum through the otoscope instrument, the eardrum normally appears as a thin gray, translucent membrane (like wax paper). When infected, it will look opacified (cloudy), very reddened, and yellowish. Sometimes, it shows a small layer of pus-like material. During an infection, the eardrum usually becomes rigid because of the accumulation of fluid, and it will not wiggle when the doctor puffs a small amount of air against the eardrum with an otoscope. Use of tympanometry or acoustic reflectometry (i.e., the EarCheck instrument) may help to determine if there is fluid behind the eardrum. Neither instrument distinguishes between infected or uninfected fluid.

From the appearance of the eardrum, the doctor cannot determine the type of bacteria, or whether bacteria or viruses are causing the infection. The eardrum in children with otitis media with effusion appears as an orangish or dull, straw-colored fluid, and it also does not move when air is applied to it.

How is an ear infection treated?

The intense ear pain of acute otitis media can be partially relieved by adequate doses of ibuprofen or acetaminophen. For more severe earaches, some doctors may prescribe codeine. Numbing eardrops provide minimal relief, and only for a short time. A warm washcloth or sweet oil (olive oil) directly instilled in the ear canal may temporarily distract from the child's ear pain.

Nearly all doctors in the United States believe that acute otitis media should be treated with antibiotics by mouth, particularly if the child has symptoms. Antibiotics generally provide prompt and dramatic relief of the ear pain. Oral antibiotics for acute otitis media are safe and effective, with exceedingly rare serious side effects.

In a few European countries, ear infections are not treated in children older than two years, unless symptoms persist for more than 48 hours. A few U.S. physicians recommend this same tactic.

Most experts in the United States are concerned about the tendency for pneumococcus in an ear infection to cause more serious infections. When pneumococcus causes an ear infection, if left untreated, it will persist in the ear of 80% of children for up to a week. However, most episodes of acute otitis media will resolve on their own from 3 to 10 days. Yet, non-treatment may be dangerous, not only because of the risk of serious pneumococcus infections, but also because of the possibility of other serious complications. Furthermore, few parents are willing to watch a child suffer with an earache, a fever, and crying for several days.

Amoxicillin (the "pink ink") is the drug of choice for initial ear infections, except in the penicillin allergic child. In an attempt to enhance the effectiveness of this inexpensive and safe antibiotic, many doctors are now prescribing amoxicillin twice a day and in double the daily standard dose. Effectiveness for initial therapy with most antibiotics approaches 70% to 80%. There are other antibiotics to treat children who do not respond to amoxicillin or who never seem to respond to initial amoxicillin therapy.

Children who do not respond after two or more standard courses of antibiotics can be expected to respond to another antibiotic only about 50% to 60% of the time. Most children who fail antibiotic therapy are younger than 24 months, have poor eustachian tube function, and tend to be infected with more resistant bacteria. At this point, the easy-to-treat bacteria usually have been eliminated. The persistent bacteria are the most resistant strains of the three most common ear bacteria. The emergence of more resistant strains is outpacing the development of new effective drugs. A child's doctor should be relied upon to select the most effective second-line antibiotic choices.

The new "one-shot" (ceftriaxone) for acute otitis media also is effective for simple cases of acute otitis media. However, "the shot" should only be used in select children, such as those with vomiting and diarrhea, very cantankerous toddlers, or children with an associated moderately serious illness. Three daily doses of ceftriaxone also may be very effective in children who have failed three to four consecutive courses of antibiotics, and are destined for tube placement.

The Centers for Disease Control (CDC) has convincingly pointed out that antibiotic overuse is one of the major culprits for the increasing antibiotic resistance problem. Parents should not insist on an antibiotic prescription for fevers, minor colds, and respiratory illnesses.

Physicians almost never know which bacteria they are treating. Thus, the CDC and other otitis experts advocate the use of tympanocentesis (lancing the ear or ear tap) for children who have failed antibiotic therapy.

Tympanocentesis:

relieves instantly the pain of the child with a crying earache; enables the physician to culture the bacteria and to select the best antibiotic for the infection; and allows the ear infection (like an abscess) to drain, which may improve the healing process.

The procedure can be performed nearly pain free. Only physicians who have been trained in the procedure perform it.

No medication is currently available to treat viruses that precipitate ear infections, either before or during the illness. An exception is the flu virus. Anti-flu medications and the flu vaccine could help prevent some wintertime ear infections, but only for the small number of children with ear infections related to the flu.

What are the complications?

The most serious complications secondary to ear infections are mastoiditis (infection of the skull bone behind the ear) and meningitis (infection of the lining of the brain). Both are extremely rare.

Chronic draining ears and chronic perforations (holes in the eardrum) are uncommon, but occur more frequently as a result of resistant pneumococcus. However, these complications are commonly seen in developing countries where antibiotics are not readily available. Permanent hearing loss from very severe recurrent infections is a major concern, but is still rarely observed with effective antibiotic therapy. Children with an ear infection (even ones that rupture and drain) suffer only some temporary, low grade hearing loss. As the fluid resolves, which may take months, the hearing returns to baseline levels.

Your child's doctor may work with an ear-nose-and-throat doctor to help treat the more severely afflicted child, or one who has suspected chronic hearing loss. Children with chronic fluid persisting for more than four months, or with more than five or six ear infections in a year, may require the insertion of "tubes." This is most important during the first two years of life when hearing is critical for speech and language development. Chronic ear infections may aggravate learning and later school problems, but cause and effect on this issue remains speculative.

Severe complications from ear infections nearly have been eliminated, and there is an array of antibiotics to treat them; however, the rate of highly resistant bacteria infecting children has increased. Physicians cannot continue to wastefully prescribe antibiotics, and parents should not demand them to treat everyday colds and viral infections. Although the new Prevnar vaccine may prevent many strains of highly resistant pneumococcus, with continual antibiotic misuse, microbiologic history will repeat itself in other pneumococcal strains or in other bacteria.

How can an ear infection be prevented?

The simplest preventive measures include the following:

  • Breastfeed an infant during the first 12 months of life
  • For bottle-fed infants, never prop the bottle and wean off the bottle by 12 months
  • Do not smoke around the baby, particularly in the household or the car
  • Do not smoke during pregnancy
  • Consider a private sitter or a smaller daycare, instead of a high volume daycare
  • Avoid the introduction of solid foods in the first four months of life
  • Administer the flu vaccine annually after six months of age
  • Consider allergen avoidance and allergy shots in older children (over three years) with chronic fluid
  • Administer Prevnar vaccine to infants less than 24 months of age

More controversial preventive measures include the following:

  • Avoid the pacifier
  • Give the pneumococcal vaccine (Prevnar) to infants and children older than 24 months who are unvaccinated with Prevnar and still getting recurrent ear infections

Ineffective measures include the following:

  • Covering a child's head with a hat during the winter
  • Using decongestants and antihistamines to "prevent" ear infections
  • Chiropractic manipulation
  • Herbal remedies

What research is being done?

The most important recent development to potentially reduce the frequency of ear infections is a new pneumococcal conjugate vaccine. A study from Northern California suggests that this vaccine could prevent about 7% of overall episodes of ear infections, and up to 23% of recurrent ear infections.

The new pneumococcal vaccine contains 7 of 90 types of pneumococcus, which are the most common and the most resistant bacteria. Elimination of these resistant types could have an impact on the number of antibiotic failures in children. This also could mean a reduction in the placement of tubes, possibly by one-fourth, as observed in the California study.

This vaccine is administered to infants at 2, 4, 6, and 12 months of age. Side effects have been minimal, and it has been a very safe vaccine. It uses the same technology as the universally administered HIB vaccine.

ome new antibiotics are about to undergo testing in children with acute otitis media. In preliminary testing, these drugs appear to work against the resistant pneumococcus.

In the future, there may be alternate ways of treating or preventing ear infections. A new antibiotic may be able to penetrate the eardrum directly by instilling eardrops. A nasal spray squirted in the nose of infants a few times a day may prevent the common bacteria of acute otitis media from gaining access to the nose. Some Scandinavian investigators have shown slight reduction in the number of ear infections in children who regularly used an experimental sugar called xylitol.

About the Author

Dr. Block is a full-time practicing pediatrician in rural Bardstown, Kentucky who serves on the clinical faculties at both the University of Kentucky and the University of Louisville as an Associate Clinical Professor of Pediatrics.

His pediatric practice is one of the leading pediatric research groups in the United States and, in fact, Dr. Block was awarded the American Academy of Pediatrics 1998 Practitioner Research Award.

He has authored and published over 20 articles and 40 abstracts on pediatric infectious diseases. He has also lectured on Otitis Media extensively to pediatricians and other physicians throughout the U.S. and Canada.

Copyright 2012 Stan L. Block, M.D., All Rights Reserved

Eating Disorders 
 
 
Eczema 

What is dermatitis?

"Dermatitis" literally means "inflamed skin." The term, dermatitis, is used to describe the skin when it is irritated, red, or inflamed. For example, sunburn, hives, or the rash of measles may be described as dermatitis.

What is eczema?

Eczema is a specific type of dermatitis. With eczema, the skin is not only inflamed (dermatitis), but it also is oozing. Early on, the oozing may show up as small blisters ("vesicles"). After a few days, the blisters usually break open and dry up, leaving scabs or crusts. After several weeks, the oozing is only visible under a microscope. At this stage, eczema looks dry and scaly.

What causes eczema?

Eczema is a reaction pattern of the skin. There are numerous causes, or triggers, of eczema. Some cases are triggered by contact allergy, such as poison ivy. More often, eczema is a reaction to external irritation. For example, rubbing the skin (scratching) may cause an eczema reaction. Harsh chemicals, detergents, and excessive washing also can cause it. Generally, eczema does not result from internal causes, such as foods or medications. More often, internal triggers cause a different type of inflammation (dermatitis), called hives or urticaria.

What is atopy?

Atopy, meaning "without a place," is a word invented in 1923 by Drs. Cooke and Coca, who were classifying and categorizing different skin conditions and rashes. They had a group of patients who had unusually sensitive skin, and who were very susceptible to irritation and eczema. Most of these patients also had family members with hay fever, allergies, or asthma. Since this group of patients did not fit in Dr. Coca's classification system, he made up the word, atopy, to describe them. Today, atopy is considered an allergic condition that a person may inherit.

What causes atopy?

It is not known why atopic people have sensitive skin. Most atopic people begin having eczema by two years old. If one parent is atopic (i.e., has hay fever, asthma, or allergies), there is a 20% chance that the child also will be atopic; when both parents are atopic, there is a 60% chance. However, to develop eczema, there must be a cause, such as irritation. Therefore, the skin sensitivity and easy irritation is inherited, while eczema is not.

Human skin is designed to act as a barrier to keep water inside the body and to keep irritants outside the body. In atopic people, the barrier does not work correctly, and the water evaporates easily, leading to very dry skin. Atopic people also perceive the sensation of itch more easily. When clothing slides across the skin, most people feel a sensation of touch or tickle, but atopic people feel a sensation of itch. Skin sensitivity and skin barrier function generally improve with time. Fifty percent of people stop having skin irritation and eczema by age 5, and 90% of people stop by age 9. Sometimes, eczema reappears in adults, usually after age 60.

Why do atopic people get eczema?

Atopic people itch more easily, more intensely, and more frequently than other people. Scratching-which triggers a rash-is believed to be the cause of eczema in atopic people. In fact, eczema in atopic people has been called "the itch that rashes." Two experiments support this theory. If you gently scratch anybody's skin for 15 minutes every day, you will produce the eczema reaction. Once the eczema reaction appears, the skin usually itches so much that people will keep scratching. Unless you interrupt the itch/scratch cycle, eczema cannot heal. On the other hand, if you put a protective cast over the eczema, it will heal very quickly, even without any other treatment.

Eczema can be triggered by any kind of irritation, not just scratching. Since the skin barrier in atopic people does not work correctly, rough wool clothing, strong soap, frequent bathing, or stress can easily trigger eczema. Because atopic skin loses water easily, eczema is often worse in dry winter months. Generally, atopic eczema is not caused by contact allergy or by food allergy.

What are the common findings?

Atopic people often have a small crease on the lower eyelid near the nose ("Dennie's Pleats"). They may have dark circles under the eyes, probably from the closely associated hay fever/allergies. They may have small acne-like bumps on the backs of the arms. The wart virus and the ringworm/athlete's foot fungus grow more easily on atopic skin. These findings help to identify atopic people even if they never have skin irritation or eczema.

Eczema always looks the same, no matter what causes it. It is red, scaly, crusted, or blistered. In infants, eczema is usually located on the scalp ("cradle cap"), cheeks, elbows, and knees. These areas are most affected in infants, because they cannot directly scratch with their fingers, but they can rub against bedding or other surfaces. In toddlers, eczema mostly occurs on the areas where skin can touch itself, like the creases in front of the elbows or behind the knees. In adults, eczema is rare (they usually have only hay fever or asthma), but it may occur on the hands and feet.

How is atopic eczema diagnosed?

For atopic eczema to be diagnosed, itch and eczema must occur. Eczema also must last for a long period of time, or it must appear frequently. Eczema should be in the classic location for the age of the patient. When a person is diagnosed with atopic eczema, another family member usually is atopic.

How is atopic eczema treated?

The goal in treating eczema is for a child to be comfortable and still be able to function; it is not as important to make every last spot of eczema disappear. To treat the inflamed, itchy rash areas, most pediatricians and dermatologists will use very mild prescription strength cortisone (steroid) creams. These creams are applied two to three times daily until the rash clears, or the itching stops. The cortisone will penetrate the skin better if a damp cloth is applied after the medicine. Damp pajamas or long john underwear also may be used. Oral antihistamines, such as Benadryl, reduce the sensation of itch and increase drowsiness to ensure restful sleep. Topical antihistamines do not work. Occasionally, us will prescribe antibiotics when the raw, irritated skin gets infected. Dietary manipulation generally does not work. Severe cases may require a special kind of ultraviolet light treatment or powerful anti-inflammatory medicines.

What are the complications?

Eczematous skin gets infected more easily, especially by the cold sore virus. People with active eczema should not touch a cold sore. In darker skin, eczema and other skin irritation may leave dark spots. Dark spots always resolve without treatment, but it may take several months. The intensity of itching may prevent restful sleep; therefore, young patients may be tired or grouchy during the day.

How is eczema prevented?

Eczema cannot be completely prevented, but it can be less severe and less frequent. Dry skin always itches easier and more severely than moist skin. Humidifiers are helpful. Thick cream moisturizers, applied very frequently, and especially after bathing, also are beneficial. Young children should bathe less frequently with less soap. All soap is very irritating, especially Ivory and deodorant soaps. Soap substitutes, like Cetaphil, are excellent. Soap substitutes can be massaged gently onto the skin and simply wiped off. They do not need to be rinsed. In addition, cotton clothing is less scratchy than most synthetics or wool clothing. To remove irritating soap residue, clothing should be double rinsed in the laundry.

What research is being done?

Currently, most of the research on eczema is focused on developing better and safer anti-inflammatory medications, both topical and oral. Significant research also is underway to better understand and correct the barrier abnormality of the skin. To review recent research articles, go to http://www.nlm.nih.gov and search "pubmed" on your Internet browser.

Links to other information

A list server is available for patients with eczema. Send an e-mail to listserv@sjuvm.stjohns.edu and type "subscribe eczema" in the subject line.

For eczema support group information, call or write to:

National Eczema Society

163 Eversholt Street

London NW1 1BU, United Kingdom

Phone: 0171 388 4097

Fax: 0171 388 5882

Web: http://www.eczema.org

For a pamphlet from the American Academy of Dermatology, go to http://www.aad.org/public/publications/pamphlets/skin_eczema.html

About the Author

After finishing medical school and dermatology training at the University of Oklahoma, Paul came to Colorado to further his knowledge in this specialty.

He is board certified in Dermatology and Dermatopathology. He works at a busy private practice with offices in Aurora and Parker, Colorado. He also teaches at the University of Colorado Department of Dermatology.

Copyright 2012 Paul Gillum, M.D., All Rights Reserved

Enlarged Lymph Nodes 

What are swollen glands?

The lumps that you feel in your neck or under your jaw when you have a cold or a sore throat are called lymph nodes. Lymph nodes are part of the body's immune system. They help to destroy infectious germs, such as viruses (e.g., the common cold virus) and bacteria (e.g., strep). The lymph nodes make antibodies that will help keep you from being infected with a particular germ in the future.

Lymph nodes are located in the areas beside the head and the neck region. They can be found in the armpits, the groin, above the elbow, and deep inside the chest and the abdomen (belly). Their function is the same regardless of their location.

What causes enlarged lymph nodes?

When lymph nodes are active in fighting infection, they may become swollen and painful. Usually, the pain is mild, and the lymph node does not get much bigger than 2 centimeters (slightly under 1 inch) in size.

While lymph nodes are the most common cause of a lump or a bump in the neck, there are other, much less common causes, e.g., cysts from abnormalities of fetal development or thyroid gland enlargement. Usually, us can tell the difference on a physical examination.

Who gets enlarged lymph nodes?

Frequently, children have enlarged lymph nodes. The immune system of a child is constantly being exposed to germs that it has never seen before, and the lymph nodes may swell in reacting to those germs. In contrast, the immune system of an adult has seen most of the common germs, and has developed immunity to them.

Therefore, the lymph glands do not need to work so hard, and they are much less likely to become swollen. In fact, a study published in 1975 showed that 100% of children who are under 12 years of age had lymph nodes that could be felt in the neck.

What are the common findings?

In children, once a lymph node becomes enlarged, it may stay enlarged for a long time. Sometimes, several lymph nodes can become enlarged at the same time. Usually, the lymph node will begin to decrease in size within two to three weeks, but a little bump (less than 1 centimeter, or 1/4 to 1/2 inches, in size) may be present for months.

However, lymph nodes should not continue to grow in size (especially grow greater than 1 inch in diameter). If they do, you should contact us. Your doctor may want to measure the lymph node and record the findings in your chart for accurate comparison on your next examination.

Typically, a fever accompanies enlarged nodes when it is part of an infectious process. You also may have a sore throat, enlarged tonsils, an earache, a dental problem, or skin irritation or infection. Often, the problem that caused the swollen gland will bring you to us and not the swollen lymph node.

How is an enlarged lymph node diagnosed?

Generally, enlarged lymph nodes are evaluated by a physical examination. Your doctor will note:

      the size and the location of the enlarged lymph node;
    • if one or more lymph nodes are involved;
    • if the node is tender
    • if it is associated with redness of the overlying skin; and
    • how it feels, e.g., soft, firm, rubbery, or hard.

Your doctor will examine the areas that the lymph node drains. For example, a lymph node under the jaw should prompt a careful examination of the mouth and the throat. Your doctor also will look for abnormalities that often are seen with enlarged lymph nodes, such as a skin rash or a swollen liver and/or spleen.

Enlarged lymph nodes that grow progressively or are very large in size (generally more than 3 centimeters, or 1 1/4 inches) may require more extensive evaluations, to include a blood count; blood tests for infections, e.g., mono; a skin test for TB; or an x-ray. This is particularly true if you have been losing weight, have joint pain or swelling, have persistent fevers and/or night sweats, or have other abnormalities that are found on a physical examination.

How is an enlarged lymph node treated?

Sometimes, an enlarged lymph node needs no treatment at all, particularly if it is enlarged because it is fighting a viral infection. Occasionally, antibiotics will be prescribed if the lymph node is infected with a bacterial germ or is enlarged due to a bacterial infection (e.g., strep throat). If the lymph node tenderness is a problem, acetaminophen or ibuprofen can be taken to ease the discomfort.

Although steroids (prednisone) will cause the lymph nodes to decrease in size, regardless of the cause of the enlargement, it is strongly discouraged because it could mask a serious underlying cause of the enlarged nodes, delay the correct diagnosis, and, possibly, complicate the treatment.

Rarely, us may recommend surgery to remove the lymph node so that it can be examined under the microscope for the presence of cancer or unusual infections. Usually, a course of antibiotics is administered first, before surgery is recommended. However, surgery is most likely to happen if:

      • the lymph node is large (greater than 3 centimeters, or 1 1/4 inches);
      • there are other abnormal physical examination findings, e.g., an enlarged liver and/or spleen;
      • the blood count is abnormal; or
      • the chest x-ray shows enlarged nodes.

Most people worry that a persistently enlarged lymph node is something very serious, like cancer. In children, this is rare. Even if us recommends a lymph node biopsy, it is not very likely to show cancer. In fact, in one study of 239 children who underwent lymph node biopsy, only 13% of the removed lymph nodes showed cancer.

What are the complications?

The lymph node itself may become infected (called lymphadenitis), which can be very painful, and is associated with redness and swelling. Usually, it requires antibiotics for treatment. Infrequently, the lymph node may have a pus pocket inside of it (i.e., an abscess) that requires an operation to drain it.

An enlarged lymph node that is felt immediately above the collarbone is unusual and seldom is associated with infection. If it occurs, you should contact us, as it may be a sign of a more serious condition. For example, in teenagers, swollen glands felt right above the collarbone could be the first sign of Hodgkin's disease, a type of cancer that occurs in the lymph nodes.

How can enlarged lymph nodes be prevented?

Enlarged lymph nodes cannot be prevented. The lymph node helps the body to fight infection, and, in the process, the lymph gland may increase in size. This is normal. The lymph tissue decreases in size after puberty, and it becomes less noticeable. However, you should contact us if:

      • the lymph nodes are larger than 3 centimeters, or 1 1/4 inches;
      • there are signs or symptoms of an infection, such as a sore throat, a fever, or an earache;
      • the lymph nodes are felt above the collarbone, regardless of their size; or
      • you have persistently enlarged nodes, lasting three or more weeks.

About the Author

Dr. Albano is a board certified pediatric hematologist/oncologist.

She graduated summa cum laude from Loyola University, Stritch School of Medicine and did both her pediatric residency as well as hematology/oncology fellowship at The Children's Hospital National Medical Center in Washington, DC.

Besides a full time practice in clinical oncology, Dr. Albano is actively involved in research in infections that occur in immunocompromised patients and their treatment.

Copyright 2012 Edythe A. Albano, M.D., All Rights Reserved

Erythema Multiforme 

What is Erythema Multiforme?

Erythema Multiforme is an uncommon, self-limited symmetrical skin rash with target lesions that begins abruptly and heals in 7 to 14 days.

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What causes Erythema Multiforme?

For most people, a herpes simplex virus infection causes Erythema Multiforme, such as an infection of the lip (i.e., a cold sore). Occasionally, Erythema Multiforme is caused by a herpes simplex virus infection of the genitals. Rarely, other viruses will cause it.

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Who gets Erythema Multiforme?

Erythema Multiforme most commonly occurs in adolescents and, sometimes, in school age children.

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How does the herpes simplex virus cause disease?

After growing at the site of a cold sore, the herpes simplex virus will travel through the bloodstream to the skin and then grow in the skin cells. The target lesions associated with Erythema Multiforme are the body's attempt to eliminate the virus. People who are especially susceptible to the herpes simplex virus have difficulty clearing it from their skin.

What are the common findings?

The target lesion on the skin is the most common manifestation of Erythema Multiforme. Each target lesion has at least two zones of color change that resemble an archery target. The center of the target lesion always has some skin damage, such as a scab or a blister.

A herpes simplex virus infection on the lip (i.e., a cold sore) often precedes the appearance of the target lesion(s) by one to seven days. Sometimes, though, the preceding herpes simplex virus infection does not cause cold sores, and it is called a "subclinical infection." Erythema Multiforme recurs in most people, but not necessarily after each cold sore

How is Erythema Multiforme diagnosed?

Most physicians diagnose Erythema Multiforme from the target lesions on the skin. However, Erythema Multiforme is frequently overdiagnosed, as large hives are often confused for it. Large hives have normal skin in the center; Erythema Multiforme has damaged skin in the center. Large hives often are accompanied by swelling of the hands and feet; but, Erythema Multiforme is not accompanied by such swelling. Large hives will clear up with antihistamines; but, Erythema Multiforme will not clear up with such treatment.

How is Erythema Multiforme treated?

There is not an effective treatment at the time of the attack of Erythema Multiforme. If individuals experience an attack of Erythema Multiforme every three months or less, a preventative treatment with an oral antiherpes virus agent, such as Zovirax, Valvir, or Famvir, is effective.

What are the complications?

If untreated, the target lesions on the skin will heal within two weeks. Steroid treatments may prolong an attack of Erythema Multiforme. Healing usually occurs without scarring of the skin.

How can Erythema Multiforme be prevented?

Prevention of those factors that precipitate cold sores can be helpful. For example, sunscreen use is beneficial because sun exposure may activate the herpes simplex virus that causes Erythema Multiforme.

What research is being done?

Studies are currently being conducted to examine how the body eliminates the herpes simplex virus. These studies will aid in understanding why individuals who are susceptible to the herpes simplex virus cannot effectively eliminate it despite immune responses that are normal.

About the Author

Dr. Weston is a Professor of Pediatrics and Dermatology at the University of Colorado Health Sciences Center and Chair of the Department of Dermatology. His scientific and clinical interests include Cutaneous immunology, Cutaneous virology, and Pediatric Dermatology.

Dr. Weston is the primary author of the Color Textbook of Pediatric Dermatology (Weston, Lane, Morelli; Mosby, Inc.) which is used by clinicians worldwide and is published in 4 languages.

He created the Genetic Skin Disorders clinic at the University of Colorado in 1998.

Copyright 2012 William L. Weston, M.D., All Rights Reserved

Eye Problems Related to Headache 

What is a headache?

Commonly described, a headache is pain in the head. Generally, a headache is not dangerous; however, it can be a symptom of an underlying ocular problem or a serious neurological problem.

What causes a headache related to the eye?

The following conditions related to the eye may cause a headache:

  • Convergence insufficiency: Difficulty converging both eyes simultaneously to focus on reading.

     

  • Accommodative insufficiency: Difficulty focusing one eye at a time on reading, thereby requiring reading glasses.

     

  • Migraine: Periodic attacks of a vascular headache.

     

  • Strabismus: Any misalignment of the eyes.

     

  • Refractive errors: Any need for glasses, for example, nearsighted (myopic), farsighted (hyperopic), or astigmatism.

     

  • Increased intracranial pressure: Increased pressure around the brain caused by a neurological condition.

     

  • Special conditions (for example, albinism or nystagmus): Most commonly, these conditions lead to focusing problems.

Typically, when a child complains of a headache to a pediatrician that may be attributed to eye fatigue and/or eyestrain, the child is referred to a pediatric ophthalmologist, a doctor who specializes in eye care and surgery for children. With the pediatrician, the pediatric ophthalmologist helps to diagnose and treat the child.

Who gets a headache?

Children often complain of headaches. Most commonly, these children are aged from 2 years to 19 years, with an average age of 10 years. Migraine headaches occur in 2.7% of children by age 7 and in 10.9% of children by age 14; onset in children by age 4 is not uncommon. Headaches caused by convergence or accommodative insufficiency usually do not occur until school age and often not until third or fourth grade when the reading print becomes smaller and it takes a longer time to finish assignments.

How does it cause disease?

A headache is a symptom of a problem, not a disease in its own right. The conditions listed above can be ocular causes of headaches. Headache itself does not cause medical damage, but one of the above listed conditions may cause it.

What are the common findings?

Convergence Insufficiency

Convergence insufficiency usually occurs in the school-aged child who complains of a chronic headache, typically for several months. The child may have difficulty with learning to read; in particular, the child may hold reading material close to the face in an attempt to overcome the blurry vision. This process usually overtaxes already weak convergence amplitudes, which are a measure of a person's ability to focus both eyes simultaneously on a reading target. The problem may occur several times a week, if not daily, and may occur in school or with homework, with relief on weekends or vacations. The child does not complain of headaches that awaken the child from sleep or of headaches that occur upon awakening in the morning. Nausea and vomiting do not occur with this condition. The child may complain of double vision or may be seen closing or covering one eye, presumably to avoid double vision.

Accommodative Insufficiency

The signs and symptoms of this condition are exactly the same as convergence insufficiency. The child may complain of blurry vision or may simply complain of headache with or after reading. Sometimes, accommodative spasm may be the diagnosis. In this situation, the child becomes focused excessively at near, actually locking the eyes in this focused position. Blurry vision occurs when the eyes are raised to look in the distance.

Migraine

Migraine is a common form of headache in children. Because of the frequently associated visual disturbances, children with migraine often are referred to a pediatric ophthalmologist. Migraine is classified as classic migraine, or migraine with aura; common migraine, or migraine without aura; and complicated migraine.

Migraine with Aura

Migraine with aura begins with the appearance of focal neurologic symptoms, such as numbness in a limb or facial paralysis on one side. Typically, visual symptoms last from 4 to 60 minutes (not seconds or days). Classically described, these symptoms are jagged lines of light surrounding a central blind spot that expand to the peripheral visual field. A child may describe visual symptoms as colorful, bright, flickering, turning, and moving. Some children may describe a kaleidoscope-like effect. Younger children who may not be able to describe these findings should be encouraged to draw it.

Migraine auras generally are followed by an intense, pounding headache located on one side of the head that lasts from two to four hours. The child typically will seek rest, without encouragement, in a quiet, dark room.

Migraine Without Aura

This condition is not associated with preceding visual symptoms. Instead, poorly defined symptoms, generally characterized by behavioral or gastrointestinal disturbances, precede the headache attack by hours to days. The headache begins on one side of the head but often spreads to the whole head, typically lasting hours to several days. Nausea and vomiting, photophobia (avoiding light), and phonophobia (avoiding noise or even sound) are more frequent in this type of migraine than in migraine with aura.

Complicated Migraine

This condition is associated with other neurologic phenomenon, including the ophthalmoplegic migraine, where the patient is unable to move an eye from side to side. Such a condition can occur in children, and it is characterized by periodic episodes of ophthalmoplegia, beginning at the peak of the headache and involving all functions of the oculomotor nerve. The headache usually occurs on the same side and is located around the orbit of the eye. The weakness may last for several weeks after the resolution of the headache.

An unusual form of complicated migraine is the Alice in Wonderland syndrome. Alterations in time and body image, as well as visual distortions, such as shrinking, enlargement, inversion, and elongation, characterize this syndrome.

Strabismus

Strabismus is defined as misalignment of the eyes. With this condition, the eyes can cross (esotropia), turn out (exotropia), or undergo vertical deviation (hypertropia). Any strabismus may cause headaches, with the same signs and symptoms as convergence insufficiency; however, strabismus diagnosed by the ophthalmologist differentiates the two conditions. Frequently, the parents may notice that the child covers or squints one eye with either reading or distance activity or both. Presumably, this action occurs because the child is attempting to avoid having double vision. A history of head trauma or other specific inciting event may result in nerve palsy of one of the nerves (i.e., cranial nerves III, IV, and VI) that move the eye muscles.

Refractive Errors

Refractive errors are the optical condition of the eyes that cause blurry vision, which clears by wearing glasses. Astigmatism and farsightedness are the two refractive errors that may cause a child to experience focusing problems, leading to fatigue and then headache. Astigmatism is when the front surface of the eye is shaped less like a sphere and more like an egg when one meridian is distorted. Farsightedness (hyperopia) is the optical condition when the eye is too short for the focusing system, thereby forcing the patient to excessively focus the lens of the eye (accommodate) to bring images to focus on the retina of the eye. The child often complains of headaches on school days or after long periods of reading when focusing effort has been at a maximum; no headaches occur when the child is not reading. A child with significant astigmatic error may hold reading material too close to the face simply because the words look blurry. This action, in turn, demands that the child accommodate more and converge more to be able to read. If the child holds reading material too close for too long, even normal accommodative and convergence amplitudes are inadequate to sustain long periods of reading.

Increased Intracranial Pressure

A child experiencing a headache that is caused by a brain tumor is quite significant. Classic findings include headaches that awaken the child at night, nausea and vomiting with the headache, and frequently accelerating symptoms over a relatively short time. Recurring morning headaches may be significant; however, this finding also may be related to sinus disease. Additionally, the child may complain of double vision (diplopia), jiggling vision (oscillopsia), or blurry vision. Pseudotumor cerebri is elevated pressure in the head that is not associated with an anatomic cause, such as a brain tumor or hydrocephalus. It occurs in children with prior head trauma, in children who are taking Accutane for acne, or in children who are taking prednisone, for example as part of a chemotherapy regimen. In some teenagers, this condition may occur without any reason.

Special Conditions

A child may complain of headaches that result from an unusual diagnosis, such as albinism or nystagmus. Albinism is a specific ocular disorder caused by decreased body pigment in the skin and in the eye, where vision is decreased because the retina has a deficiency of cells. Nystagmus, which is best characterized as " jiggling eyes," results because the vision is poor or because of a primary motor instability that is congenital in nature. Nystagmus also can be caused by other entities.

The history is especially important in assessing whether the headaches occur with reading or other near effort. A child with albinism complaining of headaches may experience eyestrain by holding reading material close to the face, because of the poor vision. A child with nystagmus of any cause may hold reading material close to the face because it dampens the nystagmus (reduces the jiggling) and enlarges the print.

How is a headache diagnosed?

To determine the cause of a headache relating to each of the above listed conditions, a history of the circumstances surrounding the headache and associated symptoms, a physical examination for neurological abnormalities, and an ocular examination should all be performed. The history is very important from both the parents and the child. The time course of the headache should be recorded. The frequency and the circumstances in which the headache occurs also may be important; for example, a headache may occur in school after the child reads for 15 minutes.

Associated symptoms should be explored. The pediatric ophthalmologist should be informed of other physicians who have examined the child; other tests that have been performed; other medical problems of the child; and other signs or symptoms observed by the parents, such as abnormal head positions, closing one eye, vomiting, redness, or swelling.

The eye examination is important. The pediatric ophthalmologist will check the child's visual acuity (how the child reads the eye chart) at distance and near, with one eye at a time (monocular) and with both eyes simultaneously (binocular). The child's eye alignment will be recorded in all positions of gaze (looking in every direction) and with left and right head tilt. Accommodative and convergence amplitudes will be measured, and the refractive error will be determined frequently after using dilating drops. The pediatric ophthalmologist will perform a slit lamp examination and a funduscopic examination, with close observation of the optic nerve, examining it for evidence of increased intracranial pressure.

Further diagnostic testing generally is not necessary. However, in the case of complicated migraine, glucose tolerance testing to rule out diabetes or neuroimaging (a CT scan or MRI scan of the head) to rule out serious intracranial pathology may be required. With other conditions (for example, strabismus or increased intracranial pressure), neurological testing, including neuroimaging, may be required.

How is a headache treated?

Convergence Insufficiency

To treat this condition, the pediatric ophthalmologist may prescribe a trial of patching with reading. The patch overcomes any strain induced by attempting to use the eyes together. If reading improves or if the headaches decline in frequency, magnitude, or duration with an eye patch, then the eyestrain induced by the effort to focus is being relieved.

Treatment for this condition is aimed at avoiding the problem or increasing reduced convergence amplitudes. If the child holds reading material too close to the face, then the reduced convergence amplitudes will cause eye fatigue/headaches in a shorter time frame. Therefore, holding reading material further from the face often is helpful. Exercises can be done to improve reduced convergence amplitudes. Convergence amplitudes are measured using a prism bar. When the amplitudes fall well below the normal range, exercises should be done. The exercises normalize reduced amplitudes. Relieving convergence insufficiency is the single most useful application of eye exercises.

Parents can begin this exercise with the aid of an orthoptist, who can train and instruct both the parents and the child. The parents should record feedback from this exercise. Two sessions of exercises, each lasting six to eight weeks, usually is recommended. The exercise can be performed at home, 15 minutes per day, with the supervision of an orthoptist once a month. The child should not have to enroll for a year of vision therapy. The end point of treatment for this condition is normalization of convergence amplitudes and/or relief of symptoms.

Accommodative Insufficiency

Measuring accommodative amplitudes is part of the eye examination. The near point of accommodation can be excessively recessed. Reading glasses are used to move the near point of accommodation close to the face. To treat this condition, it is recommended that the parents buy an inexpensive pair of over-the-counter reading glasses for the child to wear when reading. The headaches may resolve by either the placebo effect of the glasses or true accommodative insufficiency. In either case, the parent may choose to have a formal pair of bifocal glasses prescribed by the pediatric ophthalmologist.

Migraine

The best treatment for migraine includes reassurance, avoidance of precipitating factors, abortive therapy, and prophylactic treatment. Abortive therapy includes rest with or without the use of acetaminophen, anti-inflammatory drugs, or antiemetics. Prophylactic treatment, including beta-blockers, calcium channel blockers, or antidepressants, may be indicated for frequent, incapacitating headaches.

Strabismus

Treatment is directed at alleviating strabismus with glasses (with or without a bifocal), prism glasses, occlusion (patching the eye), or surgery. When the patient has accommodative esotropia, a hyperopic glasses prescription will alleviate the crossing of the eyes and the headaches. Prism glasses are used occasionally to optically align the eyes for small amounts of strabismus. Surgery to realign the eyes is ultimately required in numerous strabismus conditions. The mechanical realignment by moving the muscles that move the eyes is often the only treatment to relieve double vision.

Refractive Errors

For a child who is farsighted (hyperopic) or nearsighted (myopic) or who has astigmatism, glasses are required. More complicated combinations of hyperopic, myopic, astigmatic, or anisometropic refractive error require formal glasses prescriptions from a pediatric ophthalmologist. Bifocal glasses rarely are needed outside of accommodative insufficiency or high accommodative convergence/accommodation ratio.

Increased Intracranial Pressure

For the conditions related to increased intracranial pressure, such as brain tumors or hydrocephalus, neurosurgical intervention is the ultimate treatment. Follow-up care with a pediatric ophthalmologist is recommended to ensure that the optic nerve returns to its normal appearance. Additionally, computerized visual field examinations are beneficial and should be performed on a periodic basis. Any ongoing loss of visual field indicates that the intracranial pressure is not being controlled; in this case, intracranial pressure monitoring is indicated.

Special Conditions

For the child with special conditions, such as albinism and nystagmus, strong reading glasses may relieve this relative accommodative insufficieny.

What are the complications?

In the case of increased intracranial pressure, the child may continue to complain of headaches even after the appropriate treatments have been performed. Failure to control the pressure can lead to ongoing optic nerve damage. Ultimately, the child can become blind if the intracranial pressure is not controlled or if the optic nerve is not protected.

How is a headache prevented?

Routine eye examinations with a pediatric ophthalmologist are recommended to ensure that any significant eye abnormalities are diagnosed and treated appropriately.

To prevent migraine headaches, such precipitating factors as stress, chocolate, nitrates, certain cheeses, and monosodium glutamate (flavor enhancer) should be avoided. Additionally, in girls, oral contraceptives may worsen migraine headaches.

References

Honig PJ, Charney EB. Children with brain tumor headaches. Distinguishing features. Am J Dis Child. 1982 Feb;136(2):121-4.

Hupp SL, Kline LB, Corbett JJ. Visual disturbances of migraine. Surv Ophthalmol 1989 Jan-Feb;33(4):221-36.

King RA. Common ocular signs and symptoms in childhood. Pediatr Clin North Am 1993 Aug;40(4):753-66.

Mapstone T. Brain tumors in children. In: Tomsak RT, ed. Pediatric Neuro-ophthalmology. Newton: Butterworth-Heinemann Medical; 1995:79.

McManaway JW. Management of common pediatric neuro-ophthalmology problems. In: Wright KW, ed. Pediatric Ophthalmology and Strabismus. St. Louis: Mosby-Year Book; l995:63.

Moore A. Hydrocephalus. In: Taylor D, ed. Pediatric Ophthalmology. London: Blackwell Scientific; 1990:499.

Nelhaus G, Stumpf DA, Moe PG. Neurologic and muscular disorders. In: Kempe CH, Silver HK, O'Brien D, eds. Current Pediatric Diagnosis and Treatment. Los Altos: Lange Medical Publishers; 1984:653.

Troost BT. Migraine and other headache. In: Duane TD, Jaeger EA, eds. Clinical Ophthalmology. Philadelphia: Harper and Row; 1997.

About the Author

Dr. King graduated from the United States Air Force Academy in 1972, with a Bachelor of Science degree. After spending 5 years in the Air Force, he went to medical school at the University of Colorado, graduating in 1981. He completed ophthalmology residency training at the University of Colorado in 1985, followed by a pediatric ophthalmology fellowship at Wills Eye Hospital in Philadelphia in 1986. Since then he has been in private practice in Denver, specializing in pediatric ophthalmology and adult strabismus.

He has been involved in resident training at The Children's Hospital of Denver, and with other resident training programs as well. Past positions include co-director of pediatric ophthalmology at the Children's Hospital in Denver, President of the Colorado Ophthalmological Society (now the Colorado Society of Eye Physicians and Surgeons), medical board member, and co-medical director of Anchor Center for Blind Children. He has been a regular contributor at the National Symposium for Nurse Practitioners, most recently chairing a symposium on the pediatric fundoscopic exam in July 2001. He has authored numerous articles in the field of pediatric ophthalmology.

Dr. King is married. He and his wife Carla have 2 children, Eric age 17 and Brian age 10.

Copyright 2012 Robert A. King, M.D., All Rights Reserved

Febrile Seizure 

What is a Febrile Seizure?

A seizure is described as an involuntary spasm of muscles. Febrile seizures occur in developmentally and neurologically normal children between ages 6 months to 5 years of age who are also experiencing a fever and who are without an infection of the central nervous system. Febrile seizures occur in 2-5% of all children under 5 years of age. While frightening, they are generally benign events.

Two classifications exist:

  1. The simple febrile seizure is a single, brief episode associated with a fever and it resolves within 15 minutes.
  2. The complex febrile seizure lasts longer than 15 minutes and/or it recurs within a 24 hour period.

Who is at Risk for Febrile Seizures?

Three risks have been identified as possible predisposing factors for febrile seizures: height and duration of the temperature, a first degree relative with a history of febrile seizures, and if it occurs in association with vomiting and diarrhea.

One third of children will have a recurrence of a febrile seizure, more commonly between 12 - 24 months of age.

Four risks have been identified for recurrence of febrile seizures:

  1. First degree relative with a history of febrile seizures,
  2. Age of onset less than 18 months of age,
  3. Temperature greater than 104 degrees Fahrenheit (40 degrees Celsius), and
  4. Rapid onset (less than one hour between the onset of the fever and occurrence of a seizure).

How are Febrile Seizures Diagnosed?

A practitioner will perform a history and physical exam and determine if any other tests would be helpful to assess the problem. No routine blood tests are necessary to diagnose a febrile seizure.

Lumbar puncture should be performed if an infection of the nervous system is suspected or if a child is under 18 months of age and your practitioner has a concern for a nervous system infection. An electroencephalogram (EEG) is not indicated unless a complex febrile seizure occurs or if a child has a neurological abnormality. An MRI is reserved for difficult cases; for example, seizures with neurological changes and/or changes on an EEG exist.

How is a Febrile Seizure Treated?

A fever is best treated with antipyretic medication (Acetaminophen and/or Ibuprofen) and administered prior to an event. If the seizure occurs, avoid danger to the child by assuring safe placement of the head and avoiding choking. Parents should activate their local emergency medical system (i.e. call 911) if the child has a loss of consciousness for greater than 1 minute. Treatment of a single febrile seizure is not indicated since only one third of children will have a second febrile seizure.

Typically an anticonvulsant medication is chosen for children with a known underlying neurological abnormality or if a recurrent febrile seizure is prolonged. The onset of a febrile seizure does not occur with every fever; therefore, treatment is specific to the case and chosen by the practitioner and parents. Intermittent therapy has been used. Most of the medications that have been studied do have side effects (including sedation, aggressiveness, euphoria, cognitive changes, weight changes, blood abnormalities etc.). The medications include diazepam, phenobarbital, and valproate. Diazepam has been the most favorable and can be administered orally or rectally, Two drugs are ineffective in preventing recurrent febrile seizures phenytoin and carbamazepine.

What are the Complications of Febrile Seizures?

Febrile seizures do not result in serious complications, including mental retardation, a decrease in IQ, cerebral palsy, neurological damage, epilepsy or learning difficulties. Thus the simple febrile seizure has no long or short term effect. No recommendation to restrict activities exists.

Can a Febrile Seizure be Prevented?

Acetaminophen and Ibuprofen are used to treat fever but have not been proven to prevent a seizure or its recurrence. Nothing has been guaranteed to prevent an initial febrile seizure.

References

Baumann RJ, Duffner PK: Treatment of Children with Simple Febrile Seizures: The AAP Practice Parameter. Pediatric Neurology 2000;23 (1):11-17.

Shinnar S, Glauser TA: Febrile Seizures. Journal of Child Neurology 2002;17:S44-S52.

Provisional committee on Quality Improvement Subcommittee on Febrile Seizures: Practice Parameter: The Neurodiagnostic Evaluation of the Child with a First Simple Febrile Seizure. Pediatrics/AAP 1996:71-74.

Hampers L: Diagnosis and Management of Febrile Seizures. Pediatric Emergency Medicine at The Children's Hospital, Denver Colorado p 1-8.

Reviewed by: Sunit Gill MD

This Article contains the comments, views and opinions of the Author at the time of its writing and may not necessarily reflect the views of Pediatric Web, Inc., its officers, directors, affiliates or agents. No claim is made by Pediatric Web, the Author, or the Author's medical practice regarding the effectiveness and reliability of the statements contained herein and such individuals and entities disclaim any and all liability for the comments and statements contained in this Article and for any use or misuse of the statements made in this article in any specific medical situations. Further, this Article is intended to be general in nature and shall not be considered medical advice. The statements made are not to be utilized to diagnose and/or treat any individual's medical symptoms. If you or someone you know has symptoms which you believe are similar to this Article, you should discuss such symptoms with your personal physician or other qualified medical practitioner.

Copyright 2012 Pediatric Web, Inc., by Dan Feiten, M.D. All Rights Reserved

Fetal Alcohol Syndrome 

What is fetal alcohol syndrome?

Fetal alcohol syndrome is a disorder caused by alcohol exposure in the womb. Alcohol interferes with brain development in the fetus. It also causes unusual physical features in the fetus, including facial structure abnormalities and bone growth deficiencies.

What causes fetal alcohol syndrome?

Alcohol is a "teratogen," meaning it causes birth defects. When a mother drinks alcohol during her pregnancy, the alcohol in the bloodstream enters the fetal circulation and interferes with cell growth and migration. This particularly affects early brain development in the fetus. The growth of bones and organs, including the heart and the kidneys, also can be significantly affected by alcohol exposure in the womb.

Who gets fetal alcohol syndrome?

A fetus exposed to significant amounts of alcohol may be affected with fetal alcohol syndrome; whereas, a fetus exposed to alcohol for limited times during pregnancy may not be as severely affected or show evidence of fetal alcohol syndrome. Both male and female fetuses can be affected.

The disorder affects individuals differently; some individuals have mild behavioral problems or intellectual deficits, while other individuals have more severe complications with bone and organ development. Exposure in the second and third trimester of pregnancy usually leads to full fetal alcohol syndrome; however, exposure in the first trimester may interfere with brain structure. Usually, if a mother stops drinking during the first trimester of pregnancy, it is likely that the fetus will not be significantly affected with fetal alcohol syndrome.

How does alcohol cause disease?

Alcohol interferes with the metabolism of cells, and it may cause early cell death or lack of normal replication or migration.

What are the common findings?

Most children affected with full fetal alcohol syndrome have characteristic facial abnormalities, including a small opening of the eye, underdevelopment of the mid-part of the face, a thin upper lip, and a flat "philtrum" (the part of the face between the upper lip and the bottom of the nose). In addition, individuals may have poor growth of the mandible or the upper jaw. The base of the nose may be underdeveloped, and the nose may be shorter than normal. Alcohol also may cause poor growth of the head so that the head circumference is smaller than normal. In addition, these individuals may have a short stature, and are usually thin.

Alcohol also causes dysfunction of the central nervous system, which may include mental retardation or learning disabilities. Hyperactivity, with a short attention span and poor impulse control, are very common. Depression, anxiety, and panic attacks, along with psychotic thinking, including delusions or hallucinations, also are relatively common, particularly in adolescence and adulthood.

Structural brain changes are not uncommon in individuals affected by fetal alcohol syndrome. Poor development of the "corpus collosum," the band of fibers in the brain that connects the left and the right side of the brain, is common. In addition, the "cerebellum," an older area of the brain, may be underdeveloped. Rarely, other more severe brain abnormalities may occur. A limited number of individuals with fetal alcohol syndrome also may experience seizures, particularly in childhood.

Organs may be significantly affected by alcohol exposure in the womb, to include the following:

  • Kidneys: May often be small or underdeveloped
  • Heart: Can have a defect in the wall between the atria or the ventricles, or more severe malformations
  • Eyes: Abnormalities of the vessels in the retina, strabismus (lazy eye), or underdevelopment of the eyeball
  • Auditory System: A sensory neural hearing loss may occur, along with frequent ear infections
  • Skeletal System: Shortening of the fingers, vertebra, or long bones; scoliosis (curvature of the spine); or underdevelopment of the nails

How is fetal alcohol syndrome diagnosed?

Exposure to alcohol in the womb causes a wide range of abnormalities. The most severe level is Fetal Alcohol Syndrome (FAS). FAS must have a confirmed history of maternal alcohol exposure. For a full diagnosis of FAS, the patient must have the characteristic facial abnormalities, in addition to growth retardation, i.e., a low birth weight for gestational age or height/weight growth parameters less than the 10th percentile.

There also must be evidence of central nervous system neurodevelopmental abnormalities, such as small head size, structural brain abnormalities, or neurological hard or soft signs. Such signs include impaired fine motor skills, a sensory neural hearing loss, poor tandem walking, or poor hand/eye coordination.

Individuals also may be diagnosed with Partial Fetal Alcohol Syndrome (PFAS). A diagnosis of PFAS is confirmed by maternal alcohol exposure, in addition to some of the characteristic facial features, growth retardation, central nervous system neurodevelopmental abnormalities, or a complex pattern of behavioral or cognitive abnormalities.

Typically, these abnormalities are inconsistent with the child's development level, and cannot be explained by family background or environment. These features can include the following: learning difficulties; deficits in school performance; poor impulse control; problems in social perception; deficits in higher level expressive and receptive language development; poor capacity for abstraction; specific deficits in mathematical skills; or problems in memory, attention, or judgment.

Another alcohol exposure disorder is Alcohol Related Birth Defects (ARBD). ARBD requires the presence of congenital abnormalities, including malformations in the cardiac system, the skeletal system, the kidney system, the eyes, or the auditory system.

The Alcohol Related Neurodevelopmental Disorder (ARND) requires central nervous system neurodevelopmental abnormalities or a complex pattern of behavioral or cognitive abnormalities, including learning disabilities and attention deficit problems. ARND is the mildest form of fetal alcohol syndrome.

Usually, individuals have behavioral problems, such as hyperactivity or learning disabilities, but do not show abnormal facial features, which are typical of alcohol exposure. There is animal and human research indicating that abnormalities can occur in the brain, leading to learning problems or behavioral difficulties, without having abnormal facial features.

How is fetal alcohol syndrome treated?

At the time of birth, newborns exposed to significant levels of alcohol may have severe withdrawal symptoms. In approximately 33% of the cases, seizures may occur. Medication, such as phenobarbital, can be given at the time of birth to control the seizures; however, for many infants, medications are not necessary to treat withdrawal symptoms. It is important to wrap the baby tightly, to dim the lights, to reduce the noise level to avoid overstimulation, to feed the baby frequently, and to massage the baby to help relaxation.

It is possible that the baby may have significant malformations at the time of birth, such as a cleft lip or a cleft palate, and, occasionally, even a neural tube defect can be related to alcohol exposure in the womb. The baby may have problems with feeding and abdominal distention related to alcohol withdrawal. Help with oral feeding may be obtained from an occupational therapist.

It also is important to treat the alcoholism of the mother. A treatment program-including advocacy and psychological support for the mother, help with obtaining services and entitlements, parent skills training, crisis intervention, guidance and feedback, general encouragement, and a substance abuse program-is very beneficial.

Infants and preschoolers with fetal alcohol syndrome disorders should be enrolled in a developmental program that has both language and motor therapy. Hyperactivity and distractibility, which are associated with Attention Deficit Hyperactivity Disorder (ADHD), often arises in preschool. Initially, behavioral techniques should be used to control hyperactivity, both at home and at school. Tantrums and aggression also may occur in preschool. If behavioral interventions are not adequate, then medication may be helpful, even in preschool. Useful medications include clonidine (to decrease hyperarousal) or stimulant medication, such as dextroamphetamine or methylphenidate.

There is some evidence that dextroamphetamine may be more effective than methylphenidate for children with ADHD. Sleep disturbances also may occur, and the "Baby Go To Sleep Tape" may be helpful. Medication, such as clonidine, can be used at bedtime. Melatonin, which is the natural sleep hormone, also may be beneficial.

For the school-age child with a fetal alcohol syndrome disorder, deficits in language and motor development also may continue, and may require individualized speech and language therapy and occupational therapy. Some children overreact to stimuli or have sensory motor integration problems. This can worsen hyperactive and tantrum behavior, and should be treated by a sensory integration occupational therapy program. Most children with fetal alcohol syndrome require special education support. A learning disability teacher can use a multi-sensory approach for teaching academic skills, such as reading or math.

Computers may enhance academic learning and language skills for children with fetal alcohol syndrome. Computer programs may help with visual spatial perceptual skills. Such programs as "KidPix," which enhances drawing and graphics, or "Blocks in Motion," which focuses on visual spatial processing, may be beneficial. Additionally, such programs as "Oregon Trails," "Interactive Journeys," and "Where in the World is Carmen Sandiego?" use problem solving skills through reading and listening cues, and are helpful for academic progress in math and reading. Programs that enhance writing skills, such as word prediction software, can expand written language abilities.

School-age children with fetal alcohol syndrome usually have problems with ADHD. Stimulant medication, such as dextroamphetamine (Adderall and Dexedrine) or methylphenidate (Ritalin), can be helpful in this age group.

Children who are affected by alcohol exposure in the womb should have a detailed psychological assessment that documents their intellectual abilities or IQ, as well as emotional difficulties. If significant emotional problems, such as anxiety, depression, or mood swings occur, then ongoing counseling should be helpful. Sometimes, if significant anxiety or depression exists, medication, such as Prozac or Zoloft, may be helpful.

If mood swings are a problem, then mood-stabilizing medication, such as Tegretol, Depakote, or risperidone, can be helpful. Usually, medication to treat emotional or behavioral problems work best when combined with counseling by a psychologist or a mental health professional.

What are the complications?

The main complications associated with FAS, PFAS, or ARND are the secondary disabilities that are prominent in adolescence and adulthood. There is a high rate of mental health problems, and 94% of individuals experience these difficulties. The combination of mental health problems, in addition to a high rate of substance abuse, can lead to legal problems.

In a large study of over 400 individuals with fetal alcohol syndrome disorders, conducted in Seattle by Dr. Streissguth and her colleagues, it was found that 32% of adolescents and 42% of adults were jailed for a crime. Alcohol problems also occurred in 42% of adults. This high rate of social problems demands more intensive intervention in childhood to avoid these secondary disabilities.

Individuals also may suffer from complications related to medications. For instance, stimulant medications can decrease appetite and interfere with normal growth when weight loss occurs. Careful monitoring of blood levels and liver function studies are required with some of the mood stabilizers, because they may decrease the white blood cell count or irritate the liver.

How are the complications of fetal alcohol syndrome prevented?

Careful medical follow-up, particularly when individuals are treated with medication, is necessary. When taking medication, individuals should visit their doctor at least two to three times a year.

The prevention of secondary disabilities is a more complicated issue, and it requires intensive treatment from early childhood. Long-term counseling in adolescence and early adulthood, in addition to more intensive vocational training with a job skill trainer, is beneficial. Early education regarding the complications of drug and alcohol use also is important. If these problems develop, an intensive substance abuse program is necessary.

What research is being done?

Research is being conducted regarding the prevention of fetal alcohol syndrome. There is a massive public health program to educate women regarding the problems associated with alcohol use when they are pregnant.

Very little research has been performed regarding the treatment of those individuals who are affected by fetal alcohol syndrome. There is a great need for controlled research regarding psychopharmacological interventions and educational interventions. Animal research has suggested that cholinergic drugs may be beneficial for treating hyperactivity and cognitive deficits; however, these, and other new drugs, have not yet been studied in humans.

Research regarding innovative computer programs that enhance learning, such as the "Fast Forward" program, using a computerized slowing of speech to improve auditory processing deficits, may be helpful. However, these studies also have yet to be conducted.

Links to additional information

National Organization of Fetal Alcohol Syndrome (NOFAS)

1819 H Street NW, Suite 750

Washington, DC 20006

Phone: (202) 785-4585

Fax: (202) 466-6456

E-mail: NOFAS@erols.com

Web: http://www.nofas.org

Family Empowerment Network: Supporting Families Affected by Fetal Alcohol Syndrome and Effects

University of Wisconsin

519 Lowell Hall

610 Langdon Street

Madison, WI 53703

Phone: (800) 462-5254

Fax: (608) 262-6590

E-mail: fen@mail.dsc.wisc.edu

Fetal Alcohol Information Service

P.O. Box 95597

eattle, WA 98145-2597

National Association for Perinatal Addiction Research and Education (NAPARE)

11 E. Hubbard Street 200

Chicago, IL 60611

Fetal Alcohol Education Program

Boston University School of Medicine

1975 Maine Street

Concord, MA 01742

Phone: (978) 369-7713

FAS Family Resource Institute (FAS*FRI)

P.O. Box 2525

Lynnwood, WA 98036

Phone: (800) 999-3429

Fetal Alcohol and Drug Unit

University of Washington

180 Nickerson Street, Suite 309

Seattle, WA 98109

Phone: (206) 543-7155

National Clearing House for Alcohol and Drug Information (NCAID)

P.O. Box 2345

Rockville, MD 20852

Phone: (800) 729-6686

Product Information

The "Baby Go To Sleep" tape may be obtained by calling (800) 537-7748.

General reading

Dorris, M. (1989) The Broken Cord. New York: Harper Collins.

Kleinfeld, J.K. and Wescott, S. (eds.) (1993) Fantastic Antone Succeeds! Experiences in Educating Children with Fetal Alcohol Syndrome. Fairbanks: University of Alaska Press.

Streissguth, A.P. and Kanter, J. (eds.) (1997) The Challenge of Fetal Alcohol Syndrome: Overcoming Secondary Disabilities. Seattle: University of Washington Press.

Streissguth, A. (1997) Fetal Alcohol Syndrome: A Guide for Families and Communities. Baltimore, MD: Paul H. Brooks Publishing.

Hagerman, R.J. (1999) Fetal Alcohol Syndrome. In: Neurodevelopmental Disorders: Diagnosis and Treatment. New York: Oxford University Press.

About the Author

Dr. Hagerman received her M.D. from Stanford Medical School and completed her pediatric residency at Stanford and at the University of California San Diego. She is now a Professor of Pediatrics at the University of Colorado Health Sciences Center and Co-Section Head of Developmental and Behavioral Pediatrics.

Her research interests are in Fragile X Syndrome, Fetal Alcohol Syndrome, organic causes of ADHD and behavioral phenotypes.

Copyright 2012 Randi Hagerman, M.D., All Rights Reserved

Fifth Disease (Erythema Infectiosum) 

What is Fifth Disease?

Fifth Disease, also known as "erythema infectiosum," is a mild, self-limited viral infection. It most commonly occurs in children, and is characterized primarily by fever and a distinctive rash, usually over the cheeks. This distinctive rash is responsible for another name occasionally used for this disease, "slapped-cheek disease."

What causes Fifth Disease?

Fifth Disease is caused by human parvovirus B19, a DNA virus in the parvovirus family of viruses. This is the only virus in this family that causes disease in humans.

Who gets Fifth Disease?

Parvovirus B19 predominantly infects school children. Children generally acquire an infection during the school months, until May and June. Epidemics occur approximately every six years, and last approximately three years.

How does parvovirus B-19 cause disease?

Parvovirus B19 is transmitted from person-to-person by direct contact or by contaminated secretions of the nose and the mouth. Parvovirus B19 infects the lining of the nose and the upper respiratory tract. Then, it is spread through the blood throughout the body, which causes the rash. The virus also infects the bone marrow cells that are responsible for producing new red blood cells. This particular characteristic may result in complications in those persons who have an underlying anemia or other blood disorder.

What are the common findings?

Fifth Disease can be divided into four phases: 1) the incubation phase, 2) the prodromal phase, 3) the rash phase, and 4) the recovery phase. The incubation phase typically lasts 8 to 12 days after exposure to the virus and does not have any symptoms. During the prodromal phase, the symptoms are mild and include a headache, a low-grade fever, fatigue, and a sore throat. These symptoms usually last for a few days and then resolve. The rash that develops produces an intense rose-red color on both cheeks that does not involve the area around the mouth. This rash is often referred to as the "slapped cheek" rash because of its appearance. The rash usually lasts one to four days and then fades. On other parts of the body, a less prominent rash can occur at the same time or within one to two days. The chest, arms, and legs can develop a flat red rash that has a lace-like appearance.

Adults who get a parvovirus B19 infection are more likely than children to develop joint aches and pains. This typically develops at the time that the rash appears. The joint symptoms usually resolve within four months, but they may persist for a year or more.

How is Fifth Disease diagnosed?

The infection is usually diagnosed by the characteristic appearance of the rash in a child with a fever and no other symptoms. A blood test is available to confirm the infection; however, it usually is not necessary.

How is Fifth Disease treated?

Specific treatment for Fifth Disease is not available. Antibiotics are not helpful because a virus causes Fifth Disease. Viruses cannot be treated with antibiotics. Fever and pain should be treated with acetaminophen or ibuprofen. The disease is usually mild with complete recovery.

Patients with underlying anemia may require a blood transfusion during the acute illness, but they then recover to their previous state of health.

What are the complications?

Children who have underlying anemia are at risk for developing worse anemia with the parvovirus B19 infection. The virus infects the blood cells that produce red blood cells and causes a temporary decrease in the production of red blood cells. Some children require one or, occasionally, more transfusions. Usually, there is recovery within one to two weeks, with a return to normal blood counts within three to four weeks.

The parvovirus B19 infection in pregnant women can result in transmission of the virus to the fetus, and the bone marrow cells of the fetus are infected. This results in anemia in the fetus and leads to the condition known as "hydrops fetalis," which is associated with fetal heart failure and may cause fetal death and spontaneous abortion. However, even if a woman acquires the parvovirus B19 infection during pregnancy, chances for fetal survival are probably 90%. The virus does not cause birth defects or other problems if the fetus survives the period of the maternal infection

How can Fifth Disease be prevented?

A vaccine is not available for the human parvovirus B19 infection. Because of the widespread nature of the virus, there is no way to eliminate the risk of exposure. Healthy children with Fifth Disease can attend day care or school because they are most contagious before the rash, and are unlikely to be contagious after the onset of the rash.

Routine exclusion of pregnant women from the workplace or social events is not recommended. Pregnant women who find that they have been in close contact with children in the few days before the onset of the rash of Fifth Disease, or of children who had anemia from Fifth Disease, are at a low risk of infection and complications. Blood tests and fetal ultrasound can help assess the possibility of infection of the fetus.

What research is being done?

Substantial research is currently being performed to develop a vaccine to prevent the human parvovirus B19 infection. If proved to be safe and effective, a vaccine could be administered to children early in life to prevent infection during childhood. The vaccine also could be administered during pregnancy to prevent the occasional fetal death that occurs from the parvovirus B19 infection.

About the Authors

Hal Jenson, M.D.

Dr. Jenson graduated from George Washington University School of Medicine in Washington, DC,

He also completed a residency in pediatrics at the Rainbow Babies and Children's Hospital of Case Western Reserve University in Cleveland, Ohio, and a fellowship in pediatric infectious diseases and epidemiology at Yale University School of Medicine.

Dr. Jenson has an active research program on the biology of Epstein-Barr virus and other human and non-human primate herpes viruses.

He is active in the general pediatric and infectious diseases teaching and clinical activities of his Department and Division, is a co-editor of Nelson Textbook of Pediatrics and of Pediatric Infectious Diseases: Principles and Practice, and authors the book Pocket Guide to Vaccination and Prophylaxis.

Charles T. Leach, M.D.

Dr. Leach received his medical degree at the University of Utah School of Medicine and completed his pediatrics residency as well as a fellowship in pediatric infectious diseases at UCLA.

He is currently Associate Professor and Director of Research in the Department of Pediatrics at the University of Texas Health Science Center at San Antonio.

Dr. Leach conducts scientific research in the areas of herpes virus infections, pediatric AIDS, and infectious diseases among residents of the Texas-Mexico border.

Copyright 2012 Hal B. Jenson, M.D., All Rights Reserved

Flu 

What is influenza?

Influenza, commonly referred to as the "flu," is an acute, contagious respiratory infection. The first of the human respiratory viruses to be isolated and characterized, influenza viruses have been studied the most extensively and are the best understood. The term itself, "influenza," may have come from the Latin word influo, meaning "to flow in," perhaps indicating its airborne transmission, or it may be of Italian origin, relating to an "influence," such as the weather, or mystical astrologic causes.

What causes influenza?

Influenza is caused by strains of the orthomyxoviruses. The influenza viruses are comprised of three major types-A, B, and C-and multiple subtypes. Influenza A and B are the two types of influenza viruses that most often cause disease in humans. Influenza A and B viruses have been studied more extensively than influenza C viruses.

How does it cause disease?

Influenza is most prevalent in the winter and the spring. It occurs following close contact with a person who has the illness. Spread by discharges from the mouth and nose of an infected person, the virus is then inhaled and multiplies in the newly infected person. Influenza may occur on a sporadic basis, or it may occur as epidemic influenza (i.e., involving a large, regional population) or as pandemic influenza (i.e., involving a worldwide population).

Who gets influenza?

All persons may contract influenza; however, younger children (under 2 years), pregnant women, American Indians, Alaskan Natives and older adults (over 65 years) are the most susceptible to its effects. Persons at high risk for the complications associated with influenza include those with preexisting medical conditions, such as:

  • Asthma
  • Neurological and neurodevelopmental conditions
  • Chronic lung disease
  • Heart disease
  • Blood disorders (such as sickle cell disease)
  • Endocrine disorders (such as diabetes mellitus)
  • Kidney disorders
  • Liver disorders
  • Metabolic disorders (such as inherited metabolic disorders and mitochondrial disorders)
  • Weakened immune system due to disease or medication (such as people with HIV or AIDS, or cancer, or those on chronic steroids)
  • People younger than 19 years of age who are receiving long-term aspirin therapy
  • People who are morbidly obese (Body Mass Index [BMI] of 40 or greater)

What are the common findings?

In young children, the most common findings of type A influenza include its sudden onset and its associated symptoms of high fever, headache, lack of appetite, fatigue, chills, and muscle aches. Common respiratory findings include a cough, a runny nose, and a sore throat. Other symptoms may include abdominal pain, swollen lymph nodes in the neck area, nausea, vomiting, and diarrhea.

In older children and adolescents with type A influenza, the onset of the illness is abrupt, and is associated with high fever, flushed face, chills, headache, muscle aches, and fatigue.

In type B influenza, children often will have typical "flu-like" symptoms with fever; however, adults frequently will have only respiratory tract symptoms without significant fever.

Influenza C viruses cause illnesses similar to type A influenza; however, the severity of the disease is usually less, and the duration of it is shorter.

How is influenza diagnosed?

Infection with the influenza virus is diagnosed more accurately from groups of patients exhibiting the classic symptoms of influenza, rather than an individual patient. Epidemics occur each winter, and usually begin with a sudden increase in its appearance in the primary care facilities of school-age children with febrile (associated with fever) respiratory tract illnesses.

A diagnostic test called a "Rapid Flu Test" is now available in most physician's offices. Unfortunately, the reliability of these tests is variable and a person with a negative test may still have the flu. Your health care provider will often make the diagnosis of flu based on your symptoms and physical exam. In certain circumstances, your provider may decide to send a nasal swab to a specialized laboratory for a more definitive diagnosis.

How is influenza treated?

For types A and B influenza viruses, the illness usually resolves itself after several days; however, fatigue and persistent coughing can last for two or more weeks. Bed rest, adequate hydration with oral fluids, control of fever and muscle aches with acetaminophen, and maintenance of comfortable breathing with nasal decongestants and humidifiers are the best courses of treatment in uncomplicated cases of influenza. A persistent cough may be treated with cough suppressants.

Preventative administration of antibiotics should be discouraged. For complicated cases of influenza, a physician should evaluate the patient, and may recommend antibiotic treatment for possible secondary bacterial infections. The neuraminidase inhibitor oseltamivir (Tamiflu) is FDA-approved for the treatment of uncomplicated acute influenza in patients 1 year and older who have been symptomatic for no more than 2 days. The neuraminidase inhibitor zanamivir formulated for oral inhalation (Relenza) is FDA-approved for the treatment of influenza in patients 7 years of age and older who, similar to approved uses for oseltamivir, have uncomplicated illness and have been symptomatic for no more than 2 days.  These treatments have limited benefit and are recommended only for those HIGH RISK patients (see list above) or patients with severe symptoms.

What are the complications?

A patient's recovery from a case of uncomplicated influenza generally is considered to be excellent.

Complications that may occur as a result of influenza include bacterial infections of the respiratory tract (particularly pneumonia), acute otitis media (ear infections), and sinusitis. Acute myositis, (i.e., severe pain and tenderness in the calves of both legs that occurs suddenly, often with a refusal to walk) may also occur.

Reye's syndrome may occur as a result of influenza, most commonly when aspirin or aspirin-containing compounds are used in children with influenza. Reye's syndrome is a constellation of symptoms that can result in degeneration of the liver and/or swelling of the brain.

Rare complications of influenza include encephalitis and other neurologic illnesses (e.g., transverse myelitis, Guillain-Barr syndrome, Parkinson disease), cardiac inflammation (e.g., pericarditis, myocarditis), and kidney failure following myositis (acute inflammation of the muscle).

Despite improvements in living standards and the introduction of antibiotics, an average of 30,000 deaths still are attributed to influenza each year. Most deaths occur in those patients with preexisting chronic medical conditions involving the pulmonary or the cardiovascular systems, in very young patients (less than two years of age), or in elderly patients (older than 65 years of age).

How can influenza be prevented?

The influenza vaccine is the primary method for preventing influenza and its more severe complications. To be effective, the vaccine must contain antigens similar to those of the most likely current strain of the virus. In years when a new strain arises and causes widespread outbreaks, the available vaccine may contain a previous strain of the virus, which may give only modest protection from the flu.

Worth noting, the influenza vaccine does not affect the safety of mothers who are breastfeeding or their infants.

For those previously unvaccinated children who are 6 months to 8 years of age, two doses of the vaccine should be administered at least one month apart in order for it to be effective. For those children who are older than nine years, only one dose of the vaccine is necessary.

A live, attenuated (weakened) influenza virus vaccine (FluMist") administered by nasal spray is now available for healthy children over 2 years of age.  Recent studies have suggested that this flu nasal spray provides better protection to children and all children between 2 and 8 years of age should receive this nasal spray vaccine. If it is not available, these children should still receive a flu shot.

The live flu nasal spray should not be used in the following populations:

  • Persons aged <2 years or >49 years;
  • Those with contraindications listed in the package insert:
    • Children aged 2 through 17 years who are receiving aspirin or aspirin-containing products;
    • Persons who have experienced severe allergic reactions to the vaccine or any of its components, or to a previous dose of any influenza vaccine;
  • Pregnant women;
  • Immunosuppressed persons;
  • Persons with a history of egg allergy;
  • Children aged 2 through 4 years who have asthma or who have had a wheezing episode noted in the medical record within the past 12 months, or for whom parents report that a health care provider stated that they had wheezing or asthma within the last 12 months (Table [footnote]). [For those aged ≥5 years with asthma, recommendations are described in item 4 of this list];
  • Children with High Risk conditions (see list above) should consult their healthcare provider for studies are limited.
  • Children who are severely immunosuppressed
  • Persons who have taken influenza antiviral medications within the previous 48 hours.

Side effects to the vaccine may occur, and they include fever, "flu-like" symptoms of fatigue and muscle aches, and tenderness at the site of the inoculation (if given by injection). The occurrence of febrile convulsions, which have been associated with the vaccine in very young patients, is rare, and studies have shown no association of an increased frequency of Guillain-Barr syndrome and the influenza vaccine.

Can the influenza vaccine prevent acute otitis media?

Acute otitis media (i.e., ear infection) is the most common cause for illness visits to the pediatrician in the United States, most often occurring in children between the ages of 6 months and 3 years, with the highest incidence in the 6- to 12-month age group.

Studies suggest that the influenza vaccine can decrease the incidence of acute otitis media in children, especially those children between the ages of 6 and 30 months, during the influenza season. These same studies also suggest that other vaccines against respiratory viruses may be an effective way to reduce the incidence of acute otitis media in children.

What research is being done?

Whereas the currently available antiviral drugs, oseltamivir and zanamivir, are effective against influenza A and B viruses, recent resistance has been reported. In intravenous medication, panamivir has been approved for administration to severely ill hospitalized patients with influenza.

Links to other information

Information regarding influenza is available through the Centers for Disease Control and Prevention (CDC) Web site at CDC FLU FACTS.

State and local health departments can be contacted for information regarding the availability of the influenza vaccine, access to vaccination programs, and information about state or local influenza activity.

References

Belshe RB, Mendelman PM, Treanor J, King J, et al. The efficacy of live attenuated, cold-adapted, trivalent, intranasal influenza virus vaccine in children. N Engl J Med 1998;338:1405-12.

Buchman CA, Doyle WJ, Skoner DP, Post JC, et al. Influenza A virus-induced acute otitis media. J Infect Dis 1995;172:1348-51.

Clements DA, Langdon L, Bland C, Walter E. Influenza A vaccine decreases the incidence of otitis media in 6- to 30-month-old children in day care. Arch Pediatr Adolesc Med 1995;149:1113-7.

Glezen WP. Emerging infections: pandemic influenza. Epidemiol Rev 1996;18(1):64-76.

Glezen WP. Influenza control-unfinished business. JAMA 1999; 281:994-5.

Glezen WP. Influenza viruses. In: Feigin RD, Cherry JD, eds. Textbook of pediatric infectious diseases. 4th ed. Philadelphia: WB Saunders, 1998:2024-37.

Glezen WP, Taber LH, Frank AL, Gruber WC, et al. Influenza virus infections in infants. Pediatr Infect Dis J 1997;16:1065-8.

Heikkinen T, Ruuskanen O, Waris M, Ziegler T, et al. Influenza vaccination in the prevention of acute otitis media in children. AJDC 1991;145:445-8.

U.S. Department of Health and Human Services/Centers for Disease Control and Prevention (CDC). Prevention and control of influenza: recommendations of the Advisory Committee on Immunization Practices (ACIP). Mor Mortal Wkly Rep 1999;48(RR-4):1-28.

About the Author

Dr. Glezen is professor of microbiology and pediatrics at Baylor College of Medicine in Houston, Texas. His research has focused on the consequences and the prevention of respiratory viruses in children.

Dr. Glezen has published more than 125 papers and chapters related to his research. His three grandchildren, Claire, Tyler, and Meghan Gahm, have flourished under the pediatric care of Dr. Dan Feiten.

Reviewed 11/3/2010

Revised 11/3/2010

Copyright 2012 W. Paul Glezen, M.D., All Rights Reserved

Food Born Illnesses 
 
 
Fragile X Syndrome 

What is fragile X syndrome?

Fragile X syndrome, also known as FXS, is a genetic disorder, which causes a wide range of problems, from learning disabilities or attention deficits to more significant developmental delays or mental retardation. Fragile X syndrome also can cause significant emotional or behavioral problems, including anxiety, panic attacks, and hyperactivity or Attention Deficit Hyperactivity Disorder (ADHD). Fragile X syndrome is the most common cause of inherited mental retardation.

What causes fragile X syndrome?

Fragile X syndrome is caused by a mutation in the Fragile X Mental Retardation 1 gene (FMR1), which is located on the bottom end of the X chromosome. The FMR1 gene produces a protein that is important for normal brain development. In studies, where the X chromosome is viewed under the microscope, it narrows at the site of the mutation. This narrowing makes the X chromosome look fragile, as if it would break, hence the name, fragile X syndrome.

The mutation is made up of a repeat of the DNA nucleotide code, CGG. If you think of DNA as a twisted ladder, the nucleotides represent the rungs on the ladder, and, at the FMR1 gene, one side of the ladder has the repetitive CGG sequence. In normal individuals, there are approximately 5 to 50 CGG repeats. In individuals who are carriers of fragile X syndrome, but, usually, are not intellectually affected, the CGG repeat is expanded from approximately 50 to 200 repeats. In individuals who are significantly affected by fragile X syndrome, the CGG repetitions expand to greater than 200, and, sometimes, up to 2,000. This is called the full mutation.

The full mutation undergoes a process of methylation, whereby a methyl group (CH3) is placed on the backbone of the DNA, and the gene is "turned off." Because the gene is turned off, the protein it usually makes is not made. It is the absence-or a deficiency-of the FMR1 protein that causes fragile X syndrome. Some individuals may have cells with the premutation (50 to 200 CGG repeats) and other cells with the full mutation (greater than 200 CGG repeats), so they produce a limited amount of protein, and may be less affected than those individuals who have a full mutation.

Who gets fragile X syndrome?

Boys are more often affected by fragile X syndrome, because they have only one X chromosome. Their other sex chromosome is Y, which makes them male. If they have a full mutation on their X chromosome, they will be significantly affected by fragile X syndrome. Girls, on the other hand, have two X chromosomes. If a full mutation occurs on only one of them, then their other X chromosome will produce some FMR1 protein, if not a full amount. Thus, they will be less affected, as compared to males. Usually, girls with the full mutation have learning disabilities or attention deficit problems; although, in approximately 70% of cases, their IQ will be either in the borderline range (70 to 85) or in the mildly retarded range (50 to 69).

Both males and females can be carriers of this disorder with the premutation. A CGG expansion to the full mutation only occurs when a woman passes on this mutation to the next generation. Therefore, all children who are affected with fragile X syndrome have a mother who is a carrier. Because she has two X chromosomes (one normal and one premutation), the carrier mother has a 50% chance of passing on the mutation to each of her children. Fragile X syndrome usually affects multiple individuals in a family tree; therefore, genetic counseling is important. A genetic counselor will review the problems of all individuals in an extended family, and will talk with family members who are at risk of being a carrier or affected by this disorder.

How does a FMR1 mutation cause disease?

The FMR1 mutation causes disease because the CGG expansion in the full mutation range will turn off the gene, which, in turn, prevents the production of the FMR1 protein. The FMR1 protein controls the production of many other messages made by cells in the central nervous system. The FMR1 protein is thought to be important in determining that proper connections are made between nerve cells in early development.

What are the common findings?

Most children with fragile X syndrome have language delays, i.e., they may not speak in phrases or sentences by 2 or 2 years of age. They also may be hyperactive, inattentive, or impulsive early in childhood, which can lead to a diagnosis of ADHD. Children with FXS are usually extra sensitive to stimuli in their environment, and they frequently have tantrums or emotional outbursts in crowded situations or when making a transition between activities. Shyness or social anxiety may be a common problem; however, initially, many individuals may be shy, and, subsequently, they become impulsive or talkative in social interactions.

Most children with FXS have changes in their connective tissue, such as soft skin, "double-jointed" fingers and thumbs, prominent ears, or a long face. Large testicles are commonly seen in boys with fragile X syndrome; however, this only begins to occur in adolescence or just before the onset of puberty.

Many children may be diagnosed with autistic-like features, such as hand flapping, hand biting, poor eye contact, repetitive speech, and sensitivity to being touched. Approximately 15% of children with FXS also have a diagnosis of autism. These children have more significant social deficits, in addition to shyness. However, most individuals affected by FXS are interested in social interactions and are quite friendly.

Medical problems commonly associated with FXS include recurrent ear infections, perhaps, because of looseness in the connective tissue. This problem is seen in over 60% of cases, and often leads to the placement of pressure equalizing tubes in the eardrums. Rarely, individuals with FXS may have hernias or joint dislocations. Recurrent vomiting is a common problem at the time of birth, and, occasionally, may persist into childhood. Seizures may occur in approximately 20% of patients. Typically, seizures start in early childhood, are usually easily controlled with medication, and often disappear by adolescence or adulthood. Eye problems may be seen in up to 50% of children, including a lazy eye or a need for glasses.

How is fragile X syndrome diagnosed?

Fragile X syndrome can be diagnosed by two methods; both involve a blood test. The first method is called cytogenetic testing. The white blood cells are grown in a lab to show the fragile site on the bottom end of the X chromosome. Not every individual affected by FXS will show the fragile site on the X chromosome. The second method is called FMR1 DNA testing. This method costs approximately $200, which is less expensive than cytogenetic testing. DNA testing will demonstrate the CGG repeat number at the FMR1 gene. This test will diagnose all individuals affected by fragile X syndrome. It also will identify those individuals who are carriers, which cytogenetic testing does not. DNA testing is the best method of diagnosis. Your doctor can order DNA testing or cytogenetic testing on your child, but all individuals who are suspected of having the Fragile X chromosome should have a DNA test, even if cytogenetic testing was previously performed. Rarely, an individual who is positive on cytogenetic testing may be negative on DNA testing, meaning they do not have a mutation at the FMR1 gene.

How is fragile X syndrome treated?

All individuals who are affected by FXS require speech and language therapy and occupational therapy, usually with a sensory integration approach. These therapies stimulate and improve motor and language development. In children who have more severe motor problems, treatment by a physical therapist also is necessary.

Most children affected by FXS also will require special education support in school, including individual and/or group tutoring to help academic progress. Children with FXS often have difficulty with math and, sometimes, spelling and reading. Most children can be mainstreamed into a regular classroom; however, they may require an aide to modify regular classroom assignments and to help them complete work.

Medications can be helpful for treating behavior and emotional problems. The use of stimulant medication, such as methylphenidate (Ritalin) and dextroamphetamine (Dexedrine or Adderall), are helpful for the majority of children with FXS who have significant hyperactivity, short attention spans, or impulsive behavior. Usually, these medications are tried at 5 years of age or older; although, occasionally, they can be helpful in the preschool period. Clonidine or guanfacine (Tenex) are medications that can reduce hyperactivity or overstimulation and improve tantrum behavior. These medications can be used after age 3 and, sometimes, can be combined with stimulant medication. The Selective Serotonin Reuptake Inhibitors (SSRIs), such as Prozac, Zoloft, Paxil, or Luvox, can be helpful in treating anxiety, panic attacks, obsessive compulsive behavior, or aggression and outburst behavior. These medications can be used in childhood, adolescence, or adulthood. Sometimes, severe behavioral problems may require the use of an atypical anti-psychotic drug, such as risperidone; however, such a drug should be used in low doses, when necessary.

Medical therapy includes treating associated problems, such as recurrent ear infections. These require the use of either preventive antibiotics or pressure equalizing tubes to ensure that hearing is normalized and not damaged by continued infections. All children with FXS should be seen by an eye doctor to rule out the possibility of a weak eye muscle or the need for glasses, which occurs in approximately 30% to 50% of cases. If orthopedic problems occur, such as recurrent joint dislocations or severe flat feet, an orthopedist should be seen. Severe flat feet may require the use of a shoe insert or high top shoes with a firm arch to provide appropriate support for the foot. Rarely, joint problems may require surgery.

A treatment program should include genetic counseling where parents can review the family tree and determine who is at risk for being a carrier or being affected with FXS. Siblings of a child with FXS should be tested for it with FMR1 DNA testing. Genetic counseling is available to guide prenatal diagnostic procedures, which can identify the degree of the mutation of the fetus at approximately 10 to 15 weeks of pregnancy. Approximately 1 in 200 women in the general population is a carrier of FXS, and approximately 1 in 2,000 women is affected by FXS.

What are the complications?

The complications of treating FXS include side effects from the medications that are used. Higher doses of stimulant medication can cause weight loss, sleep disturbances, or high blood pressure. Children who are treated with medications should see their physicians at least 2 to 3 times per year to follow growth parameters and blood pressure. Medications, such as clonidine or guanfacine, can cause significant sedation, and also may require an EKG. The SSRIs can cause gastrointestinal disturbances or diarrhea, which can be improved by adjusting the dosage or changing to a different medication. Careful follow-up with us about side effects can lead to medication changes and improved symptoms.

How is fragile X syndrome prevented?

It is possible to perform prenatal diagnostic testing for FXS using the FMR1 DNA test. If the fetus is positive for the full mutation, the parents can elect to terminate the pregnancy. Such decisions regarding termination or carrying on a pregnancy with a fetus affected with FXS are very personal decisions. The family must make the decision that is right for them. The genetic counselor and the physician will be supportive of the family's decision.

What research is being done?

A variety of research projects on fragile X syndrome are being conducted throughout the world. A "knockout mouse model" has been developed where the FMR1 gene is missing. These mice tend to be hyperactive and somewhat learning disabled on psychological tasks. They also have large testicles and changes in their brain, which appear to be similar to humans affected with FXS. The knockout mouse model may be helpful for gene therapy research, where the gene is either replaced or protein is given to the animal to relieve the symptoms. Research also is being conducted on how to "turn on" the gene to produce the FMR1 protein in the nerve cells of FXS patients. Gene replacement therapy or therapy to turn on the gene has not occurred in humans, but it is occurring in test tubes and in animal models.

In addition, research is being performed to determine the best treatments, including medication and educational and/or computer technology, to improve learning in those individuals affected with FXS.

Links to additional information

The National Fragile X Foundation

P.O. Box 190488

San Francisco, CA 94119-0488

Phone: (800) 688-8765

E-mail: natlfx@sprintmail.com

Web: www.fragilex.org

FRAXA Research Foundation

P.O. Box 935

West Newbury, MA 01985-0935

Phone: (978) 462-1866

E-mail: info@fraxa.org

Web: www.fraxa.org

Reading for families

Fragile, Handle With Care: Understanding Fragile X Syndrome. Braden, M. (1997) Chapel Hill: Avanta Publishing. (Can be obtained from The National Fragile X Foundation.)

Fragile X Syndrome: Diagnosis, Treatment and Research, 2nd edition. Hagerman, R.J. and Cronister, A. (eds) (1996) Baltimore: The Johns Hopkins University Press.

Fragile X Syndrome. Hagerman, R.J. (1999) In: "Neurodevelopmental Disorders: Diagnosis and Treatment." New York: Oxford University Press, 61-132.

A Parent's Guide to Drug Treatment of Fragile X Syndrome. Tranfaglia, M.R. (1996) FRAXA Research Foundation, West Newbury, MA.

Transitioning "Special" Children Into Elementary School. Weber, J.D. Books Beyond Borders, Inc., 1881 4th Street, #108, Boulder, CO 80302 (1-800-347-6440).

Reading for children

Boys With Fragile X Syndrome. O'Connor, R. (1995). (Can be obtained from the National Fragile X Foundation.)

My Brother Has Fragile X Syndrome. Steiger, C. (1998) Chapel Hill: Avanta Publishing.

(Can be obtained by calling 1-800-434-0322.)

About the Author

Dr. Hagerman received her M.D. from Stanford Medical School and completed her pediatric residency at Stanford and at the University of California San Diego. She is now a Professor of Pediatrics at the University of Colorado Health Sciences Center and Co-Section Head of Developmental and Behavioral Pediatrics.

Her research interests are in Fragile X Syndrome, Fetal Alcohol Syndrome, organic causes of ADHD and behavioral phenotypes.

Copyright 2012 Randi Hagerman, M.D., All Rights Reserved

Gastroenteritis, Viral 

What is gastroesophageal reflux?

Gastroesophageal reflux (also called "chalasia," GER, or GERD) is the effortless regurgitation of stomach contents back into the esophagus. It may be associated with vomiting and spitting up, especially in young infants. 

What causes gastroesophageal reflux? 

The cause of this condition is not completely understood. However, from studies in which the esophagus is monitored for the presence of gastric contents, everyone refluxes occasionally, especially in the hour after eating. It is thought that reflux of stomach contents occurs when the sphincter muscle at the lower end of the esophagus relaxes temporarily, removing the barrier that prevents gastric contents from flowing into the esophagus. These temporary relaxations occur more frequently after meals, allowing reflux to occur two to three times in the hour after eating.

In healthy individuals, reflux episodes do not occur during sleep. In patients with abnormal amounts of reflux, episodes not only occur after eating, but also during sleep, and they last longer. As a consequence of more frequent and longer episodes of reflux, the esophagus is exposed to the damaging effects of stomach acid for a longer proportion of the day. Secondary changes in the muscle function of the esophagus as a result of acid damage may allow for yet more reflux to occur. In a small number of reflux episodes, the precipitating event may be straining, sneezing, coughing, or other activities that increase the pressure on the stomach, forcing contents into the esophagus.

It is rare that the sole cause of acid reflux is an "immature sphincter" or a low-pressure sphincter. Even in the youngest infants, the lower esophageal sphincter is well developed and provides a barrier against reflux. Food allergy has been thought to cause reflux, both in infants and in older children, but it is probably a cause in only a minority of cases.

Who gets gastroesophageal reflux?

Everybody refluxes a little; therefore, data on incidence are not entirely clear because separating normal from abnormal is not always definite. Infants under six months seem particularly at risk for acid reflux. Some studies have estimated that as many as 40% of healthy, thriving babies who are under 6 months of age have abnormal amounts of acid reflux. The major symptom at this young age is recurrent spitting and vomiting.

By 12 to 16 months of age, there is a dramatic decrease in the number of infants with symptoms of GER. A recent pediatric office survey, however, indicates that up to 15% of healthy children and adolescents may still have symptoms of reflux, including heartburn and regurgitation. Infants and children with serious developmental and physical handicaps, who spend long periods of time in the supine position, appear to be at a high risk for GER.

Children who are unable to swallow normally also are at a higher risk for GER because they are unable to clear the esophagus as efficiently. Children with injury to the brain from infection, inherited metabolic disease, tumors and other causes are at higher risk for reflux.

How does it cause disease 

Most individuals with GER are healthy, and the symptoms are more of an annoyance than a true threat to health. However, the presence of acid material in the esophagus is associated with symptoms that may be more serious:

  1. An infant with GER may experience excessive spitting and vomiting to the point that he or she becomes dehydrated or fails to gain weight.
  2. Constant bathing of the esophagus with acid stomach juice may cause a breakdown of the lining of the esophagus (esophagitis). This may cause pain with further episodes of reflux. Bleeding from the damaged esophagus may occur and may cause anemia. After years of acid damage, the esophageal lining may become more at risk for malignancy. The pre-malignant changes in the esophagus are known as Barrett's esophagus. This is an extremely rare occurrence in the pediatric age group.
  3. Patients who regurgitate are at an increased risk of aspirating stomach contents into the lungs. Aspiration of a large amount of stomach content may cause "aspiration pneumonia." There is data to support the association of untreated GER with asthma. There is widespread concern that GER may cause unexplained breath stoppage (apnea) in infants or even SIDS sudden infant death syndrome). This data is very speculative; in particular, there has not been any reliable data linking SIDS to untreated GER. 
  4. An occasional infant with "colic," who spends many hours per day fretting and crying, may respond to acid blockers. This child may have GER.

What are the common findings?

The most common symptom of GER in young infants is effortless regurgitation. Other symptoms in young children include failure to thrive, food refusal, colicky crying, respiratory disease, and anemia. Young infants with GER also may have constipation. Adults and older children may complain of heartburn, but many pediatric patients just complain of a bellyache.

Stresses, such as intercurrent illness, vigorous laughing or crying, or strenuous physical activities that increase the pressure on the abdomen (e.g., swimming, weight lifting, or long-distance running), will increase the symptoms of GER. Emotional stress makes most chronic diseases less easy to tolerate. GER is no exception. However, emotional stress is not a recognized cause of GER.

How is gastroesophageal reflux diagnosed?

There are several tests to diagnose GER. In most cases, especially in healthy infants whose major symptom is frequent spitting, the diagnosis is based upon the typical nature of the symptoms. Sometimes, further testing may be necessary in patients: 

  1. An x-ray of the esophagus and the stomach will indicate whether there is an obstruction of the esophagus, the stomach, or the intestines causing the symptoms. Seeing reflux of barium during an x-ray is fairly common, and it does not prove a diagnosis of GER.
  2. Monitoring the esophagus with a pH probe (an acid sensor) during a full day will indicate how frequently acid reflux events are occurring. There are reliable standards that define the normal amount of acid reflux. Furthermore, by keeping a diary during the study, it is possible to link the symptoms with the episodes of reflux. This test requires that a thin flexible wire, with the acid sensor at the tip, be passed down the esophagus via the nose. Some children, especially toddlers, do not tolerate this procedure well. 
  3. Looking at the esophagus with a scope can help to evaluate the acid damage. It also can look into the possibility of an infection, an obstruction, or an allergy that may look like acid reflux. 

How is gastroesophageal reflux treated?

In healthy infants, GER is not a major health hazard, and it tends to improve with time. Therefore, physicians try not to use too many diagnostic tests and complicated treatments. Often, some simple changes in feeding technique are helpful. Thickening the baby's bottle with rice cereal (two to three teaspoons per ounce of formula) often helps reduce spitting. Some anti-reflux formulas already have a thickening agent added. Keeping the infant upright for as long as possible after feeding may help.

It is recommended that the infant sleep in the right lateral position, rather than flat on the back to assist in emptying the stomach. In older children, elevating the head of the bed, from four to eight inches by inserting bricks under the head posts, is helpful. Avoiding eating or drinking for two hours prior to bed is recommended for older children. Avoiding large meals, even in young infants, is helpful. Treating constipation, if it is present, often is associated with improvement. Older children should avoid caffeine, carbonated beverages, alcohol, and high fat meals.

In some patients with GER, medications of two types are used 

    1. Acid blockers are a mainstay of therapy for patients with significant pain. Infants may be safely treated with zantac and tagamet. Liquid antacids are helpful for immediate relief of heartburn and pain, but, sometimes, they are not acceptable in infants and children because of their taste. There is limited experience with the newer, more powerful acid blockers known as proton pump inhibitors. They appear to be safe in children at least for short term use. They are not available in liquid preparations as yet.
    1. Prokinetic agents improve gastric emptying, increase the strength of esophageal muscles , and increase the resting pressure of the lower esophageal sphincter muscle. These effects seem to help some patients with GER, especially patients with asthma. Studies of healthy infants with recurrent spitting have shown that the prokinetic agents are no better than a placebo in controlling symptoms. There are some rare, but serious, cardiac side effects of the most commonly prescribed prokinetic agent-Prepulsid. 

These side effects are more likely to occur in patients receiving large doses; in very sick, hospitalized children; or in very premature infants. Risk of cardiac side effects is increased by the simultaneous use of other medications, including erythromycin and its related compounds.

Sometimes, medical therapy of GER is disappointing. There may only be partial control of the symptoms. There are no medications that permanently get rid of all symptoms. Many young infants get better spontaneously at about 12 to 14 months of age, often in association with learning how to walk. In children over 12 to 14 months who still have GER, the symptoms tend to recur when the medications are stopped, just as they do in adults.

In a few cases, the complications of GER are severe, and surgical treatment is recommended. The surgical procedure performed in most cases is a "fundoplication." In this procedure, the surgeon takes a tuck in the upper part of the stomach (the fundus) just below the junction of the stomach and the esophagus. This "plication" of the fundus effectively prevents the stomach contents from flowing backward into the esophagus.

 

Links to other information?

The American Pseudo-obstruction and Hirschsprung's Disease Society, Inc. (APHS), has up-to-date information about GER. The information is available in English and in Spanish.

Their address is: P.O. Box 772, Medford, MA 02155. Their fax number is: 617-396-6868. Their e-mail address is: aphs@mail.tiac.net. Their Web site is: http://www.tiac.net/users/aphs.

References

Nelson SP, Chen EH, Syniar GM, Christoffel KK. One-year follow-up of symptoms of gastroesophageal reflux during infancy. Pediatr 1998;102:E67.

Orenstein SR. Gastroesophageal reflux. Pediatri in Rev 1999;20:24.

Zeiter DK, Hyams JS. Gastroesophageal reflux: pathogenesis, diagnosis and treatment. All Asth Proc 1999;20:45.

About the Author

Dr. Sondheimer received her undergraduate degree at Swarthmore College. She completed her medical degree at Columbia College of Physicians and Surgeons, with a pediatric residency at the University of Colorado Health Science Center, followed by a pediatric gastroenterology fellowship at the Hospital for Sick Children in Toronto. For nine years, she served as Chief of Pediatric Gastroenterology at SUNY Syracuse.

Since 1985, she has been Professor of Pediatrics and Chief of Pediatric Gastroenterology, Hepatology and Nutrition at the University of Colorado Health Sciences Center and the Children's Hospital of Denver. Her major clinical and research interest is in gastroesophageal reflux in infancy and its associated causes and therapy; and in problems of infants with short bowel syndrome.

Copyright 2012 Judith M. Sondheimer, M.D., All Rights Reserved

Gastroesophageal Reflux 
 
 
Giardiasis 
 
 
Hand Foot and Mouth 

Hand, foot, and mouth disease is a common viral illness that usually affects infants and children younger than 5 years old. However, it can sometimes occur in adults. Symptoms of hand, foot, and mouth disease include fever, blister-like sores in the mouth (herpangina), and a skin rash.

Hand, foot, and mouth disease is caused by viruses that belong to the Enterovirus genus (group). This group of viruses includes polioviruses, coxsackieviruses, echoviruses, and enteroviruses.

  • Coxsackievirus A16 is the most common cause of hand, foot, and mouth disease in the United States, but other coxsackieviruses have been associated with the illness.
  • Enterovirus 71 has also been associated with hand, foot, and mouth disease and outbreaks of this disease.

Hand, foot, and mouth disease is often confused with foot-and-mouth disease (also called hoof-and-mouth disease), a disease of cattle, sheep, and swine. However, the two diseases are caused by different viruses and are not related. Humans do not get the animal disease, and animals do not get the human disease. For more information, see the U.S. Department of Agriculture National Agricultural Library, Foot-and-Mouth Disease.

Head Lice 

Lice are parasitic insects that can be found on people's heads, and bodies, including the pubic area. Human lice survive by feeding on human blood. Lice found on each area of the body are different from each other. The three types of lice that live on humans are:

  • Pediculus humanus capitis (head louse),
  • Pediculus humanus corporis (body louse, clothes louse), and
  • Pthirus pubis ("crab" louse, pubic louse).

Only the body louse is known to spread disease.

Lice infestations (pediculosis and pthiriasis) are spread most commonly by close person-to-person contact. Dogs, cats, and other pets do not play a role in the transmission of human lice. Lice move by crawling; they cannot hop or fly. Both over-the-counter and prescription medications are available for treatment of lice infestations.

Headache Related to Eye Problems 

What is a headache?

Commonly described, a headache is pain in the head. Generally, a headache is not dangerous; however, it can be a symptom of an underlying ocular problem or a serious neurological problem.

What causes a headache related to the eye?

The following conditions related to the eye may cause a headache:

  • Convergence insufficiency: Difficulty converging both eyes simultaneously to focus on reading.

     

  • Accommodative insufficiency: Difficulty focusing one eye at a time on reading, thereby requiring reading glasses.

     

  • Migraine: Periodic attacks of a vascular headache.

     

  • Strabismus: Any misalignment of the eyes.

     

  • Refractive errors: Any need for glasses, for example, nearsighted (myopic), farsighted (hyperopic), or astigmatism.

     

  • Increased intracranial pressure: Increased pressure around the brain caused by a neurological condition.

     

  • Special conditions (for example, albinism or nystagmus): Most commonly, these conditions lead to focusing problems.

Typically, when a child complains of a headache to a pediatrician that may be attributed to eye fatigue and/or eyestrain, the child is referred to a pediatric ophthalmologist, a doctor who specializes in eye care and surgery for children. With the pediatrician, the pediatric ophthalmologist helps to diagnose and treat the child.

Who gets a headache?

Children often complain of headaches. Most commonly, these children are aged from 2 years to 19 years, with an average age of 10 years. Migraine headaches occur in 2.7% of children by age 7 and in 10.9% of children by age 14; onset in children by age 4 is not uncommon. Headaches caused by convergence or accommodative insufficiency usually do not occur until school age and often not until third or fourth grade when the reading print becomes smaller and it takes a longer time to finish assignments.

How does it cause disease?

A headache is a symptom of a problem, not a disease in its own right. The conditions listed above can be ocular causes of headaches. Headache itself does not cause medical damage, but one of the above listed conditions may cause it.

What are the common findings?

Convergence Insufficiency

Convergence insufficiency usually occurs in the school-aged child who complains of a chronic headache, typically for several months. The child may have difficulty with learning to read; in particular, the child may hold reading material close to the face in an attempt to overcome the blurry vision. This process usually overtaxes already weak convergence amplitudes, which are a measure of a person's ability to focus both eyes simultaneously on a reading target. The problem may occur several times a week, if not daily, and may occur in school or with homework, with relief on weekends or vacations. The child does not complain of headaches that awaken the child from sleep or of headaches that occur upon awakening in the morning. Nausea and vomiting do not occur with this condition. The child may complain of double vision or may be seen closing or covering one eye, presumably to avoid double vision.

Accommodative Insufficiency

The signs and symptoms of this condition are exactly the same as convergence insufficiency. The child may complain of blurry vision or may simply complain of headache with or after reading. Sometimes, accommodative spasm may be the diagnosis. In this situation, the child becomes focused excessively at near, actually locking the eyes in this focused position. Blurry vision occurs when the eyes are raised to look in the distance.

Migraine

Migraine is a common form of headache in children. Because of the frequently associated visual disturbances, children with migraine often are referred to a pediatric ophthalmologist. Migraine is classified as classic migraine, or migraine with aura; common migraine, or migraine without aura; and complicated migraine.

Migraine with Aura

Migraine with aura begins with the appearance of focal neurologic symptoms, such as numbness in a limb or facial paralysis on one side. Typically, visual symptoms last from 4 to 60 minutes (not seconds or days). Classically described, these symptoms are jagged lines of light surrounding a central blind spot that expand to the peripheral visual field. A child may describe visual symptoms as colorful, bright, flickering, turning, and moving. Some children may describe a kaleidoscope-like effect. Younger children who may not be able to describe these findings should be encouraged to draw it.

Migraine auras generally are followed by an intense, pounding headache located on one side of the head that lasts from two to four hours. The child typically will seek rest, without encouragement, in a quiet, dark room.

Migraine Without Aura

This condition is not associated with preceding visual symptoms. Instead, poorly defined symptoms, generally characterized by behavioral or gastrointestinal disturbances, precede the headache attack by hours to days. The headache begins on one side of the head but often spreads to the whole head, typically lasting hours to several days. Nausea and vomiting, photophobia (avoiding light), and phonophobia (avoiding noise or even sound) are more frequent in this type of migraine than in migraine with aura.

Complicated Migraine

This condition is associated with other neurologic phenomenon, including the ophthalmoplegic migraine, where the patient is unable to move an eye from side to side. Such a condition can occur in children, and it is characterized by periodic episodes of ophthalmoplegia, beginning at the peak of the headache and involving all functions of the oculomotor nerve. The headache usually occurs on the same side and is located around the orbit of the eye. The weakness may last for several weeks after the resolution of the headache.

An unusual form of complicated migraine is the Alice in Wonderland syndrome. Alterations in time and body image, as well as visual distortions, such as shrinking, enlargement, inversion, and elongation, characterize this syndrome.

Strabismus

Strabismus is defined as misalignment of the eyes. With this condition, the eyes can cross (esotropia), turn out (exotropia), or undergo vertical deviation (hypertropia). Any strabismus may cause headaches, with the same signs and symptoms as convergence insufficiency; however, strabismus diagnosed by the ophthalmologist differentiates the two conditions. Frequently, the parents may notice that the child covers or squints one eye with either reading or distance activity or both. Presumably, this action occurs because the child is attempting to avoid having double vision. A history of head trauma or other specific inciting event may result in nerve palsy of one of the nerves (i.e., cranial nerves III, IV, and VI) that move the eye muscles.

Refractive Errors

Refractive errors are the optical condition of the eyes that cause blurry vision, which clears by wearing glasses. Astigmatism and farsightedness are the two refractive errors that may cause a child to experience focusing problems, leading to fatigue and then headache. Astigmatism is when the front surface of the eye is shaped less like a sphere and more like an egg when one meridian is distorted. Farsightedness (hyperopia) is the optical condition when the eye is too short for the focusing system, thereby forcing the patient to excessively focus the lens of the eye (accommodate) to bring images to focus on the retina of the eye. The child often complains of headaches on school days or after long periods of reading when focusing effort has been at a maximum; no headaches occur when the child is not reading. A child with significant astigmatic error may hold reading material too close to the face simply because the words look blurry. This action, in turn, demands that the child accommodate more and converge more to be able to read. If the child holds reading material too close for too long, even normal accommodative and convergence amplitudes are inadequate to sustain long periods of reading.

Increased Intracranial Pressure

A child experiencing a headache that is caused by a brain tumor is quite significant. Classic findings include headaches that awaken the child at night, nausea and vomiting with the headache, and frequently accelerating symptoms over a relatively short time. Recurring morning headaches may be significant; however, this finding also may be related to sinus disease. Additionally, the child may complain of double vision (diplopia), jiggling vision (oscillopsia), or blurry vision. Pseudotumor cerebri is elevated pressure in the head that is not associated with an anatomic cause, such as a brain tumor or hydrocephalus. It occurs in children with prior head trauma, in children who are taking Accutane for acne, or in children who are taking prednisone, for example as part of a chemotherapy regimen. In some teenagers, this condition may occur without any reason.

Special Conditions

A child may complain of headaches that result from an unusual diagnosis, such as albinism or nystagmus. Albinism is a specific ocular disorder caused by decreased body pigment in the skin and in the eye, where vision is decreased because the retina has a deficiency of cells. Nystagmus, which is best characterized as " jiggling eyes," results because the vision is poor or because of a primary motor instability that is congenital in nature. Nystagmus also can be caused by other entities.

The history is especially important in assessing whether the headaches occur with reading or other near effort. A child with albinism complaining of headaches may experience eyestrain by holding reading material close to the face, because of the poor vision. A child with nystagmus of any cause may hold reading material close to the face because it dampens the nystagmus (reduces the jiggling) and enlarges the print.

How is a headache diagnosed?

To determine the cause of a headache relating to each of the above listed conditions, a history of the circumstances surrounding the headache and associated symptoms, a physical examination for neurological abnormalities, and an ocular examination should all be performed. The history is very important from both the parents and the child. The time course of the headache should be recorded. The frequency and the circumstances in which the headache occurs also may be important; for example, a headache may occur in school after the child reads for 15 minutes.

Associated symptoms should be explored. The pediatric ophthalmologist should be informed of other physicians who have examined the child; other tests that have been performed; other medical problems of the child; and other signs or symptoms observed by the parents, such as abnormal head positions, closing one eye, vomiting, redness, or swelling.

The eye examination is important. The pediatric ophthalmologist will check the child's visual acuity (how the child reads the eye chart) at distance and near, with one eye at a time (monocular) and with both eyes simultaneously (binocular). The child's eye alignment will be recorded in all positions of gaze (looking in every direction) and with left and right head tilt. Accommodative and convergence amplitudes will be measured, and the refractive error will be determined frequently after using dilating drops. The pediatric ophthalmologist will perform a slit lamp examination and a funduscopic examination, with close observation of the optic nerve, examining it for evidence of increased intracranial pressure.

Further diagnostic testing generally is not necessary. However, in the case of complicated migraine, glucose tolerance testing to rule out diabetes or neuroimaging (a CT scan or MRI scan of the head) to rule out serious intracranial pathology may be required. With other conditions (for example, strabismus or increased intracranial pressure), neurological testing, including neuroimaging, may be required.

How is a headache treated?

Convergence Insufficiency

To treat this condition, the pediatric ophthalmologist may prescribe a trial of patching with reading. The patch overcomes any strain induced by attempting to use the eyes together. If reading improves or if the headaches decline in frequency, magnitude, or duration with an eye patch, then the eyestrain induced by the effort to focus is being relieved.

Treatment for this condition is aimed at avoiding the problem or increasing reduced convergence amplitudes. If the child holds reading material too close to the face, then the reduced convergence amplitudes will cause eye fatigue/headaches in a shorter time frame. Therefore, holding reading material further from the face often is helpful. Exercises can be done to improve reduced convergence amplitudes. Convergence amplitudes are measured using a prism bar. When the amplitudes fall well below the normal range, exercises should be done. The exercises normalize reduced amplitudes. Relieving convergence insufficiency is the single most useful application of eye exercises.

Parents can begin this exercise with the aid of an orthoptist, who can train and instruct both the parents and the child. The parents should record feedback from this exercise. Two sessions of exercises, each lasting six to eight weeks, usually is recommended. The exercise can be performed at home, 15 minutes per day, with the supervision of an orthoptist once a month. The child should not have to enroll for a year of vision therapy. The end point of treatment for this condition is normalization of convergence amplitudes and/or relief of symptoms.

Accommodative Insufficiency

Measuring accommodative amplitudes is part of the eye examination. The near point of accommodation can be excessively recessed. Reading glasses are used to move the near point of accommodation close to the face. To treat this condition, it is recommended that the parents buy an inexpensive pair of over-the-counter reading glasses for the child to wear when reading. The headaches may resolve by either the placebo effect of the glasses or true accommodative insufficiency. In either case, the parent may choose to have a formal pair of bifocal glasses prescribed by the pediatric ophthalmologist.

Migraine

The best treatment for migraine includes reassurance, avoidance of precipitating factors, abortive therapy, and prophylactic treatment. Abortive therapy includes rest with or without the use of acetaminophen, anti-inflammatory drugs, or antiemetics. Prophylactic treatment, including beta-blockers, calcium channel blockers, or antidepressants, may be indicated for frequent, incapacitating headaches.

Strabismus

Treatment is directed at alleviating strabismus with glasses (with or without a bifocal), prism glasses, occlusion (patching the eye), or surgery. When the patient has accommodative esotropia, a hyperopic glasses prescription will alleviate the crossing of the eyes and the headaches. Prism glasses are used occasionally to optically align the eyes for small amounts of strabismus. Surgery to realign the eyes is ultimately required in numerous strabismus conditions. The mechanical realignment by moving the muscles that move the eyes is often the only treatment to relieve double vision.

Refractive Errors

For a child who is farsighted (hyperopic) or nearsighted (myopic) or who has astigmatism, glasses are required. More complicated combinations of hyperopic, myopic, astigmatic, or anisometropic refractive error require formal glasses prescriptions from a pediatric ophthalmologist. Bifocal glasses rarely are needed outside of accommodative insufficiency or high accommodative convergence/accommodation ratio.

Increased Intracranial Pressure

For the conditions related to increased intracranial pressure, such as brain tumors or hydrocephalus, neurosurgical intervention is the ultimate treatment. Follow-up care with a pediatric ophthalmologist is recommended to ensure that the optic nerve returns to its normal appearance. Additionally, computerized visual field examinations are beneficial and should be performed on a periodic basis. Any ongoing loss of visual field indicates that the intracranial pressure is not being controlled; in this case, intracranial pressure monitoring is indicated.

Special Conditions

For the child with special conditions, such as albinism and nystagmus, strong reading glasses may relieve this relative accommodative insufficieny.

What are the complications?

In the case of increased intracranial pressure, the child may continue to complain of headaches even after the appropriate treatments have been performed. Failure to control the pressure can lead to ongoing optic nerve damage. Ultimately, the child can become blind if the intracranial pressure is not controlled or if the optic nerve is not protected.

How is a headache prevented?

Routine eye examinations with a pediatric ophthalmologist are recommended to ensure that any significant eye abnormalities are diagnosed and treated appropriately.

To prevent migraine headaches, such precipitating factors as stress, chocolate, nitrates, certain cheeses, and monosodium glutamate (flavor enhancer) should be avoided. Additionally, in girls, oral contraceptives may worsen migraine headaches.

References

Honig PJ, Charney EB. Children with brain tumor headaches. Distinguishing features. Am J Dis Child. 1982 Feb;136(2):121-4.

Hupp SL, Kline LB, Corbett JJ. Visual disturbances of migraine. Surv Ophthalmol 1989 Jan-Feb;33(4):221-36.

King RA. Common ocular signs and symptoms in childhood. Pediatr Clin North Am 1993 Aug;40(4):753-66.

Mapstone T. Brain tumors in children. In: Tomsak RT, ed. Pediatric Neuro-ophthalmology. Newton: Butterworth-Heinemann Medical; 1995:79.

McManaway JW. Management of common pediatric neuro-ophthalmology problems. In: Wright KW, ed. Pediatric Ophthalmology and Strabismus. St. Louis: Mosby-Year Book; l995:63.

Moore A. Hydrocephalus. In: Taylor D, ed. Pediatric Ophthalmology. London: Blackwell Scientific; 1990:499.

Nelhaus G, Stumpf DA, Moe PG. Neurologic and muscular disorders. In: Kempe CH, Silver HK, O'Brien D, eds. Current Pediatric Diagnosis and Treatment. Los Altos: Lange Medical Publishers; 1984:653.

Troost BT. Migraine and other headache. In: Duane TD, Jaeger EA, eds. Clinical Ophthalmology. Philadelphia: Harper and Row; 1997.

About the Author

Dr. King graduated from the United States Air Force Academy in 1972, with a Bachelor of Science degree. After spending 5 years in the Air Force, he went to medical school at the University of Colorado, graduating in 1981. He completed ophthalmology residency training at the University of Colorado in 1985, followed by a pediatric ophthalmology fellowship at Wills Eye Hospital in Philadelphia in 1986. Since then he has been in private practice in Denver, specializing in pediatric ophthalmology and adult strabismus.

He has been involved in resident training at The Children's Hospital of Denver, and with other resident training programs as well. Past positions include co-director of pediatric ophthalmology at the Children's Hospital in Denver, President of the Colorado Ophthalmological Society (now the Colorado Society of Eye Physicians and Surgeons), medical board member, and co-medical director of Anchor Center for Blind Children. He has been a regular contributor at the National Symposium for Nurse Practitioners, most recently chairing a symposium on the pediatric fundoscopic exam in July 2001. He has authored numerous articles in the field of pediatric ophthalmology.

Dr. King is married. He and his wife Carla have 2 children, Eric age 17 and Brian age 10.

Copyright 2012 Robert A. King, M.D., All Rights Reserved

Hemangioma 

What is a hemangioma?

A hemangioma is a benign tumor of the blood vessels ("capillary endothelium"). Some hemangiomas occur as birthmarks, often spontaneously improving.

Who gets hemangiomas?

Hemangiomas are a very common benign tumor of infancy. Hemangiomas occur in up to 10% of the population, most commonly in females and in premature infants.

How do hemangiomas cause disease?

Because they are tumors, hemangiomas have a mass effect, meaning they take up space or room, which is caused by the growth of the tumor.

What are the common findings of hemangiomas?

Only 20% of hemangiomas are present at birth. The other 80% occur during the first two months of life, usually within the first month. They appear as white-gray blue flat spots, swollen "spider veins" (telangiectasias), or raised bumps. Then, they undergo a rapid growth phase, lasting from six to nine months, in which they grow faster than the child's rate of growth. After this time, the growth of the hemangioma slows and approximates the growth rate of the child. The stable growth phase lasts until 12 to 18 months of age at which time the hemangioma begins to undergo "involution." During the involution phase, the tumor shrinks on its own, without the need for treatment. Maximum shrinkage occurs in 50% of children by age 5, in 70% of children by age 7, and in 90% of children by age 9.

Parents should know that hemangiomas do not always completely disappear; in some cases, the affected skin does not return to its normal appearance.

Some hemangiomas leave recognizable marks following shrinkage of the tumor. These include decreased skin color; spider veins; excess lax skin; fibrous fatty deposits; and scarring, if the skin has broken down over the hemangioma.

Hemangiomas can appear as three different forms. The first type is the superficial bright red form, formerly known as the strawberry mark. The second type is the deep blue nodule, formerly known as a cavernous hemangioma. The third type is a combination of the superficial and the deep forms, which is called a mixed hemangioma. Commonly, the terms "superficial," "deep," and "mixed" are used to describe the three different types of hemangiomas.

How are hemangiomas diagnosed?

Hemangiomas usually are diagnosed based on an examination and the history of the lesion. Occasionally, magnetic resonance imaging is performed to determine the depth of involvement of the tumor; however, this procedure is rarely necessary or helpful.

What are the complications of hemangiomas?

Most hemangiomas are uncomplicated and do not require treatment. Complications of hemangiomas include ulceration (a breakdown of the overlying skin), infection, interference with a vital function, and, even, high output cardiac failure. Initially, the Kasabach-Merritt syndrome, which is a bleeding disorder, was thought to occur with hemangiomas; however, now, it is thought to occur with hemangioendotheliomas, which are a much less common and more aggressive tumor. Ulceration is the most common complication of hemangiomas. Ulcerated hemangiomas occur most commonly on the lip and in the diaper areas. If a lesion is ulcerated, it is at risk for infection. Staphylococcus aureus is the most common bacteria in infected hemangiomas. Vision, breathing, eating, urination, and bowel movements may all be obstructed by large, rapidly growing hemangiomas.

How are hemangiomas treated?

Most hemangiomas do not require treatment. Ulcerated hemangiomas are best treated with a specific type of laser. This leads to rapid healing of the open area. Infection is treated with specific antibiotics for Staphylococcus aureus. Large, rapidly growing hemangiomas, or hemangiomas that interfere with a vital function, are treated with systemic therapy. (Systemic therapy is treatment that affects the whole body, as opposed to localized treatment, and can be given either by mouth or intravenous injection.) Prednisone is the initial treatment of choice. It usually is given for two weeks. If after two weeks of therapy the tumor growth has been slowed, treatment is then tapered over the next four weeks. If there is no initial effect of therapy, the dose of prednisone is maintained for another two weeks. The patient should be seen every two weeks during therapy. Occasionally, after therapy is stopped, there will be some rebound growth of the tumor. If this growth is substantial, therapy should be restarted. Interferon-alfa also has been used to treat hemangiomas. The use of interferon-alfa should be reserved for hemangiomas that do not respond to prednisone therapy.

What research is being performed?

The research most applicable to hemangiomas is being performed in the area of inhibiting the formation of new blood vessels (anti-angiogenesis). Since hemangiomas are vascular tumors, any therapy that inhibits blood vessel formations should impede hemangioma growth. At this time, agents that inhibit blood vessel formation have not yet been used for hemangioma therapy.

Are there links to other information?

A support group for families with children with hemangiomas is available at: The National Organization of Vascular Anomalies, P.O. Box 0358, Findlay, OH 45839-0358, phone number: (419) 425-1593, e-mail: hemangnews@msn.com and on the web at www.novanews.org.

References

Rasmussen JE. Vascular birthmarks in children. Dermatology Nursing 10:169-177, 1998.

Frieden IJ. Which hemangiomas to treat-and how? Arch Dermatol 133:1593-1595, 1997.

Morelli JG. Hemangiomas and vascular malformations. Pediatric Annals 25:91-96, 1996.

About the Author

Joseph received his undergraduate degree from the University of Pennsylvania, graduating Summa cum Laude with honors in biophysics. He completed his medical school training in 1981 from the Harvard University School of Medicine.

He is board certified in pediatrics and dermatology and completed his residencies in the same specialties. Joseph is a Pediatric Dermatologist with major interest in birthmarks and vascular lesions.

He spends most of his free time coaching Little League Baseball and Midget Football!

Copyright 2012 Joseph Morelli, M.D., All Rights Reserved

Hepatitis A 

What is hepatitis?

The term "hepatitis" is used to describe inflammation, swelling, or soreness of the liver. Hepatitis can have many different causes, including the hepatitis A, B, and C viruses; the delta and hepatitis E viruses; the Epstein-Barr virus (the mono virus); the cytomegalovirus (CMV); the herpes simplex virus; and varicella (chicken pox).

Other causes of hepatitis include toxins, such as drugs or alcohol. More rarely, autoimmune diseases, bacterial infections, fungal infections, and parasitic infections can cause hepatitis. The three most common causes of hepatitis are the hepatitis A, B, and C viruses.

What is hepatits A?

The hepatitis A virus (an RNA virus) causes hepatitis A. This virus infects the liver and causes liver injury. Hepatitis A is the most common cause of acute viral hepatitis in the world.

Who gets hepatitis A?

Hepatitis A commonly is spread from person-to-person by contact with a stool from an infected person, or from water or food that has been contaminated by infected stool. Hepatitis A also can be found in shellfish from certain waters where raw sewage may drain. It often can pass from caregivers to children or adults in settings where there is close contact.

Most commonly, adults are exposed in small epidemics due to contaminated food or water sources. However, in 40% of people, no known risk factor can be identified. In the United States, approximately 10% to 20% of children have been exposed to hepatitis A by five years of age. Most of these children do not have symptoms when infected. In developing countries, the hepatitis A infection is very common in children (near 100%).

How does it cause disease?

Hepatitis A generally is ingested in contaminated food or water. It is absorbed by the body, and then is taken into the liver cells. Following an incubation period of 15 to 50 days (average of 30 days), the liver cells are injured during the process of the body trying to eliminate the virus.

What are the common findings?

The incubation period for hepatitis A is about four weeks (i.e., after being exposed to the virus, a patient will not have any symptoms for about four weeks). Then, the patient usually will have flu-like symptoms, including malaise, vomiting, diarrhea, and fatigue. Jaundice (yellow eyes) often develops as the flu-like symptoms lessen; however, many times, particularly in children, jaundice will not be apparent. Liver blood tests, particularly AST and ALT, are abnormal.

After a period of illness, from one to four weeks, the jaundice will clear, the liver blood tests will normalize, and almost all patients will recover. Rarely, patients can have a relapse of jaundice for over six months. Very rarely, hepatitis A can lead to liver failure (less than 1 out of 10,000 cases).

How is hepatitis A diagnosed?

Hepatitis A can be diagnosed by a blood test, which looks for an antibody (anti-hepatitis A IgM) that is produced to the virus. If a patient has abnormal liver blood tests (e.g., bilirubin, AST, or ALT), a physician will suspect hepatitis A.

How is hepatitis A treated?

No medications have been shown to be effective in treating hepatitis A. In fact, most individuals recover from it without any specific treatment. In patients who are deeply jaundiced, a low-fat diet may reduce diarrhea. A Vitamin K supplement may help reduce the risk of bleeding in patients who are jaundiced for a long period of time. In the rare case of liver failure, a liver transplant may be the only treatment option.

What are the complications?

The most feared complication is liver failure; however, it very rarely occurs. Other complications, while rare, include pancreatitis, rashes, myocarditis, and relapsing hepatitis for up to six months. Cholestatic hepatitis, with itching as a major symptom, is another rare complication of hepatitis A. It may be treated with corticosteroids.

How can hepatitis A be prevented?

The primary prevention against hepatitis A is good handwashing and sanitation practices. Post-exposure prophylaxis with immunoglobulin has been the standard method of preventing hepatitis after an individual has been exposed to hepatitis A. Immunoglobulin may not be effective if given more than two weeks after an exposure. However, since hepatitis A can be prevented by vaccination with the hepatitis A vaccine, the use of immunoglobulin is declining. Several inactivated hepatitis A vaccines are available. The hepatitis A vaccination is recommended for those individuals (older than two years)

  • who will be traveling to countries where hepatitis A is very prevalent;
  • who have a high exposure risk, such as daycare workers;
  • who have chronic liver disease;
  • who have been exposed to hepatitis A during a community epidemic; or
  • who have clotting factor disorders, and are likely to be treated with factor concentrates.

Other high-risk groups include certain Native American populations where hepatitis A may be very prevalent, laboratory workers handling the virus, sewage workers, health care workers, and individuals who work with primates.

Recent research has suggested that the hepatitis A vaccination early in the course of a hepatitis A epidemic may prevent the development of hepatitis A among individuals who are exposed to the virus. After exposure to the virus, gamma globulin can prevent the development of hepatitis A.

What research is being done?

Current research efforts have resulted in the licensing of two vaccines. Additional work is concentrated on developing a live, attenuated vaccine that would be useful in third-world countries. Ongoing research also is focused on the use of these vaccines as prophylaxis in epidemics and the development of combination vaccines.

Links to other information

For more information on hepatitis A, log on to the following Web sites:

References

Innis BL, Snitbhan R, Kunasol, et al. Protection against hepatitis A by an inactivated vaccine. JAMA 1994;271:1328-34.

Katkov WN. Hepatitis vaccines. Med Clin North Am 1996;80:1189-1200.

Keefe EB, Iwarson S, McMahon BJ, et al. Safety and immunogenicity of hepatitis A vaccine in patients with chronic liver disease. Hepatology 1998;27:881-6.

Lemon SM, Thomas DL. Vaccines to prevent viral hepatitis. N Engl J Med 1997;336:196-204.

Koff RS. Hepatitis A. Lancet 1998;341:1643-9.

About the Author

Dr. Narkewicz graduated from the University of Vermont School of Medicine and completed his training in Pediatrics and Pediatric Gastroenterology at the University of Colorado. He holds the Hewit-Andrews Chair in Pediatric Liver Disease and is Associate Professor of Pediatrics at the University of Colorado and the Medical Director of the Pediatric Liver Center and Liver Transplantation at The Children's Hospital, Denver, Colorado.

Copyright 2012 Michael R. Narkewicz, M.D., All Rights Reserved

Hepatitis A Immunization 
 
 
Hepatitis B  

What is hepatitis?

The term "hepatitis" is used to describe inflammation, swelling, or soreness of the liver. Hepatitis can have many different causes, including the hepatitis A, B, and C viruses; the delta and hepatitis E viruses; the Epstein-Barr virus (the mono virus); the cytomegalovirus (CMV); the herpes simplex virus; and varicella (chicken pox). Other causes of hepatitis include toxins, such as drugs or alcohol.

More rarely, autoimmune diseases, bacterial infections, fungal infections, and parasitic infections can cause hepatitis. The three most common causes of hepatitis are the hepatitis A, B, and C viruses.

What is hepatitis B?

Hepatitis B is a liver disease. The hepatitis B virus (HBV) causes hepatitis B. This virus is a DNA virus that typically is transmitted by exposure to contaminated blood or other body fluids.

What causes hepatitis B?

HBV, the virus that causes hepatitis B, is the most common form of acute and chronic viral hepatitis throughout the world. In 1965, HBV was the first virus discovered to cause hepatitis.

Who gets hepatitis B?

In the United States, there are approximately 150,000 new cases of hepatitis B per year, and an estimated 1 to 1.25 million people have chronic infection with HBV. Hepatitis B primarily is transmitted by exposure to contaminated blood or body fluids. In the United States, HBV is spread by intimate contact with individuals who have HBV (e.g., sexual activity or needle sharing among intravenous drug users). The virus can be transmitted from mothers to their babies at the time of delivery.

In developing countries, this is quite common. In the United States, it still may occur, but usually can be prevented if the caregivers are aware of the mother's HBV status. The virus also may be transmitted through small exposures to blood (e.g., minute cuts, abrasions, sharing of toothbrushes, or contaminated piercing equipment or tattooing equipment). Individuals with a high rate of exposure to infected patients, such as health care workers, also are at risk.

How does it cause disease?

HBV acutely infects the liver. There is an incubation period of 28 to 160 days, with an average of 80 days before symptoms may develop. Most adults develop acute hepatitis due to HBV. The body then develops immunity to the virus, and it is eliminated. Approximately 5% to 10% of adults who develop acute HBV infection go on to develop a chronic infection with HBV (i.e., lasting longer than 6 months).

In children, particularly newborns and children less than 1 year of age, about 75% to 90% will develop a chronic HBV infection. Individuals with chronic HBV infection can develop progressive scarring of their liver due to inflammation and are at increased risk for liver cancer.

What are the common findings?

Many patients (about 50%) with acute hepatitis B infection do not have any symptoms. Those patients who develop acute symptomatic hepatitis have flu-like symptoms, such as fever, malaise, muscle aches, vomiting, diarrhea, and anorexia. Some patients will develop jaundice (yellow eyes), pale stools, and dark urine. These symptoms generally clear over four to six weeks. In most adults, immunity to the virus is developed, and it is eliminated. From 5% to 10% of adults develop chronic HBV infection.

During this phase, they may be without symptoms, or they may have ongoing symptoms that are similar to acute hepatitis; however, the symptoms generally are milder. In children, particularly newborn infants, an acute hepatitis infection usually is without symptoms. Thus, the acute HBV infection generally is silent, and develops into a silent chronic infection in most children under one year of age.

During the acute phase, liver blood tests often are abnormal, particularly AST, ALT, and, less commonly, bilirubin. During a chronic infection, liver blood tests can be normal or abnormal.

How is hepatitis B diagnosed?

HBV is diagnosed by blood tests. These blood tests include:

(a)HBsAg: Hepatitis B surface antigen. This test measures a protein from the virus and indicates that a person is infected with the virus. Persistence of HBsAg for more than six months indicates chronic infection.

(b) Anti-HBs: Antibody to hepatitis B surface antigen. This antibody develops when HBV is cleared from the body, or after the hepatitis B vaccine.

(c) Anti-HBc-IgM. This IgM antibody to the HBV core antigen is present only with an acute infection. IgG develops in any patient who has been infected or is chronically infected.

(d) HBeAg: Hepatitis B e antigen. This measures a protein from the virus, indicating that the virus is replicating (i.e., making a new virus) at a high rate. This often is present early in the course of chronic HBV infection.

(e) Anti-HBe: Antibody to hepatitis B e antigen. This develops when a chronically infected individual begins to build up an immune response to the virus and becomes a chronic carrier of the virus.

How is hepatitis B treated?

There is no treatment for acute HBV, except for supportive care. Liver failure can develop with HBV, and a liver transplant may be required.

Although chronic HBV is difficult to treat, treatments are available. Most patients with chronic HBV have normal liver blood tests and do not require treatment. In general, individuals who receive treatment for chronic HBV show signs of ongoing liver injury by liver blood tests and/or a liver biopsy. The current treatments available include immunomodulatory therapies, such as interferon. This shot is administered 3 times a week for 24 weeks.

Approximately 25% to 30% of children with chronic hepatitis due to HBV will respond to therapy with interferon. Nucleoside analogs, such as Lamivudine, are approved for the treatment of adults, and are currently under study for use in children. A liver transplant may be required for chronic HBV that has progressed to end-stage liver disease.

What are the complications?

Acute HBV can be complicated by a serum sickness like illness, arthritis, or a rash. Other complications associated with acute hepatitis B infection include kidney disease (membranous nephropathy), a rash (e.g., papular acrodermatitis, Gianotti syndrome), and aplastic anemia. Rarely, acute HBV can lead to liver failure, requiring a liver transplant, or even causing death.

Chronic HBV infection is associated with various complications, including liver fibrosis or cirrhosis and liver failure. In patients who have chronic HBV infection, there is an increased risk of developing liver cancer. Kidney disease (membranous nephropathy) also may occur.

How can hepatitis B be prevented?

Avoiding high-risk behaviors can prevent hepatitis B. However, individuals without identified risk factors can acquire HBV.

The hepatitis B vaccine is very effective at protecting fully vaccinated individuals from contracting hepatitis B. It is a series of three shots that is part of the universal vaccination of children in the United States.

The Hepatitis B Immune Globulin (HBIG or NABI�-HB) can prevent hepatitis B after an acute exposure. It is prepared from hyperimmunized donors who have high levels of anti-HBs. This immune globulin is used in individuals with a known blood exposure to an infected individual.

What research is being done?

Active research of hepatitis B is focused on:

  • New treatments for chronic hepatitis B infection
  • The development of newer vaccine strategies
  • The role of HBV in liver cancer
  • Treatments for individuals with chronic hepatitis B infection, but who have normal liver blood tests, and are at a high risk of liver cancer

Links to other information

For more information on hepatitis B, log on to the following Web sites:

References

Sokal EM, Conjeevaram HS, Roberts EA, et al. Interferon alfa therapy for chronic hepatitis B in children: a multinational randomized controlled trial. Gastroenterology 1998;114:988-95.

Chang MH, Chen CJ, Lai MS, et al. Universal hepatitis B vaccination in Taiwan and the incidence of hepatocellular carcinoma in children. N Engl J Med 1997;336:1855-9.

Lee PI, Lee CY, Huang LM, Chang MH. Long-term efficacy of recombinant hepatitis B vaccine and risk of natural infection in infants born to mothers with hepatitis B e antigen. J Pediatr 1995;126:716-21.

Lemon SM, Thomas DL. Vaccines to prevent viral hepatitis. N Engl J Med 1997;336:196-204.

Hoofnagle JH, di Bisceglie AM. The treatment of chronic viral hepatitis. N Engl J Med 1997;336:347-56.

Balistreri WF. Acute and chronic viral hepatitis. In: Suchy FJ, ed. Liver disease in children. St. Louis: Mosby, 1994:460-509.

About the Author

Dr. Narkewicz graduated from the University of Vermont School of Medicine and completed his training in Pediatrics and Pediatric Gastroenterology at the University of Colorado.

He holds the Hewit-Andrews Chair in Pediatric Liver Disease and is Associate Professor of Pediatrics at the University of Colorado and the Medical Director of the Pediatric Liver Center and Liver Transplantation at The Children's Hospital, Denver, Colorado.

Copyright 2012 Michael Narkewicz, M.D., All Rights Reserved

Hepatitis B Immunization 
 
 
Hepatitis C 

What is hepatitis C?

Hepatitis C is an infection of the liver caused by a virus called "hepatitis C virus" (HCV), an RNA virus. Before this virus was identified (in 1989), many cases of hepatitis C infection were simply termed "non-A non-B hepatitis" (NANBH).

How does HCV cause disease?

HCV may damage liver cells directly, or liver cells may get damaged when the body's immune system fights the virus. The immune system often has trouble eliminating the virus because HCV is very sneaky; it constantly changes parts of its protein structure (forming "quasi-species") so that the human immune system cannot fight it effectively. By evading the immune system, HCV causes long-term (chronic) infection of the liver with low-grade liver cell damage (chronic hepatitis).

Who gets hepatitis C?

HCV is spread by infected blood and body fluids. Many cases of hepatitis C are likely from transfusion of contaminated blood products. Intravenous drug use is an important way by which one might acquire HCV infection. High-risk sexual behaviors may lead to transmission of HCV. Vertical transmission of HCV from mother to child during pregnancy or delivery also may occur.

What happens to children with hepatitis C?

Compared to adults, children tend to have a shorter duration of infection. Thus, their disease tends to be milder, and they usually feel fine. However, doctors worry that in time children with hepatitis C infection will develop severe liver damage and scarring. On the other hand, some children seem to have cleared their infection without any treatment. There is still a lot to learn about how this disease affects children.

It turns out that my baby is not infected; what is "passive transfer of antibody"?

During pregnancy, mothers pass their antibodies to their babies. These antibodies are meant to protect the baby until his/her own antibodies can develop. It is expected that maternal antibodies of HCV disappear within the baby's first 18 months of life.

How is hepatitis C diagnosed?

Most people find out they have hepatitis C after blood testing finds that they have antibodies to the virus (anti-HCV), which shows that the immune system has been exposed to the virus. At this point, further testing is done (see What will doctors do for me if I have hepatitis C?).

What will doctors do for me if I have hepatitis C?

Children with hepatitis C infection need to be monitored. Each time your child is seen in a clinic, your child will be asked about how he/she is feeling and be examined. Blood tests are helpful to see how your child's liver is doing. Blood testing also can look for antibodies to the virus (anti-HCV), which reflect the body's exposure to the virus. Testing for the actual virus (HCV RNA) also may be done.

Your doctor may suggest that a liver biopsy be performed; this procedure involves taking a tiny sample of your child's liver so that it may be analyzed under the microscope. The liver biopsy is the most direct way of seeing if there is significant liver damage.

Is there any treatment for hepatitis C?

Interferon-alpha is given by injection regularly for 6 to 12 months to try to cure the infection. In adults, this drug works initially in some patients; however, many patients relapse after the drug is stopped, and the hepatitis C infection comes back. In most patients, treatment with interferon-alpha fails. This drug has side effects that are similar to flu-like symptoms. Patients taking interferon-alpha need to be monitored carefully.

Recently, it has been learned that two drugs are better than one. Ribavirin, combined with interferon-alpha, appears to cure around 30% to 50% of adults with chronic hepatitis C. Ribavirin is taken by mouth once or twice a day. It also needs to be taken for a long time, usually for as long as the interferon-alpha is given. The combination of ribavirin and interferon-alpha is being tested in children.

Decisions to treat HCV infection should be discussed with us. The currently available treatments take a long time and demand a strong commitment. In addition, the success rates are mediocre. Efforts are ongoing to find better combinations of drugs that will be more effective at curing chronic hepatitis C.

What are the complications of hepatitis C?

Although most people do not feel sick (i.e., they are asymptomatic), HCV causes damage to the liver over a long period of time. Chronic hepatitis can lead to scarring of the liver (cirrhosis) and eventually make the liver not function well. The scarring of the liver also has been associated with a higher risk of liver cancer. In North America, chronic hepatitis C is now the number one reason for liver transplantation in adults.

Can I spread HCV to people around me?

Exposure to blood contaminated with HCV is by far the most efficient means of spreading HCV. In contrast, the spread of HCV from casual contact is very unlikely. Transmission of HCV from sexual contact may occur, so precautions are necessary

Knowing that I have hepatitis C, is there anything I should do?

People with hepatitis C infection can get sicker than most people if they get an additional form of hepatitis. Thus, people with chronic hepatitis C should receive vaccination for hepatitis A and B.

Alcohol makes any liver disease worse. It makes chronic hepatitis C much worse. Patients with hepatitis C infection are advised to abstain from alcohol (even "social drinking").

Preventing spread of infection is an important public health issue. The sharing of personal hygiene items, such as razors and toothbrushes, should be avoided. It would be reasonable to beware of spreading HCV infection through sharing of other objects that might have contaminated blood (e.g., needles used in ear or body piercing, tattooing, or nail clippers). Teens who are sexually active should practice responsible and safe sex.

What is being done for prevention of hepatitis C?

Blood products are now screened for HCV by multiple effective methods. The risk of getting hepatitis C from a blood transfusion is very low. Although there is ongoing research to make a vaccine for HCV (which could protect people from getting infected), this work faces such challenges as the HCV quasi-species problem; the constantly changing virus makes it hard to perfect a vaccine.

What research is being done?

Researchers are studying the virus to figure out how it infects cells and lives in them. In doing so, better drugs can be made to kill the virus or to help boost the patient's immune system to fight off HCV. To develop effective prevention and treatment strategies for HCV infection, researchers must know what would happen if the disease was allowed to play itself out, without any treatment. That is, researchers are trying to work out the "natural history" of the chronic hepatitis C infection.

Links to other information

References

Cohen J. The scientific challenge of hepatitis C. Science 1999;285:26-30.

Alter MJ, Kruszon-Moran D, Nainan OV, et al. The prevalence of hepatitis C virus infection in the United States, 1988 through 1994. New Engl J Med 1999;341:556-62.

Cerny A, Chisari FV. Pathogenesis of chronic hepatitis C: immunological features of hepatic injury and viral persistence. Hepatology 1999;30:595-601.

Ahmed A, Keeffe E. Treatment strategies for chronic hepatitis C: update since the 1997 National Institutes of Health Consensus Development Conference. J Gastroenterol Hepatol 1999;14 Suppl:S12-8.

Rosenthal E, Hazani A, Segal D, et al. Lack of transmission of hepatitis C virus in very close family contacts of patients undergoing multitransfusions of thalassemia. J Ped Gastro Nutr 1999;9:101-3.

About the Author

Dr. Yeung obtained her M.D. from the University of Toronto and completed her training in pediatrics at the Hospital for Sick Children in Toronto, Canada. She is currently a research fellow in the Division of Pediatric Gastroenterology and Nutrition at the Hospital for Sick Children. Her research focuses on hepatitis C infection in children.

Dr. Roberts obtained her M.D. from the Johns Hopkins University School of Medicine and trained in hepatology at The Royal Free Hospital under Professor Dame Sheila Sherlock. She is currently a professor of pediatrics, medicine, and pharmacology at the University of Toronto and the Hospital for Sick Children.

Copyright 2012 Latifa T.F. Yeung, M.D., FRCPC, All Rights Reserved

Hib Immunization 

Vaccine

What You Need to Know

Why get vaccinated?

Haemophilus influenzae type b (Hib) disease is a serious disease caused by bacteria.  It usually affects children under 5 years old. It can also affect adults with certain medical conditions.

Your child can get Hib disease by being around other children or adults who may have the bacteria and not know it. The germs spread from person to person. If the germs stay in the child’s nose and throat, the child probably will not get sick. But sometimes the germs spread into the lungs or the bloodstream, and then Hib can cause serious problems. This is called invasive Hib disease.

Before Hib vaccine, Hib disease was the leading cause of bacterial meningitis among children under 5 years old in the United States. Meningitis is an infection of the lining of the brain and spinal cord. It can lead to brain damage and deafness.  Hib disease can also cause:

  • pneumonia
  • severe swelling in the throat, making it hard to breathe
  • infections of the blood, joints, bones, and covering of the heart
  • death

Before Hib vaccine, about 20,000 children in the United States under 5 years old got Hib disease each year, and about 3% - 6% of them died.

Hib vaccine can prevent Hib disease.  Since use of Hib vaccine began, the number of cases of invasive Hib disease has decreased by more than 99%. Many more children would get Hib disease if we stopped vaccinating.

 

Hib vaccine

Several different brands of Hib vaccine are available.  Your child will receive either 3 or 4 doses, depending on which vaccine is used.

Doses of Hib vaccine are usually recommended at these ages:

  • First Dose: 2 months of age
  • Second Dose: 4 months of age
  • Third Dose: 6 months of age (if needed, depending on brand of vaccine)
  • Final/Booster Dose: 12-15 months of age

Hib vaccine may be given at the same time as other vaccines. 

Hib vaccine may be given as part of a combination vaccine.  Combination vaccines are made when two or more types of vaccine are combined together into a single shot, so that one vaccination can protect against more than one disease. 

Children over 5 years old and adults usually do not need Hib vaccine. But it may be recommended for older children or adults with asplenia or sickle cell disease, before surgery to remove the spleen, or following a bone marrow transplant. It may also be recommended for people 5 to 18 years old with HIV. Ask your doctor for details.

Your doctor or the person giving you the vaccine can give you more information.

 

Some people should not get this vaccine

Hib vaccine should not be given to infants younger than 6 weeks of age.

A person who has ever had a life-threatening allergic reaction after a previous dose of Hib vaccine, OR has a severe allergy to any part of this vaccine, should not get Hib vaccine. Tell the person giving the vaccine about any severe allergies.

People who are mildly ill can get Hib vaccine. People who are moderately or severely ill should probably wait until they recover. Talk to your healthcare provider if the person getting the vaccine isn’t feeling well on the day the shot is scheduled.

 

Risks of a vaccine reaction

With any medicine, including vaccines, there is a chance of side effects. These are usually mild and go away on their own. Serious reactions are also possible but are rare.

Most people who get Hib vaccine do not have any problems with it.

Mild Problems following Hib vaccine:

  • redness, warmth, or swelling where the shot was given
  • fever

These problems are uncommon. If they occur, they usually begin soon after the shot and last 2 or 3 days.

Problems that could happen after any vaccine:

Any medication can cause a severe allergic reaction. Such reactions from a vaccine are very rare, estimated at fewer than 1 in a million doses, and would happen within a few minutes to a few hours after the vaccination.

As with any medicine, there is a very remote chance of a vaccine causing a serious injury or death.

Older children, adolescents, and adults might also experience these problems after any vaccine:

  • People sometimes faint after a medical procedure, including vaccination. Sitting or lying down for about 15 minutes can help prevent fainting, and injuries caused by a fall. Tell your doctor if you feel dizzy, or have vision changes or ringing in the ears.
  • Some people get severe pain in the shoulder and have difficulty moving the arm where a shot was given. This happens very rarely.

The safety of vaccines is always being monitored. For more information, visit the vaccine safety site.

 

What if there is a serious reaction?

What should I look for?

  • Look for anything that concerns you, such as signs of a severe allergic reaction, very high fever, or unusual behavior.

Signs of a severe allergic reaction can include hives, swelling of the face and throat, difficulty breathing, a fast heartbeat, dizziness, and weakness. These would usually start a few minutes to a few hours after the vaccination.

What should I do?

  • If you think it is a severe allergic reaction or other emergency that can’t wait, call 9-1-1 and get the person to the nearest hospital. Otherwise, call your doctor.
  • Afterward, the reaction should be reported to the Vaccine Adverse Event Reporting System (VAERS). Your doctor might file this report, or you can do it yourself through the VAERS website, or by calling 1-800-822-7967.

VAERS does not give medical advice.

 

The National Vaccine Injury Compensation Program

The National Vaccine Injury Compensation Program (VICP) is a federal program that was created to compensate people who may have been injured by certain vaccines.

Persons who believe they may have been injured by a vaccine can learn about the program and about filing a claim by calling 1-800-338-2382 or visiting the VICP website. There is a time limit to file a claim for compensation.

 

How can I learn more?

  • Ask your doctor. He or she can give you the vaccine package insert or suggest other sources of information.
  • Call your local or state health department.
  • Contact the Centers for Disease Control and Prevention (CDC):
High Blood Pressure 

What is hypertension?

An elevated blood pressure level in a child is defined as a blood pressure that is above the 90th percentile for age and sex. Although the finding of an elevated blood pressure on physical examination constitutes an abnormal sign, it does not mean that hypertension (i.e., sustained blood pressure elevation) is persistent. Most pediatricians recommend that for a child to be diagnosed with hypertension the blood pressure must be abnormal (above the 95th percentile rank of age and sex) on at least 3 separate examinations over a 6- to 12-month interval (see table). The only exception is if at the time of the initial examination the child has signs and/or symptoms commonly found with severe hypertension (e.g., heart muscle enlargement, headache, dizziness, seizures, eye and vision damage).

Table: Levels of Severe Hypertension (95th Percentile) for Boys and Girls

Boys Girls
Age (years) Systolic BP Diastolic BP Systolic BP Diastolic BP
1 105 59 104 58
6 112 73 115 75
12 124 81 125 82
17 130 85 136 88

What causes hypertension?

Once a child is diagnosed with hypertension, its cause must be determined. The two major types of hypertension are as follows:

  1. Essential hypertension Essential hypertension (i.e., without any identifiable cause) occurs in 50% to 60% of children with hypertension. The majority of these children will be obese.
  2. Secondary hypertension The common causes of secondary hypertension include renal (kidney) disease, cardiovascular (heart and vessel) disease, endocrine (hormone or metabolism) disorders, and other miscellaneous conditions.

How is secondary hypertension diagnosed?

A thorough history and physical examination is essential in evaluating a child with secondary hypertension

In the history, the following significant points should be addressed:

  • Symptoms suggesting associated disease (e.g., unexplained fever - in kidney infection; leg pains with exercise - in coarctation of the aorta [see Coarctation of the Aorta article]; weight loss and tremor - in hyperthyroidism; sweating, night terrors, and palpations - in an adrenal gland tumor)
  • Medications or chemicals that can raise the blood pressure (e.g., birth control pill, steroids, amphetamines)
  • Any history of trauma

The physical examination should include the following:

  • Blood pressure and pulse should be taken in both the upper and the lower extremities. (A difference in pressure and pulse between the arms and the legs is diagnostic of coarctation of the aorta.)
  • A careful abdominal examination should be performed to detect masses (e.g., polycystic kidney disease, where the kidneys are too large because of multiple cysts; tumors) and abnormal pulses (e.g., renal artery stenosis, where the vessels supplying blood to the kidneys are abnormally narrow).
  • A careful examination of the skin should be performed (e.g., cafe-au-lait spots or brownish spots in neurofibromatosis, striae or skin stretch marks, hirsutism or male hair growth pattern of Cushing's syndrome).
  • A thorough eye examination should be performed.

The only routine laboratory tests that should be performed are as follows: urine dipstick, blood electrolytes, blood urea nitrogen, and creatinine. Other laboratory tests should be ordered based on both the history and the physical examination.

How is childhood hypertension treated?

All children with significant, sustained hypertension should be treated. The treatment of hypertension is divided into two major categories: hypertensive crisis and chronic hypertension.

  1. Hypertensive crisis Hypertensive crisis is defined as life-threatening hypertension that is associated with hypertensive encephalopathy (changes in the brain and neurologic function due to the increased blood pressure) and/or acute heart failure. The calcium-channel blockers amlodipine and nifedipine are very effective in treating hypertensive crisis. Other medications used include diazoxide, nitroprusside, and minoxidil. No matter what medication is used, once acute blood pressure reduction is achieved, other medicines need to be added to maintain long-term blood pressure control.
  2. Chronic hypertension The ideal therapy for chronic hypertension is to treat, if possible, the underlying disease that is responsible for the hypertension. If this is not possible, then nonpharmacologic (not using medications) and pharmacologic (using medications) intervention is needed.
    • Nonpharmacologic treatment Dietary management should be the initial form of therapy in all children with hypertension. Weight loss is the treatment of choice for the obese adolescent with essential hypertension. Lowering salt intake also can be helpful. In addition to dietary management, other nonpharmacologic therapies include quitting smoking, not taking oral contraceptive pills and other vasoactive drugs, and avoiding heavy alcohol consumption. Daily physical activity should be encouraged.
    • Pharmacologic treatment In pediatric patients, the first line of antihypertensive medications are angiotensin converting enzyme inhibitors and calcium channel blockers. The most common side effect of angiotensin converting enzyme inhibitors is a chronic cough. If a chronic cough requires the child to stop taking the converting enzyme inhibitor, an alternate therapy is angiotensin receptor antagonists. The most common side effects of calcium channel blockers are a rapid heart rate and fluid retention.

Until recently, diuretics and beta-blockers were the most commonly used drugs to treat childhood hypertension. However, most pediatricians are now reluctant to use them because of evidence suggesting that these agents may adversely affect plasma lipids and insulin sensitivity. Beta-blockers also can cause depression and impair school performance.

Other antihypertensive agents used to treat refractory hypertension include centrally-acting drugs (e.g., Clonidine, Guanabenz), alpha-blockers, and vasodilators (e.g., hydralazine, minoxidil).

What is the goal of hypertension treatment?

The goal of therapy is to keep the child's blood pressure below the 90th percentile for age and sex. Parents must be taught not only to monitor their child's blood pressure at home, but also to monitor for signs of medication-induced side effects.

Successful therapy should not interfere with the child's academic performance, involvement in sports, or interest in social activities. Participation in team sports should be encouraged unless there is clear evidence of heart dysfunction.

Once the child's blood pressure is under good control, the child should be evaluated (at least) on an annual basis to assess cardiac status, physical growth and development, and sexual maturation patterns.

References

Report of the Second Task Force on Blood Pressure Control in Children. Pediatrics 1987;79(1):1-25.

Sinaiko AR. Pharmacologic management of childhood hypertension. Pediatr Clin North Am 1993;40(1):195-212.

Falkner B. Management of hypertensive children and adolescents. In: Izzo JL, Black HR, eds. Hypertension primer: the essentials of high blood pressure. 2nd ed. American Heart Association, 1999:424.

About the Author

Dr. Rocchini received both his bachelor of science degree in chemical engineering and his medical degree from the University of Pittsburgh. He completed his pediatric residency at the University of Minnesota and his pediatric cardiology fellowship at the Children's Hospital of Boston. Dr. Rocchini is currently a professor of pediatrics and serves as director of pediatric cardiology at the University of Michigan. His research interests include interventional cardiac catheterization and obesity-induced hypertension.

Copyright 2012 Albert P. Rocchini, M.D., All Rights Reserved

HIV/AIDS 

What is HIV/AIDS?

Acquired immunodeficiency syndrome (AIDS) is a condition in which the immune system has lost the ability to defend the body against infection and certain cancers. It is caused by infection with human immunodeficiency virus (HIV).

What causes HIV/AIDS?

The cause of AIDS is infection with HIV. HIV is a member of the family of viruses called retroviruses. This type of virus enters human cells and becomes incorporated into the cell's genes (i.e., DNA). Once the infection has occurred, the body cannot rid itself of the virus. The effect of the virus on the immune system leads to AIDS.

Who gets HIV/AIDS?

HIV/AIDS affects people of all ages and racial/ethnic backgrounds. Usually, infants and children acquire the infection from the mother during pregnancy, delivery, or breastfeeding. The most common mode of transmission for teens and adults is sexual contact. Currently, the largest number of HIV-infected people lives in Africa, India, and Southeast Asia. In the United States, homosexual men and injecting drug users have the highest prevalence of infection. However, adolescents and women, particularly those of African-American and Hispanic background, have the highest rates of new infections.

Casual, classroom, or household contact with an HIV-infected person poses no risk. Transmission cannot occur from sharing dishes, towels, or bathroom facilities. Saliva, urine, and stool are not contagious unless there is visible blood in the fluid.

HIV is transmitted through contact with infected semen or cervical secretions. People who have sexual contact with an infected person are at risk of acquiring the infection. The virus can be transmitted by both heterosexual and homosexual contact. Men and women, adults and teenagers can become infected with HIV.

HIV is transmitted from mother to infant during pregnancy, delivery, and breastfeeding. An infected woman who does not receive treatment during pregnancy has a 25% to 30% chance of passing the virus on to her baby. With treatment, the chance of having an infected baby can be reduced to 1%.

HIV is transmitted through contact with infected blood or body fluids contaminated with visible blood. Donated blood is screened for HIV so there is almost no risk of an infection from blood transfusion products. However, people who use injection drugs sometimes share their injection equipment. If an HIV-infected person shares a needle or other injection equipment, the virus can be transmitted to the other people. A health care professional who is exposed to blood from an infected person has a risk of being infected with HIV. This risk is greatest when a contaminated sharp instrument penetrates the skin. There also is a small risk of infection when blood splashes into the eye or the mouth of the worker. There is no risk of infection with blood contact to intact skin (i.e., skin without cuts, scratches, or a rash). Under usual circumstances, there is no risk of transmission of HIV from a health care professional to a patient. However, all people should handle blood and bloody body secretions carefully.

How does HIV cause disease?

HIV infection, without treatment, causes a progressive dysfunction of the immune system. When the immune system is defective, the body cannot defend itself against infections. HIV infects immune cells that are critical components of the immune system, particularly helper T lymphocytes (T4 cells). When the cells are infected with HIV, they do not function normally, and some cells are destroyed.

What are the common findings?

Teens and adults may have symptoms in the first two to six weeks after the initial infection with HIV (acute primary infection). The most common symptoms of the primary infection are fever, fatigue, muscle aches, headache, sore throat, and swollen lymph nodes (glands in the neck, under the arms, and in the groin). These symptoms are not specific to HIV infection since many viral infections cause similar symptoms. Some other symptoms more particular to primary HIV infection are mouth ulcers, a rash, and meningitis. However, even these symptoms do not prove HIV infection because they can occur with other infections. Some people have no symptoms after the acute infection. The symptoms of the primary infection resolve without treatment. Most people do not seek medical attention, and they are not aware that they have acquired HIV.

After the primary infection, most people infected with HIV have no symptoms in the early stages of the disease. For adults and adolescents, progression of the disease usually occurs several years after the primary infection. About 30% of infants infected at birth will have disease progression within 12 to 18 months of life.

When the disease progresses, common first symptoms include enlargement of the lymph nodes, liver, and/or spleen; poor growth; frequent minor infections, such as ear infections and sinusitis; cold sores that do not heal; thrush or diaper rash that persists despite treatment; shingles; night sweats; and recurrent fever. When the disease reaches advanced stages, most patients have weight loss; infections of the lungs, blood stream, bones, joints, intestines, and eyes; and certain cancers. Some people develop neurologic symptoms manifested by developmental delay in children and by memory loss and dementia in teens and adults.

How is HIV/AIDS diagnosed?

The most commonly used diagnostic test for HIV infection detects antibodies to HIV in the blood. The body makes antibodies as a part of the immune defense against infections. If antibodies against HIV are present (a "positive" test), this indicates that the person is infected with HIV. This is why infected people are called "HIV positive."

The antibody test is done in two parts. The first part is called an ELISA. Occasionally, a person will test positive on an ELISA even though they are not HIV infected. Therefore, a positive ELISA test must have a confirmatory test done on the same blood sample showing that the antibodies are truly specific for HIV. A negative ELISA indicates that the person is not infected and usually does not require a follow-up test.

In some patients, antibody tests are not reliable. In this case, tests that directly detect the virus are used. The most commonly used tests detect the virus genetic material (DNA or RNA) or protein (p24 antigen) in the blood. Virus tests are used to diagnose HIV infection in infants born to HIV-infected mothers. Antibody tests on the baby are not reliable until after 18 months of age because all mothers will pass antibodies to their babies, but not all mothers will pass the virus. In order to determine if the infant is infected, tests to detect the virus in the baby's blood are performed. The majority of infected infants will have the virus detected by three to four months of life. Uninfected infants will have negative tests for the virus (even though their antibody test is positive).

Direct virus testing also is used for adults and teenagers who may have been recently exposed to HIV. The virus tests are positive about 10 to 14 days before the antibody tests are positive. Using the direct virus test permits an earlier diagnosis of infection.

How is the HIV infection treated?

Recently, many new medications have been developed to treat HIV infection. These medications are called anti-retroviral drugs, and they inhibit the replication or reproduction of the virus. Effective treatment requires a combination of several different anti-retroviral medications, taken by mouth, one to three times a day. The amount of virus in the blood and the number of helper T cells are monitored closely to determine whether the medications are effective. Although there is no cure for HIV/AIDS, with effective treatment, infected people may live for years without disease progression.

What are the complications?

The complications of HIV infection are primarily related to immune dysfunction. Immune dysfunction leads to infection with other bacteria, viruses, or fungi. Medications can be taken daily or weekly to prevent these infections. In some patients, HIV causes abnormal function of the heart, bone marrow, brain, muscles, intestines, liver, and pancreas.

How is HIV prevented?

The most important method to prevent HIV infection is to avoid exposure by sexual contact. Abstinence is the only certain way to avoid sexual exposure to HIV. The risk of transmission can be greatly reduced by the correct use of condoms during sexual contact. Individuals who do have sexual contact should limit their number of partners and use condoms correctly every time they have sexual contact.

Sharing contaminated needles can transmit HIV. Injection drug users should not share injection equipment. Children should be taught to avoid contact with other people's blood. They also should avoid sharing sharp personal objects (e.g., razors, body-piercing equipment), which may be contaminated by blood and have not been properly sterilized. When caring for a bleeding wound, a thick layer of paper or cloth should be used to reduce the chances of contact with the blood.

Over 95% of infections passed from mother to infant can be prevented if the mother and infant receive treatment during pregnancy, labor, and the first weeks after birth. All women should be offered testing for HIV during pregnancy so they can receive the preventative treatments if they are HIV positive.

What research is being done?

Research on the treatment and prevention of HIV infection is very active. The areas of most intense interest are the development of a vaccine to prevent infection, the development of improved anti-retroviral medications, and studies to understand how the body's immune defenses against HIV infection can be enhanced.

Links to other information

http://www.fxbcenter.org/

Sponsor: The Francois-Xavier Bagnoud Center, University of Medicine and Dentistry of New Jersey, The National Pediatric and Family HIV Resource Center (NPHRC). This Web site includes extensive information about HIV that is related to children and youth.

http://www.kidsconnect.org/porch/

This Web site includes information about HIV that is written at a child's level.

http://hivinsite.ucsf.edu/

This Web site includes information about HIV that is both focused on youth and written in youth-friendly terms.

About the Author

Dr. McFarland is the medical director and co-founder of the Children's Hospital Immunodeficiency Program (CHIP) in Denver, CO. CHIP provides comprehensive health care to infants, children, adolescents, young adults and pregnant women infected or affected by HIV.

Dr. McFarland is a member of the National Institutes of Health sponsored Pediatric AIDS Clinical Trial Group and is active in basic and clinical HIV research. She is board certified in Pediatric Infectious Diseases and a faculty member at the University of Colorado Health Sciences Center.

She received her MD degree from Duke University School of Medicine and her pediatric and subspecialty training from the University of Colorado Health Sciences Center.

Copyright 2012 Elizabeth J. McFarland, M.D., All Rights Reserved

Hyperactivity 

The Facts About ADHD:

Attention-Deficit Hyperactivity Disorder (ADHD) is characterized by inattentive, hyperactive, and impulsive behavior. These problems are often inappropriate and cause difficulty in daily life. ADHD is a "biopsychosocial" disorder. That is, there appear to be strong genetic, biological, life experience, and social factors that contribute to the extent of problems. ADHD affects 3% to 5% of individuals throughout their life. Early identification and proper treatment dramatically reduces the family, educational, behavioral, and psychological problems experienced by individuals with ADHD. It is believed that through accurate diagnosis and treatment, these problems-including school failure and dropout, depression, behavioral disorders, vocational and relationship problems, and substance abuse-can be properly managed or even avoided.

At one time, it was thought that the symptoms of ADHD lessen by adolescence. Research has now found that the majority of individuals with ADHD become adults with a very similar pattern of problems. Adults with ADHD experience problems at work, in the community, and in their families. They also exhibit a greater degree of emotional problems, including depression and anxiety.

Researchers first described the inattentive, hyperactive, and impulsive problems of children with ADHD in 1902. Since that time, the disorder has been referred to by different names, including Minimal Brain Dysfunction, Hyperkinetic Reaction of Childhood, Attention Deficit Disorder, and, currently, Attention-Deficit Hyperactivity Disorder.

What is ADHD?

ADHD interferes with an individual's ability to stay attentive, particularly in the face of repetitive tasks; to manage effectively emotions and activity level; to respond consistently to consequences; and, perhaps, most importantly, to inhibit, i.e., to stop from doing something. Individuals with ADHD may know what to do, but do not do what they know, because they are unable to stop and think prior to responding, regardless of the setting or the task.

Characteristics of ADHD occur in early childhood for most individuals. Chronic behaviors last at least six months, with an onset often before seven years of age.

Four subtypes of ADHD have been defined. The first type is ADHD-Inattentive Type, and is defined by an individual experiencing at least six of the following characteristics:

  • Fails to give close attention to details or makes careless mistakes
  • Difficulty sustaining attention
  • Does not appear to listen
  • Struggles to follow through on instructions
  • Difficulty with organization
  • Avoids or dislikes tasks requiring sustained mental effort
  • Often loses things necessary for tasks
  • Easily distracted
  • Forgetful in daily activities

The second type is ADHD-Hyperactive/Impulsive Type, and is defined by an individual experiencing six of the following characteristics:

  • Fidgets with hands or feet, or squirms in seat
  • Difficulty remaining seated
  • Runs around or climbs excessively (In adults, it may be limited to subjective feelings of restlessness.)
  • Difficulty engaging in activities quietly
  • Acts as if driven by a motor
  • Talks excessively
  • Blurts out answers before questions have been completed
  • Difficulty waiting in turn-taking situations
  • Interrupts or intrudes upon others

The third type is ADHD-Combined Type, and is defined by an individual meeting both the inattentive and the hyperactive/impulsive criteria.

The fourth type is ADHD-Not Otherwise Specified, and is defined by an individual who shows some characteristics, but an insufficient number of symptoms to reach a full diagnosis. These symptoms, however, disrupt daily life.

School-age individuals with ADHD have a greater likelihood of not advancing to the next grade level, school dropout, academic underachievement, and social and emotional problems. It has been suggested that the symptoms of ADHD may cause children to fail in two of the most important areas for their development-school and peer relationships.

With increasing medical, educational, mental health, and community knowledge about the symptoms of and the problems caused by ADHD, an increasing number of individuals are being identified, diagnosed, and treated. Nonetheless, it is still suspected that a significant group of individuals with ADHD either go undiagnosed or misdiagnosed. Their problems intensify and create significant hurdles meeting life's demands.

Often, ADHD has been inaccurately portrayed as a learning disability. ADHD is a performance disorder. Children with ADHD are able to learn, but they have difficulty performing in school due to the impact of the ADHD symptoms. However, approximately 20% to 30% of children with ADHD do have a learning disability, which makes the identification and treatment of ADHD more difficult. In the childhood years, individuals with ADHD also have an increased risk of developing problems related to oppositional defiance, delinquency, conduct disorder, depression, and anxiety. However, research suggests that it is not ADHD alone, but rather ADHD combined with the development of conduct disorder that may cause the most terrible adolescent outcomes, particularly those related to criminal behavior and substance abuse.

Adults with ADHD also experience problems related to anti-social behavior, vocational and educational underachievement, depression, anxiety, and substance abuse. Unfortunately, many adults, today, with ADHD were not properly diagnosed as children. They grew up struggling with a disability that often went undiagnosed, misdiagnosed, or untreated.

The majority of adults with ADHD have symptoms very similar to those experienced by children. They are restless, easily distracted, inattentive, impulsive, and impatient. Often, they are unable to handle stress. Within the workplace, they may not achieve positions or status equal to that of their siblings or intellectual ability.

What causes ADHD?

Commonly suspected causes of ADHD have included toxins, developmental impairments, diet, injury, ineffective parenting, and heredity. It has been suggested that these potential causes affect brain functioning; thus, ADHD is considered a disorder of brain function. A number of studies have shown significant differences in the structure and brain function of individuals with ADHD, particularly in the right hemisphere of the brain, pre-frontal cortex, basal ganglia, corpus callosum, and cerebellum. These structural and metabolic studies, combined with family, genetic, and drug response studies, have indicated that ADHD is a neurobiological disorder. Though the severity of problems experienced by individuals with ADHD may vary based upon life experience, genetics appears to be the primary underlying factor in determining if an individual will show the symptoms of ADHD.

How is ADHD diagnosed?

Diagnosing ADHD is a multifaceted process. Many biological and psychological problems can cause symptoms similar to those shown by individuals with ADHD. For example, inattention is a symptom of depression. Impulsive behavior is a characteristic sign of delinquency.

A comprehensive evaluation is necessary to diagnose ADHD, in addition to considering and evaluating other causes, and determining the presence or absence of other conditions. Obtaining a careful life history is the most important aspect in diagnosing ADHD. Often, an evaluation for ADHD will assess intellectual, academic, social, and emotional functioning. A medical examination is important to rule out other possible causes of ADHD-like symptoms (e.g., adverse reaction to medications, thyroid problems, etc.). The diagnostic process must include gathering information from teachers and other adults who interact routinely with the individual being evaluated. Although office- or laboratory-based paper and pencil, problem solving, and computerized tasks are popular in assessing ADHD, researchers are evaluating their validity.

With adults, it is even more important to obtain a careful history of childhood, academic, behavioral, and vocational problems. Since ADHD has been recognized as a disorder that occurs throughout life, questionnaires and other related tools for diagnosing ADHD in adults have been standardized and are available.

How is ADHD treated?

Treating ADHD in children requires a coordinated effort between medical, mental health, and educational professionals, with the parents. The combined set of treatments offered by various individuals is referred to as "multi-modal intervention." A multi-modal treatment program for ADHD should include the following:

 

  • Parental training about ADHD and effective behavior management strategies
  • An appropriate educational program
  • Individual and family counseling, when needed, to minimize family problems
  • Medication, when required

Psychostimulants are the most widely used medications to manage ADHD symptoms. At least 70% to 80% of children and adults with ADHD respond positively to psychostimulant medications. These medications are considered performance enhancers. Thus, they may, to some extent, stimulate the performance of all individuals. However, given their specific problems, children with ADHD appear to improve, with a reduction in impulsive and hyperactive behavior and an increase in attention span.

Behavior management is important for children with ADHD. The use of positive reinforcement with punishment, in a model referred to as "response cost," is particularly effective for children with ADHD.

Most children with ADHD can be taught in a regular classroom with minor adjustments in the classroom setting, the addition of support personnel, and/or special education programs provided outside of the classroom. The most severely affected children with ADHD often require specialized classrooms.

Adults with ADHD may benefit from learning to structure their environment; to develop organizational skills; to receive vocational counseling; and, if needed, to have short-term psychotherapy to cope with life experiences and personal problems. For some individuals, with a combination of ADHD and other problems, particularly depression, long-term psychotherapy can be beneficial to teach behavior change and coping strategies.

ADHD treatments are effective in reducing immediate, symptomatic problems. However, the long-term outcome research for children with ADHD has led researchers to conclude that symptom relief alone may not significantly impact the long-term outcome. Thus, ADHD treatments are provided to relieve symptoms, while efforts also are made to assist the ADHD individual in building life success.

To help parents in treating their ADHD child, a nine-point set of strategies is outlined below (Goldstein and Goldstein, 1998).

Step 1: Learn About ADHD. It is important to understand that managing ADHD-driven behavior at home requires accurate knowledge of the disorder and its complications. This is not a problem that can be cured. It will affect children throughout their life. You must be consistent, predictable, and supportive of a child in daily interactions. You will be repeatedly placed in an advocacy position with schools and community resources. It is suggested that you consider joining a parent support organization directed at ADHD.

Step 2: Understanding Incompetence vs. Non-Compliance. You must distinguish between problems that result from incompetence and those that result from non-compliance. The former must be dealt with through education and skill building. The latter is usually quite effectively dealt with through consequences. You must understand that punishing a child for symptoms of ADHD may lead to remorse and a promise of better behavior, but stands little chance of changing behavior in the future.

You must develop a set of strategies to deal with ADHD symptoms by making tasks interesting, payoffs more valuable, and increasing consistency at home, while providing a consistent set of punishments for non-compliant behavior. The best way of dealing with non-compliance is to make certain that you have control over consequences, issue appropriate commands, manage rewards, and use response cost techniques.

Step 3: Give Positive Directions. You must make certain that positive, rather than negative, directions are given. A positive direction tells the child what to begin doing, rather than focusing on what to stop doing. Such directions are clear (e.g., "please begin your math homework"), rather than vague (e.g., "pay attention"). The need for repeated trials cannot be overemphasized. You serve as a control system for your child. Your child is going to require more management and supervision in an appropriate, consistent, affirmative way than other children.

Step 4: Provide Ample Rewards. You must provide ample rewards for appropriate behavior. Social and tangible rewards must be provided more frequently when an ADHD child succeeds. Children with ADHD also require more immediate, frequent, predictable, and consistently applied consequences. It is important for the child to learn to consistently act when expected behaviors are required. Most children with ADHD know how to do what is requested, but have difficulty doing so when they are supposed to. Children with ADHD also have been found to receive less positive reinforcement than their siblings.

It is important to avoid negative reinforcement. This only results in removing the negative consequences when the child complies. This often leads to immediate compliance, but, in the long run, it reinforces, rather than discourages, inappropriate behavior.

Token systems, which are particularly effective for children and early teens with ADHD, should be used. Often, token systems fail at home, not because they are ineffective, but because they can be cumbersome and then poorly managed. Tokens should be used with children who are four to seven years old, and points with those children who are eight years and older. Required activities should be kept to a reasonable length, and an extensive list of reinforcers should be available, with at least one third of points or tokens available each day. Children should be able to spend about two thirds of points or tokens earned each day. Bonuses should be paid for a good attitude. You should always allow your children to earn their way off a system through compliant behavior, but a minimum of six to eight weeks on a token system, once it is initiated, should be required.

Step 5: Choose Your Battles. You should choose your battles carefully. While it is essential for you to stay one step ahead, it also is important for you to recognize and accept the difficulties that your child experiences due to ADHD. You should reinforce positive behavior, apply immediate consequences for behaviors that cannot be ignored, and use tokens or points with ADHD children. Consequences, both rewards and punishments, should be provided quickly and consistently.

Step 6: Use Response Cost Techniques. You must understand the use of response cost, a punishing technique in which you might lose what you have earned. If a give and take response cost system is used, you must make certain the child does not go bankrupt. It may be equally effective, especially with older children and teens, to start with the entire payoff and then have the individual work to keep it. For example, instead of providing the child with a $5 allowance at the end of the week when she behaves appropriately, parents may place $5 in nickels in a jar on the shelf that is visible to the child. As long as the child behaves appropriately, the $5 belongs to the child. For every infraction that has been clearly defined and agreed upon between the parents and the child, a nickel is removed from the jar. At the end of the week, the remaining amount is given to the child.

Step 7: Plan Appropriately. You must learn to respond to the child's limits in a proactive way. Accepting the diagnosis of ADHD means accepting the need to make changes in the child's environment. Routines should be consistent and rarely vary. Rules should be stated clearly and concisely. Activities or situations in which the child has a history of risk for problems should either be avoided or carefully planned.

Step 8: Punishing Appropriately. Most likely, punishment alone will not reduce the symptoms of ADHD. However, punishment does play a role as a consequence for non-compliant behaviors. Punishment also is partially appropriate if a rule is violated, even as the result of ADHD. However, in this circumstance, punishment must not be provided alone, because it will not change the child's long-term behavior. For a child with ADHD, you must understand that unless a managing strategy is provided along with punishment, it is not likely that the punishment will cause a change in behavior.

Step 9: Building Islands of Competence. Because of your child's ADHD, there is a greater likelihood that the relationship between you and your child will be strained. However, in the end, it is what is right about children, rather than what is wrong about them, that best predicts their life outcome. Increasingly, the mental health field is focusing on building strengths, rather than attempting to hammer away at weaknesses. One of the best predictors of building strengths is the parents' relationship with their child. If you approach each day with a sense of hope, encouragement, acceptance, and honesty, you will empower your child. If you approach each day with a sense of despair, discouragement, anger, and blame, you will not only jeopardize your child's future, but also further feed their sense of powerlessness and hopelessness.

What research is being done?

Most likely, ADHD will continue to be the most widely researched and debated area in mental health and child development. New ground is broken daily. The five-year, multi-site, multi-modal ADHD treatment study recently completed by the National Institute of Mental Health has provided an expanded set of answers concerning the diagnosis, treatment, and outcome of individuals with ADHD. Ongoing studies of molecular genetics also may soon reliably identify the genes related to this disorder.

Other Information

Organizations, such as CH.A.D.D., 8181 Professional Plaza, Suite 201, Landover, MD 20785, (301) 306-7070, offer parents information, monthly magazines, newsletters, and presentations.

A large trade library of books, videos, and cassette tapes is available for parents, providing accurate information concerning ADHD and research proven effective parenting strategies.

References

Barkley, R.A. (1998). Attention Deficit Hyperactivity Disorder: A Handbook for Diagnosis and Treatment, 2nd edition. New York, NY: Guilford Press.

Barkley, R.A. (1997). ADHD and the Nature of Self-Control. New York, NY: Guilford Press.

DuPaul, G.J. & Stoner, G. (1994). ADHD in the Schools: Assessment and Intervention Strategies. New York, NY: Guilford Press.

Goldstein, S. (1997). Managing Attention and Learning Disorders in Late Adolescence and Adulthood: A Guide for Practitioners. New York, NY: Wiley Interscience Press.

Goldstein, S. & Goldstein, M. (1998). Managing Attention Deficit Hyperactivity Disorder: A Guide for Practitioners, 2nd Edition. New York, NY: Wiley Interscience Press.

Greenhill, L.L. & Osman, B.B. (1991). Ritalin: Theory and Patient Management. New York, NY: Mary Ann Liebert, Inc. Publisher.

Matson, J.L. (1993). Handbook for Hyperactivity in Children. Boston, MA: Allyn & Bacon.

Nadeau, K.G. (1995). A Comprehensive Guide to Attention Deficit Disorder in Adults. New York, NY: Brunner/Mazel Publishers.

About the Author

Sam Goldstein, Ph.D. is a member of the faculty at the University of Utah. He is on staff at Primary Children's Hospital and the University Neuropsychiatric Institute. Dr. Goldstein has served as Chairman of the National Professional Advisory Board for the organization Children and Adults with Attention Deficit Hyperactivity Disorder and is a member of the Professional Advisory Boards for the Attention Deficit Disorder Association and the National Parenting Instructors Association.

Dr. Goldstein's publications include articles, guides, book chapters and twelve texts on subjects including genetic and developmental disorders, depression, classroom consultation, learning disability and Attention Deficit Hyperactivity Disorder. His most recent texts include the Handbook of Neurodevelopmental and Genetic Disorders in Children (Guildford, 1998) and Managing Attention Deficit Hyperactivity Disorder in Children - 2nd Edition (Wiley, 1998).

Dr. Goldstein serves as Associate Editor for the Journal of Attention Disorders and is a member of the Editorial Boards of the ADHD Report, Archives of Clinical Neuropsychology and the Journal of Learning Disabilities.

Copyright 2012 Sam Goldstein, Ph.D., All Rights Reserved

Hypertension 

What is hypertension?

An elevated blood pressure level in a child is defined as a blood pressure that is above the 90th percentile for age and sex. Although the finding of an elevated blood pressure on physical examination constitutes an abnormal sign, it does not mean that hypertension (i.e., sustained blood pressure elevation) is persistent. Most pediatricians recommend that for a child to be diagnosed with hypertension the blood pressure must be abnormal (above the 95th percentile rank of age and sex) on at least 3 separate examinations over a 6- to 12-month interval (see table). The only exception is if at the time of the initial examination the child has signs and/or symptoms commonly found with severe hypertension (e.g., heart muscle enlargement, headache, dizziness, seizures, eye and vision damage).

Table: Levels of Severe Hypertension (95th Percentile) for Boys and Girls

Boys Girls
Age (years) Systolic BP Diastolic BP Systolic BP Diastolic BP
1 105 59 104 58
6 112 73 115 75
12 124 81 125 82
17 130 85 136 88

What causes hypertension?

Once a child is diagnosed with hypertension, its cause must be determined. The two major types of hypertension are as follows:

  1. Essential hypertension Essential hypertension (i.e., without any identifiable cause) occurs in 50% to 60% of children with hypertension. The majority of these children will be obese.
  2. Secondary hypertension The common causes of secondary hypertension include renal (kidney) disease, cardiovascular (heart and vessel) disease, endocrine (hormone or metabolism) disorders, and other miscellaneous conditions.

How is secondary hypertension diagnosed?

A thorough history and physical examination is essential in evaluating a child with secondary hypertension

In the history, the following significant points should be addressed:

  • Symptoms suggesting associated disease (e.g., unexplained fever - in kidney infection; leg pains with exercise - in coarctation of the aorta [see Coarctation of the Aorta article]; weight loss and tremor - in hyperthyroidism; sweating, night terrors, and palpations - in an adrenal gland tumor)
  • Medications or chemicals that can raise the blood pressure (e.g., birth control pill, steroids, amphetamines)
  • Any history of trauma

The physical examination should include the following:

  • Blood pressure and pulse should be taken in both the upper and the lower extremities. (A difference in pressure and pulse between the arms and the legs is diagnostic of coarctation of the aorta.)
  • A careful abdominal examination should be performed to detect masses (e.g., polycystic kidney disease, where the kidneys are too large because of multiple cysts; tumors) and abnormal pulses (e.g., renal artery stenosis, where the vessels supplying blood to the kidneys are abnormally narrow).
  • A careful examination of the skin should be performed (e.g., cafe-au-lait spots or brownish spots in neurofibromatosis, striae or skin stretch marks, hirsutism or male hair growth pattern of Cushing's syndrome).
  • A thorough eye examination should be performed.

The only routine laboratory tests that should be performed are as follows: urine dipstick, blood electrolytes, blood urea nitrogen, and creatinine. Other laboratory tests should be ordered based on both the history and the physical examination.

How is childhood hypertension treated?

All children with significant, sustained hypertension should be treated. The treatment of hypertension is divided into two major categories: hypertensive crisis and chronic hypertension.

  1. Hypertensive crisis Hypertensive crisis is defined as life-threatening hypertension that is associated with hypertensive encephalopathy (changes in the brain and neurologic function due to the increased blood pressure) and/or acute heart failure. The calcium-channel blockers amlodipine and nifedipine are very effective in treating hypertensive crisis. Other medications used include diazoxide, nitroprusside, and minoxidil. No matter what medication is used, once acute blood pressure reduction is achieved, other medicines need to be added to maintain long-term blood pressure control.
  2. Chronic hypertension The ideal therapy for chronic hypertension is to treat, if possible, the underlying disease that is responsible for the hypertension. If this is not possible, then nonpharmacologic (not using medications) and pharmacologic (using medications) intervention is needed.
    • Nonpharmacologic treatment Dietary management should be the initial form of therapy in all children with hypertension. Weight loss is the treatment of choice for the obese adolescent with essential hypertension. Lowering salt intake also can be helpful. In addition to dietary management, other nonpharmacologic therapies include quitting smoking, not taking oral contraceptive pills and other vasoactive drugs, and avoiding heavy alcohol consumption. Daily physical activity should be encouraged.
    • Pharmacologic treatment In pediatric patients, the first line of antihypertensive medications are angiotensin converting enzyme inhibitors and calcium channel blockers. The most common side effect of angiotensin converting enzyme inhibitors is a chronic cough. If a chronic cough requires the child to stop taking the converting enzyme inhibitor, an alternate therapy is angiotensin receptor antagonists. The most common side effects of calcium channel blockers are a rapid heart rate and fluid retention.

Until recently, diuretics and beta-blockers were the most commonly used drugs to treat childhood hypertension. However, most pediatricians are now reluctant to use them because of evidence suggesting that these agents may adversely affect plasma lipids and insulin sensitivity. Beta-blockers also can cause depression and impair school performance.

Other antihypertensive agents used to treat refractory hypertension include centrally-acting drugs (e.g., Clonidine, Guanabenz), alpha-blockers, and vasodilators (e.g., hydralazine, minoxidil).

What is the goal of hypertension treatment?

The goal of therapy is to keep the child's blood pressure below the 90th percentile for age and sex. Parents must be taught not only to monitor their child's blood pressure at home, but also to monitor for signs of medication-induced side effects.

Successful therapy should not interfere with the child's academic performance, involvement in sports, or interest in social activities. Participation in team sports should be encouraged unless there is clear evidence of heart dysfunction.

Once the child's blood pressure is under good control, the child should be evaluated (at least) on an annual basis to assess cardiac status, physical growth and development, and sexual maturation patterns.

References

Report of the Second Task Force on Blood Pressure Control in Children. Pediatrics 1987;79(1):1-25.

Sinaiko AR. Pharmacologic management of childhood hypertension. Pediatr Clin North Am 1993;40(1):195-212.

Falkner B. Management of hypertensive children and adolescents. In: Izzo JL, Black HR, eds. Hypertension primer: the essentials of high blood pressure. 2nd ed. American Heart Association, 1999:424.

About the Author

Dr. Rocchini received both his bachelor of science degree in chemical engineering and his medical degree from the University of Pittsburgh. He completed his pediatric residency at the University of Minnesota and his pediatric cardiology fellowship at the Children's Hospital of Boston. Dr. Rocchini is currently a professor of pediatrics and serves as director of pediatric cardiology at the University of Michigan. His research interests include interventional cardiac catheterization and obesity-induced hypertension.

Copyright 2012 Albert P. Rocchini, M.D., All Rights Reserved

Hypothyroidism 

What is hypothyroidism?

Hypothyroidism is a deficiency in thyroid hormone secretion and a reduction of action of its hormones on the cells of the body. In children, there are two forms: (1) congenital hypothyroidism, present at birth; and (2) acquired hypothyroidism, a disease with an onset at any time after birth, usually after six months of age. In each of these two forms, there are two categories: (1) primary hypothyroidism, a failure of secretion by a damaged, defective, or absent thyroid gland; and (2) hypothalamic/pituitary hypothyroidism, a failure of the mechanism that stimulates the thyroid gland from the base of the brain, called the hypothalamus and the pituitary gland.

The thyroid hormones are called thyroxine, or T4, and triiodothyronine, or T3. The pituitary hormone that stimulates the thyroid gland is called thyroid stimulating hormone, or TSH.

What causes hypothyroidism? 

In most cases, the cause of congenital hypothyroidism is not known. A few cases of inherited hypothyroidism are caused by mutations in the genes producing specific proteins (known as enzymes) that are required to make thyroid hormones. These mutations are inherited as autosomal recessive traits, i.e., the parents are unaffected, and the child is affected because the child receives a mutation from each parent. The parents have a one-in-four chance of having an affected child. Occasionally, a maternal disease or a medication can interfere with the thyroid gland of the unborn child. In certain areas of the world, a dietary lack of iodine causes hypothyroidism.

Most cases of acquired hypothyroidism are caused by autoimmune thyroiditis, a self-inflicted destruction of the thyroid by the body's immune system. The processes that cause this condition are poorly understood. An inappropriate immune response is directed against the thyroid; the body does not recognize its own thyroid gland and generates an immune response against the normal thyroid cells to cause inflammation, irritation, or damage. Infrequently, surgical removal of the thyroid, certain medications or chemicals, or damage by radiation treatment for cancer may cause hypothyroidism.

Who gets hypothyroidism?

In most cases, congenital hypothyroidism is sporadic. It occurs worldwide, once in every 4,000 newborn infants, and affects girls twice as often as boys. In the inherited forms, an equal number of males and females are affected. An infant born to a mother with iodine deficiency, or an infant receiving, or exposed to a mother given, excessive amounts of iodine for antiseptic reasons may have hypothyroidism. The problem will continue until exposure to deficient or excessive iodine is corrected.

The majority of cases of acquired hypothyroidism occur in females with autoimmune diseases. It may occur: (1) as autoimmune thyroid disease only; (2) in association with other autoimmune diseases, such as insulin-dependent diabetes mellitus, alopecia (hair loss), rheumatoid arthritis, and lupus erythematous; or (3) in association with other diseases, such as Down syndrome and Turner's syndrome.

How does hypothyroidism cause disease?

Thyroid hormones regulate metabolism, i.e., the amount of energy that is available for body functions. The production of proteins, especially those called enzymes, is controlled by thyroid hormones. They regulate how much sugar is converted to energy, how much protein is converted into muscle, and how much fat is stored and available for energy. From early in fetal life through two to three years of age, thyroid hormones acquired from the mother and those produced by the unborn child in the second and third trimesters of pregnancy are essential for normal brain development.

What are the common findings?

The common findings of hypothyroidism are summarized in the table. The appearance of a specific symptom and sign depends upon the age when hypothyroidism develops and its severity. Often, the findings in a child may not be obvious to the parents or the physician.

Table. Common findings of hypothyroidism.

Congenital hypothyroidism

Acquired hypothyroidism

Findings during first two weeks of life - Prolonged yellow jaundice - Swelling of the eyelids, hands, and feet - Gestation more than 42 weeks - Birth weight more than 4 kg - Poor feeding - Low body temperature - An enlarged, swollen abdomen - Large midline fontanelles Findings beyond age one month - Darkening and mottling of the skin - Stressful, frequent, and labored breathing - Failure to gain weight; poor sucking ability - Decreased stool frequency - Decreased activity and lethargy Findings after age three months - Swollen and protuberant umbilicus - Infrequent and hard stools - Dry skin with yellow coloration - Large tongue - Generalized swelling - Hoarse cry

Findings between six months and three years - Deceleration of linear growth - Coarse facial features - Dry skin with yellow coloration - Hoarse cry and large tongue - Swollen and protuberant umbilicus - Enlargement of the arm and leg muscles Findings during childhood - Slow growth and short stature - Delay in eruption of teeth and in shedding primary teeth - Muscle weakness; enlargement of the arm and leg muscles - Infrequent and hard stools - Dry skin with yellow coloration - Generalized swelling - Early sexual development Findings during adolescence - Late onset of puberty - Slow growth and short stature - Delay in eruption of teeth and in shedding primary teeth - Infrequent and hard stools - Dry skin with yellow coloration - Discharge from the breasts (in girls) - Generalized swelling

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How is hypothyroidism diagnosed?

For newborns in many areas of the world, there are routine, mandated screening programs for congenital hypothyroidism. An elevated TSH on the newborn screening test requires that a repeat TSH test be performed. Other tests are performed to define the cause (inherited or sporadic) and the severity of hypothyroidism. In older infants and children, hypothyroidism is suspected by: (1) the presence of a large thyroid gland, or goiter, on examination of the neck; (2) a failure to maintain a normal rate of growth in height; (3) the symptoms and signs of hypothyroidism (see table); (4) a suspicion of it because members of the family have thyroid diseases; or (5) a routine screening for TSH in children at increased risk for hypothyroidism.

Hypothyroidism is diagnosed by blood tests for TSH and free T4. An elevated TSH is the most sensitive test for thyroid gland failure. A low free T4 is the diagnostic test for hypothalamic/pituitary hypothyroidism, and, usually, it is low in primary hypothyroidism, except in mild cases. Typically, the cause of thyroid gland failure is autoimmune thyroiditis, which is diagnosed by finding thyroid antibodies from a blood test. When the TSH value is increased and the T4 value is decreased, treatment with thyroxine is started. Thyroxine treatment usually is started when the TSH value is increased, yet the T4 value still is normal, as long as the cause of hypothyroidism is known.

In patients with hypothalamic/pituitary hypothyroidism, there usually are other pituitary hormone deficiencies, such as low levels of growth hormone (when the patient is subjected to growth hormone secretion tests); low levels of the sex hormones at the pubertal ages; and, less often, low levels of hydrocortisone and high levels of prolactin, which is the pituitary hormone that stimulates the secretion of milk in the mother after delivery.

How is hypothyroidism treated?

Treatment for hypothyroidism is easy and inexpensive. Typically, levothyroxine (L-thyroxine) is prescribed, and the tablets should be given at least 30 minutes before a meal or infant feeding. The daily dose per body weight steadily decreases from early infancy to childhood to an adult dose in adolescence. Treatment must be individualized; the amount that is absorbed and handled by the body differs among individuals. Careful monitoring of blood tests (TSH and free T4 or T4) until the values are normal, and then annually after three years of age once the tests become normal, is essential for optimal management.

What are the complications?

There are no complications from L-thyroxine treatment when the proper dose is taken and the blood tests are monitored on a regular basis. There are complications associated with unrecognized or inadequately treated hypothyroidism, and the worst outcome occurs if treatment is delayed in early infancy. Severe hypothyroidism before birth, and a delay of treatment after birth, is associated with an impaired intellect (as determined by IQ tests) and other neuropsychological abnormalities. After two or three years of age, there are adverse effects of untreated hypothyroidism; however, in most cases, they are reversible with adequate treatment.

Usually, if hypothyroidism is not adequately treated within approximately the first 6 to 12 months after its onset, a decrease in the rate of growth and, in many instances, shortness of stature occur. If prolonged into the adolescent years, the final adult height may be less than expected despite appropriate treatment. Prolonged hypothyroidism also is associated with high levels of cholesterol, slowing of mental function and school performance, an occasional episode of hip or knee pain from a slippage of the growth center of the hips (usually requires surgical intervention), and chronic constipation. Except for the normalization in growth, these abnormalities should disappear with appropriate treatment

How can hypothyroidism be prevented?

Hypothyroidism cannot be prevented unless it is caused by a nutritional deficiency of iodine; excessive iodine intake; certain drugs, like lithium, that block the ability of the thyroid gland to produce thyroid hormones; or drugs that impair the absorption of thyroxine in those individuals who are taking it for hypothyroidism. If taken with thyroxine, iron medications and high fiber in food will prevent the absorption of thyroxine. Calcium tablets also may interfere with its absorption.

What research is being done?

In congenital hypothyroidism, research is being focused on the mutations that cause the familial thyroid disorders, the cause(s) of the sporadic disease, and the effects of maternal hypothyroidism on the unborn child. There is considerable interest in discovering the mechanisms that cause autoimmune diseases, with a focus on autoimmune thyroid diseases, the occurrence of diabetes mellitus in specific families with autoimmune thyroid diseases, and an understanding of those antibodies that injure thyroid cells and other antibodies that bind to and block the TSH receptor.

Links to other information

References

Familial Thyroid Diseases Including Hypothyroidism

Vassart G, Dumont JE, Refetoff S. Thyroid disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 1995:2883-2928.

Hypothyroidism

Fisher DA. Management of congenital hypothyroidism. J Clin Endocrinol Metab 1991;72:523.

Foley TP Jr. Congenital hypothyroidism. In: Braverman LE, Utiger RD, eds. Werner and Ingbar's The Thyroid. 8th ed. Philadelphia: Lippincott-Raven, 2000:chap 82, part B, 977-983.

Foley TP Jr. Acquired hypothyroidism in infants, children and adolescents. In: Braverman LE, Utiger RD, eds. Werner and Ingbar's The Thyroid. 8th ed. Philadelphia: Lippincott-Raven, 2000:chap 82, part C, 983-988.

Foley TP Jr. Hypothyroidism. In: Hoekelman RA, Friedman SB, Nelson NM, Seidel HM, Weitzman M, eds. Primary Pediatric Care. 4th ed. St. Louis: Mosby-Year Book, Inc., 2000:chap 218. In press.

LaFranchi S, Dussault JH, Fisher DA, Foley TP Jr, Mitchell ML. Newborn screening for congenital hypothyroidism: recommended guidelines. Pediatrics 1993;91:1203-1209.

About the Author

Thomas P. Foley, Jr. MD is Professor of Pediatrics in the School of Medicine and Professor of Epidemiology in the Graduate School of Public Health at the University of Pittsburgh and a member of the Medical Staff of the Children's Hospital of Pittsburgh since 1971. Areas of scientific interest include (1) pediatric thyroidology with specific interests in congenital hypothyroidism, acquired hypothyroidism, hyperthyroidism and thyroid cancer; (2) auxology; and (3) international pediatrics with specific interests in radiation-induced thyroid cancer associated with the Chernobyl accident, autoimmune thyroid diseases, iodine deficiency disorders, newborn screening, toxicology and the effects of maternal hypothyroidism on fetal development. My personal interests are my family (wife, son and step-children), music (opera, classical music and traditional bluegrass music as lead vocal and guitar for The Allegheny River Boys, Revonah RS-506, 1978), sports (spectator and participant) and humanitarian assistance for children and child health through Child Health International (web site of a subsidiary: trfn.clpgh.org/orgs/bach).

Copyright 2012 Thomas P. Foley, Jr., M.D., All Rights Reserved

Infectious Mononucleosis 

What is infectious mononucleosis?

Infectious mononucleosis, also known as "kissing disease," mononucleosis, or, sometimes, just "mono," is an illness characterized by many complaints, but primarily by fever, fatigue, tiredness, enlarged lymph nodes ("lymphadenopathy"), and a sore throat. This disease was originally described in the late nineteenth century as "glandular fever," and it is still known by that name in Europe.

What causes infectious mononucleosis?

The Epstein-Barr Virus (EBV), a DNA virus that is a member of the herpesvirus family of viruses, causes approximately 90% of cases of infectious mononucleosis. Approximately 10% of cases of infectious mononucleosis-like illnesses are caused by primary infection with cytomegalovirus, Toxoplasma gondii, Human Immunodeficiency Virus (HIV), adenovirus, viral hepatitis, and rubella virus.

Who gets infectious mononucleosis?

EBV is found throughout the world and infects more than 98% of the world's population. In underdeveloped and developing countries, and in socio-economically disadvantaged populations of the United States, up to 100% of children are infected with EBV by 2 to 4 years of age. In more affluent populations in the United States, initial EBV infection also occurs more often in young children, but approximately 50% of infection occurs during adolescence and young adulthood. Because initial EBV infection in young children tends to be without any symptoms, most cases of what is diagnosed as infectious mononucleosis occurs in adolescence and young adulthood, even though EBV infection is more common in young children

How does EBV cause disease?

EBV and the other causes of infectious mononucleosis are transmitted from person-to-person by direct contact or by contaminated secretions of the nose and the mouth. EBV then causes infection in the throat that results in the symptoms of a sore throat and swollen lymph nodes in the neck. The virus then spreads to the white blood cells in the blood stream and causes enlarged lymph nodes in other places throughout the body. The virus, like all other herpesviruses, establishes lifelong infection in the affected person. However, this lifelong infection generally does not cause any symptoms.

What are the common findings?

six weeks. Initial infection in young children is often without any symptoms, or with only mild symptoms. Primary infection in approximately 50% of adolescents and adults appears as fever, fatigue and tiredness, swollen lymph nodes, a sore throat, and, sometimes, an enlarged spleen and liver. Symptoms typically develop over several days and persist for a variable period of days, with gradual spontaneous resolution. The total duration of the disease usually is two to three weeks without complications.

How is infectious mononucleosis diagnosed?

Initially, infectious mononucleosis can be diagnosed in an adolescent or adult on the basis of the typical symptoms-fever, fatigue and malaise, swollen lymph nodes, and a sore throat. The complete blood count may show an uncommon type of white blood cells ("atypical lymphocytes"), which can suggest infectious mononucleosis. The diagnosis is confirmed by checking for antibodies to the virus. If one of the many other causes of infectious mononucleosis is considered, specific blood tests for those causes are available.

How is infectious mononucleosis treated?

There is no specific treatment for infectious mononucleosis. Antibiotics usually are not helpful because the primary cause, EBV, is a virus. Viruses cannot be treated with antibiotics. Antiviral therapy with acyclovir has been shown to decrease viral growth and shedding of EBV from the mouth, but this treatment does not affect the severity of symptoms, the duration of the clinical course, or the eventual outcome.

Infectious mononucleosis is treated primarily with rest and symptomatic therapy. Fever should be treated with acetaminophen or ibuprofen. Because the spleen may be enlarged and may easily rupture, it is advisable to refrain from participation in any contact sports and strenuous physical activities for the first two to three weeks of illness, or, if an enlarged spleen is present, until it has resolved.

Some patients with infectious mononucleosis have such greatly enlarged tonsils that they have difficulty breathing or swallowing. For these patients, steroids have been shown to have a dramatic effect in shrinking enlarged tonsils within 12 to 24 hours. However, most persons with infectious mononucleosis do not require steroids.

What are the complications?

The great majority of patients with infectious mononucleosis recover uneventfully without complications. Some chronic conditions have been suggested to be associated with infectious mononucleosis, but this has not been proved. At present, there is no evidence to support the association of EBV infection with chronic fatigue syndrome or chronic immune dysfunction.

EBV is a virus that has been associated with several human cancers, including nasopharyngeal carcinoma, Burkitt lymphoma, Hodgkin disease, and lymphomas and smooth muscle tumors ("leiomyosarcomas") in individuals with decreased ability to ward off other infections.

How can infectious mononucleosis be prevented?

There is no vaccine for EBV or the other causes of infectious mononucleosis. There is very little information on how to prevent it. Outbreaks are uncommon. Minimizing exposure to the oral secretions of infected persons can prevent the spread of infectious mononucleosis. Most healthy adults excrete EBV from the mouth periodically throughout their lives, with approximately 20% of the healthy adult population excreting EBV at any given time.

What research is being done?

There is much research into the molecular events that are important in the control of EBV after the initial infection resolves. There is interest in developing a vaccine because almost everybody is infected with EBV in childhood and because of the association of EBV with several types of cancer

About the Authors

Hal Jenson, M.D.

Dr. Jenson graduated from George Washington University School of Medicine in Washington, DC,

He also completed a residency in pediatrics at the Rainbow Babies and Children's Hospital of Case Western Reserve University in Cleveland, Ohio, and a fellowship in pediatric infectious diseases and epidemiology at Yale University School of Medicine.

Dr. Jenson has an active research program on the biology of Epstein-Barr virus and other human and non-human primate herpes viruses.

He is active in the general pediatric and infectious diseases teaching and clinical activities of his Department and Division, is a co-editor of Nelson Textbook of Pediatrics and of Pediatric Infectious Diseases: Principles and Practice, and authors the book Pocket Guide to Vaccination and Prophylaxis.

Charles T. Leach, M.D.

Dr. Leach received his medical degree at the University of Utah School of Medicine and completed his pediatrics residency as well as a fellowship in pediatric infectious diseases at UCLA.

He is currently Associate Professor and Director of Research in the Department of Pediatrics at the University of Texas Health Science Center at San Antonio.

Dr. Leach conducts scientific research in the areas of herpes virus infections, pediatric AIDS, and infectious diseases among residents of the Texas-Mexico border.

Copyright 2012 Hal B. Jenson, M.D., All Rights Reserved

Kawasaki Syndrome 

What is Kawasaki Syndrome?

Kawasaki Syndrome is an illness that occurs in young children between the ages of 6 months and 12 years, with the average age being from 1 to 2 years. The illness was originally described in Japan in 1967 by a pediatrician named Dr. Tomsaku Kawasaki. He called the illness "Mucocutaneous Lymph Node Syndrome" because the disease involved the skin, the mucus membranes (i.e., lips, tongue, mouth, and eyes), and often the swollen lymph nodes in the neck.

The illness was first described in the United States in the early 1970s, and several thousand cases are reported each year to the Center for Disease Control (CDC). The disease involves inflammation of the eyes, the lips, the throat, and the skin. It also causes inflammation of the blood vessels within the body. The inflammation of the blood vessels can particularly affect the coronary arteries, resulting in weakening of the artery wall and formation of coronary artery aneurysms.

What causes Kawasaki Syndrome?

The cause of Kawasaki Syndrome remains unknown despite research to identify the cause. The illness appears to be an inflammatory/infectious disease since it involves a high fever and a rash, and it occurs suddenly in otherwise healthy children. Blood tests show a high white blood cell count, and other laboratory tests that measure inflammation also are elevated, suggesting either a bacterial infection or a bacterial toxin. Some experts feel that a virus or other infectious agent may cause the disease.

Who gets Kawasaki Syndrome?

This disease occurs in otherwise healthy children and most often strikes children between the ages of one and two years. It can occur in children of any ethnicity; however, there is a higher incidence of this disease in children of Asian ancestry, whether or not they live in the United States or in Asia. Hispanic children and African-American children have a higher incidence of this disease than Caucasian children. The reason for these differences is not known at the present time.

How does Kawasaki Syndrome cause disease?

Currently, it is believed that the symptoms of this disease are caused primarily by the body's inflammatory response to the unknown agent that causes Kawasaki Syndrome. The damage to the coronary arteries that may occur could be the result of some direct action by the microorganism or the toxin, or it may be due to the body's immune response to whatever causes Kawasaki Syndrome.

What are the common findings?

Usually, the illness begins abruptly, with the onset of a high fever. In untreated cases, the average duration of the fever is 10 days, much longer than is usually seen in a viral infection. Within a day or two of the fever, the child develops red, "bloodshot" eyes and red, cracked lips. A parent may notice a swollen lymph node in the neck.

The child also develops a blotchy, flat rash over the body. The rash may be very red and intense in the diaper area. The palms and the soles become bright red, and the hands and the feet may be swollen. Often, the child is very irritable and difficult to console. Vomiting and diarrhea also can occur; however, they are less common than the fever, the rash, the red eyes, the red lips, and irritability. Fourteen to 21 days after the start of the illness, parents may notice peeling of the hands and the feet.

How is Kawasaki Syndrome diagnosed?

Since the cause of Kawasaki Syndrome is not known, there is no blood test that proves that the patient has Kawasaki Syndrome. It is a clinical diagnosis, and the doctor must try to prove that the patient does not have any other condition that would require other therapy. There are many other causes of a rash and a fever in children; therefore, the diagnosis of Kawasaki Syndrome can be very difficult. Viral infections (including measles) can mimic this disease, as can reactions to antibiotics and other medications.

An allergic reaction to a medication can produce both a fever and a rash. Certain bacterial infections, such as scarlet fever and toxic shock syndrome, also can mimic Kawasaki Syndrome. The diagnosis of Kawasaki Syndrome should be considered when the clinical findings are present, the blood tests suggest significant inflammation, and no other cause of the findings can be found. A pediatric infectious disease specialist and a pediatric cardiologist should evaluate children who are suspected of having Kawasaki Syndrome.

How is Kawasaki Syndrome treated?

Although the cause of this disease is not known, an effective treatment is available. IVIG (intravenous gamma globulin) reduces the signs of inflammation in the body and reduces the risk of development of coronary artery aneurysms. Before IVIG was used for this disease, the risk of development of coronary artery aneurysms was approximately 20%.

If IVIG is given within the first 10 days of the onset of Kawasaki Syndrome, this risk has now been reduced to between 2% and 4%. High dose aspirin also is used initially to reduce inflammation. Low dose aspirin is used in the later stages of the disease to prevent any clots from developing in inflamed blood vessels.

What are the complications?

In most children who are treated with IVIG, there are no complications. The fever and the rash disappear, and the child returns to normal within one to two weeks. Peeling of the fingers and the toes occurs in children whether or not they are treated with IVIG. If a child develops coronary artery aneurysms, he/she will need to be followed by a pediatric cardiologist, and may require long-term aspirin therapy or other cardiac medications.

Since this is a relatively new disease, long-term follow-up on children (from 30 to 50 years) is not yet available. The short-term follow-up suggests that children who recover from Kawasaki Syndrome and who have no cardiac abnormalities remain healthy, active children.

How can Kawasaki Syndrome be prevented?

Kawasaki Syndrome cannot be prevented. If a cause of the disease is identified, it may be possible to develop a vaccine.

What research is being done?

Research on Kawasaki Syndrome is being conducted in the United States, in Japan, and in many other countries around the world. Kawasaki Syndrome has been reported from all continents. Hundreds of thousands of cases have occurred in children in Japan. Research focuses on the possible cause of Kawasaki Syndrome, and on new therapies for children who do not respond to IVIG.

Links to additional information

There are numerous Web sites that can be found by searching under "Mucocutaneous Lymph Node Syndrome" and under "Kawasaki Syndrome" or "Kawasaki Disease."

References

 

Bradley, DJ, Glode, MP. Kawasaki disease: the mystery continues. West J Med 1998;168:23-9.

Taubert, KA, Shulman, ST. Kawasaki disease. American Family Physician 1999;59,11:3093-3102.

About the Author

Dr. Anderson is an Assistant Professor of Pediatrics and Pediatric Infectious Disease Specialist at the Children's Hospital and University of Colorado Health Sciences Center in Denver, Colorado.

Dr. Glode is an international expert on Kawasaki Disease. She is a Professor of Pediatrics and Vice-Chair of the Department of Pediatrics at the Children's Hospital and University of Colorado Health Sciences Center in Denver.

Copyright 2012 Marsha Anderson, M.D., All Rights Reserved

Language Development in Young Children 

What is language?

It is easiest to explain what language is not-language is not speech. Speech refers to the developmental process known as articulation. Sounds, syllables, and words are formed when the vocal chords, tongue, jaw, teeth, lips, and palate change the stream of air that is produced by the respiratory system. The English language is a complicated system that can be defined by the following units: phonology, morphology, syntax, semantics, and pragmatics. Basically, the English language is governed by a set of rules. For some children, understanding (receptive language) and using (expressive language) these rules appropriately can be difficult. A significant delay in receptive and expressive language skills may be referred to as a language disorder. It is important to note that language processing and cognition are two different issues. Many very bright children have difficulty with language, and may simply require a "boost" in language skills from a qualified speech language pathologist.

What does a language disorder look like?

Because there are so many different aspects to language, not all language disorders look alike. For example, obvious delays in expressive language are evident in a 2-year-old child who has a vocabulary of less than 50 words, or in the 3-year-old child who cannot combine more than two words together. Some children with language disorders progress through their toddler years in a typical manner, but have difficulty when they are older using salient language or maintaining the topic of conversation. Other children may have difficulty with receptive language skills and appear to always misunderstand what has been said to them or be considered "poor listeners." They may have problems with attention or following directions. Language problems may surface in the aspect of pragmatics, such as the child who always seems to say the wrong thing at the wrong time, or who has limited social skills with his/her peers. Language difficulties may be apparent when children have difficulties in reading and writing, and even in math.

What causes a language disorder?

True, kids not only "say the darndest things," but they say them in such a cute way. What is not The cause of a language disorder depends on the type of delay. Sometimes, it can be pinpointed to an obvious event in the child's life, such as a brain injury. However, many language disorders have no known cause. Although specific parts of the brain govern specific language skills, it is often impossible to determine why a child has difficulty with a certain aspect of language.

Who do I talk to about this first?

Parents should contact their child's doctor to discuss the possibility of consulting with a certified speech language pathologist if they are concerned about their child's language skills. Early intervention is considered the "best practice," and it is especially important when the child appears to be having any type of difficulty with gestural, spoken, or written communication.

What is a speech language pathologist?

A speech language pathologist (commonly know as a speech therapist) holds a master's degree or doctorate, and is trained to evaluate and treat speech, language, and learning issues. Some speech language therapists have additional training in feeding, augmentative communication, and other highly specialized areas. Some therapists work strictly with adults, while other therapists work with children. It is important to ask the therapist if he/she has experience with language disorders in children. Parents should always be sure that the therapist is certified by the American Speech-Language Hearing Association and is licensed by their state. A skilled speech language pathologist will assess the child's skills, while consulting with other professionals to rule out other conditions that may be impacting language skills, such as hearing loss, sensory integration problems, or emotional disturbances.

Therapy sounds like drudgery -- my child will hate it!

Surprisingly to many parents, speech language therapy does not have to be a dreaded task. In fact, it does not feel like "therapy" to many children. Speech language pathologists incorporate group activities, games, movement, computers, crafts, and even cooking into the therapy sessions to facilitate language development.

Copyright 2012 Melanie Potock, M.A., CCC-SLP, All Rights Reserved

Lead Poisoning 

Read more about this here.

Leukemia 

What is leukemia?

Leukemia is a cancer of the blood cells that begins in the bone marrow or the lymph glands where the blood cells are made. Bone marrow occupies the center of all bones, especially bones of the pelvis, the lower spine, and the thighs. Lymph nodes are all over the body, but they usually are too small to feel.

Like all cancers, leukemia is caused by uncontrolled cell division and growth. There are "signals" and "switches" within the genetic material and proteins of each cell of the body that strictly control whether the cells start or stop dividing to make more cells. For example, when a finger is cut, these "signals" and "switches" tell the skin cells to regrow just enough to replace the area of damaged skin and then to stop, without forming big lumps of skin.

Leukemia usually develops in the white blood cells that normally circulate through the blood stream and the lymph nodes to defend the body against infection. Leukemia begins in one cell whose "signals" and "switches" have stopped working correctly. This one abnormal cell divides into two abnormal cells, which divide into more and more abnormal cells. These leukemia cells eventually fill up the bone marrow space, thereby crowding out normal bone marrow cells and spreading into the blood stream and the lymph nodes. As a result, the cells that carry oxygen (red blood cells), the cells that help clot blood (platelets), and the normal white cells that fight infection are reduced greatly in number.

What is acute lymphoblastic leukemia?

Acute lymphoblastic leukemia is the most common leukemia and cancer of childhood. The word "acute" refers to the fact that patients diagnosed with this leukemia in the early 20th century survived for only a short time. The word "lymphoblastic" refers to the type of white cell that has become cancer. Normal lymphoblasts mature over days to weeks into lymphocytes that defend against infection. Lymphoblasts of leukemia cannot mature or fight infection.

What causes acute lymphoblastic leukemia?

The cause of this type of leukemia is unknown; therefore, it cannot be prevented at the present time. Several changes that occur in a normal lymphocyte over a period of time probably turn it into a leukemic cell. For some cases of acute lymphoblastic leukemia, the first change occurs in fetal life before birth.

Exposure to electrical power lines, toxic chemicals, radon, or radiation has not been proven to cause this leukemia. Although a specific virus causes leukemia in cats, viruses do not appear to cause acute lymphoblastic leukemia in children. This type of leukemia does not appear to be inherited because it very rarely occurs in more than one child per family.

Who gets acute lymphoblastic leukemia?

Acute lymphoblastic leukemia is rare. Its incidence is fairly similar worldwide. In the United States, about 3,000 children are diagnosed with this disease each year. For children between infancy and 15 years, acute lymphoblastic leukemia occurs yearly in 1 child among every 25,000 children. For patients aged 2 to 6 years, acute lymphoblastic leukemia occurs yearly in 1 child among every 5,000 to 10,000 children. Although very rare, even newborns and adults can develop acute lymphoblastic leukemia. In the United States, acute lymphoblastic leukemia is much less common among African Americans than Caucasians; however, the reason for this difference is unclear.

What are the common symptoms at diagnosis?

The symptoms of acute lymphoblastic leukemia often mimic more common illnesses of childhood. These symptoms are related to reduced numbers of normal bone marrow and blood cells. Patients develop anemia because of low numbers of the red blood cells; they often appear pale with fast heart rates, and, sometimes, they feel lightheaded and tire out easily. Patients with acute lymphoblastic leukemia often bruise more easily and get more nosebleeds because the cells that clot blood (platelets) are low in number. Patients often have several weeks of unexplained fever before acute lymphoblastic leukemia is diagnosed. Sometimes, these fevers are because of infections; other times, they are because of the leukemia itself. About 25% of patients experience bone pain for days to weeks before the diagnosis, especially in the pelvis, the spine, and the legs. About 50% of patients develop swollen lymph nodes in the neck, under the armpits, or in the groin. The liver and the spleen, usually tucked beneath the right and left lower rib cage in the abdomen, can enlarge and become painful as leukemic cells fill the many blood vessels within these organs. Occasionally, a boy's testicles swell as leukemic cells invade them. The lymph nodes deep within the chest may become swollen with leukemic cells, causing a child to breathe faster and harder than normal.

How is acute lymphoblastic leukemia diagnosed?

The symptoms described above will prompt a physician to draw the child's blood for a complete blood count (CBC). Often, this CBC shows that the number of red blood cells, and/or platelets, and/or type of white cell called "neutrophils" is low. The total number of white cells in the CBC may range from very low to very high. The lymphoblasts may be recognized on the blood smear when viewed in the laboratory under the microscope.

The final diagnosis of acute lymphoblastic leukemia is made by a bone marrow examination. The bone marrow procedure entails placing a needle into the pelvic bone a few inches to the right or left of the spine and a few inches above the buttocks. This needle goes through the skin, the muscle, and the bone, and into the bone marrow space. From here, liquid bone marrow, filled with leukemic cells, is aspirated into an attached syringe. The bone marrow aspiration procedure is painful; a child usually is sedated and given pain medicine during the procedure.

Children with symptoms similar to those of patients with leukemia may have a different diagnosis. In those cases, the CBC is either completely normal or has abnormalities of only one blood cell type. Certain viral infections, joint diseases, or other blood diseases can mimic the symptoms of leukemia. Occasionally, children with acute lymphoblastic leukemia have symptoms of fever and bone or joint pain and a completely normal CBC. In such cases, the diagnosis is uncertain until the bone marrow aspiration shows the leukemia.

How is acute lymphoblastic leukemia treated?

If untreated, acute lymphoblastic leukemia is a fatal disease. However, with modern day treatment, the majority of children with acute lymphoblastic leukemia are cured. Since the 1960s, many children with acute lymphoblastic leukemia and other cancers have participated in randomized clinical trials sponsored by national cooperative organizations, such as the Children's Cancer Group and the Pediatric Oncology Group. Major progress in the treatment of childhood cancers has been made because of the research efforts of these groups.

Children with leukemia are treated by pediatric oncologists and nurses in specialized facilities; patients and families usually are supported by social workers and child life specialists.

The medicines used to treat leukemia and other cancers are called chemotherapy. Chemotherapy drugs can be taken by mouth or injected into the blood stream through a vein, into soft tissue, or into muscle. Because leukemic cells tend to "hide out" in the lining of the brain and the spine, specific chemotherapy is injected into the spinal fluid by a procedure called a lumbar puncture. This procedure involves inserting a small needle into a space between two vertebrae of the lower spine, removing some spinal fluid, and injecting chemotherapy into the spinal fluid space. This procedure usually is performed with topical anesthetic and sedation.

Some of the chemotherapy drugs originally came from products of nature, such as the periwinkle and may apple plant or the bark of the yew tree, or from microorganisms, such as fungus. Other chemotherapy drugs were designed in laboratories. The first chemotherapy drug was developed in the late 1940s. Before that time, patients with acute lymphoblastic leukemia did not survive; all of them died of infection or bleeding within several months of diagnosis.

Treatment of acute lymphoblastic leukemia has evolved during the past 40 years; today, a child may receive up to 15 different chemotherapy drugs during a 2- to 3-year period. Occasionally, radiation therapy is given to the brain. After the first month of treatment, the child is usually in "remission"; 99% of the leukemia cells have been killed, and the CBC and the bone marrow look normal. During the next 2 to 3 years of treatment, chemotherapy attempts to kill the remaining 1% of leukemic cells, which are heartier than those initially killed.

For at least 70% of children, the leukemia never reappears, and these children grow up normally. If the leukemia recurs, it is called a "relapse" and is found in the blood and the bone marrow, the spinal fluid, or the testicles. A relapse can occur any time after remission, but it usually is between 18 months and 5 years after the initial diagnosis. A CBC is performed frequently, along with a physical exam, throughout the course of treatment and for many years thereafter to document continued remission or to diagnose a relapse. About 50% of patients who relapse can be cured with either bone marrow transplantation or several more years of intensive therapy.

What are the complications?

Most patients require treatment with antibiotics and transfusions of red blood cells and platelets at diagnosis and during treatment. Once a child is in remission, complications of treatment are from side effects of chemotherapy and not from the leukemia itself. Chemotherapy drugs circulate throughout the entire blood stream and affect normal cells, especially those cells that are dividing rapidly. One common side effect is hair loss, which usually grows back after the first year of treatment. Some side effects can be prevented; most of them are reversible. Occasionally, a child in remission dies from a complication of treatment, usually an overwhelming infection.

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What research is being done?

Randomized clinical trials that aim to improve the cure rate of leukemia are being conducted by the Children's Oncology Group in most children's hospitals in the United States and Canada. Research on leukemic cells is being carried out in many laboratories throughout the world. The purpose of this research is to develop new strategies to treat leukemia; to determine what changes occur in a cell to cause leukemia; and, ultimately, to prevent a child from developing leukemia.

Links to other information

For more information on acute lymphoblastic leukemia, log on to the following Web sites:

References

Lilleyman JS. Childhood Leukemia: The Facts. Oxford, England: Oxford University Press; 1994.

Laszlo J. The Cure of Childhood Leukemia: Into the Age of Miracles. New Brunswick, NJ: Rutgers University Press; 1995.

Albano EA, Stork LC, Greffe BS, Odom LF, Foreman NK. Neoplastic disease. In: Hay W, Hayward A, eds. Current Pediatric Diagnosis and Treatment. Stanford, CT: Appleton & Lange; 1999:774-777.

About the Author

Dr. Stork is an associate professor of pediatrics at the University of Colorado Health Sciences Center and The Children's Hospital in Denver. She earned her undergraduate degree from Yale University and her medical degree from Columbia University. Dr. Stork is actively involved in clinical trials that treat children with acute lymphoblastic leukemia.

Copyright 2012 Linda C. Stork, M.D., All Rights Reserved

Lung Hypoplasia 

What is Lung Hypoplasia?

In general terms lung hypoplasia means under developed lungs. Hypo means small, plasia means formed. The lungs are a vital organ and without them we can not live. The lung is made up of small gas exchange units called alveoli. Alveoli are thin walled structures that are surrounded by small veins and arteries called capillaries. Gas in the alveoli is exchanged with gas in the blood allowing oxygen to be delivered to tissue as a key element for body function and carbon dioxide to be eliminated from the body.

When the lung is hypoplastic the number of alveoli that are available for gas exchange are decreased. If the lungs are very hypoplastic the number of gas exchange units reaches a critically low level and adequate gas exchange can not be maintained. Newborn babies with very hypoplastic lungs die of lung failure in the first few days of life if they cannot be supported long enough to grow more lung.

What Causes Lung Hypoplasia?

The lung begins forming very early in fetal development. Any thing that restricts growth of the chest can cause the lung to be under developed. It is important to distinguish lung hypoplasia from lung immaturity. They are not the same things though, functionally, they have the same effect. Both lead to inadequate gas exchange and lung failure. Babies born prematurely have immature lungs with a developmental normal number of alveoli. The goal in caring for these babies is to support them in a manner that prevents injury to the lung. If injury is avoided these babies can have normal lung development.

In contrast events that impact fetal lung growth may effect future lung growth and may prevent babies with lung hypoplasia from ever developing a normal complement of alveoli.

The most common causes of poor fetal lung growth are: inadequate amniotic fluid, congenital diaphragmatic hernia, hydrops fetalis, certain types of dwarfism, pulmonary agenesis, cystic adenomatous formation, and cystic hydroma. In each of these anomalies, the fetal lung does not grow to its normal size. Inadequate amniotic fluid is most commonly due to early leaking of amniotic fluid due to premature rupture of the membranes that surround the fetus. This is known as oligohydramnios (too little amniotic fluid). If amniotic fluid leaks out from around the baby, the chest wall movement that occurs with fetal breathing may be restricted. Fetal breathing and adequate fluid pressure are both believed vitally important for normal lung development.

The second most common cause for inadequate amniotic fluid is fetal renal anomalies. Amniotic fluid is produced by the amniotic membranes and by the fetal kidneys. Severe abnormalities of the kidneys (eg. polycystic kidneys, hydronephrosis, renal agenesis) can cause too little amniotic fluid to be formed (oligohydramnios) and are commonly associated with lung hypoplasia. Babies with kidney and lung problems have a particularly grave prognosis because they have two organ systems that have failed.

Structural problems in development may also impair lung growth. In babies with congenital diaphragmatic hernia, the diaphragm that separates the lung form the abdomen fails to develop. As a consequence, the intestines move into the chest cavity and restrict lung growth. Similarly, certain types of dwarfism or congenital anomalies of the lung restrict the area in which the lungs can grow normally. While most of these anomalies are rare (1:3000), they are commonly life threatening.

Who Gets It?

    1. Babies born to mothers with prolong rupture of amniotic membranes and oligohydramnios.
    2. Newborns with severe renal anomalies, born to mother with resultant oligohydramnios.
    3. Newborns with certain congenital anomalies

 

    • Congenital diaphragmatic hernia
    • Thanatophoric dwarfism
    • Cystic hydroma
    • Cystic adenomatosis malformation
  1. Newborns with hydrops fetalis
  2. Newborns with neuromuscular diseases

 

How does it cause disease?

Small lungs fail to accomplish normal gas exchange (oxygen in, carbon dioxide out.)

Common Findings

The presentation is variable and dependent on the severity of the hypoplasia. Some babies may present with mild tachypnea (fast breathing) others may have signs of severe respiratory failure: fast breathing, labored breathing, blue color, and gasping.

Diagnosis

The most important factors leading to a diagnosis are: history of fetal anomalies associated with lung hypoplasia, history of mom having too little amniotic fluid, and a chest radiograph showing small lungs.

Treatment

Currently, treatment is primarily supportive. This means that there is currently no available medicine that makes babies grow lungs. So, until lung growth occurs to an extent that the lung can support normal gas exchange, the babies must be supported by artificial means. The main problem is that all modes of artificial respiratory support are associated with lung injury. The trick is to support normal gas exchange without causing injury and to support good nutrition so that the lung can grow. Babies have an incredible capacity to grow and develop. In time, if the lung is not too underdeveloped the baby can usually wean off artificial support and go home. Therapies used to support gas exchange in order of level of support are: oxygen, assisted ventilation, high frequency ventilation, and extracorporeal membrane oxygenation (ECMO).

Prevention

There are no methods for preventing babies with certain anomalies from developing lung hypoplasia. Research is currently focused on maintaining normal amniotic fluid and pressure and prevention of restriction of lung growth. Investigators are also looking at factors that promote normal lung growth. The hope is that neonates with lung hypoplasia might be treated with lung growth factors that would promote growth of normal lung, reduce the need for artificial support and its attendant propensity to cause injury and allow for a healthier life.

About the Author

Dr. Clark, a leading clinical researcher for the care of critically ill newborns, is the Director of Research for Pediatrix Medical Group, Inc. and a Consulting Associate Professor at Duke University.

A native of North Carolina, Dr. Clark earned both his Bachelor of Arts and medical degrees from the University of North Carolina at Chapel Hill. He completed his pediatrics residency and his neonatal fellowship at Wilford Hall United States Air Forces Medical Center. He is a board-certified pediatrician and neonatologist.

Copyright 2012 Reese H. Clark, M.D., All Rights Reserved

Lyme Disease 

What is Lyme Disease?

Lyme Disease is an infectious illness that has different manifestations depending on the stage of the illness (i.e., early localized disease, early disseminated disease, and late disease).

What causes Lyme Disease?

A type of bacteria called a spirochete, which is named Borrelia burgdorferi, causes Lyme Disease. The bacteria is transmitted by ticks of the Ixodid species; in the United States, this is usually Ixodes scapularis, which is also known by its common name, the deer tick.

Who gets Lyme Disease?

Lyme Disease occurs most commonly in areas where deer ticks are abundant and where the proportion of ticks that are infected with the bacteria that cause Lyme Disease is high (20% to 50%)-southern New England, southeastern New York, New Jersey, eastern Pennsylvania, eastern Maryland, Delaware, and parts of Minnesota and Wisconsin. The majority (greater than 75%) of the reported cases occurs in a small number of counties (less than 70) in these endemic areas.

Lyme Disease is uncommon in the Pacific states because, although the tick found there-Ixodes pacificus (the Western black-legged tick)-can transmit B. burgdorferi, few of these ticks are infected with the bacteria. People with increased occupational, recreational, or residential exposure to tick-infested woodlands and fields (the preferred habitat of ticks) in endemic areas are at an increased risk of developing Lyme Disease.

There are a number of factors associated with the risk of transmission of B. burgdorferi from ticks to humans. First, a tick has to be infected to be able to transmit the organism. The proportion of infected ticks varies greatly both by the geographic area and by the stage of the tick in its life cycle. Even in areas with the highest incidence of Lyme Disease, only about 20% to 30% of nymphal-stage ticks (the stage most likely to cause Lyme Disease) are infected.

Lyme Disease develops after an infected tick inoculates bacteria into the skin of its human victim. The risk of transmission of the bacteria from infected deer ticks is related to the duration of feeding. It takes hours for the mouth parts of ticks to implant fully, and much longer (days) for the tick to become fully engorged.

Experiments with animals have shown that nymphal-stage ticks must feed for 48 hours or longer, and adult ticks must feed for 72 hours or longer, before the risk of transmission of B. burgdorferi from infected ticks becomes substantial. The duration of time that a tick has fed can be estimated from measures of engorgement derived from experiments with animals.

Based on these studies, there is evidence that approximately 75% of persons who recognize that they have been bitten by a deer tick remove the tick less than 48 hours after it has begun to feed. Indeed, the majority of persons who develop Lyme Disease do not recall a tick bite. Unrecognized tick bites probably are associated with a greater risk, since unrecognized ticks may feed longer.

How do the bacteria cause disease?

The bacteria cause inflammation in the tissues that are infected. First, the inflammation usually causes a rash in the skin (known as erythema migrans) at the site of the tick bite. The bacteria may then enter the bloodstream and spread to other sites, which include other parts of the skin, the nervous system, and the heart. The bacteria may also infect the joints and cause inflammation that leads to arthritis. Rarely, but particularly in people who have a certain genetic predisposition, an autoimmune inflammatory process may develop in the joint so that inflammation continues even after the bacteria are killed by antibiotic treatment.

What are the common findings?

By far, the most common manifestation of Lyme Disease is the characteristic reddish rash, erythema migrans, which usually develops 7 to 14 days (and up to as many as 30 days) after the tick bite. This rash occurs in approximately 90% of children with Lyme Disease. It is a circular (or oblong) rash that increases in size over time, sometimes growing to as much as a foot or more in diameter. Although central clearing may occur (causing a characteristic "bull's eye" appearance), it is probably even more common for the rash to be uniformly red. Fungal infections of the skin ("ringworm"), insect bites, and circular or "nummular" eczema rashes commonly are confused with erythema migrans.

Erythema Migrans

Approximately one-quarter of the children with erythema migrans will have multiple erythema migrans, which is a sign that the bacteria have spread through the bloodstream and "seeded" other sites in the skin. The "secondary" rashes are usually smaller than the primary rash, and fever; pains in the muscles, joints, or neck; headache; and/or fatigue often accompany them. Multiple erythema migrans is a manifestation of "early disseminated" Lyme Disease.

Another finding in the "early disseminated" stage of the disease is paralysis of the facial nerve. Rarely, patients may have meningitis or arrhythmia of the heart.

The common manifestation of late Lyme Disease is arthritis. The knee is usually affected (greater than 90% of the cases), but any joint may be involved. Although the joint is swollen, it may be either very painful or it may be associated with relatively little pain, and the patient sometimes is able to pursue most normal activities with little impairment. Fever and other signs, such as headache or fatigue, may or may not be present.

It is important to realize that although patients with Lyme Disease often have non-specific symptoms, such as headache, fever, fatigue, or muscle pain, these symptoms are virtually always accompanied by specific signs of Lyme Disease, such as the characteristic rash, facial palsy, or a swollen knee. These non-specific symptoms, when present without more specific signs of Lyme Disease, are virtually never caused by Lyme Disease.

How is Lyme Disease diagnosed?

The most common sign of Lyme Disease-the erythema migrans rash-is usually diagnosed based on its typical appearance; the history of possible exposure to ticks; and the fact that it enlarges over time, if untreated.

Tests for antibodies are not appropriate in persons with a single erythema migrans rash because they usually are negative at this early stage of the illness. By contrast, if the rash is not present, but other signs, such as facial palsy or a swollen knee, are present (and the clinical and epidemiologic history is consistent with Lyme Disease), antibody tests usually are used to diagnose the illness.

It is of critical importance to realize that, because false-positive tests are common, tests for antibodies against B. burgdorferi should not be used as a "screening test" for persons with only non-specific symptoms, such as fatigue, muscle or joint pain, or a headache. Use of the antibody tests for Lyme Disease in such situations has resulted in a very high frequency of misdiagnosis of Lyme Disease, and it has helped to perpetuate the myth that Lyme Disease is difficult to diagnose and to treat.

How is Lyme Disease treated?

An antibiotic administered by mouth (usually doxycycline or amoxicillin) is very effective in treating Lyme Disease. Occasionally, an antibiotic (usually ceftriaxone or penicillin) is given intravenously to treat infection of the central nervous system, such as meningitis, or in the rare instances in which arthritis does not respond to one or two courses of oral treatment.

What are the complications?

Complications are very rare. The most common cause of failure to respond to treatment is misdiagnosis, that is, the patient either does not have (and never did have) Lyme Disease, or the patient had Lyme Disease in the past, and the current symptoms are unrelated to the previous Lyme Disease. Very rarely, facial palsy may persist (usually only to a very mild degree). Very rarely, an autoimmune arthritis that does not respond to antimicrobial treatment and that is not related to persistence of bacteria may develop in persons with a genetic susceptibility to this problem, especially when antibiotic treatment has been delayed.

Chronic inflammation of the central nervous system with memory loss has been reported as a rare complication in adults for whom treatment was delayed for a long time (often not until years after the presumed time of the infection). Congenital Lyme Disease (transmission from a pregnant woman to her child) has not been documented; likewise, transmission of Lyme Disease via breastfeeding has not been shown to occur.

Links to additional information

There are many Internet sites that provide information about Lyme Disease; however, many are not supported by scientifically sound data, including many sites controlled by "patient-advocate" groups or individuals. One worthwhile site is that of the American Lyme Disease Foundation at www.aldf.com. Information also is available through the Web site of the Centers for Disease Control at www.cdc.gov/ncidod/dvbid/lyme/.

About the Author

Dr. Shapiro trained at the UCSF School of Medicine, Children's Hospital of Pittsburgh, and the Yale School of Medicine, where he is currently a Professor of Pediatrics and of Epidemiology and Public Health.

He has conducted numerous research studies of Lyme Disease, the efficacy of vaccines, and bacteremia in children.

Copyright 2012 Eugene D. Shapiro, M.D., All Rights Reserved

Lymphadenopathy 

What are swollen glands?

The lumps that you feel in your neck or under your jaw when you have a cold or a sore throat are called lymph nodes. Lymph nodes are part of the body's immune system. They help to destroy infectious germs, such as viruses (e.g., the common cold virus) and bacteria (e.g., strep). The lymph nodes make antibodies that will help keep you from being infected with a particular germ in the future.

Lymph nodes are located in the areas beside the head and the neck region. They can be found in the armpits, the groin, above the elbow, and deep inside the chest and the abdomen (belly). Their function is the same regardless of their location.

What causes enlarged lymph nodes?

When lymph nodes are active in fighting infection, they may become swollen and painful. Usually, the pain is mild, and the lymph node does not get much bigger than 2 centimeters (slightly under 1 inch) in size.

While lymph nodes are the most common cause of a lump or a bump in the neck, there are other, much less common causes, e.g., cysts from abnormalities of fetal development or thyroid gland enlargement. Usually, us can tell the difference on a physical examination.

Who gets enlarged lymph nodes?

Frequently, children have enlarged lymph nodes. The immune system of a child is constantly being exposed to germs that it has never seen before, and the lymph nodes may swell in reacting to those germs. In contrast, the immune system of an adult has seen most of the common germs, and has developed immunity to them.

Therefore, the lymph glands do not need to work so hard, and they are much less likely to become swollen. In fact, a study published in 1975 showed that 100% of children who are under 12 years of age had lymph nodes that could be felt in the neck.

What are the common findings?

In children, once a lymph node becomes enlarged, it may stay enlarged for a long time. Sometimes, several lymph nodes can become enlarged at the same time. Usually, the lymph node will begin to decrease in size within two to three weeks, but a little bump (less than 1 centimeter, or 1/4 to 1/2 inches, in size) may be present for months.

However, lymph nodes should not continue to grow in size (especially grow greater than 1 inch in diameter). If they do, you should contact us. Your doctor may want to measure the lymph node and record the findings in your chart for accurate comparison on your next examination.

Typically, a fever accompanies enlarged nodes when it is part of an infectious process. You also may have a sore throat, enlarged tonsils, an earache, a dental problem, or skin irritation or infection. Often, the problem that caused the swollen gland will bring you to us and not the swollen lymph node.

How is an enlarged lymph node diagnosed?

Generally, enlarged lymph nodes are evaluated by a physical examination. Your doctor will note:

  • the size and the location of the enlarged lymph node;
  • if one or more lymph nodes are involved;
  • if the node is tender
  • if it is associated with redness of the overlying skin; and
  • how it feels, e.g., soft, firm, rubbery, or hard.

Your doctor will examine the areas that the lymph node drains. For example, a lymph node under the jaw should prompt a careful examination of the mouth and the throat. Your doctor also will look for abnormalities that often are seen with enlarged lymph nodes, such as a skin rash or a swollen liver and/or spleen.

Enlarged lymph nodes that grow progressively or are very large in size (generally more than 3 centimeters, or 1 1/4 inches) may require more extensive evaluations, to include a blood count; blood tests for infections, e.g., mono; a skin test for TB; or an x-ray. This is particularly true if you have been losing weight, have joint pain or swelling, have persistent fevers and/or night sweats, or have other abnormalities that are found on a physical examination.

How is an enlarged lymph node treated?

Sometimes, an enlarged lymph node needs no treatment at all, particularly if it is enlarged because it is fighting a viral infection. Occasionally, antibiotics will be prescribed if the lymph node is infected with a bacterial germ or is enlarged due to a bacterial infection (e.g., strep throat). If the lymph node tenderness is a problem, acetaminophen or ibuprofen can be taken to ease the discomfort.

Although steroids (prednisone) will cause the lymph nodes to decrease in size, regardless of the cause of the enlargement, it is strongly discouraged because it could mask a serious underlying cause of the enlarged nodes, delay the correct diagnosis, and, possibly, complicate the treatment.

Rarely, us may recommend surgery to remove the lymph node so that it can be examined under the microscope for the presence of cancer or unusual infections. Usually, a course of antibiotics is administered first, before surgery is recommended. However, surgery is most likely to happen if:

  • the lymph node is large (greater than 3 centimeters, or 1 1/4 inches);
  • there are other abnormal physical examination findings, e.g., an enlarged liver and/or spleen;
  • the blood count is abnormal; or
  • the chest x-ray shows enlarged nodes.

Most people worry that a persistently enlarged lymph node is something very serious, like cancer. In children, this is rare. Even if us recommends a lymph node biopsy, it is not very likely to show cancer. In fact, in one study of 239 children who underwent lymph node biopsy, only 13% of the removed lymph nodes showed cancer.

What are the complications?

The lymph node itself may become infected (called lymphadenitis), which can be very painful, and is associated with redness and swelling. Usually, it requires antibiotics for treatment. Infrequently, the lymph node may have a pus pocket inside of it (i.e., an abscess) that requires an operation to drain it.

An enlarged lymph node that is felt immediately above the collarbone is unusual and seldom is associated with infection. If it occurs, you should contact us, as it may be a sign of a more serious condition. For example, in teenagers, swollen glands felt right above the collarbone could be the first sign of Hodgkin's disease, a type of cancer that occurs in the lymph nodes.

How can enlarged lymph nodes be prevented?

Enlarged lymph nodes cannot be prevented. The lymph node helps the body to fight infection, and, in the process, the lymph gland may increase in size. This is normal. The lymph tissue decreases in size after puberty, and it becomes less noticeable. However, you should contact us if:

  • the lymph nodes are larger than 3 centimeters, or 1 1/4 inches;
  • there are signs or symptoms of an infection, such as a sore throat, a fever, or an earache;
  • the lymph nodes are felt above the collarbone, regardless of their size; or
  • you have persistently enlarged nodes, lasting three or more weeks.

About the Author

Dr. Albano is a board certified pediatric hematologist/oncologist.

She graduated summa cum laude from Loyola University, Stritch School of Medicine and did both her pediatric residency as well as hematology/oncology fellowship at The Children's Hospital National Medical Center in Washington, DC.

Besides a full time practice in clinical oncology, Dr. Albano is actively involved in research in infections that occur in immunocompromised patients and their treatment.

Copyright 2012 Edythe A. Albano, M.D., All Rights Reserved

Measles 

What is measles?

Measles, also commonly known as "rubeola," is a viral infection that is characterized primarily by a fever, a cough, a runny nose, red eyes, a rash, and spots inside the mouth.

What causes measles?

The measles virus, an RNA virus of the paramyxovirus family of viruses, causes measles.

Who gets measles?

Measles was an important disease that occurred in almost all children before the introduction of the measles vaccine. Measles is highly contagious, and, historically, it has caused large outbreaks. Prior to the use of the measles vaccine, which was introduced in 1963, more than 500,000 cases of measles were reported each year in the United States. The disease is now very uncommon. In 1998, only approximately 100 cases were reported in the United States.

Today, measles is usually seen only in those persons who have not received the vaccine, typically, in children one to four years of age. Most cases in the United States have occurred in inner city or isolated rural areas, where poverty is common and access to health care, including measles vaccination, is difficult, or in persons traveling to or visiting from other countries.

How does the measles virus cause disease?

The measles virus is transmitted from person-to-person by direct contact or by contaminated secretions of the nose and the mouth. The measles virus infects the lining of the nose and the upper respiratory tract. Then, it is spread through the blood throughout the body, which causes the rash. In the lungs, the measles virus infection can cause pneumonia, which can be severe and life threatening, especially in infants.

What are the common findings?

Measles can be divided into four phases: 1) the incubation phase, 2) the prodromal (catarrhal) phase, 3) the rash phase, and 4) the recovery phase.

The incubation phase typically lasts 8 to 12 days after exposure to the virus and does not have any symptoms. The prodromal phase begins at the onset of the first symptoms, which begin gradually and include a fever, a cough, a runny nose, and red eyes. Usually, the fever is the first symptom noticed by parents. The fever rises steadily and may reach maximum temperatures of 103F to 104F. At the height of the fever, the rash develops.

The runny nose with a profuse watery discharge, nasal congestion, and sneezing becomes prominent. Typically, there is a pronounced cough, which is hoarse, dry, and hacking. Some children may complain of tightening in the chest. The red eyes are characterized by increased tearing, eye pain that may be severe, and sensitivity to light. Other symptoms that are frequently observed during the prodromal phase include fatigue, irritability, a decreased appetite, a headache, abdominal pain, and a dry mouth and throat.

Approximately two to four days after the onset of the symptoms, the rash appears, marking the beginning of the rash phase. The symptoms of the prodromal phase worsen with the onset of the rash, but then begin to decrease in severity. The measles rash is a flat or slightly raised rash, and is not itchy. It first appears as irregular spots on the upper forehead or behind the ears and on the neck. Within 24 hours, it progresses to the entire face, head, and neck. Over the next two to four days, the rash extends to the chest, back, and extremities, including the palms of the hands and the soles of the feet. It remains most prominent on the face, especially on the cheeks.

After four to five days, the rash begins to subside, marking the beginning of the recovery phase. Sometimes, a very fine flaking of the skin is noted as the rash fades. About 10 to 14 days after developing the rash, the child is back to a normal level of activity.

One of the characteristic findings of measles is the presence of spots, known as "Koplik spots," inside the mouth. These tiny pinpoint blue-white spots begin as a few lesions on the inside of the cheeks, typically occurring 1 to 2 days before the rash, and increase rapidly in number over the next 24 hours. They begin to fade as the rash appears, and usually disappear by the second day of the rash.

How is measles diagnosed?

Measles is diagnosed primarily on the clinical and physical examination findings. The appearance of the rash is characteristic, and when found in association with Koplik spots inside the mouth, an experienced physician can diagnose measles. There also is a specific antibody blood test that can be used to confirm the diagnosis.

How is measles treated?

There is no specific treatment for measles. Antibiotics are not helpful because a virus causes measles. Viruses cannot be treated with antibiotics. The disease is usually mild with complete recovery. Some children, especially infants and young children, require hospitalization for intravenous fluids and occasionally because of severe pneumonia. The fever should be treated with acetaminophen or ibuprofen.

Severe measles has been associated with very low levels of vitamin A. In developing countries, vitamin A supplements appear to improve the course of measles, especially in children younger than two years of age. In the United States, the American Academy of Pediatrics recommends vitamin A supplements for certain children with measles who are not already receiving additional daily vitamin A. Children who might need additional vitamin A include those with:

  • Immunodeficiency
  • Signs of vitamin A deficiency, such as night blindness or dry eyes
  • Impaired gastrointestinal absorption
  • Moderate to severe malnutrition
  • Recent immigration from an area of increased problems with measles
  • Hospitalization with measles or its complications

For these children, a single dose of vitamin A (100,000 IU for infants, 6 months to 1 year of age; 200,000 IU for older children) is given at the time that measles is diagnosed. Excess vitamin A can be dangerous for the developing fetus of pregnant women.

What are the complications?

The most frequent complications of measles are diarrhea, middle ear infection ("bacterial otitis media"), bacterial pneumonia, and inflammation of the brain ("encephalitis"). Diarrhea is the most common complication of measles in the United States, and it occurs in approximately 10% of children who develop measles. The diarrhea usually begins after the rash appears, lasts for only a few days, and usually does not require hospitalization for intravenous fluids. Otitis media occurs in approximately 5% to 15% of children with measles, and usually begins during the second week of illness after the rash has faded.

Pneumonia is one of the most serious complications of measles, and it can be caused either by the measles virus itself or by bacteria that cause additional infection during the course of measles. Children who have an immunodeficiency are at a particularly high risk for pneumonia with measles.

Acute encephalitis (inflammation of the brain) is an uncommon complication of measles and occurs in approximately 1 to 2 of every 1,000 cases of measles. It is a more serious complication because it can be very severe and can lead to death.

Subacute sclerosing panencephalitis (SSPE) is a very rare, but fatal, form of degenerative encephalitis (inflammation of the brain) that develops an average of 8 to 10 years after a typical case of measles. SSPE occurs in approximately one out of every one million persons with measles. The onset is usually very gradual, but results in behavioral changes and impairment of intellectual function, leading to seizures, coma, and death in a few years. Patients with SSPE are not contagious. SSPE has been very uncommon in the United States since the initiation of the routine measles immunization.

How can measles be prevented?

Measles is effectively prevented by the routine administration of the measles vaccine, usually given as Measles-Mumps-Rubella (MMR) vaccines to all children. This vaccine is recommended beginning at 12 months of age. A single dose of the measles vaccine results in protection of approximately 95% of children. To ensure that all children are immunized, a second dose of MMR is recommended at four to six years of age; however, it can be given to children at any age as soon as one month after the first dose.

Many states require two doses of the measles vaccine for school entry, and many colleges and universities require evidence of two doses of the measles vaccine for admission. It is not a problem if an additional dose of the measles vaccine is given in addition to the two recommended doses.

The spread of measles can be prevented by minimizing exposure to children who have symptoms of the disease, and by good handwashing after exposure to the disease.

What research is being done?

Because measles is now extremely uncommon, and because the vaccine is extremely safe and effective in preventing measles, there is not much research on measles currently being conducted. There is some research being performed on the long-term immunity of the measles vaccine to confirm that it does provide lifelong immunity.

About the Authors

 

Hal Jenson, M.D.

Dr. Jenson graduated from George Washington University School of Medicine in Washington, DC.

He also completed a residency in pediatrics at the Rainbow Babies and Children's Hospital of Case Western Reserve University in Cleveland, Ohio, and a fellowship in pediatric infectious diseases and epidemiology at Yale University School of Medicine.

Dr. Jenson has an active research program on the biology of Epstein-Barr virus and other human and non-human primate herpes viruses.

He is active in the general pediatric and infectious diseases teaching and clinical activities of his Department and Division, is a co-editor of Nelson Textbook of Pediatrics and of Pediatric Infectious Diseases: Principles and Practice, and authors the book Pocket Guide to Vaccination and Prophylaxis.

Charles T. Leach, M.D.

Dr. Leach received his medical degree at the University of Utah School of Medicine and completed his pediatrics residency as well as a fellowship in pediatric infectious diseases at UCLA.

He is currently Associate Professor and Director of Research in the Department of Pediatrics at the University of Texas Health Science Center at San Antonio.

Dr. Leach conducts scientific research in the areas of herpes virus infections, pediatric AIDS, and infectious diseases among residents of the Texas-Mexico border.

Copyright 2012 Hal B. Jenson, M.D., All Rights Reserved

MMR Immunization 

Read more about this here.

Mumps 

What is mumps?

Mumps, historically known as "epidemic parotitis," is an acute illness that is characterized primarily by fever and swelling of the salivary glands.

What causes mumps?

The mumps virus, an RNA virus of the paramyxovirus family of viruses, causes mumps.

Who gets mumps?

Mumps, which is extremely common in the rest of the world, is now very uncommon in the United States. Prior to the introduction of the vaccine in 1967, there were more than 150,000 reported cases each year in the United States. Since the routine immunization of children with the mumps vaccine, the occurrence of mumps is very low. In 1998, there were only 606 cases reported in the United States.

Mumps is highly contagious, and it has historically caused large outbreaks. Today, mumps is usually seen in persons who have not received the vaccine.

How does the mumps virus cause disease?

The mumps virus is transmitted from person-to-person by direct contact or by contaminated secretions of the nose and the mouth. Mumps causes an infection in the salivary glands and in the lining of the mouth. It then spreads throughout the body, and, sometimes, it causes inflammation in other glands of the body, including the testes in males and the ovaries in females.

What are the common findings?

After an incubation period of usually 12 to 25 days, the first sign of illness is usually a fever. Swelling and tenderness of the parotid salivary glands ("parotitis") occasionally develop within a day after the onset of the fever. Fatigue, poor appetite, abdominal pain, and headache may accompany these symptoms. The parotid gland, the largest of the salivary glands, is found at the angle of the jaw. Parotid swelling with mumps is usually visible, and it is accompanied by tenderness to touch, but without any overlying redness. Normally, the parotid gland cannot be felt, but it can be felt if mumps parotitis is present. Patients who develop parotitis may have tender salivary glands, with the greatest symptoms after 1 to 3 days, and then the symptoms gradually subside after about 6 to 10 days.

Approximately 30% of post-pubertal males with the mumps infection develop inflammation of the testes ("orchitis"). Approximately 5% of post-pubertal females occasionally develop inflamed ovaries ("oophoritis").

Mumps can cause viral meningitis that is usually mild and resolves with complete recovery in three to four days.

How is mumps diagnosed?

Mumps usually is diagnosed on the basis of fever and the finding of parotid gland swelling. There is a specific antibody test for mumps that can be used to confirm the infection, but this requires obtaining blood at two time points, two to four weeks apart, to test for the development of mumps antibodies.

How is mumps treated?

There is no specific treatment for mumps. Antibiotics are not helpful because a virus causes mumps. The disease usually is mild with complete recovery. Some children may require hospitalization for intravenous fluids. Fever and pain should be treated with acetaminophen or ibuprofen. Bed rest and pain medications may be necessary for orchitis until the symptoms resolve, which is usually within several days, but, occasionally, may persist for two to three weeks.

What are the complications?

The possibility of mumps orchitis causes unnecessary anxiety in many men concerned about testicular atrophy and sterility. However, most cases of mumps orchitis involve only one testicle that does not lead to sterility. Sterility from mumps is rare even when both testicles are involved. Some degree of testicular shrinkage may be detectable after the mumps infection; however, it does not cause sterility. Impotence does not result from mumps.

How can mumps be prevented?

Mumps is effectively prevented by the routine administration of the mumps vaccine, usually given as Measles-Mumps-Rubella (MMR) vaccines to all children, which is recommended beginning at 12 months of age. A single dose of the mumps vaccine results in protection of approximately 95% of children. A second dose of MMR is recommended at four to six years of age. It is not a problem if another dose of the mumps vaccine is given in addition to the two recommended doses.

The spread of mumps can be prevented by minimizing exposure to children who have symptoms of the disease, and by good handwashing after exposure to the disease.

What research is being done?

Because mumps is now extremely uncommon, and because the vaccine is extremely safe and effective in preventing mumps, there is not much research currently being performed on this disease. There is some research being performed on the long-term immunity of the mumps vaccine to confirm that it does provide lifelong immunity.

About the Authors

Hal Jenson, M.D.

Dr. Jenson graduated from George Washington University School of Medicine in Washington, DC.

He also completed a residency in pediatrics at the Rainbow Babies and Children's Hospital of Case Western Reserve University in Cleveland, Ohio, and a fellowship in pediatric infectious diseases and epidemiology at Yale University School of Medicine.

Dr. Jenson has an active research program on the biology of Epstein-Barr virus and other human and non-human primate herpes viruses.

He is active in the general pediatric and infectious diseases teaching and clinical activities of his Department and Division, is a co-editor of Nelson Textbook of Pediatrics and of Pediatric Infectious Diseases: Principles and Practice, and authors the book Pocket Guide to Vaccination and Prophylaxis.

Charles T. Leach, M.D.

Dr. Leach received his medical degree at the University of Utah School of Medicine and completed his pediatrics residency as well as a fellowship in pediatric infectious diseases at UCLA.

He is currently Associate Professor and Director of Research in the Department of Pediatrics at the University of Texas Health Science Center at San Antonio.

Dr. Leach conducts scientific research in the areas of herpes virus infections, pediatric AIDS, and infectious diseases among residents of the Texas-Mexico border.

Copyright 2012 Hal B. Jenson, M.D., All Rights Reserved

Obesity in Childhood 

How is obesity defined?

Obesity relates to excess body fat. In adults, body mass index (BMI) is used to define obesity. BMI is calculated by dividing one's weight in kilograms by one's height in meters squared (kg/m2). BMI is used because it provides a reasonable estimate of adiposity (body fatness), and it relates to adverse health outcomes. Obesity in adults is defined as a BMI greater than 30 because a BMI greater than 30 is associated with an increased risk of medical problems.

In children, the medical side effects of obesity often are not readily apparent. Consequently, deciding how to define obesity in childhood has been somewhat difficult. The International Task Force on Obesity recently suggested that BMI should be used to screen for childhood obesity. BMI in children has been shown to correlate with such complications as high blood pressure, high cholesterol, diabetes, and persistence of obesity into adulthood.

The specific BMI cutoff points have not yet been established, but it will probably approximate the 85th and the 95th percentiles. For example, children who have a BMI greater than the 95th percentile for their age and their gender are considered obese (see Figure). Children who have a BMI between the 85th and the 95th percentiles are also overweight but are not defined as obese until they are greater than the 95% percentile.

What are the causes of childhood obesity?

There are very few medical causes of obesity in childhood. Hormonal abnormalities that lead to increased weight gain in children typically are associated with short stature or poor height growth. Examples of such conditions include hypothyroidism, Cushing's syndrome, or growth hormone deficiency. Consequently, an overweight child who has normal height growth is unlikely to have one of these hormonal abnormalities.

There are several genetic syndromes that are associated with obesity; however, these conditions generally have short stature as a coexisting finding. Additionally, developmental delays and unusual physical features commonly are part of these syndromes. A doctor can rule out the majority of syndromes and hormonal disorders by performing a careful history and a physical examination. Occasionally, blood tests or radiological examinations are performed as part of an evaluation.

The majority of obese children do not have a recognizable syndrome or a hormonal abnormality. Therefore, to understand the various proposed causes of weight gain in children, one should be familiar with the following energy balance equation:

Energy Stored = Energy Intake - Energy Expenditure

Energy stored equates to weight gain, and energy intake is calories consumed from food and beverages. Energy expenditure is composed primarily of one's basal metabolic rate (the number of calories expended just to lie still and the major component of total energy expenditure) and energy expended for activity.

Consequently, if one's energy intake exceeds energy expenditure, weight gain occurs. An individual gains 1 pound of weight for approximately every 3,500 excess calories. Consequently, an extra 10 ounces of juice or can of soft drink (at 150 calories each) every day would amount to a weight gain of 15 pounds per year.

Most individuals regulate their body weight so precisely that it only fluctuates by about one-half pound per year. This is because each person has his/her own "set point" for body weight, and various metabolic pathways in the body defend this set point. Changes in appetite and metabolic rate occur in response to weight gain or loss, thereby "driving" weight back to its "set point."

For example, overweight individuals who lose weight may have lower resting metabolic rates than lean individuals, so they would need to eat less to maintain their reduced weight. This may be one reason why diets have such a high failure rate.

Children who have overweight parents are more likely to be overweight themselves. This observation suggests that individuals can inherit certain genes that make them susceptible for weight gain. Studies indicate that genetic factors determine up to 75% of our body weight. Thus, an individual who inherits a low basal metabolic rate may be susceptible to increased weight gain. Genes also may affect energy intake by determining specific feeding behaviors and food preferences.

Given that the genes in our population have not dramatically changed over the past several decades, genetic factors alone cannot explain the rise in obesity. Rather, it is the interaction between a genetic predisposition and an environment that is conducive to weight gain. Our technically advanced society-boasting energy-saving devices and convenient, high calorie foods-has led to changes in both activity and eating patterns.

People have increased their dining at restaurants, visiting of fast-food chains, and buying of prepared grocery items. Meals at restaurants tend to be very caloric because they are served in large portions, and they are high in fat and calories (see Table). We are led to believe that super sizes are a great deal because of the financial discount; however, they are not such a great deal in regard to the gain in calories.

Table. Approximate Calorie Content of Fast-Food Items
Double cheeseburger 600
Chicken nuggets (6 pieces) 290
Small french fries 250
Chicken sandwich 500
Chocolate Shake (12 oz.) 440
Pepperoni pizza (2 slices) 500

Additionally, most schools serve lunches that are high in fat and include choices from fast-food chains. Currently, there is no evidence that children are born with a preference for high fat foods. Rather, experts believe that liking certain foods is learned through repeated experiences with such foods. Observing what and how their parents eat also may shape children's food preferences. Parents are role models; consequently, if they like to eat high fat food, their children will likely do the same.

Spontaneous, as well as intentional, physical activity has decreased in children. Participation in school physical education classes has declined significantly; a recent survey indicated that approximately 50% of high school students were not enrolled in regular physical education classes. Children also are spending their time out of school in sedentary activities, such as watching television and playing computer games.

Several cross-sectional studies report a direct association between the amount of television watched to the degree of childhood obesity. Watching television not only limits the time for exercise and vigorous activity, but also encourages snacking and consumption of high fat foods through advertisements. Parental concerns over safety also may contribute to decreased activity in children, as their neighborhoods may not be perceived safe enough to play outside.

Lastly, children of non-active parents tend to be less active themselves. Consequently, like the modeling of eating patterns, parents may be modeling sedentary activities and reliance on labor-saving devices. The positive aspect of these environmental factors is that they are, unlike genetic factors, modifiable.

What are the complications of childhood obesity?

Although the majority of weight-related problems are not seen until later on in life, an overweight child may have complications that are evident. It is important for an obese child to be evaluated for the potential consequences outlined below.

Cardiovascular Disease - Many children who are overweight have elevated blood pressures (hypertension), high cholesterol, and high triglycerides. These conditions are more likely to be seen in an overweight child whose family history is positive for cardiovascular disease, hypertension, or high cholesterol.

Endocrine - Although there is rarely an endocrine cause of obesity in childhood, there are several endocrine side effects. Overweight children often have accelerated height growth; therefore, during childhood, they are tall compared to their peers. This growth acceleration appears to be a normal result of over-nutrition, and it is actually a reassuring finding, as it eliminates the majority of pathologic causes of obesity. The timing of puberty may occur on the early side in overweight children.

Adolescent girls who are overweight may experience menstrual irregularities, including infrequent or absent periods. Many young women who have polycystic ovarian syndrome are overweight. Irregular menstrual periods, acne, and/or excess body hair characterize this disorder. Lastly, many overweight children have evidence of insulin resistance. Insulin is a hormone produced by the pancreas, permitting glucose to be transported from the blood to the cells of the body.

Insulin resistance can contribute to high cholesterol and triglyceride levels. Overweight children who have insulin resistance have an increased incidence of developing diabetes mellitus in adolescence, especially when there is a family history of diabetes. In many individuals, thickening and darkening of the skin (called acanthosis nigricans) in such areas as the neck, the underarms, and the elbows are signs of insulin resistance.

Orthopedic - Because of the extra weight that they must carry, overweight children are at an increased risk for orthopedic problems. Children may complain of leg and ankle pain that is due to stresses in the joints. In younger children, bowing of the legs may occur.

Gastrointestinal - Obesity in children can lead to fatty deposits in the liver. Although this rarely causes any health problems, there can be scarring and damage to the liver in severe cases. Gallstones also are associated with obesity; however, the incidence of this complication is much higher in obese adults.

Pulmonary - Overweight children may have obstructive sleep apnea, a condition that occurs when there is an obstruction in the upper airway, making breathing difficult during sleep. In overweight children, the obstruction may be due to fat deposits in the walls of the upper airway and by the increased work of breathing that results from fat in the abdomen and the chest. Obstructive sleep apnea may impair learning and memory function in children. It also can cause excess daytime sleepiness, which may lead to an increase in sedentary activity and further weight gain.

Psychological - The greatest costs of childhood obesity may be psychological. Young children may be teased because of their weight, and they may have difficulty making friends. Because they tend to be taller, obese children may be perceived as being older than they really are and may have unrealistic expectations placed on them. Self-concept may be low in an overweight child, especially during adolescence. How a child deals with these negative attitudes is in part related to how their parents feel about him/her. If parents accept their child regardless of his/her weight and focus on positive attributes, their child is more likely to have a positive self-concept.

Persistence - Although not an immediate consequence, the risk of childhood obesity persisting into adulthood is important, as there are serious medical complications associated with being an overweight adult. The risk persistence depends on the child's age, gender, and degree of overweight. Studies indicate that 25% of overweight preschool children versus 80% of overweight adolescents will become obese adults. Adolescent girls, in particular, appear to have a greater risk than boys. Additionally, the more overweight a child is at any age, the likelihood of obesity persisting into adulthood is higher.

How is childhood obesity evaluated and treated?

An overweight child should be evaluated to determine if there is a pathologic cause for his/her weight gain and if there are any weight-related health problems. A primary care doctor should begin this evaluation, and he/she will decide if laboratory tests and/or a referral to a specialist are indicated. Treatment of obesity depends on the age of the child, the degree that the child is overweight, and the family's or the child's willingness to change. A successful treatment plan includes dietary, physical activity, and behavior modification components. It is important that all family members are involved and are willing to make necessary changes themselves.

Treatment can be implemented through a primary care doctor or a structured weight control program. Initial goals should be small, so that the family and the child are not overwhelmed or discouraged. In a moderately overweight or very young child, weight maintenance, rather than weight loss, may be the goal, as the child is growing in height and thus may "grow into" a more normal BMI.

Dietary - Diets that focus on eliminating specific nutrients have not been studied extensively in children. Consequently, it is recommended that changes be made in a step-wise manner to decrease the fat and the calorie content of the diet. A nutritionist often is helpful in evaluating a child's eating patterns and in educating families how to make healthy low calorie choices. A child's diet should be analyzed, with particular attention to the amount of juice and soft drink consumption, frequency of eating outside the home, school lunches, portion sizes, and snacking.

Juice and soft drinks alone can account for a significant amount of extra calories each day. For young children, it is the parents' responsibility to determine when and how many times a child eats and what food is offered. The child's responsibility is to decide how much he/she wants to eat (within reason). If the child does not like what is offered, the parents' job is not to find something the child will eat. "Short order cooking" does not encourage children to learn about new foods, such as fruits and vegetables.

Activity - Exercise, in addition to dietary changes, is recommended for optimal weight management. The most important factor in choosing an activity or an exercise program is finding something that the child likes to do. Children are more likely to participate in an activity that they, rather than their parents, choose. The activity does not need to be an organized sport, but any type of activity or play that is sustained. For example, walking the dog, playing outside with friends, and riding a bike are all beneficial. Limiting sedentary activities (e.g., television and computer time) is very important, as this will increase a child's activity level.

Behavior Modification - Various behavior modification techniques may help a child be successful in achieving weight management goals. Self-monitoring by keeping diet and activity records enables an older child to be more aware of his/her eating and activity patterns. To provide a "safe" environment, parents should limit the amount of high calorie foods in the house, discourage eating in front of the television, and serve age-appropriate portion sizes.

Having scheduled meals and snack times and eliminating between-meal eating is in everyone's best interest. Decreasing the frequency of meals eaten outside the home and sending a bag lunch to school also are ways to make a healthier diet. Modification of eating habits may include taking smaller bites, chewing food longer, and putting the fork down between bites with the goal of increasing meal/snack duration to at least 15 minutes. Reinforcements and rewards for achieving weekly dietary and activity goals also may be helpful.

Are there additional treatments available for childhood obesity?

There are many medications that have been used successfully in adults to aid with weight loss; however, the Food and Drug Administration has not approved these medications for use in children. At this time, medications for childhood obesity are limited to clinical studies and for some extraordinary medical situations. Gastric surgery also has been performed with successful results in adults, but there have not been enough studies in children to recommend this procedure.

Figure reprinted with permission from the American Journal of Clinical Nutrition.

References

Barlow SE, Dietz WH. Obesity evaluation and treatment: expert committee recommendations. Pediatrics 1998;102:E29.

Himes JH, Dietz WH. Guidelines for overweight in adolescent preventive services: recommendations from an expert committee. Am J Clin Nutr 1994;59:307-16.

Strauss R. Childhood obesity. Curr Probl Pediatr 1999;29:5-29.

Troiana R, Flegal KM, Kuczmarski RJ, Campbell SM, Johnson CL. Overweight prevalence and trends for children and adolescents. The National Health and Nutrition Examination Surveys 1963-1991. Arch Pediatr Adolesc Med 1995;149:1085-91.

About the Author

Dr. Travers is an assistant professor of pediatrics at the University of Colorado Health Sciences Center in Denver, Colorado. She is board certified in both pediatrics and pediatric endocrinology.

As a clinician at The Children's Hospital of Denver, she provides care to those children with various endocrine disorders. Her clinical and research interests include Turner syndrome and childhood obesity.

Copyright 2012 Sharon H. Travers, M.D., All Rights Reserved

Otitis Media, Acute 

What is acute otitis media?

Acute otitis media is an infection of the middle ear, generally caused by bacteria. In acute otitis media (i.e., an ear infection or an infection of the middle ear), pus and infected fluid accumulate in the middle ear space.

The tympanic membrane (eardrum) appears inflamed, reddened, and often protrudes outward. Usually, an ear infection begins after the eustachian tube (a small tube connecting the back of the nose to the middle ear space) has become swollen, congested, and closed, most commonly resulting from an ongoing viral respiratory infection.

Acute otitis media should not be confused with: 1) external otitis ("swimmer's ear")-a painful bacterial infection of the superficial skin of the ear canal, or 2) otitis media with effusion (secretory otitis or "fluid ears")-an accumulation of non-inflamed fluid behind the eardrum. Otitis media with effusion is not considered infected, and most doctors do not treat it with antibiotics. This uninfected fluid in the middle ear is a remnant in 50% to 60% of resolved ear infections. It is frequently a mild complication of colds, respiratory illnesses, or nasal allergies.

What causes acute otitis media?

Acute otitis media usually is caused by one of four bacteria:

  1. Streptococcus pneumoniae (pneumococcus) in 30% to 45% of cases.
  2. Haemophilus influenzae (Haemophilus-but not the Haemophilus strain in the HIB or meningitis vaccine) in 20% to 30% of cases.
  3. Moraxella catarrhalis (Moraxella; sometimes called Branhamella catarrhalis) in approximately 10% of cases.
  4. Group A Streptococcus (like the strep bacteria of strep throat) in 5% of thecases.

The pneumococcus bacteria is now the most difficult to treat. Some strains have become very resistant to antibiotics by using their unique ability to transform their genes and cell wall into a bacterial form, which is resistant to most of the antibiotics that commonly are used to treat ear infections. These resistant strains frequently are cultured from children who do not respond to several courses of antibiotics. When a child has an ear infection that does not respond to antibiotics, resistant pneumococcus bacteria may cause it.

Pneumococcus has 90 different types, which are all genetically related; however, 7 types account for the majority of ear infections in childhood and nearly all of the antibiotic resistant strains. In addition, pneumococcus is the leading cause of meningitis, bloodstream infections, and serious pneumonia in children, sometimes as a result of a preceding ear infection.

Up to half of Haemophilus and nearly all Moraxella bacteria produce an enzyme (beta-lactamase), which makes these bacteria resistant to some of the commonly used antibiotics. This enzyme may destroy many antibiotics when they come in contact with the bacteria. Nonetheless, several available antibiotics are still quite effective against these strains.

Viruses play a critical role in the development of acute otitis media by enabling the bacteria to travel into the middle ear (see below). By themselves, though, viruses account for only 6% to 10% of ear infections

How does it cause disease?

As long as air entering from the back of the nose is able to reach the middle ear space via the eustachian tube, the middle ear rarely becomes infected. The eustachian tube in younger children is flimsy and easily collapses. As the child grows, the cartilage tissue surrounding the eustachian tube becomes stiffer, longer, and more angulated inside the skull.

Pneumococcus, Haemophilus, and Moraxella commonly reside in the back of the nose, and do not infect the child. Once a child becomes infected with a respiratory virus, it not only causes congestion of the nose and the lungs, but also of the eustachian tube. When this tube becomes clogged, the cells in the middle ear space produce a fluid-like substance, which allows bacteria to grow and infect the middle ear space. A virus infection precedes up to 90% of cases of acute otitis media.

Respiratory virus infections also trigger ear infections by upsetting the body's normal defenses in the nose and the eustachian tube, and allowing certain normal bacteria that reside in the nose to "stick" better to the lining of the nose and the eustachian tube. Certain viruses, such as the flu (influenza) and RSV (a respiratory syncytial virus, or the "bronchiolitis bug"), are more frequently associated with ear infections. Occasionally, the child's nose becomes colonized by a new aggressive strain of bacteria, which rapidly invades the middle ear. Unfortunately, more exposures (e.g., via daycare attendance) to viruses and new strains of bacteria increase the likelihood of ear infections.

How common is acute otitis media?

Acute otitis media is predominantly an infection of young children, primarily occurring in the first three years of life. Children in the 1990s experience 30% more episodes of acute otitis media as compared with children in the 1970s, probably as a consequence of high rates of day care. Currently, acute otitis media accounts for one-fourth of all pediatric office visits in the first three years.

Nearly 94% of children will experience at least one ear infection in the first three years of life, with an average of about three episodes in the first and second years, and one and one-half episodes in the third year. As many as 5% to 8% of children will undergo the placement of ventilating tubes in their first 24 months of life. Much of this is related to the high rate of daycare attendance in the United States, with increased exposure to infectious agents.

Who gets an ear infection?

At the highest risk for ear infections include those children who:

  • are male;
  • are of the white, American Indian, or Eskimo races;
  • attend daycare;
  • have Downs syndrome;
  • are immunocompromised;
  • have a strong family history of otitis media;
  • were not breastfed during the first 12 months of life; and/or
  • reside in a smoking household.

Children with a cleft palate or HIV have particularly severe problems with recurrent ear infections.

Age affects the rate of acute otitis media, with a dramatic decline in frequency in children older than three years. However, some children with a history of ventilating tubes or frequent recurrent otitis media, severe allergies, or large adenoids may still be plagued with ear problems.

Is an ear infection contagious?

To some degree, the bacteria that cause ear infections are contagious because they may colonize, or set up residence, in the nose of children or close contacts. However, only a small proportion of children colonized with a new strain of bacteria will develop an ear infection. For example, in the case of pneumococcus, only about 15% of children colonized in the nose with a new strain of it will develop an ear infection, and usually only within the first month. Also, some bacterial strains appear more aggressive than others and will directly invade the middle ear.

What may be even more important than new bacterial colonization is the spread of respiratory viruses, particularly among children in daycare and pre-schools. Respiratory viruses are very contagious in close quarters. They frequently make a child more susceptible to an ear infection by upsetting the normal balance between the child's local nose immunity and the co-inhabitant bacteria. When the child's defenses are down, or the eustachian tube becomes clogged, the bacteria tend to infect the middle ear.

How do you know if your child has an ear infection?

Children with an ear infection display a wide range of symptoms, from none at all, to a high fever, to a screaming earache. Many infants and toddlers with an ear infection show less obvious symptoms, such as sleeplessness, irritability, decreased feeding, or a fever. Ear pain and ear tugging are helpful clues, but are fairly unreliable. Even in older children with a respiratory illness, mild to moderate ear complaints and earaches frequently occur in children with normal ears. In these children, a sore throat often causes the ear complaints. Fever occurs in only one-fourth of ear infections, and it does not signify an ear infection.

One of the more reliable indicators of an ear infection in younger children is when a child, who has had a cold and a runny nose for three to seven days, suddenly develops sleeplessness and inconsolability during the night, along with increasing fussiness throughout the day. Children with a persistent ear infection who have recently received antibiotics often show few symptoms.

Antibiotics should not be prescribed over the phone for a presumed ear infection, without an examination by a physician. Only a careful examination of the eardrum by a doctor can determine whether the ear is truly infected. Often, when the child is brought into the office in the early phase of a cold or a mild respiratory infection, the eardrum will be normal, only to become infected several days after the office visit. If the child has only a mild cough and a runny nose, it is best to wait at least five to seven days into the illness before making an office visit.

The new EarCheckTM (acoustic reflectometry instrument) may help parents to determine whether a young child is getting an ear infection. If a previously healthy child, who now has an illness, develops an abnormal reading on the instrument, parents can assume a 70% chance of fluid behind the eardrum. It will not distinguish between infected or uninfected fluid. More importantly, if the readings are normal and the child's symptoms are mild, parents can assume that it is very unlikely that the child has an ear infection, and an office visit may be avoided.

What does the eardrum look like when it is infected?

When a doctor examines the eardrum through the otoscope instrument, the eardrum normally appears as a thin gray, translucent membrane (like wax paper). When infected, it will look opacified (cloudy), very reddened, and yellowish. Sometimes, it shows a small layer of pus-like material. During an infection, the eardrum usually becomes rigid because of the accumulation of fluid, and it will not wiggle when the doctor puffs a small amount of air against the eardrum with an otoscope. Use of tympanometry or acoustic reflectometry (i.e., the EarCheck instrument) may help to determine if there is fluid behind the eardrum. Neither instrument distinguishes between infected or uninfected fluid.

From the appearance of the eardrum, the doctor cannot determine the type of bacteria, or whether bacteria or viruses are causing the infection. The eardrum in children with otitis media with effusion appears as an orangish or dull, straw-colored fluid, and it also does not move when air is applied to it.

How is an ear infection treated?

The intense ear pain of acute otitis media can be partially relieved by adequate doses of ibuprofen or acetaminophen. For more severe earaches, some doctors may prescribe codeine. Numbing eardrops provide minimal relief, and only for a short time. A warm washcloth or sweet oil (olive oil) directly instilled in the ear canal may temporarily distract from the child's ear pain.

Nearly all doctors in the United States believe that acute otitis media should be treated with antibiotics by mouth, particularly if the child has symptoms. Antibiotics generally provide prompt and dramatic relief of the ear pain. Oral antibiotics for acute otitis media are safe and effective, with exceedingly rare serious side effects.

In a few European countries, ear infections are not treated in children older than two years, unless symptoms persist for more than 48 hours. A few U.S. physicians recommend this same tactic.

Most experts in the United States are concerned about the tendency for pneumococcus in an ear infection to cause more serious infections. When pneumococcus causes an ear infection, if left untreated, it will persist in the ear of 80% of children for up to a week. However, most episodes of acute otitis media will resolve on their own from 3 to 10 days. Yet, non-treatment may be dangerous, not only because of the risk of serious pneumococcus infections, but also because of the possibility of other serious complications. Furthermore, few parents are willing to watch a child suffer with an earache, a fever, and crying for several days.

Amoxicillin (the "pink ink") is the drug of choice for initial ear infections, except in the penicillin allergic child. In an attempt to enhance the effectiveness of this inexpensive and safe antibiotic, many doctors are now prescribing amoxicillin twice a day and in double the daily standard dose. Effectiveness for initial therapy with most antibiotics approaches 70% to 80%. There are other antibiotics to treat children who do not respond to amoxicillin or who never seem to respond to initial amoxicillin therapy.

Children who do not respond after two or more standard courses of antibiotics can be expected to respond to another antibiotic only about 50% to 60% of the time. Most children who fail antibiotic therapy are younger than 24 months, have poor eustachian tube function, and tend to be infected with more resistant bacteria. At this point, the easy-to-treat bacteria usually have been eliminated. The persistent bacteria are the most resistant strains of the three most common ear bacteria. The emergence of more resistant strains is outpacing the development of new effective drugs. A child's doctor should be relied upon to select the most effective second-line antibiotic choices.

The new "one-shot" (ceftriaxone) for acute otitis media also is effective for simple cases of acute otitis media. However, "the shot" should only be used in select children, such as those with vomiting and diarrhea, very cantankerous toddlers, or children with an associated moderately serious illness. Three daily doses of ceftriaxone also may be very effective in children who have failed three to four consecutive courses of antibiotics, and are destined for tube placement.

The Centers for Disease Control (CDC) has convincingly pointed out that antibiotic overuse is one of the major culprits for the increasing antibiotic resistance problem. Parents should not insist on an antibiotic prescription for fevers, minor colds, and respiratory illnesses.

Physicians almost never know which bacteria they are treating. Thus, the CDC and other otitis experts advocate the use of tympanocentesis (lancing the ear or ear tap) for children who have failed antibiotic therapy.

Tympanocentesis:

relieves instantly the pain of the child with a crying earache; enables the physician to culture the bacteria and to select the best antibiotic for the infection; and allows the ear infection (like an abscess) to drain, which may improve the healing process.

The procedure can be performed nearly pain free. Only physicians who have been trained in the procedure perform it.

No medication is currently available to treat viruses that precipitate ear infections, either before or during the illness. An exception is the flu virus. Anti-flu medications and the flu vaccine could help prevent some wintertime ear infections, but only for the small number of children with ear infections related to the flu.

What are the complications?

The most serious complications secondary to ear infections are mastoiditis (infection of the skull bone behind the ear) and meningitis (infection of the lining of the brain). Both are extremely rare.

Chronic draining ears and chronic perforations (holes in the eardrum) are uncommon, but occur more frequently as a result of resistant pneumococcus. However, these complications are commonly seen in developing countries where antibiotics are not readily available. Permanent hearing loss from very severe recurrent infections is a major concern, but is still rarely observed with effective antibiotic therapy. Children with an ear infection (even ones that rupture and drain) suffer only some temporary, low grade hearing loss. As the fluid resolves, which may take months, the hearing returns to baseline levels.

Your child's doctor may work with an ear-nose-and-throat doctor to help treat the more severely afflicted child, or one who has suspected chronic hearing loss. Children with chronic fluid persisting for more than four months, or with more than five or six ear infections in a year, may require the insertion of "tubes." This is most important during the first two years of life when hearing is critical for speech and language development. Chronic ear infections may aggravate learning and later school problems, but cause and effect on this issue remains speculative.

Severe complications from ear infections nearly have been eliminated, and there is an array of antibiotics to treat them; however, the rate of highly resistant bacteria infecting children has increased. Physicians cannot continue to wastefully prescribe antibiotics, and parents should not demand them to treat everyday colds and viral infections. Although the new Prevnar vaccine may prevent many strains of highly resistant pneumococcus, with continual antibiotic misuse, microbiologic history will repeat itself in other pneumococcal strains or in other bacteria.

How can an ear infection be prevented?

The simplest preventive measures include the following:

  • Breastfeed an infant during the first 12 months of life
  • For bottle-fed infants, never prop the bottle and wean off the bottle by 12 months
  • Do not smoke around the baby, particularly in the household or the car
  • Do not smoke during pregnancy
  • Consider a private sitter or a smaller daycare, instead of a high volume daycare
  • Avoid the introduction of solid foods in the first four months of life
  • Administer the flu vaccine annually after six months of age
  • Consider allergen avoidance and allergy shots in older children (over three years) with chronic fluid
  • Administer Prevnar vaccine to infants less than 24 months of age

More controversial preventive measures include the following:

  • Avoid the pacifier
  • Give the pneumococcal vaccine (Prevnar) to infants and children older than 24 months who are unvaccinated with Prevnar and still getting recurrent ear infections

Ineffective measures include the following:

  • Covering a child's head with a hat during the winter
  • Using decongestants and antihistamines to "prevent" ear infections
  • Chiropractic manipulation
  • Herbal remedies

What research is being done?

The most important recent development to potentially reduce the frequency of ear infections is a new pneumococcal conjugate vaccine. A study from Northern California suggests that this vaccine could prevent about 7% of overall episodes of ear infections, and up to 23% of recurrent ear infections.

The new pneumococcal vaccine contains 7 of 90 types of pneumococcus, which are the most common and the most resistant bacteria. Elimination of these resistant types could have an impact on the number of antibiotic failures in children. This also could mean a reduction in the placement of tubes, possibly by one-fourth, as observed in the California study.

This vaccine is administered to infants at 2, 4, 6, and 12 months of age. Side effects have been minimal, and it has been a very safe vaccine. It uses the same technology as the universally administered HIB vaccine.

ome new antibiotics are about to undergo testing in children with acute otitis media. In preliminary testing, these drugs appear to work against the resistant pneumococcus.

In the future, there may be alternate ways of treating or preventing ear infections. A new antibiotic may be able to penetrate the eardrum directly by instilling eardrops. A nasal spray squirted in the nose of infants a few times a day may prevent the common bacteria of acute otitis media from gaining access to the nose. Some Scandinavian investigators have shown slight reduction in the number of ear infections in children who regularly used an experimental sugar called xylitol.

About the Author

Dr. Block is a full-time practicing pediatrician in rural Bardstown, Kentucky who serves on the clinical faculties at both the University of Kentucky and the University of Louisville as an Associate Clinical Professor of Pediatrics.

His pediatric practice is one of the leading pediatric research groups in the United States and, in fact, Dr. Block was awarded the American Academy of Pediatrics 1998 Practitioner Research Award.

He has authored and published over 20 articles and 40 abstracts on pediatric infectious diseases. He has also lectured on Otitis Media extensively to pediatricians and other physicians throughout the U.S. and Canada.

Copyright 2012 Stan L. Block, M.D., All Rights Reserved

Pneumococcal Conjugate Immunization 

Read more about this here.

Polio Immunization 

Read more about this here.

Premature Thelarche 

What is premature thelarche?

Thelarche means "the beginning of breast development." Therefore, if a girl begins to show breast enlargement at an early age (anywhere from birth to six years), it is called "premature thelarche."

Technically, most cases of early breast enlargement are harmless, and do not progress significantly. They are not the beginning of (continued) breast development. They also are not usually associated with the development of the other physical signs of puberty, e.g., acne, pubic hair, periods, or rapid growth. Therefore, a better term for this condition is infantile, or early, "gynecomastia," which only signifies that one or both breasts are enlarged.

What causes premature thelarche?

Studies of girls with early breast enlargement have not shown elevated blood levels of estrogen or any other abnormality. Occasionally, an ovarian cyst (or cysts) may be seen on a pelvic ultrasound, but this condition also may occur in girls without breast enlargement; therefore, it is not clear if the cyst(s) are secreting enough estrogen to cause the breast enlargement. Some physicians believe that the girls are just temporarily more sensitive to their normal blood levels of estrogen.

Who gets premature thelarche?

There is not one identifiable group of girls who develops early breast enlargement. However, it is a concern if a male infant or a young boy shows breast enlargement.

How does premature thelarche cause disease?

Premature thelarche is not a disease; instead, it is a normal finding in some young girls or female infants. If there are other signs of puberty, then a physician should evaluate the child for the causes of early puberty.

What are the common findings?

The common finding is the enlargement of one or both breasts. In simple premature thelarche, there are no other signs of pubertal development, and the child is growing at a normal-not an increased-rate.

How is premature thelarche diagnosed?

Most commonly, premature thelarche is diagnosed in a female infant or a girl up to three years of age. Occasionally, a girl from three to six years of age will show an enlargement of one or both breasts. However, after age six, the beginning of breast development is actually the beginning of puberty; however, it is a very slow form of development. In addition, girls with early breast development usually do not have early periods.

Typically, the girl has no other signs of puberty, and is growing at a normal, pre-pubertal growth rate, i.e., about two inches a year. Laboratory studies are not usually helpful, since they show low (pre-pubertal) concentrations of estrogen or other hormones that stimulate pubertal development. An x-ray of the hand shows a picture that is normal for the girl's age, and not that of an older girl.

How is premature thelarche treated?

Treatment for early breast development is not necessary; however, the physician and the parents may want to monitor any changes in the girl's breast size.

What are the complications?

Usually, there are no complications associated with early breast development. Since there is a very small chance that the girl is actually starting puberty, it is recommended that both the physician and the parents monitor her.

How is premature thelarche prevented?

Premature Thelarche cannot be prevented. Parents should be sensitive to their children's concerns and encourage communication so as to alleviate anxiety or fears.

References

Kappy MS, Ganong CS. Advances in the treatment of precocious puberty. Adv Pediatr 1994;41:223-61.

About the Author

Dr. Kappy is a professor of pediatrics at the University of Colorado Health Sciences Center and the Chief of the Pediatric Endocrinology Department at The Children's Hospital in Denver, Colorado.

He was a recipient of the Johns Hopkins University Distinguished Alumnus Award in 1996. His research interest include the treatment of precocious puberty and the effects of growth hormone in growth hormone-deficient individuals.

Copyright 2012 Michael S. Kappy, M.D., Ph.D., All Rights Reserved

Prematurity 

What is prematurity?

Any infant born at less than 37 weeks gestation is by definition "premature." Most infants born at 35 to 37 weeks gestation are relatively healthy, and they often have only brief hospital stays in normal newborn nurseries. The problems associated with premature infants occur with greater frequency in those of lower gestational age at birth, typically less than 35 weeks gestation.

What is important to know prior to the birth of a premature infant?

Some treatments may be used in mothers who are at risk of having their baby early. Anyone who has had a previous preterm infant is at a "high risk" of having another preterm infant. Therefore, prenatal care should be sought with a caregiver who is up to date and comfortable with the management of a mother who is at risk for a preterm delivery.

When a mother is in preterm labor, she should be admitted to the hospital and placed on drugs to slow the progress of labor. Although these drugs will not delay delivery for very long in many cases, they often allow enough time to receive a full course of steroids (betamethasone or dexamethasone) to accelerate the maturation of the fetus. Steroids have been shown to decrease the rate of death of preterm infants, as well as decrease the rate of lung, intestinal, and brain complications.

When there is a risk of delivering a baby early, it is appropriate to ask if the nursery at the hospital is able to take care of a preterm baby. If not-if it is safe for the mother and fetus-they should be transferred to a facility that is capable of caring for the baby after birth. In addition, an expectant mother should talk with the hospital staff members who will care for the baby after birth. Issues to discuss include a review of the problems associated with prematurity, chances of survival, and the anticipated long-term outcome.

What is the chance of survival for a premature infant?

The survival of premature infants is determined by gestational age at delivery and birth weight. Infants born after 28 weeks gestation and 1,000 grams, or 3 pounds 3 ounces (454 grams equals 1 pound), have more than a 90% chance of survival. The rate of survival at 27 weeks and 900 grams is 80% to 85%, at 26 weeks and 800 grams is 75% to 80%, and at 25 weeks and 700 grams is 60%. Rates of survival drop off rapidly at less than 25 weeks, and they vary quite a bit among different nurseries.

The long-term outcome also is dependent on gestational age and birth weight. For babies of 26 to 32 weeks gestation, the rate of severe neurodevelopmental problems among survivors is about 10%; at 23 to 26 weeks, the rate increases gradually to 25% of survivors. Other long-term complications, including lung problems, vision disturbances, and hearing loss, are more common in babies of lower gestational age at birth.

What is the delivery room management of the premature infant?

Staff members who are experienced in the management of premature infants should be present in the delivery room. The infant must be kept warm; provided with adequate oxygen; and helped with breathing, if necessary. Most infants who weigh less than 1,000 grams at birth will require a breathing tube in their airway.

What problems can be expected in the nursery?

Thermoregulation

Preterm infants are not able to maintain their body temperature without an external heat source. Initially, heat will be provided with an overhead warmer that responds to the baby's temperature and provides adequate warmth to maintain a normal body temperature. The warmer provides easy access to the baby for necessary cares during the early, "unstable" period. When more stable, the baby will be moved into an incubator to maintain a warm environment. Most infants are able to move into an open crib at a weight of approximately 1,800 grams.

Nutrition

Initially, premature infants are given all the necessary fluid, calories, protein, sugar, and fat in their veins. When their condition stabilizes, a feeding tube into their stomachs can start. The amount of feeds starts at a very low level, and it is advanced slowly over 3 to 7 days to "full" feeds. At this point, the infant no longer needs fluids or nutrition into their veins. Once full feeds are achieved, anticipated rates of weight gain are 10 to 25 grams per day. Breast milk is the food of choice, but formulas developed for preterm infants are an acceptable substitute. A baby will be able to begin "nipple" feeding from a bottle at about 33 to 34 weeks post conception.

Monitoring

All babies in intensive care nurseries have their heart rates, breathing, and, in some cases, blood pressure monitored continuously. Blood oxygen also can be monitored with a pulse oximeter in infants with lung and heart problems. A pulse oximeter uses a light source, wrapped around the infant's foot or hand, to measure the amount of oxygen carried by the hemoglobin in the red blood cells. At the start, a sick baby will usually have an indwelling tube in an artery (usually the umbilical artery in the cord that was connected to the placenta in the uterus) to sample blood for tests without having to draw blood from the infant. A tube also may be placed in the umbilical vein to give fluids and nutrition. These tubes are usually kept in the infant for 3 to 10 days depending on how sick they are.

Lung problems

Hyaline membrane disease (HMD) or respiratory distress syndrome (RDS). By 24 weeks gestation, there is adequate surface for gas exchange (bringing oxygen to the blood and removing carbon dioxide) in the lung; however, a necessary element for survival is missing. The natural tendency of a lung is to collapse when a person breathes out. Once collapsed, it is very difficult to reopen the lung. A chemical called surfactant is produced in the lungs to lower surface tension as the lungs get smaller during exhalation. This chemical prevents a total collapse of the lungs and allows easy re-expansion with inhalation.

Preterm babies have little or no surfactant in their lungs, and they would die from respiratory failure without intervention. The frequency of surfactant deficiency ranges from nearly 100% at 24 weeks gestation, to 60% at 28 weeks and 25% at 32 weeks. To treat this condition, babies are given surfactant substitutes through their breathing tubes into the lungs and to help them breathe with breathing machines called ventilators. Depending on their gestation at birth, premature infants will remain on the ventilator from a few days to up to about 6 weeks.

When babies are ready to come off the ventilator, they are "extubated" (removal of the breathing tube) to either nasal CPAP (provides low pressure through a device placed in the nose to help keep the lungs expanded) or to a bubble with extra oxygen placed over the head. Ultimately, supplemental oxygen can be delivered with a small hose under the nose called a nasal cannula.

Apnea and bradycardia (A&B spells). At the time of birth, preterm infants have an immature respiratory drive. This results in spells when they "forget" to breathe (apnea). If these spells are long enough, they result in a decrease in blood oxygen and then a slowing of the heart rate (bradycardia). Sometimes, these episodes resolve themselves, while, in other cases, the infants need to be stimulated to restart breathing. If the spells are bad enough or occur with a frequency of more than 6 to 10 times per day, they can be treated medically with caffeine (like in coffee) citrate.

In most infants, this is successful; however, if this treatment fails, it is sometimes necessary to place the infant back on nasal CPAP or the ventilator. Infants born beyond 28 weeks gestation generally outgrow these spells by 37 weeks post conception. In infants born at lower gestational ages, the spells may last longer.

Chronic lung disease (CLD) or bronchopulmonary dysplasia (BPD). The combination of prematurity, oxygen exposure, and mechanical ventilation can result in lung injury to preterm babies. The consequence of this lung injury is chronic lung disease. CLD can prolong ventilator courses in small preterm infants (less than 1,200 grams) and result in a long-term oxygen need that can sometimes extend to home care. The frequency of this complication is greatest in the least mature infants, and, in those infants less than 26 weeks gestation at birth, it can occur in over 75% of cases. However, the lungs still generate new gas exchange surface until adolescence so the vast majority of infants outgrow this problem.

Patent ductus arteriosus (PDA)

The major heart-related problem in premature infants is PDA. The ductus is a structure that is present in a fetus connecting the main blood vessel that goes to the lungs from the heart to the main blood vessel that goes to the rest of the body. In the fetus, very little blood goes to the lungs because the fetus does not breathe air. The ductus allows the majority of the blood that is headed from the heart to the lungs to cross to the circulation to the body, bypassing the lungs. At birth, it is supposed to close.

In preterm babies, this closure may not occur. After birth, if this vessel is open, too much blood ends up going to the lungs, making it harder for an infant to breathe or to be ventilated. To close this blood vessel, the medication indomethacin is used. This works over 75% of the time; however, if it fails, a surgical closure is needed. Fortunately, it is a brief procedure that can be done at the bedside with almost uniformly good results.

Necrotizing enterocolitis (NEC)

The most important intestinal complication in preterm babies is NEC. This disease is the result of periods of low blood flow to the intestine, intestinal immaturity, and infection. When a baby develops this problem, they cannot be fed into the intestine and require 10 to 21 days of nutrition in their veins. In addition, a large tube is placed in the stomach to keep air out, and antibiotics are given. Many of the cases respond to this treatment, but, in some cases, surgery is needed to remove parts of the intestine that have died.

Intraventricular hemorrhage (IVH)

The internal structures of the brain in a preterm infant are at risk for hemorrhage. The bleeding is usually the result of a previous period of low blood flow, and occurs in the first four days of life. Diagnosis of the bleeding is performed with bedside ultrasound exams. The degree of bleeding is graded from 1 to 4. Grade 1 and 2 bleeds are small, and they do not increase the infant's risk of neurodevelopmental abnormalities, while 33% of the babies with grade 3 and 4 bleeds will suffer severe neurologic injury, and another 33% will suffer lesser deficits. The final neurologic complication in preterm babies is injury to the motor tracts in the brain called periventricular leukomalacia (PVL), which causes cerebral palsy-a movement disorder with spasms that can impair the ability to walk.

Retinopathy of prematurity

The retina of the preterm infant is not fully "vascularized"(i.e., the blood vessels are not fully developed) at birth. The infant is at risk for a process called ROP, which, in its worst form, can lead to detachment of the retina and blindness. In babies born at less than 28 weeks or 1,500 grams, an ophthalmologist will perform a screening exam at 6 weeks of age.

Follow-up exams will then be performed until any ROP resolves, and the retina is fully vascularized. ROP is graded from 1 to 5 for severity. The process resolves spontaneously in most infants, but those infants who reach an advanced stage 3 of disease are at a high risk for detachment of the retina. These infants require treatment with laser therapy, which often can save the vision in the affected eye(s).

Anemia of prematurity

Because of blood sampling for tests and conditions that cause blood loss, such as inventricular hemorrhage, many preterm babies will require red blood cell transfusions. To decrease the number of transfusions given and to minimize donor exposure, preterm babies can be treated with the hormone erythropoietin, which stimulates red blood cell production in the body.

Hyperbilirubinemia (jaundice)

Virtually all preterm babies will develop jaundice. Jaundice is caused by an accumulation of the yellow pigment "bilirubin," which is the breakdown product of hemoglobin from the red blood cells. A preterm infant cannot effectively clear the bilirubin in the liver. If too much bilirubin accumulates in the blood, it can cause brain damage. To help these infants in clearing the bilirubin to prevent brain damage, they are placed under phototherapy ("bilirubin lights").

Infection

Some preterm deliveries are the result of an infection in the uterus, which also can lead to an infection in the baby. In addition, infants in the intensive care nursery are at an increased risk for infection due to indwelling lines and tubes, as well as a compromised immune ("infection fighting") system. Thus, the risk of infection is high. If there is concern that an infant might be infected or there is a proven infection, the infant is treated with antibiotics-an event that is likely to occur more than once during the nursery stay.

What needs to happen for my baby to go home?

Most preterm infants are ready for discharge at or a few weeks before their due date. The criteria for discharge include the ability to maintain body temperature in a crib, adequate oral intake to sustain consistent growth, and resolution of apneic and bradycardic spells. Occasionally, infants who are otherwise doing well may be sent home on partial tube feedings.

In addition, if A&B spells are not completely resolved, but are not felt to be life threatening, some physicians will send a baby home on a heart monitor. If an infant needs supplemental oxygen at discharge, a test needs to be performed prior to going home to be sure if the oxygen were to fall off that the blood oxygen does not drop to dangerously low levels.

What is the outcome for survivors of the intensive care nursery?

Neurodevelopmental handicaps may occur in survivors of the intensive care nursery. These handicaps include cerebral palsy, which can be severe enough to prevent a child from walking, and cognitive deficits, which can be severe enough to prevent a child from learning to talk or read. Fortunately, deficits this severe occur in the minority of survivors, but others may have lesser deficits that cause delayed motor development, learning disabilities, and behavioral disorders, such as attention deficit disorder (hyperactivity).

The rates of abnormalities are higher in babies of lower gestational age at birth, particularly those born at 25 weeks or less. Although ROP rarely causes blindness, vision problems may still occur. The frequency of hearing loss is increased compared to term infants. The consequences of chronic lung disease are an increased rate of hospital readmission during the first two years of life, a continued oxygen need, and an increased incidence of asthma-like symptoms.

Finally, preterm infants are at an increased risk for poor weight gain, and they may require nutritional supplements or special formulas. Most premature infants who "graduate" from an intensive care nursery do quite well; however, coordinated follow-up to address all of their needs is of paramount importance.

References

Fanaroff A.A., Martin R.J. (editors): Neonatal-Perinatal Medicine. Diseases of the Fetus and Infant, 6th ed., Mosby, 1997.

Zaichkin J.: Newborn Intensive Care. What Every Parent Needs to Know. NICU Ink, 1996.

About the Author

Dr. Rosenberg graduated from Vanderbilt Medical School in 1976. His Pediatric Residency was at the University of Colorado and his Neonatal Fellowship was fulfilled at Johns Hopkins University. He is the Director of Newborn Services at University Hospital in Denver and Professor of Pediatrics at the University of Colorado School of Medicine.

His professional interests include newborn brain injury and long-term follow up of high-risk newborns. Some of his personal interests include tennis, skiing and youth sports programs.

Copyright 2012 Adam A. Rosenberg, M.D., All Rights Reserved

Prematurity, Retinopathy of 

What is retinopathy of prematurity?

Retinopathy of prematurity is a disease of the retinal blood vessels that can occur in extremely premature infants. The retina is the inner lining of the eye that consists of specialized nerve cells necessary for sight. Blood vessels in the retina develop first from the optic nerve area at the very back of the eye, with growth of blood vessels within the retina toward the front of the eye. The normal process of retinal blood vessel growth is stopped in premature infants, leading to the formation of abnormal blood vessels and scar tissue.

What causes retinopathy of prematurity?

Researchers have discovered several risk factors for retinopathy of prematurity. One of the most significant risk factors is prematurity (born before 34 weeks of pregnancy). Another risk factor is low birth weight (less than 1500 grams or approximately 3 pounds). In the past, extremely high levels of oxygen therapy necessary for the survival of premature infants were thought to contribute to retinopathy of prematurity. However, with the precision of modern oxygen monitoring techniques now available, it is unlikely that excess oxygen causes this disease. Retinopathy of prematurity also has been reported in infants who receive no supplemental oxygen. In experiments, retinopathy of prematurity has been produced in animals by conditions simulating low-oxygen levels.

Who gets retinopathy of prematurity?

Infants weighing less than 1250 grams have an approximately 50% chance of developing some retinopathy of prematurity. As birth weight decreases, the likelihood of retinopathy of prematurity increases. More than 90% of infants weighing less than 750 grams develop retinopathy of prematurity. The same trend holds true in relation to when an infant is born. Approximately 30% of infants after 32 weeks of pregnancy develop retinopathy of prematurity, and greater than 80% of infants less than 28 weeks of pregnancy develop retinopathy of prematurity.

How does it cause disease?

The growth of normal retinal blood vessels may be stopped, with normal vessels only growing to the middle of the retina. Beyond this, the retina has no blood vessels. Most likely, a chemical signal is then sent out that stimulates the remaining retina to grow new blood vessels. The new blood vessels are abnormal and frail, and they can bleed and scar easily. If enough of this scar tissue is present, it can pull on the retinal tissue, causing a traction retinal detachment. If the situation progresses further, a total retinal detachment can occur, leading to vision loss and, possibly, loss of the eye.

Common findings

An ophthalmologist experienced in the examination for this condition can diagnose retinopathy of prematurity. A set of dilating drops is placed in each eye to dilate the pupil. The infant is examined with an instrument to keep the eyelids open (called a lid speculum), and the retina is inspected with an ophthalmoscope. The eyeball may be manipulated to complete the examination.

The area (zone) of retinal involvement and the severity (stage) of the disease define retinopathy of prematurity.

Zone I is a circular area, roughly equivalent to the optic nerve and macular area in the center of the retina. Zone II is a larger circle surrounding this area, roughly equivalent to the middle of the retina. Zone III is the remaining anterior (or front) retina and represents an area of near maturity of the retinal vessels. Severe retinopathy of premature occurs most often in Zones I and II.

Stage I is defined as a line found at the border of the normal retina and the retina without blood vessels. Stage II is defined as a thickening of the line to form what is called a ridge. These stages probably represent growth of immature retinal cells. Stage III involves growth of new abnormal blood vessels, both on the ridge and elevated above the ridge into the vitreous (clear, gelatinous material between the retina and the lens) area. When Stage III blood vessel growth reaches a certain level, it is best treated by laser. Stage IV involves traction and detachment of the retina. This stage is divided into Stage IV-A, or detachment not involving the macula (area near the center of the retina where vision is most clear), and Stage IV-B, or detachment involving the macular or central retina. Stage V is defined as a total tractional retinal detachment for which there is often no effective treatment.

Plus disease is defined by abnormal vessels that are very tortuous, along with the findings listed above, usually indicating a situation that may require immediate treatment.Rush disease indicates unusually fast progression (1- to 2-week period) from no retinopathy of prematurity to disease that requires treatment.

Most retinopathy of prematurity does not require treatment and resolves on its own. The risk of developing disease that requires treatment is highly related to low birth weight and prematurity. In infants weighing less than 750 grams (approximately 1 1/2 pounds), 15% to 20% of infants developing any retinopathy of prematurity do go on to disease that requires treatment. For infants weighing greater than 1250 grams (approximately 2 3/4 pounds), only 2% of infants developing retinopathy of prematurity go on to disease needing treatment. Some retinopathy of prematurity that develops in the remainder of the infants ultimately resolves on its own.

Treatment

Earlier studies found a beneficial effect of cryotherapy (freezing treatment) to the peripheral areas of the retina (areas without blood vessels) in healing retinopathy of prematurity. Now, cryotherapy has been replaced largely by laser treatment. In both treatments, the peripheral areas of the retina are destroyed, leading to a decreased demand for the growth of new blood vessels. The abnormal new blood vessels then are seen to shrink away, leaving no further effect on the retina.

The ophthalmologist delivers the laser treatment through the dilated pupil with an indirect ophthalmoscope system (similar to the setup used for examination). The treatment generally takes 30-45 minutes per eye, and it often is performed in the neonatal intensive care setting. Intravenous (IV) sedation and pain relief commonly are used, and a breathing tube sometimes is necessary.

The infant usually is reexamined at 2-4 weeks. Re-treatments of problem areas occasionally are necessary. Progression of severe retinopathy of prematurity can occur despite successful cryotherapy or laser treatment. A small percentage of eyes continue on to traction retinal detachment despite adequate treatment.

What are the complications?

Continued retinopathy of prematurity with traction retinal detachment and loss of vision is the final outcome in some cases, although this risk is reduced greatly with well-timed treatment. Even if retinopathy of prematurity resolves on its own or if treatment is required, certain outcomes are common, including nearsightedness (difficulty seeing things far away). Other possible complications include amblyopia (weakened vision in one eye) or strabismus (misalignment of the eyes) with an eye deviating in (esotropia) or out (exotropia) when compared to the other eye. A pediatric ophthalmologist can address all these conditions in the follow-up stage.

Complications of laser treatment or cryotherapy include corneal burns or swelling (edema), lens burns or cataract formation, and vitreous hemorrhage or bleeding into the center cavity of the eye. As mentioned above, retinal traction and detachment can occur despite treatment.

How do you prevent it?

No proven treatment exists to prevent the occurrence of retinopathy of prematurity in infants who are at an increased risk. Careful monitoring of oxygenation status and examination of high-risk infants at 6 weeks after birth effectively identifies cases of retinopathy of prematurity that may need additional treatment. No correlation exists between lighting conditions in the nursery and the development of retinopathy of prematurity.

What research is being done?

The effect of supplemental oxygen on infants with Stage III is being studied in the STOP-ROP (Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity) trial. The initial results from this study indicate no firm beneficial effect of increasing oxygenation in Stage III of this condition. The multicenter CRYO-ROP (Cryotherapy for Retinopathy of Prematurity) study continues to observe infants in a phase III long-term follow-up study.

Links to other information

The American Academy of Pediatric Ophthalmology and Strabismus Web site has additional information on retinopathy of prematurity at http://med-aapos.bu.edu.

Informational brochures are available from The American Academy of Ophthalmology Web site at http://www.eyenet.org.

References

The Committee Classification of Retinopathy of Prematurity. An international classification of retinopathy of prematurity. Arch Ophthalmol. 1984 Aug;102(8):1130-1134.

The International Committee for the Classification of the Late Stages of Retinopathy of Prematurity. An international classification of retinopathy of prematurity. II. The classification of retinal detachment. Arch Ophthalmol. 1987 Jul;105(7):906-912.

Cryotherapy for Retinopathy of Prematurity Cooperative Group. Multicenter trial of cryotherapy for retinopathy of prematurity. Preliminary results. Arch Ophthalmol. 1988 Apr;106(4):471-479.

Cryotherapy for Retinopathy of Prematurity Cooperative Group. Multicenter trial of cryotherapy for retinopathy of prematurity. 3 �-year outcome-structure and function.Arch Ophthalmol. 1993 Mar;111(3):339-344.

About the Author

David W. Johnson, MD, is an ophthalmologist in private practice specializing in vitreoretinal surgery. He currently holds a teaching appointment as Assistant Clinical Professor in the Department of Ophthalmology at the University of Colorado Health Sciences Center in Denver. Dr. Johnson actively participates in the diagnosis and treatment of retinopathy of prematurity at several Denver area hospitals.

Copyright 2012 David W. Johnson, M.D., All Rights Reserved

Pulmonary Hypertension 

What is pulmonary hypertension?

Pulmonary hypertension (PH) occurs when there is high blood pressure in the lungs. Pulmonary hypertension is a disease that involves both the heart and the lungs. Without treatment, the blood pressure in the lungs continues to rise over time, and it eventually may result in heart failure.

What causes pulmonary hypertension?

There are two types of pulmonary hypertension: primary and secondary. Primary pulmonary hypertension (PPH) means that there is no known cause for the pulmonary hypertension. It is a disease that is still not well understood. It may be associated with certain conditions, such as HIV, diet pill use, drug abuse, or exposure to various toxins. Secondary pulmonary hypertension (SPH) means that there is a disease or a condition that caused the pulmonary hypertension to develop. The pulmonary hypertension developed after, or secondary to, the other disease. Conditions or diseases that may lead to pulmonary hypertension include congenital heart defects, persistent pulmonary hypertension of the newborn, chronic lung diseases, autoimmune diseases, and liver disease.

Who gets pulmonary hypertension?

Pulmonary hypertension may be diagnosed in infancy or later in life. Pulmonary hypertension affects people of all races and backgrounds.

How does it cause disease?

In pulmonary hypertension, the blood vessels in the lungs constrict, i.e., they become smaller than normal. This constriction causes the pressure to build up in the vessels. The heart must work harder to try and push through the blood.

What are the common findings?

Because the heart must work harder to push through the blood, people with pulmonary hypertension often feel tired and may be short of breath, especially after activity. Other complaints may include dizziness, chest pain, fainting spells, and palpitations. People with pulmonary hypertension have a wide variety of symptoms; no two patients are the same. Sometimes, the complaints seem to come and go, with certain days being better than other days.

Pulmonary hypertension is a disease that worsens over time. As the pressure in the lungs gets higher, the heart must continue to work harder. Over time, the heart may not be able to pump as well. Some patients may notice swelling of their legs and their feet. They may develop tenderness over their liver. Some people may have trouble sleeping at night, requiring two or more pillows to get comfortable. The extra fluid in their lungs may cause this discomfort. Oxygen levels in the blood may become lower than normal, causing the lips and the nails to have a bluish tint to them. The fingertips may begin to bulge in appearance. Often, there are changes in appetite, and weight loss.

How is pulmonary hypertension diagnosed?

Most patients with pulmonary hypertension have had symptoms for about two years before they are diagnosed with the condition. This is because many of the symptoms are so subtle in the beginning, and they are similar to other conditions. It is important that a patient with pulmonary hypertension selects a physician and a center with experience in treating it. To diagnose pulmonary hypertension, a doctor conducts a variety of tests. The doctor performs a complete physical exam, with careful attention to a cardiac exam. A physician checks for unusual heart sounds that may indicate higher pressure in the lungs. The doctor also looks for certain physical findings, such as enlarged neck veins or swelling, which are associated with pulmonary hypertension.

A variety of blood tests are used to check blood counts and to assess liver and kidney function. It is important to look for the presence of other diseases, such as congenital heart disease. An electrocardiogram, or an EKG, is performed to look for evidence of a thickened heart, or abnormal heartbeats. Pulmonary function tests are done to look for any underlying lung disease that may be causing the symptoms. A ventilation perfusion scan looks for clots or blockages in the blood vessels of the lungs. A six-minute walk may be performed to determine the amount of distance that can be walked in this time period. This measurement is useful to follow once treatment begins for pulmonary hypertension.

An echocardiogram, which is an ultrasound of the heart, is very important. The echocardiogram allows a doctor to look at the heart and to find any structural problems that may exist. It also allows a doctor to look at the overall heart function and size, and to estimate pulmonary artery pressures.

A right-heart catheterization is the most important test used to diagnose pulmonary hypertension and to decide treatment options. This procedure involves placing a catheter in the groin and threading it up to the right side of the heart and into the pulmonary artery. In this position, it is possible to measure directly the pulmonary artery pressures, the filling pressures of the heart, and the cardiac output. The heart catheterization also allows a doctor to exclude any type of structural abnormality. During the procedure, a variety of medications are administered. These medications may include oxygen, nitric oxide, and prostacyclin. After each medication is given, the above measures are repeated. Future treatment options are determined based on the pulmonary artery pressures that are obtained after these medications.

How is pulmonary hypertension treated?

There are a variety of treatments available for pulmonary hypertension. Treatment is specific to each patient, and is based on the information obtained during the heart catheterization. When secondary pulmonary hypertension is present, it is important to identify and treat the underlying cause, whenever possible. Sometimes, despite treatment of the cause, the pulmonary hypertension may continue. At times, treatment of the condition may cause an improvement in the pulmonary hypertension.

Medical treatment options include a variety of medications taken by mouth. Drugs may be used to remove the extra fluid that sometimes is retained with pulmonary hypertension. Such medications are called diuretics, and include lasix or aldacatone. To help the right heart squeeze better, a medicine called digoxin may be used. Patients with pulmonary hypertension are at risk for clot formation in the small vessels of their lungs. Warfarin is used in patients with pulmonary hypertension to help keep their blood thin and to reduce the risk of clot formation. Oxygen may be prescribed for patients who have low levels of oxygen in their blood. Other patients may use it while sleeping, and often feel less tired upon awakening.

Calcium channel blockers, such as Nifedipine, work to lower the pulmonary pressures in approximately 40% of children with primary pulmonary hypertension. These medications work by dilating the arteries in the lungs, causing the pulmonary pressure to fall. Sometimes, if the arteries have become rigid over time, they will not relax with the calcium channel blockers.

Epoprostenol sodium-also called prostacyclin, Flolan, or PGI2-is an intravenous medication that was approved for the treatment of primary pulmonary hypertension in 1995. This medication is similar in structure and in function to a substance made in the body called prostaglandin. It works by dilating blood vessels, by reducing clot formation, by improving cardiac output, and by slowing the growth of smooth muscle cells.

The dose of prostacyclin is increased over time to achieve maximal benefit and minimal side effects. Side effects to the medication include jaw pain, rash, flushing, stomachache, diarrhea, headache, musculoskeletal pain, and depression.

Prostacyclin is not a very stable drug; therefore, it cannot be given by mouth. Currently, prostacyclin is given intravenously through a permanent catheter placed in the large veins of the body. The catheter, called a Broviac or a Hickman, must be placed in the operating room. The medication is given 24 hours a day on a portable infusion pump. The caregivers must learn to mix the medication daily and to administer it using the pump. Interruptions in the drug delivery, even if brief, may cause a sudden rise in the pulmonary pressures, resulting in a reappearance of the symptoms, or even death.

Prostacyclin therapy is considered life long. However, the long-term result with it is good, with the survival rate predicted to be over 80% in a 5-year time period.

The surgical treatment for pulmonary hypertension is a lung transplant, which permanently will rid a patient of the disease.

What are the complications?

Complications to therapy with prostacyclin include infection in the blood or at the site of the catheter, catheter fracture or displacement, and/or pump malfunction. Despite the current delivery method and the possible complications, children who are receiving intravenous prostacyclin tolerate it well. The vast majority of children attend school and participates in age-appropriate activities. Once treatment begins, their level of energy greatly increases.

Some patients with pulmonary hypertension undergo lung transplantation. There are complications related to a lung transplant that include rejection of the transplanted organ, and side effects to the transplant medications. Often, timing of the transplant is difficult to predict.

The major complication of pulmonary hypertension is right-heart failure. As the pressure in the lungs continues to build over time, the heart becomes a less effective pump. The right heart increases in size, and it eventually compromises the left heart function. Additional complications may include low platelet counts and severe bleeding in the lungs (called pulmonary hemorrhage). Without treatment, primary pulmonary hypertension is a fatal disease.

How can pulmonary hypertension be prevented?

Currently, primary pulmonary hypertension cannot be prevented. Research is being conducted to identify genetic markers of this disease, which would allow early screening of those individuals at risk for it based on their family history. Presently, it is recommended that immediate family members be followed by an echocardiogram every five years, or as needed, to assist with early diagnosis and treatment.

In secondary pulmonary hypertension, treatment of the underlying condition is vital. For a child with a congenital heart defect, it is necessary to stay in close contact with a cardiologist. The surgical repair of the heart defect must be considered based on the child's condition.

Routine recommendations for children with pulmonary hypertension include annual flu vaccines, the use of antibiotics for significant upper respiratory tract infections, the treatment of a fever of 101 degrees or greater, a high fiber diet to prevent constipation and straining with bowel movements, and oxygen for airline travel.

What research is being done?

In recent years, a great deal of research has been devoted to pulmonary hypertension. Newer therapies include treatment with a more stable form of prostacyclin, called UT-15. This medication is injected beneath the skin in the abdomen, and it does not require a central line. The half-life of the medication is longer; therefore, the risk of complications with an abrupt halt in delivery is lower. Clinical trials of this medication are currently underway in the United States and in Europe.

An investigational gas, called nitric oxide, is being examined for its role in the treatment of pulmonary hypertension. This gas is a powerful dilator of the blood vessels in the lungs. It also works to prevent the platelets from clumping together. Many patients with pulmonary hypertension have received this gas in the hospital, and some patients have shown a lowering of their pressures and an improvement in their symptoms. A small number of patients have gone home with nitric oxide. Though the gas remains investigational, in the future, it may be more common to treat patients at home with it.

Endothelin blockers and thromboxane inhibitors are investigational medicines that would block the narrowing of the blood vessels (vasoconstriction) that occurs in pulmonary hypertension. If the vasoconstriction is blocked, it is thought that the resultant opening (vasodilation) of the blood vessels would lower the pulmonary artery pressure.

An oral form of prostacyclin is being tested for its use in treating pulmonary hypertension. This drug is similar to intravenous prostacyclin. It is a more stable form of prostacyclin, and can therefore be given as a pill taken several times a day.

Links to other information

For more information on pulmonary hypertension, log on to:http://www.phassociation.com/.

References

Barst RJ. Recent advances in the treatment of pediatric pulmonary artery hypertension.Pediatric Clinics of North America 1999;46(2):331-45.

Ivy DD, Wolfe RR, Abman SH. Congenital heart disease. In Peacock AJ, ed. Pulmonary circulation: a handbook for clinicians. New York: Chapman and Hall Medical, 1996:449-66.

Ivy DD, Neish SR, Abman SH. Regulation of the pulmonary circulation. In Garson A, Bricker JT, Fisher DJ, Neish SR, eds. The science and practice of pediatric cardiology. Baltimore: Williams and Wilkins, 1998:329-47.

About the Author

Dr. Ivy is an assistant professor of pediatrics at the University of Colorado Health Sciences Center in Denver, Colorado, where he also serves as co-director of the pediatric cardiology fellowship program. Additionally, Dr. Ivy is director of the pediatric pulmonary hypertension program at the Pediatric Heart Lung Center. Board certified in both pediatrics and pediatric cardiology, his major scientific interests include pulmonary hypertension, pulmonary vascular biology, fetal circulation, cardiac intensive care, cardiac transplantation, and cardiac catheterization. Dr. Ivy has been instrumental in procuring grant monies for pulmonary and cardiac research. He is an accomplished clinician and investigator, authoring numerous papers, book chapters, presentations, scholarly reviews, and abstracts, for which he has been recognized with awards. Dr. Ivy is active in professional societies and institutional committees, in addition to participating on various journal review boards and partaking in visiting professorships.

Trish Eells, RN, MS, CPNP, is the coordinator for the Pediatric Heart Lung Center at The Children's Hospital, and a nurse practitioner in the Pulmonary Hypertension Program. The Pulmonary Hypertension Program treats children with both primary and secondary pulmonary hypertension, and offers a variety of approved and experimental therapies.

Pulmonary Hypertension (PPH & SPH) 

Overview

What is pulmonary hypertension?

Pulmonary hypertension (PH) is high blood pressure in the blood vessels that line the lungs. Because the vessels of the lung and the heart are physically connected, this makes blood pressure in the heart rise and forces the heart to work harder than normal. Pulmonary blood pressure rises when the blood vessels in the lungs get narrow and stiff.

If the condition goes untreated, the heart cannot push hard enough against the lung pressures and not enough blood reaches the lungs, which may eventually lead to heart failure.

What causes pulmonary hypertension in children?

There are several reasons a child could have pulmonary hypertension. Congenital Heart Defects are a common cause of hypertension in children.

Other causes include:

  • Lung disease
  • Sleep apnea
  • Altitude effects
  • Blood clotting disorders
  • Autoimmune diseases
  • Liver disease
  • Familial disease

In the above cases, the pulmonary hypertension is secondary because the rise in blood pressure was the result of another condition. This is known as secondary pulmonary hypertension (SPH).

Other times, there is no underlying reason causing the blood pressure increase. This is called primary pulmonary hypertension (PPH), also known as idiopathic pulmonary hypertension. Idiopathic pulmonary hypertension tends to affect girls more than boys. Children of any age can develop the condition.

Programs & Treatments

How is pulmonary hypertension treated?

There are many treatment options for kids and young adults with pulmonary hypertension (PH).

If the hypertension is secondary (meaning it is the result of another condition), the best treatment plan is to repair the underlying heart condition when possible. Treatments forcongenital heart defects range from careful monitoring by a doctor to surgery.

Pediatric cardiologists use a variety of medications to treat pulmonary hypertension. Select children’s hospitals participate in clinical trials to develop new medical treatments for kids with pulmonary hypertension.

Living with pulmonary hypertension

There is currently no cure for many forms of pulmonary hypertension, although close follow-up by a cardiologist with experience in treating PH can help your child live as normal a life as possible. The cardiologist will monitor your child's pulmonary pressures and response to medications.

Signs & Symptoms

What are the signs and symptoms of pulmonary hypertension?

Children with pulmonary hypertension (PH) feel short of breath and tired, especially after activity. Symptoms of pulmonary hypertension can be confused with other conditions like asthma, sometimes leading to a delay in diagnosis and treatment.

Other symptoms include:

  • Blue tint to the skin, also called cyanosis
  • Swelling of the feet and ankles
  • Dizziness
  • Fainting
  • Recurrent nausea
  • Exercise intolerance
  • Chest pain

Diagnosis & Tests

How is pulmonary hypertension diagnosed?

If us suspects that your child has pulmonary hypertension, he or she will likely order more tests to confirm the diagnosis. Common tests include:

  • Blood tests
  • Chest x-ray
  • EKG
  • ECHO
  • Exercise or stress test
  • Diagnostic cardiac catheterization
  • Lung CT Scan
  • Abdominal ultrasound
  • Polysomnogram (a sleep study)
  • Ventilation/perfusion scan

Helpful Resources:

To learn more about pulmonary hypertension, visit the following websites:

Reprinted with permission from Children's Hospital Colorado 2012 All rights reserved

Retinopathy of Prematurity 

What is retinopathy of prematurity?

Retinopathy of prematurity is a disease of the retinal blood vessels that can occur in extremely premature infants. The retina is the inner lining of the eye that consists of specialized nerve cells necessary for sight. Blood vessels in the retina develop first from the optic nerve area at the very back of the eye, with growth of blood vessels within the retina toward the front of the eye. The normal process of retinal blood vessel growth is stopped in premature infants, leading to the formation of abnormal blood vessels and scar tissue.

What causes retinopathy of prematurity?

Researchers have discovered several risk factors for retinopathy of prematurity. One of the most significant risk factors is prematurity (born before 34 weeks of pregnancy). Another risk factor is low birth weight (less than 1500 grams or approximately 3 pounds). In the past, extremely high levels of oxygen therapy necessary for the survival of premature infants were thought to contribute to retinopathy of prematurity. However, with the precision of modern oxygen monitoring techniques now available, it is unlikely that excess oxygen causes this disease. Retinopathy of prematurity also has been reported in infants who receive no supplemental oxygen. In experiments, retinopathy of prematurity has been produced in animals by conditions simulating low-oxygen levels.

Who gets retinopathy of prematurity?

Infants weighing less than 1250 grams have an approximately 50% chance of developing some retinopathy of prematurity. As birth weight decreases, the likelihood of retinopathy of prematurity increases. More than 90% of infants weighing less than 750 grams develop retinopathy of prematurity. The same trend holds true in relation to when an infant is born. Approximately 30% of infants after 32 weeks of pregnancy develop retinopathy of prematurity, and greater than 80% of infants less than 28 weeks of pregnancy develop retinopathy of prematurity.

How does it cause disease?

The growth of normal retinal blood vessels may be stopped, with normal vessels only growing to the middle of the retina. Beyond this, the retina has no blood vessels. Most likely, a chemical signal is then sent out that stimulates the remaining retina to grow new blood vessels. The new blood vessels are abnormal and frail, and they can bleed and scar easily. If enough of this scar tissue is present, it can pull on the retinal tissue, causing a traction retinal detachment. If the situation progresses further, a total retinal detachment can occur, leading to vision loss and, possibly, loss of the eye.

Common findings

An ophthalmologist experienced in the examination for this condition can diagnose retinopathy of prematurity. A set of dilating drops is placed in each eye to dilate the pupil. The infant is examined with an instrument to keep the eyelids open (called a lid speculum), and the retina is inspected with an ophthalmoscope. The eyeball may be manipulated to complete the examination.

The area (zone) of retinal involvement and the severity (stage) of the disease define retinopathy of prematurity.

Zone I is a circular area, roughly equivalent to the optic nerve and macular area in the center of the retina. Zone II is a larger circle surrounding this area, roughly equivalent to the middle of the retina. Zone III is the remaining anterior (or front) retina and represents an area of near maturity of the retinal vessels. Severe retinopathy of premature occurs most often in Zones I and II.

Stage I is defined as a line found at the border of the normal retina and the retina without blood vessels. Stage II is defined as a thickening of the line to form what is called a ridge. These stages probably represent growth of immature retinal cells. Stage III involves growth of new abnormal blood vessels, both on the ridge and elevated above the ridge into the vitreous (clear, gelatinous material between the retina and the lens) area. When Stage III blood vessel growth reaches a certain level, it is best treated by laser. Stage IV involves traction and detachment of the retina. This stage is divided into Stage IV-A, or detachment not involving the macula (area near the center of the retina where vision is most clear), and Stage IV-B, or detachment involving the macular or central retina. Stage V is defined as a total tractional retinal detachment for which there is often no effective treatment.

Plus disease is defined by abnormal vessels that are very tortuous, along with the findings listed above, usually indicating a situation that may require immediate treatment.Rush disease indicates unusually fast progression (1- to 2-week period) from no retinopathy of prematurity to disease that requires treatment.

Most retinopathy of prematurity does not require treatment and resolves on its own. The risk of developing disease that requires treatment is highly related to low birth weight and prematurity. In infants weighing less than 750 grams (approximately 1 1/2 pounds), 15% to 20% of infants developing any retinopathy of prematurity do go on to disease that requires treatment. For infants weighing greater than 1250 grams (approximately 2 3/4 pounds), only 2% of infants developing retinopathy of prematurity go on to disease needing treatment. Some retinopathy of prematurity that develops in the remainder of the infants ultimately resolves on its own.

Treatment

Earlier studies found a beneficial effect of cryotherapy (freezing treatment) to the peripheral areas of the retina (areas without blood vessels) in healing retinopathy of prematurity. Now, cryotherapy has been replaced largely by laser treatment. In both treatments, the peripheral areas of the retina are destroyed, leading to a decreased demand for the growth of new blood vessels. The abnormal new blood vessels then are seen to shrink away, leaving no further effect on the retina.

The ophthalmologist delivers the laser treatment through the dilated pupil with an indirect ophthalmoscope system (similar to the setup used for examination). The treatment generally takes 30-45 minutes per eye, and it often is performed in the neonatal intensive care setting. Intravenous (IV) sedation and pain relief commonly are used, and a breathing tube sometimes is necessary.

The infant usually is reexamined at 2-4 weeks. Re-treatments of problem areas occasionally are necessary. Progression of severe retinopathy of prematurity can occur despite successful cryotherapy or laser treatment. A small percentage of eyes continue on to traction retinal detachment despite adequate treatment.

What are the complications?

Continued retinopathy of prematurity with traction retinal detachment and loss of vision is the final outcome in some cases, although this risk is reduced greatly with well-timed treatment. Even if retinopathy of prematurity resolves on its own or if treatment is required, certain outcomes are common, including nearsightedness (difficulty seeing things far away). Other possible complications include amblyopia (weakened vision in one eye) or strabismus (misalignment of the eyes) with an eye deviating in (esotropia) or out (exotropia) when compared to the other eye. A pediatric ophthalmologist can address all these conditions in the follow-up stage.

Complications of laser treatment or cryotherapy include corneal burns or swelling (edema), lens burns or cataract formation, and vitreous hemorrhage or bleeding into the center cavity of the eye. As mentioned above, retinal traction and detachment can occur despite treatment.

How do you prevent it?

No proven treatment exists to prevent the occurrence of retinopathy of prematurity in infants who are at an increased risk. Careful monitoring of oxygenation status and examination of high-risk infants at 6 weeks after birth effectively identifies cases of retinopathy of prematurity that may need additional treatment. No correlation exists between lighting conditions in the nursery and the development of retinopathy of prematurity.

What research is being done?

The effect of supplemental oxygen on infants with Stage III is being studied in the STOP-ROP (Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity) trial. The initial results from this study indicate no firm beneficial effect of increasing oxygenation in Stage III of this condition. The multicenter CRYO-ROP (Cryotherapy for Retinopathy of Prematurity) study continues to observe infants in a phase III long-term follow-up study.

Links to other information

The American Academy of Pediatric Ophthalmology and Strabismus Web site has additional information on retinopathy of prematurity at http://med-aapos.bu.edu.

Informational brochures are available from The American Academy of Ophthalmology Web site at http://www.eyenet.org.

References

The Committee Classification of Retinopathy of Prematurity. An international classification of retinopathy of prematurity. Arch Ophthalmol. 1984 Aug;102(8):1130-1134.

The International Committee for the Classification of the Late Stages of Retinopathy of Prematurity. An international classification of retinopathy of prematurity. II. The classification of retinal detachment. Arch Ophthalmol. 1987 Jul;105(7):906-912.

Cryotherapy for Retinopathy of Prematurity Cooperative Group. Multicenter trial of cryotherapy for retinopathy of prematurity. Preliminary results. Arch Ophthalmol. 1988 Apr;106(4):471-479.

Cryotherapy for Retinopathy of Prematurity Cooperative Group. Multicenter trial of cryotherapy for retinopathy of prematurity. 3 �-year outcome-structure and function.Arch Ophthalmol. 1993 Mar;111(3):339-344.

About the Author

David W. Johnson, MD, is an ophthalmologist in private practice specializing in vitreoretinal surgery. He currently holds a teaching appointment as Assistant Clinical Professor in the Department of Ophthalmology at the University of Colorado Health Sciences Center in Denver. Dr. Johnson actively participates in the diagnosis and treatment of retinopathy of prematurity at several Denver area hospitals.

Copyright 2012 David W. Johnson, M.D., All Rights Reserved

Rheumatic Fever, Acute 

What is acute rheumatic fever?

Acute rheumatic fever is a disease that affects the body's connective tissue and central nervous system. It results from a throat or tonsil infection that is caused by group A beta hemolytic streptococci, commonly referred to as "strep throat." Rheumatic fever is a side effect of the strep infection, not part of the infection itself. Rheumatic fever affects the heart; the joints; the skin, i.e., an unusual rash called erythema marginatum, and subcutaneous nodules, which are small, pea-sized nodules under the skin; or the central nervous system, i.e., Sydenham's chorea, commonly known as St. Vitus dance.

Common Causes

Rheumatic fever is the result of a streptococcal sore throat; therefore, it is important to prevent and/or treat this infection. Usually, antibiotic treatment prevents rheumatic fever. Although the exact way in which rheumatic fever develops is not understood, it is believed that the patient who develops rheumatic fever (about 3% of patients with untreated strep throat) have an abnormal immune response to some part of the group A streptococcus. Most likely, this is because some parts of the bacteria are almost identical to certain parts of the human heart and other human tissues. This is thought to result in the body essentially reacting against itself (called "auto-immunity" or "antigenic mimicry").

Who gets rheumatic fever?

Group A streptococcal upper respiratory tract infections are very common among children. Most patients who develop rheumatic fever are in the age range between 5 and 15 years. It is rare for very young children (less than three or four years of age), as well as adults, to develop rheumatic fever, even if they have a strep infection. However, young adults are susceptible. While there is a genetic predisposition (i.e., it "runs in families") to developing rheumatic fever, reasons for this are not completely understood.

How does it cause disease?

The symptoms of a strep infection include a sudden onset of a very sore throat with a high fever. Nausea and abdominal pain may occur in children. However, many patients who develop strep throat do not develop these classic symptoms. An abnormal immune response by the body, following a period of approximately 10 days to 2 weeks after the strep infection, is believed to cause the clinical signs of rheumatic fever.

The signs and symptoms of rheumatic fever depend on which body systems are affected. In approximately half of the patients with rheumatic fever, the heart is involved. Patients may develop the symptoms of heart failure, such as shortness of breath. Leaking ("incompetence") of one of the heart valves results in a heart murmur, which can be heard by a physician.

The arthritis of rheumatic fever is not chronic arthritis. It usually occurs in 60% to 70% of patients. It usually affects large joints, such as elbows, wrists, shoulders, ankles, and knees. It rarely affects the fingers, the spine, or the hips. It is called a "migratory arthritis" because in the untreated patient, it will affect one joint one day and move on to another joint a day or so later. It is important that the migratory nature of the arthritis be documented before making this diagnosis.

Sydenham's chorea, or St. Vitus dance, is much less common than arthritis or rheumatic heart disease, occurring in only 10% to 15% of patients. Patients may develop clumsiness. Emotional changes often may occur. Typically, findings in children are first noted either at the dinner table, where they find it difficult to use utensils and frequently spill milk, or by a schoolteacher, who notices emotional changes and a deterioration in handwriting and other fine motor skills.

The rash of rheumatic fever, called erythema marginatum, is uncommon, and it is seen in only about 5% to 8% of patients. The rash occurs mainly on the trunk; is circumscribed, i.e., confined to a limited space; is not painful; and does not itch.

The subcutaneous nodules of rheumatic fever also are very rare, except in those individuals who have severe heart valve involvement. These are small, pea-sized nodules, which are often on the back of the hand over the knuckles and on the outside of the elbow joint.

How is rheumatic fever diagnosed?

Physicians diagnose rheumatic fever based on a clinical examination, since there is not a single laboratory test that can diagnose it. Clinical criteria, called the Jones Criteria, take into account the most common findings of patients with rheumatic fever. Thus, physicians may use the Jones Criteria to diagnose rheumatic fever. However, the Jones Criteria can be difficult to apply; many diseases may appear to fulfill the Jones Criteria, but are not rheumatic fever. There are five major criteria (carditis, arthritis, chorea, erythema marginatum, and subcutaneous nodules). Less specific findings, called minor criteria, include fever, aching (not arthritis) of the joints, and several very non-specific laboratory tests. The presence of two major criteria or one major and two minor criteria, plus a recent strep infection, should lead to a possible diagnosis of rheumatic fever.

Treatment

Initially, the treatment of rheumatic fever focuses on the therapy of the group A streptococcal infection, which still may be present at the time that rheumatic fever develops, and, then, it focuses on the clinical symptoms of the disease. Treatment of the sore throat in patients with rheumatic fever is very important. Most often, penicillin (or sometimes another antibiotic) is used to treat the sore throat. Penicillin may be given either orally or by injection.

The treatment of the heart disease depends on its severity. Often, either corticosteroids or aspirin are used. If a patient shows signs of a failing heart ("congestive heart failure"), drugs that strengthen the contraction of the heart, and drugs that help to eliminate excess fluids from the body (diuretics), may be used. While steroids may help the acute phase of the heart disease, if there is heart failure, they do not prevent the development of heart valve disease.

The arthritis of rheumatic fever, while very painful, can be controlled with aspirin ("salicylates"). In fact, once aspirin is started in patients with rheumatic fever, it is common for the arthritis to completely subside in 12 to 24 hours. It is thought that if the arthritis does not disappear quickly after beginning treatment with aspirin, the diagnosis of rheumatic fever should be questioned. Steroids are almost never used to treat the arthritis of rheumatic fever. In the acute phase, the pain of the arthritis can be controlled by any number of pain medications available to a physician.

The treatment of Sydenham's chorea is more difficult. Specific medications are available that help to reduce the uncontrollable neurological movements of this disease. However, the signs and symptoms of Sydenham's chorea may persist as long as several months, even when appropriate medications are used.

Treatment is not needed for either the rash or the small, painless subcutaneous nodules.

Complications

The main complication of rheumatic fever is rheumatic valvular heart disease. Approximately 50% (but in some instances, more) of patients will develop scarring of the heart valves. Usually, it is the mitral valve (between the left atrium and the left ventricle), but, sometimes, it involves the aortic valve (the valve that directs blood to the body). Rarely, the valves on the right side of the heart (those to the lungs) are affected. When the heart valves become so damaged and cause heart failure, surgery is needed. Often, an artificial heart valve is required. The arthritis associated with rheumatic fever disappears, and it is not a chronic complication. Sydenham's chorea may recur in patients who have rheumatic fever, but it usually is not a continuing problem. The other symptoms do not cause long-term complications.

Prevention

There are two types of prevention for rheumatic fever: primary prevention and secondary prevention.

Primary prevention means the appropriate diagnosis and treatment of strep throat, thereby preventing an initial attack of rheumatic fever. Usually, this treatment is with penicillin or similar antibiotics (e.g., amoxicillin). Other drugs, such as erythromycin or some of the cephalosporins, can be used effectively. Erythromycin is used mainly for those individuals who are allergic to penicillin. Penicillin may be given either orally for 10 days or by injection. Although shorter courses (less than 10 days) of antibiotics are thought to be equally effective, most professional organizations recommend the full 10 days of oral antibiotic therapy.

Secondary prevention means the prevention of a second or third attack of rheumatic fever in an individual who has already had the disease. In contrast to primary prevention, which is given only at the time of a strep infection, secondary prevention is continuous. The duration of secondary prevention depends on numerous factors; however, it is usually for at least five years and, frequently, for longer periods of time. Secondary prevention requires careful consideration by a physician. These patients may be given either oral penicillin on a daily basis or injections of a long-acting form of penicillin, called benzathine penicillin G, on a monthly basis. Studies have shown that the injection, while painful in some cases, is more effective in preventing patients from recurrent rheumatic fever. Oral sulfa drugs also may be used for secondary prevention, but not primary prevention, of rheumatic fever.

Research

Research in rheumatic fever, which still is a major cause of heart disease in many parts of the world, focuses on two objectives. The first objective is to more completely understand how the strep infection starts the reaction that results in rheumatic fever. The mechanisms that cause rheumatic fever remain poorly understood. Since control of any disease process is most effective when the cause of the disease is known, this research is important. Whether rheumatic fever is affected by a particular kind of streptococcus that causes the throat infection or whether there are genetic predispositions to developing rheumatic fever remains to be fully understood.

Another current and important area of research is the use of a vaccine to prevent strep infections. Public health programs that use vaccines (e.g., measles) successfully are very cost effective. Unfortunately, the preparation of a vaccine against group A streptococci is more difficult because some parts of streptococcus are similar to some parts of human tissue, and because there are many different types of group A streptococci. A cost-effective vaccine against many types of streptococci would have important public health implications. Studies to develop test vaccines are in progress.

Research is important to better understand how a strep infection is spread, why this infection most often affects children, and how to best diagnose and treat the infection in a cost-effective manner.

About the Author

Dr. Kaplan has been interested for many years in streptococcal infections and their reguelae. He is a renowned authority on Acute Rheumatic Fever and the associated complications.

Copyright 2012 Edward L. Kaplan, M.D., All Rights Reserved

Ringworm (Tinea) 

What is tinea (or a ringworm infection)?

Tinea, also referred to as ringworm, is a common fungal infection of the skin. Fungi are widespread in the environment. There are thousands of fungal species, but only approximately 200 species regularly infect humans, causing either superficial or deeper infections, and, occasionally, both.

The body area affected by the infection classifies tinea. "Tinea capitis" is a superficial fungal infection involving the scalp, while "tinea corporis" is a superficial fungal infection involving the trunk, limbs, and face. "Tinea manuum," or ringworm, is an infection of the hands, whereas "tinea pedis" is a fungal infection the feet. "Tinea unguium," or "onychomycosis," affects the nails.

What causes tinea?

Dermatophytes, a group of fungi, cause superficial fungal infections, also known as fungal dermatosis, dermatophytosis, ringworm, or tinea.

Who gets tinea?

A dermatophyte infection of the scalp (tinea capitis) and of the general skin surface (tinea corporis) is very common during childhood. Because tinea capitis is no longer reportable to the Health Department, the true incidence is unknown. Probably, the highest incidence of tinea capitis occurs among children who are 1 to 10 years of age.

A dermatophyte infection of the hands (tinea manuum) and of the feet (tinea pedis) is more common in adulthood than in childhood. Tinea pedis is probably the most common dermatophytosis worldwide; up to 70% of the population has had this infection. Tinea pedis occurs in males and in females, and the incidence of the infection increases with age. Most cases of tinea pedis occur after puberty. Nail infection (tinea unguium) is unusual during the first two decades of life.

Tinea most commonly occurs in warm, humid, tropical climates. Certain risk factors may increase the likelihood of a person developing an infection. These predisposing risk factors include some systemic disorders and certain environmental and occupational sources. Systemic diseases that may predispose individuals to tinea infections include diabetes mellitus and those with compromised immune systems.

Environmental and occupational risk factors include animal contact, especially with kittens, puppies, and horses; contact sports; use of gymnasiums and swimming pools; and outdoor occupations.

How do dermatophytes cause disease?

Dermatophytes cause infection by invading keratin, which is a protein in the outermost layer of the skin, in the hair, and in the nails. Direct contact with infected animals, soil, or humans causes tinea.

What are the common findings?

Many patients with a mild tinea infection may have no symptoms. Symptoms include itching and burning, especially when the body, hands, or feet are involved. Patients also may complain of tenderness, swelling, and pain in the affected area. The more severe the infection, the worse the symptoms may become.

Tinea capitis appears as a combination of hair breakage and loss, redness, and scaling of the scalp. The extent of scalp redness and scaling varies from person to person. There can be minimal scaling and redness that resembles a mild form of dandruff, or there can be marked redness, swelling, puss formation, and hair loss.

Some patients have a strong reaction in their scalp to the dermatophyte, and may develop tenderness, pain, and swelling of the lymph nodes in their neck. Rarely, patients have an elevated white blood cell count. A long-term, severe case of tinea capitis that is not treated adequately may lead to permanent hair loss and scarring.

Tinea corporis is a dermatophyte infection of the general body surface. Physical examination reveals individual and grouped round patches of red, scaly skin. These round patches, or "rings," (hence the term, "ringworm") progressively enlarge and migrate outwards from the center of the ring to form expanding rings. As the ring expands, the center of the ring often becomes clear. Tinea corporis is similar in its appearance virtually anywhere on the body. Tinea faciei appears on the face, and tinea cruris is an infection that involves the upper thigh and groin area.

A tinea infection of the hands primarily involves the palms, with a dry scale often looking like small circular areas of scale. Occasionally, a tinea infection of the hands can have small blisters on the palms. For unknown reasons, a tinea infection of just one hand, in conjunction with an infection of both feet, is the most common pattern.

Usually, tinea pedis is red and scaly between the toes and on the soles. The skin of the web spaces between the toes can become red, softened, and swollen. The redness and scaling can spread to the side of the foot. Blister formation is more common on the feet than with the other tinea infections.

A tinea infection of the nails (tinea unguium or onychomycosis) invades the nail plate, and causes the nail to lift, thicken, discolor, and become fragile.

How is tinea diagnosed?

An appointment should be made with a primary care provider or a dermatologist for diagnosis and treatment, if an individual experiences the following: hair loss, accompanied by redness and scaling of the scalp; patches of red, circular, scaly skin on the body, hands, or feet; blisters on the palms and soles; or nail changes.

The health care provider will sample a small piece of scale or blister, hair, or nail, and analyze it under the microscope for a fungal organism to establish the diagnosis. This test is called a potassium hydroxide preparation (KOH). Occasionally, the fungal branches and spores characteristic of the infection cannot be seen under the microscope, and a fungal culture will be sent to the laboratory to establish the correct diagnosis. It may take two to four weeks to obtain the fungal culture results.

How is tinea treated?

Tinea infections are treated with topical or systemic oral antifungal medications, and, occasionally, both. Anytime the infection involves the hair or the nails, an oral antifungal medication must be used. When only the skin is involved, a topical antifungal medication is usually sufficient, if the infection does not cover a large body area.

If a large percentage of the body surface is involved, an oral and topical antifungal medication may be prescribed. Antifungal drugs have become increasingly effective in the treatment of tinea infections, especially the newer antifungal drugs on the market. Experience with most of the newer antifungal drugs is limited to patients over 12 years of age.

Griseofulvin was the first significant oral antifungal on the market used to treat tinea infections. It continues to be the preferred drug in the pediatric population because of its long history of effectiveness, its low cost, and its proven safety profile. Griseofulvin is used frequently to treat tinea capitis and tinea corporis in children. It also is used to treat tinea manuum and tinea pedis.

Common side effects of griseofulvin include headaches and gastrointestinal upset. Rarely, allergic rashes from griseofulvin occur. Griseofulvin may make a patient more sensitive to the sun, and the patient is at risk of developing a photosensitive rash or a sunburn.

Many very effective topical antifungal medications are available over the counter, and they can be used one to two times daily to clear infections (except tinea capitis and onychomycosis). Blistering skin eruptions on the palms and soles should be treated with cool compresses, such as Burrow's solution. Large blisters should be opened and drained for comfort.

The newer antifungal medications on the market, namely Itraconazole and Terbinafine, are very effective for nail infections. Your primary care provider will help you to decide which topical and/or oral antifungal medication is most appropriate for your child.

What are the complications?

Tinea infections may lead to secondary bacterial infections, hair loss, and scarring. Occasionally, patients will have swollen lymph nodes that may persist

How is tinea prevented?

A cool, dry environment, as well as avoiding exposure to infected animals, soil, and humans, may help reduce infections. Good personal hygiene, thorough drying of the hands and feet, absorbent socks, and wearing breathable natural materials may help prevent infection. For patients that experience recurrent tinea pedis infections, light, ventilated footwear or sandals and a medicated foot powder may be helpful. Sprays or powders with antifungal activity applied into footwear also may help prevent reinfection. Treatment is usually permanent, although the infection may recur.

References

Buttaro, T., Trybulski, J., Bailey, P., Sandberg-Cook, J.: Primary Care: A Collaborative Practice, ed. 1, St. Louis, 1999, Mosby, Inc.

Hurwitz, S.: Clinical Pediatric Dermatology, ed. 2., Philadelphia, 1993, W.B. Saunders Company

Weston, W.L., Lane, A.T., and Morrelli, J.G.: Color Textbook of Pediatric Dermatology, ed. 2, St. Louis, 1996, Mosby, Inc.

About the Author

Dr. Capin received her medical education and completed her dermatology residency at the University of Colorado. A Fellow of the American Academy of Dermatology, she is board certified in Dermatology.

She has been in practice at the Aurora/Parker Skin Care Center for twelve years, and recently opened CARA MIA Medical Day Spa in Parker, Colorado. She enjoys teaching, and often has students with her during office hours.

She is experienced in medical and surgical dermatology, as well as cosmetic dermatology. She is often asked to participate in conferences, and speaks internationally.

Copyright 2012 Leslie Capin, M.D., All Rights Reserved

Roseola 

What is roseola?

Roseola, also known as "roseola infantum" or "exanthem subitum," is a viral infection that is characterized primarily by a high fever and a rash.

What causes roseola?

Human herpesvirus type 6 (HHV6) and, sometimes, human herpesvirus type 7 (HHV7) cause roseola. Both are members of the herpesvirus family of viruses.

Who gets roseola?

Almost all children are infected during early childhood with HHV6 and HHV7, but only about one-third of children develop signs of roseola. The peak age for developing roseola is 6 to 15 months of age. More than 95% of cases occur in children younger than 3 years of age.

How do HHV6 and HHV7 cause disease?

HHV6 and HHV7 are transmitted from person-to-person by direct contact or by contaminated secretions of the nose and the mouth. These viruses are spread through the blood throughout the body, which causes the rash.

What are the common findings?

The majority of children with roseola develop a characteristic illness with a very high fever (from 100F to 103F) for approximately three days, which is followed by the onset of a rash the day that the fever resolves. In contrast to what is usually expected with such a high fever, most children, during the fever, behave quite normally and continue with their usual play activities. Some infants may become irritable and have a decreased appetite. In classic cases, the rash typically appears within 24 hours after the fever resolves and then fades over one to three days; however, only approximately 25% of infected children may actually develop the rash.

How is roseola diagnosed?

Roseola is diagnosed primarily on the characteristically high fever followed by the development of the rash once the fever resolves. Unfortunately, this makes it very difficult to diagnose roseola during the course of the fever because, typically, there are no other symptoms.

There is a blood test that is available, but, usually, this is not used for diagnosis because either the illness has resolved completely after a few days, or the diagnosis can be made by the physician with some certainty because of the characteristic high fever followed by the rash.

How is roseola treated?

There is no specific treatment for roseola. Antibiotics are not helpful because a virus causes roseola. Viruses cannot be treated with antibiotics. The disease is usually mild with complete recovery. Fever should be treated with acetaminophen or ibuprofen.

What are the complications?

The major complication of roseola in children is the development of febrile seizures. During the time of the high fever, especially early in the infection, children may have seizures that are caused by the very high fever. Febrile seizures occur in 2% to 3% of all children, and usually are a problem between 6 months and 3 to 4 years of age. Many cases of febrile seizures that occur only once in a child are probably due to roseola.

How can roseola be prevented?

A vaccine for roseola is not available. There is very little information on how to prevent roseola; however, outbreaks are uncommon. The spread of roseola can be prevented by minimizing exposure to children who have symptoms of the disease, and by good handwashing after exposure to the disease.

What research is being done?

Research is being conducted on the transmission of human herpesvirus 6 and to characterize how the virus causes roseola.

About the Authors

Hal Jenson, M.D.

Dr. Jenson graduated from George Washington University School of Medicine in Washington, DC,

He also completed a residency in pediatrics at the Rainbow Babies and Children's Hospital of Case Western Reserve University in Cleveland, Ohio, and a fellowship in pediatric infectious diseases and epidemiology at Yale University School of Medicine.

Dr. Jenson has an active research program on the biology of Epstein-Barr virus and other human and non-human primate herpes viruses.

He is active in the general pediatric and infectious diseases teaching and clinical activities of his Department and Division, is a co-editor of Nelson Textbook of Pediatrics and of Pediatric Infectious Diseases: Principles and Practice, and authors the book Pocket Guide to Vaccination and Prophylaxis.

Charles T. Leach, M.D.

Dr. Leach received his medical degree at the University of Utah School of Medicine and completed his pediatrics residency as well as a fellowship in pediatric infectious diseases at UCLA.

He is currently Associate Professor and Director of Research in the Department of Pediatrics at the University of Texas Health Science Center at San Antonio.

Dr. Leach conducts scientific research in the areas of herpes virus infections, pediatric AIDS, and infectious diseases among residents of the Texas-Mexico border.

Copyright 2012 Hal B. Jenson, M.D., and Charles T. Leach, M.D., All Rights Reserved

Rotavirus 

Read more about this here.

Rubella (German Measles) 

What is rubella?

Rubella-also commonly known as German measles or, sometimes, three-day measles because of the characteristic duration of the rash-is usually a mild and frequently inapparent infectious disease in children and adults.

A rubella infection during the first trimester of pregnancy can result in miscarriage, stillbirth, or infants with a pattern of birth defects known as "congenital rubella syndrome." Congenital rubella syndrome can result in many severe symptoms in the newborn, including poor growth, cataracts, deafness, and heart defects.

What causes rubella?

The rubella virus, an RNA virus of the rubellavirus family of viruses, causes rubella.

Who gets rubella?

Rubella was an important disease that occurred in almost all children before the introduction of the rubella vaccine. Rubella is highly contagious, and it has historically caused large outbreaks. The last epidemic of rubella in the United States occurred in 1964, and resulted in more than 20,000 infants being born with congenital rubella syndrome. Rubella is now very uncommon in the United States. Since licensure of the rubella vaccine in 1969, the incidence of rubella has decreased from an average of more than 47,000 reported cases annually to only 345 cases in 1998, with only 5 cases of congenital rubella syndrome.

How does the rubella virus cause disease?

The rubella virus is transmitted from person-to-person by direct contact or by contaminated secretions of the nose and the mouth. The rubella virus infects the lining of the nose and the upper respiratory tract. Then, it is spread through the blood throughout the body, which causes the rash.

What are the common findings?

The symptoms of rubella are variable and usually very mild. Up to one-half of persons have no symptoms at all. The typical symptoms of a rubella infection are a low-grade fever, swollen lymph nodes ("lymphadenopathy"), and a rash. Such symptoms as fatigue and poor appetite usually are not prominent.

Swollen lymph nodes of the neck are a common feature of rubella. Classically, it appears one day before the rash, and is most prominent in the lymph nodes behind the ears and in the back of the neck. After approximately 12 to 24 hours, the rash appears. The rash is a flat rash that appears all over the body and is very subtle. The rash usually disappears within two to three days. It is commonly itchy in adults, but not in children.

How is rubella diagnosed?

Rubella is diagnosed primarily on initial suspicion from the clinical and physical examination findings and confirmation by a laboratory test for rubella antibodies. The appearance of the rash usually is not characteristic. It is very difficult to be certain of the diagnosis of rubella without testing for the antibodies (i.e., IgM antibodies) found early in the illness.

How is rubella treated?

There is no specific treatment for rubella. Antibiotics are not helpful because a virus causes rubella. Viruses cannot be treated with antibiotics. Fortunately, most persons with rubella have either no symptoms or very mild symptoms, and have complete recovery. The fever should be treated with acetaminophen or ibuprofen.

What are the complications?

Complications of rubella are very uncommon in children. Young female adolescents and young women are more likely to develop transient joint aches and pains that typically affect the fingers, knees, wrists, elbows, and ankles. Usually, this lasts for one to four weeks; however, some patients develop chronic arthritis.

Approximately 1 in 3,000 cases of rubella will develop very low platelet counts, which can interfere with blood clotting. Inflammation of the brain ("acute encephalitis") may occur in approximately 1 out of 5,000 to 24,000 cases.

Progressive rubella panencephalitis is a rare chronic encephalitis associated with a persistent rubella virus infection of the brain. Approximately 20 cases have been reported, all in males who were 8 to 21 years of age at the onset of the symptoms. Most of these patients also had congenital rubella syndrome. No new cases have been described in the United States in recent years due to the routine rubella vaccination.

A major complication of rubella is congenital rubella syndrome, which occurs when a pregnant mother develops rubella and transmits the viral infection to the developing fetus. The fetus may be severely affected with poor intrauterine growth, cataracts, deafness, and heart defects. These and other findings are usually present at birth.

How can rubella be prevented?

A vaccine for roseola is not available. There is very little information on how to prevent Rubella is effectively prevented by the routine administration of the rubella vaccine, usually given as Measles-Mumps-Rubella (MMR) vaccines to all children. This vaccine is recommended beginning at 12 months of age. A single dose of the rubella vaccine results in protection of approximately 95% of children. A second dose of MMR is recommended at four to six years of age. It is not a problem if an additional dose of the rubella vaccine is given in addition to the two recommended doses.

The spread of rubella can be prevented by minimizing exposure to children who have symptoms of the disease, and by good handwashing after exposure to the disease.

Pregnant women should routinely be tested in early pregnancy for antibodies to rubella. If a pregnant woman who does not have antibodies is exposed to rubella in the first trimester, antibodies can be given as soon as possible to try to prevent infection of the fetus and congenital rubella syndrome. Pregnant women who do not have rubella antibodies should be immunized immediately after delivery.

What research is being done?

Because rubella is now extremely uncommon, and because the vaccine is extremely safe and effective in preventing rubella, there is not much research on rubella currently being performed. There is some research being conducted on the role of the rubella virus in causing arthritis that some persons develop, and on the long-term immunity of the rubella vaccine to confirm that it does provide lifelong immunity.

About the Authors

Hal Jenson, M.D.

Dr. Jenson graduated from George Washington University School of Medicine in Washington, DC,

He also completed a residency in pediatrics at the Rainbow Babies and Children's Hospital of Case Western Reserve University in Cleveland, Ohio, and a fellowship in pediatric infectious diseases and epidemiology at Yale University School of Medicine.

Dr. Jenson has an active research program on the biology of Epstein-Barr virus and other human and non-human primate herpes viruses.

He is active in the general pediatric and infectious diseases teaching and clinical activities of his Department and Division, is a co-editor of Nelson Textbook of Pediatrics and of Pediatric Infectious Diseases: Principles and Practice, and authors the book Pocket Guide to Vaccination and Prophylaxis.

Charles T. Leach, M.D.

Dr. Leach received his medical degree at the University of Utah School of Medicine and completed his pediatrics residency as well as a fellowship in pediatric infectious diseases at UCLA.

He is currently Associate Professor and Director of Research in the Department of Pediatrics at the University of Texas Health Science Center at San Antonio.

Dr. Leach conducts scientific research in the areas of herpes virus infections, pediatric AIDS, and infectious diseases among residents of the Texas-Mexico border.

Copyright 2012 Hal B. Jenson, M.D., and Charles T. Leach, M.D., All Rights Reserved

Scabies 

Read more about this here.

Separation Anxiety 

What is Separation Anxiety?

Separation Anxiety is a developmental disorder or stage where a child will get extremely agitated and anxious when separated from his or her mother, father or other care-giver.

What Causes Separation Anxiety?

Separation anxiety results from a complex set of interactions between the child and parent or care-giver. Every infant is different and every parent or care-giver is different. Therefore, every interaction between the child and the parent is different. As you and your child develop an emotional attachment toward one another, your child's temperament will partially determine how he or she will respond when there is a separation between the two of you. It is not unusual to feel guilty about this common occurrence.

In order for children to become anxious about separation, they must first establish a significant attachment with their parent. The infant accumulates an increasingly sophisticated repertoire of memories of the parent. In a short time, your child will begin to compare these memories with the faces of other people that he or she encounters. Your child may develop a certain level of stranger anxiety in addition to separation anxiety.

Who gets Separation Anxiety?

Most often, children between 7 and 18 months of age will experience varying degrees of separation anxiety. However, separation anxiety may return to children at an older age during emotional or stressful times or during unfamiliar situations.

What are the Symptoms of Separation Anxiety?

A child suffering from separation anxiety may show extreme and excessive emotion or distress when separated from his or her parent or care-giver. Since your child has already had an opportunity to bond with you, he or she may have difficulty developing a level of trust with a stranger in a short period of time.

As a child gets older, she or he may be exposed to new situations that require prolonged separation from the parent, i.e. child care or school. The child may even resist going to school or elsewhere due to the anxiety. There may also be a fear that you will be harmed. Children may occasionally develop sleep problems, including nightmares or sleep refusal.

How is Separation Anxiety Diagnosed?

Separation anxiety is a normal developmental condition. There are no tests for diagnosis. However, if anxiety persists beyond age 2 years, an evaluation with your child's health care provider may be necessary.

How is Separation Anxiety Treated?

This condition can be quite disconcerting to parents and it is important to remember that separation anxiety is fairly universal among babies and toddlers. It would be natural for a baby to get upset when he or she has been separated from the individual(s) with whom he or she has already bonded. The presence of separation anxiety should be a clue that you have succeeded in helping your child develop normally in the attachment process.

Your baby has been developing strong bonds with you over many months. It is important to realize that the treatment of separation anxiety is a gradual process, often requiring many months for your child to get comfortable with other caretakers. This is partly due to your child's developmental stage in life. In fact, developmental behaviorists recognize that children may not develop object constancy (retain a stable image of his/her mother when she is absent) until 3 years of age.

As adults, we look for familiar patterns to comfort us whenever we encounter a unique or new situation. Our task with our young child should include the establishment of familiarity. Ask a new sitter to visit with you and the baby before leaving your child alone with him or her. Visit a nursery, church or health club center ahead of time before you make the initial separation. Leave a picture of yourself as well as a familiar toy, blanket (transitional objects) or a piece of your clothing from home. However, once you leave the location, you should leave without returning repeatedly. Creative mothers have used technology to bring themselves to their baby, making home videos of themselves doing routine tasks so that they can leave the video with a caretaker.

As a child gets older, it is important to prepare him or her for separations. Let her know ahead of time that there will be a time of separation and ask her to partner with you in finding familiar objects or circumstances that will help her to feel more comfortable with the temporary separation.

References

Simons, RC; Pardes, H; Understanding Human Behavior in Health and Illness, 1977, 1985, Williams & Wilkens

Reviewed by: Noah Makovsky MD

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Sinusitis 

What is sinusitis?

Sinusitis is the inflammation of one or more of the sinuses. At birth, the maxillary sinuses are found behind each cheek bone on each side of the nose. Initially, the maxillary sinus is a very small, slit-like space. As a child grows, the maxillary sinus becomes large enough to hold at least three teaspoons of fluid. The ethmoid sinuses also are present at birth, and they are located on each side of the bridge of the nose.

The ethmoid sinuses are comprised of many individual little air spaces. At about six or seven years of age, a child begins to develop the frontal sinuses. The frontal sinuses are located in the forehead just above the eyes. A fourth sinus space exists behind the ethmoid sinuses, and it is known as the sphenoid sinus. Each sinus is carpeted by the mucosa, a thin lining of cells and mucus.

Swelling of the mucosa and fluid collection in the sinuses cause the inflammation associated with sinusitis. Each sinus also possesses a very small drainage track (about the size of a pinhead) that empties into the nose. The diagram illustrates the position of the sinuses.

Physicians have divided arbitrarily (and with some controversy) patients with sinusitis into three groups depending on the duration of the symptoms. Patients are considered to have acute sinusitis when the symptoms have been present for less than four weeks. Patients are considered to have chronic sinusitis when the symptoms have persisted longer than 12 weeks.

The term "subacute sinusitis" is used to describe the symptoms that persist longer than 4 weeks, but less than 12 weeks. However, some physicians eliminate the "subacute" group because of its similarities to acute sinusitis. Decisions about the cause of sinusitis, the appropriate diagnostic testing, and the treatment options for it are based on the duration of the symptoms.

What causes sinusitis?

Persistent blockage of the narrow sinus drainage tracks can cause sinusitis. The sinus drainage tracks can be blocked because of: 1) swelling of the mucus membrane that lines these tracks; 2) a change in the quality (thicker/stickier) of the mucus, leading to the impaired flow of the mucus; or 3) physical blockage of the drainage path due to polyps or bony abnormalities. The most common causes of blockage are from viral upper respiratory infections ("colds") and allergies.

The majority of patients develop acute bacterial sinusitis as a complication of a viral upper respiratory infection. Approximately 5% to 10% of colds ultimately lead to bacterial sinusitis. The nasal sniffing and blowing associated with colds push secretions that contain bacteria into the sinus drainage tracks. If the drainage tracks become completely and persistently blocked, a fertile environment for bacterial growth is created within the sinus. Bacteria cause the vast majority of cases of both acute and subacute sinusitis.

The cause of chronic sinusitis is not well understood. Although both patients and physicians often blame bacterial infection as the cause of chronic sinusitis, there are few data to support this theory. In fact, anecdotal experience in patients with chronic sinusitis frequently shows a poor response to antibiotics, suggesting that bacterial infection is not the main problem for these patients.

An alternate theory for the development of chronic sinusitis is based on the persistent exposure to allergens and irritants (e.g., tobacco smoke). Chronic exposure to these agents can cause either swelling of the mucus membrane or changes in the quality of secreted mucus, leading to blockage of the sinus drainage tracks and, ultimately, chronic sinusitis.

Rarely, the cause of chronic sinusitis may be because of either abnormal mucus secretions (cystic fibrosis) or abnormal mucus movement (immotile cilia syndrome). Almost all patients with immune disorders develop chronic sinusitis due to an increased susceptibility to infection.

Who gets sinusitis?

Both adults and children can get acute sinusitis; in fact, it is one of the most common complaints reported by patients to their primary care provider. Although the exact incidence is unknown, it is probably more common in children than in adults due to the high incidence of colds in children.

Chronic sinusitis is much less common than acute sinusitis. Although any healthy child can develop chronic sinusitis, exposure to year-round allergens and persistent irritants seems to increase the risk. Chronic sinusitis is found in almost all patients with cystic fibrosis, immotile cilia syndrome, or immune disorders.

What are the common findings?

Acute sinusitis can show up with either persistent (the most common form) or severe symptoms. Patients with persistent symptoms of acute sinusitis are differentiated from patients with simple colds solely on the basis of the duration of the symptoms. A simple cold usually lasts 5 to 7 days, and, even if symptoms linger, there should be improvement by 10 days. Cold symptoms that show no improvement after 10 days may be acute bacterial sinusitis.

The symptoms of cold viruses are indistinguishable from acute bacterial sinusitis. They usually include either nasal discharge (thin or thick; white, yellow, or green) or a cough (dry or wet) during both the day and the night. Some children also have bad breath, and/or swelling and darkening around the eyes. Complaints of a headache and facial pain are unusual until adolescence.

The second, less common appearance of acute sinusitis is a cold that seems more "severe" than usual. The severity is defined by the combination of a high fever (higher than 102oF) and thick white, yellow, or green nasal discharge, both of which persist for at least four days. In contrast, a simple cold may or may not have a fever; if a fever is present, it usually is present only for the first day of the symptoms. Patients with severe symptoms may have a headache or facial pain.

Chronic sinusitis is characterized by long-term nasal symptoms and/or a cough. The nasal symptoms may include a runny nose, post-nasal drainage, and/or congestion. When nasal discharge is present, it may be any color or thickness. In some patients, post-nasal drainage is the dominant symptom, leading to a cough or frequent throat clearing. Other patients develop persistent nasal congestion, leading to chronic mouth breathing and frequent complaints of a sore throat. Patients with chronic sinusitis also may complain of fatigue, nausea or vomiting (related to post-nasal drainage), decreased appetite, and impaired sleep.

In young patients with either acute or chronic sinusitis, physical examinations are rarely helpful. A physical examination is most helpful in identifying serious conditions that may make a patient more susceptible to sinusitis. For example, patients with cystic fibrosis tend to have poor growth, clubbing of the fingers, a barrel chest, respiratory findings, and nasal polyps.

Patients with immotile cilia may have respiratory findings, and about 50% of them will have situs inversus, i.e., the heart is on the right side of the body (called Kartageners syndrome). Patients with immune disorders may lack tonsillar tissue and other lymph nodes, and have poor growth, clubbing of the fingers, and other signs of infection.

How is sinusitis diagnosed?

It is important to recognize the similarity of the symptoms between acute sinusitis and simple colds, and not to over-diagnose colds as acute bacterial sinusitis. For the vast majority of patients, a diagnosis of either acute or chronic sinusitis will be based on the symptoms and their duration. Confirmation of the diagnosis by x-ray or CT images of the sinuses should be reserved for those patients who appear to have complications of sinusitis or non-typical symptoms.

Imaging studies must be used carefully, because even patients with common colds can have abnormal images of the sinuses. In general, imaging studies are the most helpful when they are normal and can be used to eliminate the diagnosis of sinusitis.

How is sinusitis treated?

In a joint publication, the Centers for Disease Control (CDC) and the American Academy of Pediatrics (AAP) outlined that "judicious antimicrobial therapy for bacterial sinusitis depends on limiting the use of these agents to children who have a high likelihood of benefiting from treatment."

Amoxicillin is the antibiotic of choice for most patients with acute bacterial sinusitis because of its effectiveness, safety, and low cost. Although amoxicillin is the preferred first-line therapy for acute sinusitis, a more powerful antibiotic may be appropriate in the following situations:

  • A failure to respond to amoxicillin after two to three days of therapy
  • The use of other antibiotic therapy in the last 30 days
  • A high prevalence of antibiotic resistance in the community
  • The appearance of severe sinusitis
  • The possibility of sinusitis with complications
  • The presence of chronic sinusitis

Alternatives to amoxicillin include amoxicillin plus amoxicillin-clavulanate (Augmentin) or an oral cephalosporin. For most patients with acute bacterial sinusitis, the duration of antibiotic therapy should be 10 to 14 days.

In patients with chronic sinusitis, antibiotic therapy is controversial. Patients who do not improve with second-line antibiotics probably do not have an infection as the cause of their chronic symptoms and should not be retreated. If antibiotics have not been used in a patient with chronic sinusitis, it may be reasonable to consider one treatment course with a second-line antibiotic. Antibiotic therapy in patients with chronic sinusitis probably should be limited to three weeks; however, there are no data regarding the optimal duration of therapy for these patients.

Potential therapies that may be used in conjunction with antibiotics for acute and chronic sinusitis include saline sprays, topical intranasal steroids, antihistamines, and topical and oral decongestants. However, there are no studies that have examined systematically these therapies in patients with either acute or chronic sinusitis. Patients with underlying allergic disease are the most likely to benefit from antihistamines and topical nasal steroid sprays. Anecdotal experience suggests that some patients with chronic sinusitis benefit from daily nasal irrigation with saline.

Saline nasal washes are safe, inexpensive, and probably worth a try in these patients. Topical or oral decongestants can relieve pain and obstruction in some patients. Topical decongestants have a potential to be addictive, and their use should be limited to three to five days.

What are the complications?

Complications of sinusitis, which are rare in children, involve the spread of infection to nearby structures, including the eye, the facial and the skull bones, and the brain. Infection of the eye-the most common complication-causes redness of the eyelids, limitation in eye movement, bulging of the eye, and a loss or impairment of vision. Infection that spreads into the bony structures surrounding the sinuses causes obvious swelling and tenderness over the infected bone.

Infection can spread to the brain or the meninges (membrane around the brain). Any patient with a deep-seated headache, pain with eye movement, neck stiffness, a change in vision, localized swelling, or toxic appearance should be evaluated for potential complications of sinusitis.

How can sinusitis be prevented?

The prevention of sinusitis is difficult. Episodes of it can be prevented if the number of upper respiratory infections can be reduced. For children, reducing colds can be accomplished by removing them from the daycare setting or, at least, finding a smaller daycare program. Strict hand washing at home and in daycare settings helps to prevent the spread of upper respiratory infections. Decreasing exposures to known allergens and irritants should help patients with either recurrent acute or chronic sinusitis.

If hypersensitivity to allergens is found, topical intranasal steroid medications are helpful. A two- to four-week treatment trial of topical nasal steroids may be worthwhile even if allergen sensitivity is not found.

What research is being done?

The role of antibiotics in treating acute and chronic sinusitis continues to be investigated. The optimal length of antibiotic therapy is being studied in patients with acute sinusitis. The need for antibiotics is being questioned in patients with chronic sinusitis.

Other research is examining the role of therapies, such as saline sprays, hot steam mists, and topical nasal steroids, in patients with either acute or chronic sinusitis. The mechanism by which our bodies suppress or promote the inflammatory process associated with sinusitis also is being studied. Medications that support the ability of the body (or the sinuses) to regulate this inflammatory process are a possibility in the future.

References

Spector SL, Bernstein IL, Li JT, et al., eds. Parameters for the management of sinusitis. J Allergy Clin Immunol 1998;102:S117-44.

Wald ER. Diagnosis and management of sinusitis in children. Sem Pediatr Infect Dis 1998;9:4-11.

Wald ER. Chronic sinusitis in children. J Pediatr 1995;127:339-47.

About the Author

Dr. Nash is a pediatric allergist/immunologist practicing at Children's Hospital of Pittsburgh. He divides his time evenly between clinical care and research. He has both research and clinical care interests in the management of children with either sinusitis or asthma.

Dr. Wald received her Bachelor of Science degree at Brooklyn College and her Medical Degree at Downstate Medical Center. She is currently on staff at Children's Hospital of Pittsburgh and specializes in Allergy, Immunology and Infectious Diseases. One of her recent honors includes being named "Pennsylvania Pediatrician of the Year" by the American Academy of Pediatrics.

Copyright 2012 David Nash, M.D., All Rights Reserved

Smoking 

Read more about this here.

Speech Development in Young Children 

What is articulation?

Learning to talk and produce all the sounds in a language is a developmental process known as articulation. Sounds, syllables, and words are formed when the vocal chords, tongue, jaw, teeth, lips, and palate change the stream of air that is produced by the respiratory system. Articulation is complicated and often difficult to master.

What is an articulation disorder?

Children have an articulation disorder when they produce the sounds, syllables, or words atypically when compared with other children of the same sex and age. Severity may range from errors occurring on only one sound, such as an "s" or an "r" sound, to multiple errors that affect the intelligibility or clarity of speech and, thus, a child's communication skills.

Lots of little kids talk funny - what's typical and what's not?

True, kids not only "say the darndest things," but they say them in such a cute way. What is not typical is when the child's speech pattern persists past a certain age or when it impacts intelligibility.

Most atypical sound production can be classified into one of four categories: omissions, substitutions, additions, or distortions. For example, an omission occurs when a child says "oos" for "juice," and an addition occurs when a child adds a sound to a word, such a "joosk" for "juice." Distortions occur when the child produces the sound in an unusual manner that sounds similar to the intended sound.

Atypical sound production may in fact be "typical" at a certain age for boys or girls. As children develop, they generally outgrow these speech patterns. Children should be producing all the sounds in the English language by age 8. However, it is not unusual for a child under age 3 to receive articulation therapy if his/her speech contains multiple errors that affect intelligibility and successful communication.

What causes an articulation disorder?

Some articulation disorders are caused by a physical disability, such as a cleft palate, hearing loss, or head injury. Some dental problems affect articulation.

Still, many children receive therapy even though they do not exhibit any physical disabilities. These children may simply have learned to produce speech sounds atypically, and the sound errors persisted past the age when their peers had learned the correct productions.

My child is in elementary school and has trouble with a few sounds. Will he/she grow out of it?

The most common errors that persist past 8 years of age include difficulty producing the "r," "l," and "s" sounds. However, speech therapy is often recommended for children younger than age 8 when any of these errors occur because the longer the incorrect speech pattern persists, the more difficult it is to correct. It is possible that a child will grow out of it, but it is always wise to discuss all articulation issues with a doctor.

Who do I talk to about this first?

Parents should contact their child's doctor to discuss the possibility of consulting with a certified speech language pathologist if they are concerned about their child's speech or language production. Early intervention is considered the "best practice," and it is especially important when the child is unintelligible to the unfamiliar listener or when the child appears frustrated by his/her difficulty in being understood.

What is a speech therapist?

A speech language pathologist (commonly know as a speech therapist) holds a master's degree or doctorate, and is trained to evaluate and treat articulation disorders, as well as speech, language, and learning issues. Some speech language therapists have additional training in feeding, augmentative communication, and other highly specialized areas. Some therapists work strictly with adults, while other therapists work with children. It is important to ask the therapist if he/she has experience with articulation disorders in children. Parents should always be sure that the therapist is certified by the American Speech-Language Hearing Association and is licensed by their state.

The speech pathologist will assess the child's ability to say all the sounds in the English language individually, in single words, and/or in conversational speech. The therapist will determine which sound productions are typical for the child's age and which sound productions are atypical.

Therapy sounds like drudgery - my child will hate it!

Surprisingly to many parents, speech therapy does not have to be a dreaded task. In fact, it does not feel like "therapy" to many children. Speech pathologists incorporate games, movement, computers, crafts, and even cooking into the therapy sessions to facilitate correct speech production.

About The Author: Melanie Potock, MA, CCC-SLP

Melanie Potock is a certified speech language pathologist in private practice in Colorado. In addition to helping young children develop speech and language skills, she is a national speaker on the topic of "feeding" and picky eaters. She is the author of Happy Mealtimes with Happy Kids and the executive producer of the acclaimed children's album, Dancing in the Kitchen: Songs that Celebrate the Joy of Food! Mel is a regular contributor to national magazines and health related websites, including Pediatric Web and The Tender Foodie. She can be contacted at www.mymunchbug.com.

Copyright 2012 Melanie Potock, M.A., CCC-SLP, All Rights Reserved

Stevens-Johnson Syndrome 

What is SJS?

SJS, or Stevens-Johnson Syndrome, is an abrupt, severe injury to the mouth, eyes, and skin, where large sheets of mucosa or skin are destroyed and then shed. The occurrence of SJS is uncommon.

What causes SJS?

For most individuals, SJS is the result of a drug reaction. Sulfa drugs, seizure drugs, and analgesics (pain relievers) are the most common medicines to cause SJS; however, a large number of drugs can cause it. In a few individuals, infections, such as pneumonias caused by Mycoplasma, may cause SJS.

Who gets SJS?

SJS mostly occurs in toddlers and in young children.

How does a drug reaction cause disease?

The skin of the person who has a reaction to a drug may not correctly eliminate it. The reaction most likely occurs because of a genetic mutation in one of the enzymes that is responsible for eliminating drugs from the body. The drug builds up in the lining of the skin, mouth, and eyes, and severely damages the tissue. It is similar to a burn, but the damage occurs from the inside out. Internal organs also may be involved.

What are the common findings?

The initial signs of SJS are bloody crusts on the lips, a sore mouth that has a foul smell, and purple-red tender spots on the skin. Drinking and eating are difficult, and light is painful to the eyes. Large areas of tissue death occur, and large blisters may form, followed by a loss of large sheets of the skin or the mouth. The linings of the eyes have pus drainage, and they may heal with scarring so that the eyelids do not move normally. The cornea also may erode. Fingernails may be shed, and a loss of skin color may occur. Severe stomach problems may occur in some individuals, and diarrhea and kidney or liver damage may result. The internal lining of the airway may slough off, blocking breathing.

How is SJS diagnosed?

Most physicians diagnose SJS from the involvement of the mouth and the eyes, plus the appearance of skin lesions. Sometimes, a skin biopsy may be needed to distinguish SJS from other conditions, such as pemphigus, which is another blistering condition.

How is SJS treated?

There is not a specific treatment for SJS at the time of an attack. Treatment for SJS consists of replacing fluids, calories, and salts, and then treating the skin as if it was a burn. If a drug is suspected of causing SJS, it should be stopped.

SJS is a severe, life-threatening condition, and the best treatment occurs when the child is admitted to a hospital with a pediatric burn unit or a pediatric intensive care unit.

What are the complications?

The complications of SJS are similar to a severe burn. The following complications may occur: infection through the open skin, dehydration, salt disturbances, fever, scarring, fingernail loss, loss of skin color, breathing problems, pneumonia, kidney failure, liver problems, and death.

How can SJS be prevented?

SJS may be prevented by avoiding those drugs that have caused reactions in the past, and by not taking those drugs that are more likely to cause SJS. However, for most individuals, SJS appears unexpectedly and cannot be prevented.

What research is being done?

Researchers are currently examining treatments that block the cell death pathways. Potential genetic mutations also are being examined, which may help in developing tests that can predict who will get a severe reaction to a particular class of drugs.

About the Author

Dr. Weston is a Professor of Pediatrics and Dermatology at the University of Colorado Health Sciences Center and Chair of the Department of Dermatology. His scientific and clinical interests include Cutaneous immunology, Cutaneous virology, and Pediatric Dermatology.

Dr. Weston is the primary author of the Color Textbook of Pediatric Dermatology (Weston, Lane, Morelli; Mosby, Inc.) which is used by clinicians worldwide and is published in 4 languages.

He created the Genetic Skin Disorders clinic at the University of Colorado in 1998.

Copyright 2012 William L. Weston, M.D., All Rights Reserved

Strep Throat-Acute 

What is Strep Throat?

Streptococcal pharyngitis ("strep throat") is one of the most common bacterial infections in children. Although there are over 20 types of streptococci, the group A strain is the most frequently encountered as a cause of sore throat. The changes of acute strep throat are confined to the tonsils, back of the throat, and the draining lymph nodes in the front of the neck. Changes in the infected tissues reflect an inflammation which produces redness, swelling, and pus on the surface of the tonsils and back of the throat.

Blisters and ulcers are uncommon. In infants, the nose is more typically involved in the infection as opposed to the throat. Infection may be transferred from the back of the throat or the nose to the skin, causing facial impetigo. Localized extension of strep may occur to adjacent cites to include the sinuses, the middle ear (acute ear infection), the epiglottis, and regional lymph nodes. Further extension may lead to meningitis in rare cases.

What causes sore throats?

The largest proportion of children (15-40%) and adolescents (30-60%) with sore throat have a viral infection. About 8-30% of children and 5-9% of teenagers with fever and throat inflammation have a strep infection. Other bacteria infrequently cause throat infection. Particularly among teenagers, the differential diagnosis includes other species of streptococci (group C and group G) and even the possibility of gonococci (gonorrhea germ) causing a sore throat. Other bacteria include Mycoplasma pneumoniae, Chlamydia pneumoniae and Arcanobacterium haemolyticum as causes of symptomatic sore throat.

In developing countries, diphtheria remains a cause of sore throat. Very often sore throats are of unknown course and this may represent viruses which at present cannot be identified, post nasal drip, allergy, etc.

Who gets strep throat?

Strep throat infections are spread person-to-person. Humans are the natural reservoir of this bacteria. The nose and back of the throat are the main sources of carriage of this bacteria. The skin and feces are potential sites. Aerosolized upper respiratory mucus serves as the primary source of the strep germ spreading to others. Direct contact with infected nose and throat tissues (by kissing) is of less importance as is contact with contaminated objects, such as toothbrushes.

Spread of strep throat requires the presence of a susceptible child and is facilitated by close contact.

Acquisition of infection is rare in infancy due to mothers' immunity conferred transplacentally. Infection is uncommon below the age of two years. When infection occurs during the toddler years, it most often involves the nose. Children in day care and grade school more frequently contract and spread strep throat. Teenagers and adults usually have had contacts with the bacteria over time to provide immunity, thereby rendering strep uncommon in these age groups.

How does strep cause disease?

Strep produces a self-limited localized inflammation of the throat, generally lasting 3-5 days. Antibiotic treatment, if prompt and appropriate, reduces the duration of symptoms, shortens the period of contagion and reduces the risk of localized spread and complications. A major objective of administering antibiotics is to prevent rheumatic fever and possibly reduce the occurrence of post-strep kidney damage.

Common findings

Strep throat cannot be accurately diagnosed on the basis of history and examination in most patients. Classically, strep throat patients have fever, redness and swelling of the throat with pus on the tonsils and back of the throat. Swollen and tender lymph nodes in the front of the neck typically occur. It is quite unusual for a patient with strep throat to also have a runny nose and a cough. Strep throat occurs most commonly in mid-winter to early spring. If all of the typical history and symptoms of strep throat are present, then the likelihood of strep approaches 60-70% in children and 20-30% in teenagers.

How do you diagnose strep throat?

In 1954, the first reports of using a throat culture in an office setting initiated an era of office based laboratory diagnosis for pediatricians and family doctors. The use of a throat culture to confirm the presence of strep throat has become a common practice and has grown steadily such that by the early 1980's the Centers for Disease Control estimated that between 28-36 million throat cultures were performed annually in the United States. The value of this simple laboratory test in avoiding unnecessary antibiotics and in identifying children and teenagers requiring treatment is considerable.

Rapid strep detection tests came into wide use in the 1990's. These tests can be performed quickly at a cost that is comparable to a 10 days supply of penicillin. These tests, if properly performed, have the same reliability as a throat culture.

Treatment

Treatment should relieve the symptoms of acute strep throat, eliminate transmission and prevent complications. Ideally, the chosen antibiotic should be easy to administer free of side effects and affordable. None of the antibiotics used in the treatment of strep throat achieves all of these goals in all infected patients-including penicillin which is the gold standard of therapy. In considering treatment of strep throat, the physician is faced with a large number of generic and brand name antibiotics with wide ranges of effectiveness, side effects and costs.

Strep germs are highly susceptible to penicillin, amoxicillin, Augmentin, and the cephalosporins (Keflex, Duracef, Ceclor, Lorabid, Cefzil, Ceftin, Vantin, Omnicef and Cedax). 90-95% of strep strains are susceptible to erythromycin, Biaxin, Zithromax and Cleocin. Ten days of oral penicillin and erythromycin are necessary to achieve a maximum cure of strep throat. However, completion of 10 days therapy is often problematic as parents and teenagers forget to administer or take the antibiotic as symptoms improve over the first few day of treatment.

A five day course of therapy with several cephalosporins has been shown to produce a similar or superior cure compared with 10 days of oral penicillin. The cephalosporins tested for five days include Duracef, Ceftin, Vantin and Omnicef. Zithromax may be administered for five days because the antibiotic persists in the throat tissues for five days after discontinuation of the drug.

What are the complications of strep throat?

The main concern with strep throat relates to the development of acute rheumatic fever. This is an infection of the heart valves which leads to permanent heart valve damage with the possibility of progression to heart failure. Strep throat also causes kidney damage if not prevented by use of antibiotics. The kidney damage of the filtering system can lead to both acute kidney failure and chronic kidney problems. Of course, strep can also spread to tissues in the upper airways (for example, deep throat infections and infections of the draining lymph nodes at the front of the neck. Extension from the throat to the brain rarely occurs thereby producing meningitis or brain abscess.

How do you prevent strep complications?

Antibiotics, if promptly initiated, will prevent virtually all of the complications of strep. Rheumatic fever can be prevented if antibiotic therapy is begun within 9 days of the onset of first symptoms.

What research is being done?

New antibiotics are usually tested for their effectiveness in the treatment of strep throat and antibiotics which can be administered for shorter durations of time do represent the possibility of a treatment advance because of the tendency for everyone to prefer shorter treatment durations for a complete cure. Vaccines for the prevention of strep throat have now reached clinical studies in humans. The difficulty in development of an effective vaccine for strep throat has been the diversity of strep strains.

About the Author

Dr. Michael E. Pichichero is currently a Professor of Microbiology and Immunology, Pediatrics and Medicine at the University of Rochester in Rochester, NY.

A graduate of the University of Rochester School of Medicine, Dr. Pichichero completed his postgraduate pediatric residency at the University of Colorado in Denver, followed by a Chief Residency and two fellowships resulting in board certification in Pediatrics, in Adult and Pediatric Allergy and Immunology and in Pediatric Infectious Disease.

Dr. Pichichero is a partner in the Elmwood Pediatric Group where he continues to practice in primary care and as a subspecialist consultant.

A recipient of numerous awards and a member of most professional societies in his fields of interest, Mike has over 300 publications in infectious diseases, immunology, and allergy.

His major practice and research interests are in vaccine development, streptococcal infections, and otitis media: in each of these areas he is a prominent international authority.

Reviewed 11/4/10

Copyright 2012 Michael E. Pichichero, M.D., All Rights Reserved

Strep Throat-Recurrent 

Are the sore throats actually caused by strep?

Many physicians diagnose strep throat infections based on a patient's history and an examination. However, without the aid of a throat culture or a rapid strep detection test, recurrent strep throat infections are difficult to accurately diagnosis. The complaint of a sore throat is frequent in the primary care practice setting. Yet, at the peak of the strep throat infection season (late fall through early spring), strep is the cause of a sore throat in less than 30% of children and 10% of teenagers.

Therefore, strictly on a percentage basis, physicians, who diagnose strep in the majority of patients with a sore throat, over-diagnose 90% of teenagers and 70% of children. Even in a patient with typical symptoms-a fever, a red throat with yellow pus on the tonsils, swollen and tender neck lymph glands, and the absence of a runny nose and a cough-misdiagnosis is common. In one study, an overestimate of the probability of a positive strep culture was observed for 81% of the patients.

To accurately diagnose strep throat infections, physicians use throat cultures (the gold standard) or rapid strep detection tests. Rapid strep detection tests improve the accuracy of diagnosing strep throat infections. The accuracy of rapid strep detection tests varies between products, but the main variable is in the carefulness of performing the test. The critical factor is attention to detail and strictly following the manufacturers' guidelines for the test.

Table 1.

Causes of Pharyngitis

   
  Peak Incidence (%)
  Cause Children Adults
 
  Bacterial 30 to 40 5 to 10
  GAS 28 to 40 5 to 9
  Group C, G, or F Streptococcus 0 to 3 0 to 18
  gonorrhoeae 0 to 0.01 0 to 0.01
  haemolyticum 0 to 0.05 0 to 10
  pneumoniae 0 to 3 0 to 10
  pneumoniae 0 to 3 0 to 9
  Viral 15 to 40 30 to 60
  Idiopathic 20 to 55 30 to 65
 
Data compiled from Reference 1.

Did the patient finish the prescribed antibiotic?

Patients often do not finish the complete treatment of antibiotics. The symptoms of strep throat end quickly with antibiotics; patients feel completely better within two to three days after beginning treatment. Because of this improved well being, parent motivation to continue the medicine diminishes.

Studies from hospital-based clinics and private practices have confirmed that as many as 50% of patients have stopped taking penicillin for strep throat by the third day, 70% by the sixth day, and over 80% by the ninth day. In the same populations, over 80% of the families claimed that all of the prescribed medicine had been taken.

Is the problem antibiotic resistance or tolerance?

The following antibiotics-penicillin, amoxicillin, and cephalosporins (i.e., Keflex, Duricef, Ceclor, Lorabid, Ceftin, Cefzil, Vantin, Suprax, Cedax, and Omnicef)-are effective in treating strep throat infections. Infrequently, strep throat infections are resistant to Erythromycin, clarithromycin (Biaxin), and azithromycin (Zithromax).

Is the patient experiencing repeated exposure to strep?

Some patients are effectively treated for a strep infection with antibiotics, only to return to an environment where the infection continues to circulate. The patient then becomes re-infected and returns to the physician with a recurrent strep throat infection. Certain circumstances-crowded working conditions, schools, day care settings, and larger families-more frequently transmit strep. One small study and one case report have suggested that, in rare instances, dogs also may be carriers of strep; however, other investigations have not corroborated this possibility.

Is the patient not responding to antibiotics?

Even when all strep infections are laboratory confirmed with throat cultures or rapid strep detection tests, and the antibiotic is finished, failure to respond to treatment still occurs. The highest treatment failure rates observed are with penicillin; about two-thirds of presumed strep throat infections are treated with either penicillin or amoxicillin. Penicillin and amoxicillin treatment failures vary geographically, and the incidence of penicillin treatment failures for strep throat infections may be rising. Patients most likely to experience a penicillin or amoxicillin treatment failure are those who have recently received treatment with these drugs and are then retreated with the same antibiotic.

Has prior antibiotic therapy eliminated protective throat bacteria?

Prominent, normal bacteria of the throat include another type of streptococci (alpha hemolytic). These bacteria make natural antibiotic substances (to provide an advantage for themselves) in the throat. Penicillin or amoxicillin therapy may change the natural environment for throat bacteria by killing these alpha hemolytic streptococci; their elimination provides an opportunity for disease-causing strep to gain access to the throat cells. This is another reason for patients to avoid unnecessary antibiotic use.

Has early, prompt antibiotic treatment suppressed natural immunity?

With the availability of rapid strep detection tests and the publication of several convincing studies that describe faster clinical improvement from prompt treatment, many physicians have been prescribing antibiotics sooner after diagnosing strep throat infections.

Immediate penicillin treatment has been shown to be a cause of recurrent strep infections. Early antibiotic treatment suppresses the natural immune response to strep. Delaying antibiotic therapy for two days after the onset of a sore throat allows an immune response to develop, which may reduce the chance of a relapse or recurrence of strep throat infections.

Two similar studies compared immediate penicillin treatment with treatment delayed for 48 to 56 hours in 343 children with documented strep throats. Early antibiotic therapy produced a three-time increase in the frequency of recurrent infections as compared to those for whom treatment was delayed.

Table 2.

Recurrence Rates of Immediate versus Delayed Treatment of GAS Tonsillopharyngitis with Penicillin

 

Treatment Group (n)(%)*

 

Recurrent Acute GAS Pharyngitis

Immediate Treatment(n=70)

Delayed Treatment
(48 to 56 hr)
(n=173)

 
 
Early recurrence 32 (19) 14 (8) 0.006
Late recurrence 22 (13) 5 (3) 0.001
Total recurrence 54 (32) 19 (11) <.001
 
*Treatment groups compared by x2 of Fisher's exact test, as appropriate; data compiled from References 12 and 13.

A delay in treatment does not increase the risk of rheumatic fever since a delay of up to nine days from the onset of symptoms can be made. Nevertheless, for patients who appear severely ill or in times when highly infectious strains of strep are circulating, intentionally delayed treatment should not be considered.

Is the patient a strep carrier?

A positive throat culture or a rapid strep test alone cannot distinguish between the patient with strep throat and the patient with an acute viral sore throat who is a chronic strep carrier. The strep carrier has a positive throat culture, but does not show symptoms of an acute strep infection or show a rise in strep antibody levels. In clinical practice, identifying a strep carrier is problematic.

Following treatment, the patient needs to be seen again to determine whether strep is present when the patient does not have a sore throat. In addition, antibody levels need to be drawn when the patient has a sore throat and then drawn again four to six weeks later to measure strep antibodies. If antibiotic therapy has been given to treat prior symptoms, it may suppress the antibody rise, thereby negating the usefulness of this test.

Table 3.

Short-Course Treatment of Streptococcal Phayngitis

 

Bacteriologic Cure

 

Duration of
Rx(days)

Cephalosporin or Azithromycin

Penicillin (10 days)

 
Cefuroxime axetil 4 82/90 (96%) 77/80 (96%)
Cefadroxil 5 87/104 (84%) 93/105 (89%)
Cefpodoxime proxetil 5 59/61 (97%) 49/52 (94%)
Cefpodoxime proxetil 5 79/82 (96%) 64/68 (94%)
Cefuroxime axetil 4 83/97 (88%) 90/103 (87%)
Cefpodoxime proxetil 5 112/121 (93%) 101/130 (78%)
Azithromycin 5 167/176 (95%) 130/187 (77%)
Azithromycin 5 139/147 (95%) 88/127 (69%)
 
Data compiled from Reference 15.

What antibiotic should be selected?

Many antibiotics---such as penicillin-can be used to treat recurrent strep throat infections.

Clindamycin or rifampin, in combination with a second antibiotic, such as penicillin, amoxicillin, or a cephalosporin, has been used to treat acute, recurrent, and carrier strep throat infections. Routine use of clindamycin is not advocated because diarrhea is a rare, but significant, side effect. Rifampin must be used with a second antibiotic because strep will rapidly become resistant to it when it is given as a single therapy. Patients should be advised that rifampin produces orange discoloration of the urine and tears (permanently staining contact lenses).

Oral cephalosporins (Keflex, Duracef, Ceclor, Lorabid, Ceftin, Cefzil, Suprax, Vantin, Omnicef, and Cedax) have gained widespread use in treating recurrent strep throat infections. When cephalosporin antibiotics are used to treat strep throat infections, a failure occurs less than 5% of the time; however, they are more expensive than penicillin or amoxicillin.

Amoxicillin/clavulanic acid (Augmentin) has been evaluated to treat strep throat with superior or equivalent results in comparison to penicillin.

Table 4.

Penicillin versus Cephalosporins in the Treatment of Streptococcal Pharyngitis

Treatment Regimen

n

Bacteriologic Failure Rate (%)

n

Clincial Failure Rate

 
Cephalosporins 1290 8.01 926 5.02
Penicillins 1169 16.01 865 11.02
 
1p = 0.0001
2p < 0.001
Data compiled from Reference 8.

Should a tonsillectomy be performed?

If a patient has six to seven recurrent strep throat infections over a one-to two-year time span, then a tonsillectomy should be considered after consulting with your primary care physician. Families should be advised that the procedure reduces the frequency of sore throats, and, specifically, strep throats, for two to three years after surgery.

About the Author

Dr. Michael E. Pichichero is currently a Professor of Microbiology and Immunology, Pediatrics and Medicine at the University of Rochester in Rochester, NY.

A graduate of the University of Rochester School of Medicine, Dr. Pichichero completed his postgraduate pediatric residency at the University of Colorado in Denver, followed by a Chief Residency and two fellowships resulting in board certification in Pediatrics, in Adult and Pediatric Allergy and Immunology and in Pediatric Infectious Disease.

Dr. Pichichero is a partner in the Elmwood Pediatric Group where he continues to practice in primary care and as a subspecialist consultant.

A recipient of numerous awards and a member of most professional societies in his fields of interest, Mike has over 300 publications in infectious diseases, immunology, and allergy.

His major practice and research interests are in vaccine development, streptococcal infections, and otitis media: in each of these areas he is a prominent international authority.

Copyright 2012 Michael E. Pichichero, M.D., All Rights Reserved

Stuttering and the Young Child 

What is the difference between typical disfluencies and stuttering?

Disfluencies are interruptions in the smooth flow of single words, phrases, or conversational speech. True stuttering impacts not only the flow of words, but also has specific behaviors associated with the disruption in flow. Not all of the behaviors are present for every child. Some of the behaviors to watch for are:

Consistent disturbance in speech production

  • Frequently repeating sounds three or more times
  • Prolongation of a word or part of a word in many speaking situations

Awareness of his/her own difficulty speaking as evidenced by the following reactions to the disruptions in flow

  • Tension, tremors, or struggling in the muscles of the eyes, lips, cheeks, chin, throat, or chest while speaking
  • Consistent presence of "starters," such as "um" or "so"
  • Rise in pitch associated with repetition of sounds
  • "Blocking" on words demonstrated by no voice and/or airflow while attempting to speak
  • Anxiety or fear in a child's face as he/she anticipates his/her need to speak a difficult word
  • Avoiding or "talking around" a specific word

How do I know it is not "true" stuttering?

If your child exhibits one or more of the behaviors noted above, he/she might be developing a true stuttering problem. If parents have any concerns about their child's speech fluency, the first person to consult is their child's doctor. The doctor may refer the child to be evaluated by a certified speech language pathologist who specializes in fluency disorders.

What causes stuttering?

Researchers vary on their opinion of what causes stuttering. However, most researchers agree that the following factors are associated with increases in normal disfluencies:

  • Difficulty with fine motor coordination and/or timing of the respiratory and oral motor muscles
  • Interpersonal stress
  • Disturbing, stressful events that are unanticipated by the family
  • Certain stages of complex language development

My child's playmate stutters. Will my child learn to stutter too?

Although this is a common myth, stuttering is not contagious. However, a child can be a positive influence on his/her friend's speech if the child is aware of some of the ways that he/she can help. (Please refer to "What can I do at home to help my child.")

My grandfather stuttered. Is it inherited?

Researchers do not know if stuttering is an inherited trait. It is true that stuttering seems to run in some families, but a specific gene for stuttering has not been identified. Family studies show that many stutterers have a predisposition for stuttering, but it is unclear what physical markers exist that may prove inheritance. In twin studies, stuttering occurs more often in identical twin pairs than in fraternal twin pairs. Again, it appears from the twin studies that stuttering is inherited, but the inherited physical marker is unclear.

Could an upsetting event in our lives have caused this?

Emotional stress may aggravate stuttering, but it is not considered to be a cause. Children who may be vulnerable to stuttering will often become more disfluent during stressful times.

Is this my fault as a parent?

Current research indicates that parents do not cause stuttering. However, you can play an important role in facilitating normal fluency in your child's speech.

What can I do at home to help my child?

Parents should keep the following advice in mind when talking with their child:

  • Be aware of your own rate of speech during conversations. Speak in a slow, relaxed, yet natural manner. By doing so, you will be subtly modeling a slower conversational speech rate for your child. A slower rate also is less taxing to the listener and, thus, less stressful for your child.
  • Respond to what your child is saying, not to the stuttering. Focus on the content, not the way it is presented.
  • Be careful not to interrupt your child or to finish the sentences for him/her. Wait patiently until your child is done talking, and support him/her by gentle responses that say "I'm listening," such as head nods, eye contact, smiles, and verbal markers (e.g., "uh-huh").
  • Count to three before replying. Avoid speaking immediately when your child pauses or stops talking.
  • It is easy in a hectic day to pick up the pace, hurry from one activity to another, and rush about. Try to make a conscious effort to prepare your child for transitions between activities and tell him/her the plan for what will happen next.
  • Take a look at common stressful moments at home. For example, is it always hectic in the morning before daycare? Or, does tension increase in the evening when you are preparing dinner? How do these moments affect your child's fluency? What can you do as a family to ease the tension?
  • Examine your daily routine. Is it highly structured, mildly predictable, or total chaos? A predictable daily routine, which also allows for flexibility, is ideal.
  • Ask fewer questions, and only one at a time. Wait and listen intently while your child answers. Respond with interest. Again, focus on the content and not on the stuttering.

Encourage family members, baby-sitters, and teachers to speak in a relaxed rate, to listen carefully to your child, to give appropriate eye contact, to respond positively to your child's comments, and to allow your child to finish his/her thoughts.

Maybe my child will just grow out of it.

Many children who show signs of mild disfluencies do "grow out of it." However, because typical disfluencies may mimic early signs of stuttering, it is highly recommended that parents consult with a doctor. It is worth the peace of mind to know that 1.) your child's disfluencies are typical for his/her age and development, or 2.) your child's stuttering can be helped significantly through early intervention with a certified speech language pathologist.

Links to other information

For additional information on childhood stuttering, please contact the Stuttering Foundation of America, P.O. Box 11749, Memphis TN 38111-0749.

About The Author: Melanie Potock, MA, CCC-SLP

Melanie Potock is a certified speech language pathologist in private practice in Colorado. In addition to helping young children develop speech and language skills, she is a national speaker on the topic of "feeding" and picky eaters. She is the author of Happy Mealtimes with Happy Kids and the executive producer of the acclaimed children's album, Dancing in the Kitchen: Songs that Celebrate the Joy of Food! Mel is a regular contributor to national magazines and health related websites, including Pediatric Web and The Tender Foodie. She can be contacted at www.mymunchbug.com.

Copyright 2012 Melanie Potock, M.A., CCC-SLP, All Rights Reserved

Swine Flu 

What is novel H1N1 (swine flu)?

Novel H1N1 (referred to as swine flu early on) is a new influenza virus causing illness in people. This new virus was first detected in people in the United States in April 2009. This virus is spreading from person-to-person worldwide, probably in much the same way that regular seasonal influenza viruses spread. On June 11, 2009, the World Health Organization (WHO) signaled that a pandemic of novel H1N1 flu was underway.

Why is novel H1N1 virus sometimes called swine flu?

This virus was originally referred to as swine flu because laboratory testing showed that many of the genes in this new virus were very similar to influenza viruses that normally occur in pigs (swine) in North America. But further study has shown that this new virus is very different from what normally circulates in North American pigs. It has two genes from flu viruses that normally circulate in pigs in Europe and Asia and bird (avian) genes and human genes. Scientists call this a "quadruple reassortant" virus.

How does novel H1N1 virus spread?

Spread of novel H1N1 virus is thought to occur in the same way that seasonal flu spreads. Flu viruses are spread mainly from person to person through coughing or sneezing by people with influenza. Sometimes people may become infected by touching something such as a surface or object with flu viruses on it and then touching their mouth or nose.

What are the signs and symptoms of this virus in people?

The symptoms of novel H1N1 flu virus in people include fever, cough, sore throat, runny or stuffy nose, body aches, headache, chills and fatigue. A significant number of people who have been infected with this virus also have reported diarrhea and vomiting. As with seasonal flu, severe illnesses and death have occurred as a result of illness associated with this virus.

How severe is illness associated with novel H1N1 flu virus?

Illness with the new H1N1 virus has ranged from mild to severe. While most people who have been sick have recovered without needing medical treatment, hospitalizations and deaths from infection with this virus have occurred.

In seasonal flu, certain people are at high risk of serious complications. This includes people 65 years and older, children younger than five years old, pregnant women, and people of any age with certain chronic medical conditions. About 70 percent of people who have been hospitalized with this novel H1N1 virus have had one or more medical conditions previously recognized as placing people at high risk of serious seasonal flu-related complications. This includes pregnancy, diabetes, heart disease, asthma and kidney disease.

One thing that appears to be different from seasonal influenza is that adults older than 64 years do not yet appear to be at increased risk of novel H1N1-related complications thus far. CDC laboratory studies have shown that no children and very few adults younger than 60 years old have existing antibody to novel H1N1 flu virus; however, about one-third of adults older than 60 may have antibodies against this virus. It is unknown how much, if any, protection may be afforded against novel H1N1 flu by any existing antibody.

How does novel H1N1 flu compare to seasonal flu in terms of its severity and infection rates?

With seasonal flu, we know that seasons vary in terms of timing, duration and severity. Seasonal influenza can cause mild to severe illness, and at times can lead to death. Each year, in the United States, on average 36,000 people die from flu-related complications and more than 200,000 people are hospitalized from flu-related causes. Of those hospitalized, 20,000 are children younger than 5 years old. Over 90% of deaths and about 60 percent of hospitalization occur in people older than 65.

When the novel H1N1 outbreak was first detected in mid-April 2009, CDC began working with states to collect, compile and analyze information regarding the novel H1N1 flu outbreak, including the numbers of confirmed and probable cases and the ages of these people.

The information analyzed by CDC supports the conclusion that novel H1N1 flu has caused greater disease burden in people younger than 25 years of age than older people. At this time, there are few cases and few deaths reported in people older than 64 years old, which is unusual when compared with seasonal flu. However, pregnancy and other previously recognized high risk medical conditions from seasonal influenza appear to be associated with increased risk of complications from this novel H1N1. These underlying conditions include asthma, diabetes, suppressed immune systems, heart disease, kidney disease, neurocognitive and neuromuscular disorders and pregnancy.

How long can an infected person spread this virus to others?

People infected with seasonal and novel H1N1 flu shed virus and may be able to infect others from 1 day before getting sick to 5 to 7 days after. This can be longer in some people, especially children and people with weakened immune systems and in people infected with the new H1N1 virus.

Links to other information

Information regarding influenza is available through the Centers for Disease Control and Prevention (CDC) Web site at CDC Flu Information.

State and local health departments can be contacted for information regarding the availability of the influenza vaccine, access to vaccination programs, and information about state or local influenza activity.

Reviewed 9/5/2009
By Daniel Feiten MD
Greenwood Pediatrics

Swine Flu (H1N1) FAQ 

My child has a cough and fever is this the Swine Flu?

The symptoms of the Swine (H1N1) Flu have been very similar to those of seasonal flu and include cough, fever, runny nose, sore throat, headaches, chills and body aches. Thus far in the US and Canada, cases of the Swine Flu have been mild to moderate in severity. Like many other viral upper respiratory tract illnesses or colds, the Swine Flu tends to be self-limited and resolves on its own without the use of any medication. Fever may last up to 3 days; runny nose 1-2 weeks; cough2-3 weeks.

Does my child need medication?

Most children and adults who have the Swine Flu do not need specific treatment other than symptomatic care. The anti-viral medications used to treat seasonal flu and Swine Flu, at best, shorten the duration of the illness by one to one and a half days. They do not cure the illness. Furthermore, these medications have been linked to GI and behavioral side effects. At this time, antiviral medications such as Tamiflu are being reserved for hospitalized patients and those in high risk categories, including children under two years and those with chronic illness such as asthma, heart disease, diabetes and immune system disorders. As with the overuse of other antibiotics, the overuse of Tamiflu can select out resistant organisms and render it ineffective for those who most need it.

Does my child need a test to see if it is the Swine Flu?

Even the most sensitive rapid flu tests miss positive cases about 30% of the time (almost one in three patients with Swine Flu will have a negative test). Given that Swine Flu tends to be self resolving and that most healthy children do not need antiviral medication, a positive flu test does not change the course of action for most children and adults

Does my child need to be seen?

Most seasonal flu and Swine Flu is self-resolving, and healthy children with mild to moderate symptoms are best treated with symptomatic care. However, some children may need to be seen by a medical provider, including those in high risk groups, as well as those with more severe symptoms or worrisome appearance. In some cases, secondary bacterial infection may occur. Signs of a secondary bacterial infection which would indicate the need to be seen include: difficulty breathing, ear pain, a fever that resolves for a few days and returns, acutely worsening symptoms after three days of illness, or persistent symptoms without improvement after 10 days.

How long does my child need to stay home from school?

If your child has flu-like symptoms, she should stay home from school until she has no fever for 24 hours without the use of anti-fever medications such as Tylenol or Ibuprofen.

Copyright 2012 Marc Avner, M.D., All Rights Reserved

Swine Flu (H1N1) Vaccine 

Will the seasonal flu vaccine protect against the H1N1 flu?

The 2010-2011 flu vaccine will protect against an influenza A H3N2 virus, an influenza B virus and the 2009 H1N1 virus that caused so much illness last season.

While everyone 6 months of age and older should get a flu vaccine each flu season, it’s especially important that the following groups get vaccinated either because they are at high risk of having serious flu-related complications or because they live with or care for people at high risk for developing flu-related complications:

  • Pregnant women
  • Children younger than 5, but especially children younger than 2 years old
  • People 50 years of age and older
  • People of any age with certain chronic medical conditions
  • People who live in nursing homes and other long-term care facilities
  • People who live with or care for those at high risk for complications from flu, including:
    • Health care workers
    • Household contacts of persons at high risk for complications from the flu
    • Household contacts and out of home caregivers of children less than 6 months of age (these children are too young to be vaccinated)

What about the use of antivirals to treat H1N1 infection?

Antiviral drugs are prescription medicines (pills, liquid or an inhaled powder) that fight against the flu by keeping flu viruses from reproducing in your body. If you get sick, antiviral drugs can make your illness milder and make you feel better faster. They may also prevent serious flu complications. To date, the CDC has recommended that healthcare providers cautiously prescribe antivirals for those persons with severe illness or those at higher risk for flu complications. Hence, not all patients will be treated with an antiviral medication.

Links to other information

Information regarding influenza is available through the Centers for Disease Control and Prevention (CDC) Web site at CDC Flu Information.

State and local health departments can be contacted for information regarding the availability of the influenza vaccine, access to vaccination programs, and information about state or local influenza activity.

Reviewed 11/3/2010
By Daniel Feiten MD
Greenwood Pediatrics

Swollen Glands 

What are swollen glands?

The lumps that you feel in your neck or under your jaw when you have a cold or a sore throat are called lymph nodes. Lymph nodes are part of the body's immune system. They help to destroy infectious germs, such as viruses (e.g., the common cold virus) and bacteria (e.g., strep). The lymph nodes make antibodies that will help keep you from being infected with a particular germ in the future.

Lymph nodes are located in the areas beside the head and the neck region. They can be found in the armpits, the groin, above the elbow, and deep inside the chest and the abdomen (belly). Their function is the same regardless of their location.

What causes enlarged lymph nodes?

When lymph nodes are active in fighting infection, they may become swollen and painful. Usually, the pain is mild, and the lymph node does not get much bigger than 2 centimeters (slightly under 1 inch) in size.

While lymph nodes are the most common cause of a lump or a bump in the neck, there are other, much less common causes, e.g., cysts from abnormalities of fetal development or thyroid gland enlargement. Usually, us can tell the difference on a physical examination.

Who gets enlarged lymph nodes?

Frequently, children have enlarged lymph nodes. The immune system of a child is constantly being exposed to germs that it has never seen before, and the lymph nodes may swell in reacting to those germs. In contrast, the immune system of an adult has seen most of the common germs, and has developed immunity to them.

Therefore, the lymph glands do not need to work so hard, and they are much less likely to become swollen. In fact, a study published in 1975 showed that 100% of children who are under 12 years of age had lymph nodes that could be felt in the neck.

What are the common findings?

In children, once a lymph node becomes enlarged, it may stay enlarged for a long time. Sometimes, several lymph nodes can become enlarged at the same time. Usually, the lymph node will begin to decrease in size within two to three weeks, but a little bump (less than 1 centimeter, or 1/4 to 1/2 inches, in size) may be present for months.

However, lymph nodes should not continue to grow in size (especially grow greater than 1 inch in diameter). If they do, you should contact us. Your doctor may want to measure the lymph node and record the findings in your chart for accurate comparison on your next examination.

Typically, a fever accompanies enlarged nodes when it is part of an infectious process. You also may have a sore throat, enlarged tonsils, an earache, a dental problem, or skin irritation or infection. Often, the problem that caused the swollen gland will bring you to us and not the swollen lymph node.

How is an enlarged lymph node diagnosed?

Generally, enlarged lymph nodes are evaluated by a physical examination. Your doctor will note:

  • the size and the location of the enlarged lymph node;
  • if one or more lymph nodes are involved;
  • if the node is tender
  • if it is associated with redness of the overlying skin; and
  • how it feels, e.g., soft, firm, rubbery, or hard.

Your doctor will examine the areas that the lymph node drains. For example, a lymph node under the jaw should prompt a careful examination of the mouth and the throat. Your doctor also will look for abnormalities that often are seen with enlarged lymph nodes, such as a skin rash or a swollen liver and/or spleen.

Enlarged lymph nodes that grow progressively or are very large in size (generally more than 3 centimeters, or 1 1/4 inches) may require more extensive evaluations, to include a blood count; blood tests for infections, e.g., mono; a skin test for TB; or an x-ray. This is particularly true if you have been losing weight, have joint pain or swelling, have persistent fevers and/or night sweats, or have other abnormalities that are found on a physical examination.

How is an enlarged lymph node treated?

Sometimes, an enlarged lymph node needs no treatment at all, particularly if it is enlarged because it is fighting a viral infection. Occasionally, antibiotics will be prescribed if the lymph node is infected with a bacterial germ or is enlarged due to a bacterial infection (e.g., strep throat). If the lymph node tenderness is a problem, acetaminophen or ibuprofen can be taken to ease the discomfort.

Although steroids (prednisone) will cause the lymph nodes to decrease in size, regardless of the cause of the enlargement, it is strongly discouraged because it could mask a serious underlying cause of the enlarged nodes, delay the correct diagnosis, and, possibly, complicate the treatment.

Rarely, us may recommend surgery to remove the lymph node so that it can be examined under the microscope for the presence of cancer or unusual infections. Usually, a course of antibiotics is administered first, before surgery is recommended. However, surgery is most likely to happen if:

  • the lymph node is large (greater than 3 centimeters, or 1 1/4 inches);
  • there are other abnormal physical examination findings, e.g., an enlarged liver and/or spleen;
  • the blood count is abnormal; or
  • the chest x-ray shows enlarged nodes.

Most people worry that a persistently enlarged lymph node is something very serious, like cancer. In children, this is rare. Even if us recommends a lymph node biopsy, it is not very likely to show cancer. In fact, in one study of 239 children who underwent lymph node biopsy, only 13% of the removed lymph nodes showed cancer.

What are the complications?

The lymph node itself may become infected (called lymphadenitis), which can be very painful, and is associated with redness and swelling. Usually, it requires antibiotics for treatment. Infrequently, the lymph node may have a pus pocket inside of it (i.e., an abscess) that requires an operation to drain it.

An enlarged lymph node that is felt immediately above the collarbone is unusual and seldom is associated with infection. If it occurs, you should contact us, as it may be a sign of a more serious condition. For example, in teenagers, swollen glands felt right above the collarbone could be the first sign of Hodgkin's disease, a type of cancer that occurs in the lymph nodes.

How can enlarged lymph nodes be prevented?

Enlarged lymph nodes cannot be prevented. The lymph node helps the body to fight infection, and, in the process, the lymph gland may increase in size. This is normal. The lymph tissue decreases in size after puberty, and it becomes less noticeable. However, you should contact us if:

  • the lymph nodes are larger than 3 centimeters, or 1 1/4 inches;
  • there are signs or symptoms of an infection, such as a sore throat, a fever, or an earache;
  • the lymph nodes are felt above the collarbone, regardless of their size; or
  • you have persistently enlarged nodes, lasting three or more weeks.

About the Author

Dr. Albano is a board certified pediatric hematologist/oncologist.

She graduated summa cum laude from Loyola University, Stritch School of Medicine and did both her pediatric residency as well as hematology/oncology fellowship at The Children's Hospital National Medical Center in Washington, DC.

Besides a full time practice in clinical oncology, Dr. Albano is actively involved in research in infections that occur in immunocompromised patients and their treatment.

Tattoos 

What is a tattoo?

A "tattoo" refers to any permanent mark made by placing colored material ("pigment") under the skin surface. The pigment can be nearly any substance, including ink, dye, carbon, or metal. Most decorative tattoos are made by intentionally injecting pigment under the skin surface to create permanent artistic designs. Sometimes, tattoos are made when the pigment is accidentally pushed into the skin. For example, ear piercing, a gunpowder explosion, or a "road rash" could make an accidental tattoo.

Who gets a tattoo?

Decorative tattoos are by far the most common. Tattoos are an artistic expression of individual taste and style. In the last few years, tattooing has become a popular way to apply permanent "make-up," such as eyeliner. Not all tattoos are decorative. Sometimes, doctors use small tattoos to permanently mark the skin to help give medical treatments at exactly the same spot every time. Tattoos also are used to identify members of a group, such as prisoners, social groups, or gang members.

What are the medical risks of a decorative tattoo?

Because needles and injections are used in tattooing, improperly sterilized equipment can spread viruses. Getting a tattoo significantly increases a person's risk of contracting viral hepatitis. Although possible, there are no documented cases of HIV linked to tattoo needles. Since tattoos create a wound in the skin, there is a small risk of bacterial infection, scar formation, or a keloid.

Allergic reactions to the ink or pigment are possible, and the allergy may not stop unless the tattoo is removed. There are many reports of skin cancer occurring in a tattoo. Tattooing can spread warts and molluscum (a skin disease that is characterized by soft, round masses).

What are the non-medical risks of a decorative tattoo?

Many people get tattoos impulsively and without much thought. Later, some people regret getting them or regret the location or design. Several articles document that it is harder to leave a gang lifestyle once the members are tattooed. A recent study surveyed individuals responsible for hiring new employees and found that many of them would not hire a person with visible tattoos.

How is a tattoo removed?

In most decorative tattoos, the pigment is found in the upper part of the skin, called dermis. The earliest methods of tattoo treatment simply removed the top layers of skin where the pigment was located.

Salabrasion uses salt particles to rub away the upper skin and the pigment. Immediately after treatment, the skin looks and feels like a "road rash." Although this method is inexpensive, it always leaves a significant scar, and it can be quite painful. Dermabrasion is a similar technique that uses a high-speed rotating sanding bit.

Small tattoos can be cut out surgically and then stitched closed. This leaves a surgical scar. Some locations, like the face, heal very well. If the tattoo is located on an area of the skin with a lot of movement or tension (e.g., hips, knees, or shoulders), the surgical scar will usually widen, or there may be stretch marks around the incision. Sometimes, large tattoos are cut out in stages over several sessions. Again, there is often a significant surgical scar.

The dermaplane is a tool that shaves off the top layer of the skin. This tool is often used to harvest skin for skin grafting. Amateur tattoos are frequently placed irregularly and deeper, so this technique may not go deep enough to remove all the color. As with the other surgical techniques, this often leaves a scar.

Several different LASER systems are now available for tattoo removal. The carbon dioxide (CO2) LASER simply burns off the top of the skin, one layer at a time, until all the color is gone. There is always scarring, resembling other kinds of burn scars.

Newer LASER systems use special types of light energy to instantaneously heat and destroy the tattoo pigment without damaging the surrounding skin. Some systems even have a device attached that keeps the surface of the skin cool to avoid a heat injury or burn. Some LASER systems work best for black pigment, while other systems work better for red or green pigments. This method of treatment is much less likely to cause pain or scarring. However, most LASER systems require multiple treatment sessions, and it may cost several hundred dollars per session.

When considering tattoo removal, discuss all of the methods, risks, costs, and alternatives with us.

Links to other information

For medical articles about tattoos, log on to: http://www.ncbi.nlm.nih.gov/PubMed/medline.html">

As an alternative to permanent tattoos, consider Henna:

http://dir.yahoo.com/Business_and_Economy/Companies/Arts_and_Crafts/Visual_Arts/Body_Art/Tattoos/Henna_Tattoos/

 

Yahoo search results on henna tattoos

 

For the history of tattooing, go to: http://tattoos.com/jane/steve/toc.htm

 

History of Tattooing

 

About the Author

After finishing medical school and dermatology training at the University of Oklahoma, Dr. Gillum came to Colorado to further his knowledge in this specialty. He is board certified in Dermatology and Dermatopathology.

He works at a busy private practice with offices in Aurora and Parker, Colorado. He also teaches at the University of Colorado Department of Dermatology and volunteers his time working with gang members to have their tatoos removed.

Copyright 2012 Paul Gillum, M.D., All Rights Reserved

Tear Duct, Blocked 

What is a Blocked Tear Duct?

When an obstruction occurs in the duct system which carries tears away from the surface of the eye to the nose, it is called a blocked tear duct or nasolacrimal duct obstruction.

 

What Causes a Blocked Tear Duct?

Tears are produced in the lacrimal gland located above the lateral aspect of the eye. These tears are secreted and travel across the cornea, exiting via the superior and inferior puncta (holes) on the inner (medial) corner of the eye. Usually, a small tube called the nasolacriminal duct drains the tears from the surface of the eye into the nose. This duct is usually developed by birth but up to 1% to 5% of the population may have a duct that is incompletely developed or obstructed. The nasolacrimal duct has three valves in it and the majority of nasolacrimal duct obstructions occur at the most distal valve that is located in the nose (Hasner's Valve).

Who gets a Blocked Tear Duct?

Babies begin to produce tears at two days to two weeks after birth. You may notice excessive tearing from one or both of your infants' eyes during this time. Rarely, adults get a blocked tear duct because of an infection, an injury, or a tumor.

What are the Symptoms of a Blocked Tear Duct?

The main symptom of a blocked tear duct is increased or excessive tearing.

How is a Blocked Tear Duct Diagnosed?

A blocked tear duct is diagnosed after a standard eye exam or an internal examination of the nose. If necessary, the drainage of the tears can be tracked by an eye stain.

How is a Blocked Tear Duct Treated?

Nearly half of the cases of nasolacrimal duct obstruction will resolve spontaneously by 6 months of age. A pediatric ophthalmologist may need to probe your childs eye between 6 to 12 months of age to help open up the obstruction. In rare circumstances, the probing does not fix the problem completely and a silicone stint may have to be placed in the nasolacrimal duct for 1 to 3 months to help keep the duct open.

In the meantime, your health care provider may choose to prescribe antibiotic drops or ointment if your child has persistent yellow drainage from the eye. Some health care providers recommend a massage technique to try to unblock the duct. Two methods have been recommended. You may place a washed finger between the nose and the inner corner of the eye. Massage downward (inferiorly) in an attempt to push the tears through the nasolacrimal duct via its normal path. Another recommendation calls for a superior motion in the same location, pushing the tears out of the duct. You should do this procedure at every other feeding for a newborn.

What are the Complications of a Blocked Tear Duct?

A blocked tear duct can cause a significantly higher amount of eye infections resulting in yellow discharge from the eye. These infections can be treated by antibiotic eye drops or ointment.

Rarely, your child may develop a bluish swelling on the skin between the nose and the inner corner of the eye(an amniotecele). Massage may be attempted. However, if the swollen area becomes red and inflamed, you should contact your health care provider immediately for an abscess may be developing which requires IV antibiotics and probing.

References

Nelson LB, Calhoun LJ, Menduke H. Medical Management of congenital nasolacrimal duct obstruction. Pediatrics 76: 173 1985

Wright, KW. Pediatric Ophthalmology for Primary Care, 2003, American Academy of Pediatrics

Reviewed by: Evan Taragano MD

This Article contains the comments, views and opinions of the Author at the time of its writing and may not necessarily reflect the views of Pediatric Web, Inc., its officers, directors, affiliates or agents. No claim is made by Pediatric Web, the Author, or the Authors medical practice regarding the effectiveness and reliability of the statements contained herein and such individuals and entities disclaim any and all liability for the comments and statements contained in this Article and for any use or misuse of the statements made in this article in any specific medical situations. Further, this Article is intended to be general in nature and shall not be considered medical advice. The statements made are not to be utilized to diagnose and/or treat any individuals medical symptoms. If you or someone you know has symptoms which you believe are similar to this Article, you should discuss such symptoms with your personal physician or other qualified medical practitioner.

Copyright 2012 Pediatric Web, Inc., by Dan Feiten, M.D. All Rights Reserved

Tetralogy of Fallot 

What is Tetralogy of Fallot?

Tetralogy of Fallot is a congenital heart condition that involves the incorrect formation of the septum between the right and left ventricles. This condition results in mixing of oxygen-rich and oxygen-poor blood across the ventricular septal defect inside the heart. This causes an overall decrease in the amount of oxygen in the blood.

The four functional heart problems that make up a tetralogy of Fallot are:

  • A hole between the ventricles, the lower chambers of the heart. This is called a ventricular septal defect(VSD).
  • A blockage or kink in the pulmonary artery where blood flows from the heart to the lungs
  • The aorta, the largest blood vessel, lies over the VSD, the hole in the lower chambers of the heart
  • The muscle surrounding the lower right chamber is too thick

Tetralogy of Fallot is a congenital heart defect, meaning children are born with it. The cause of the condition is not known. In some situations, it may be associated with certain genetic syndromes, like Di George syndrome.

Children usually show symptoms of the condition and are diagnosed shortly after birth. With treatment, kids with tetralogy of Fallot can lead normal, healthy lives. However, if your child has tetralogy of Fallot, he or she will need follow-up care to monitor any changes in the heart.

How is Tetralogy of Fallot treated?

Surgery is the only definitive treatment for children with tetralogy of Fallot. Your doctors will likely schedule your child's surgery by the time he or she turns one year old.

During the surgery, a pediatric cardiac surgeon will fix the hole between the ventricles (the ventricular septal defect) using a patch. The surgeon will also widen the pulmonary artery and fix any problems with the pulmonary valve. This repair will help more blood reach the lungs. The entire procedure is known as intra-cardiac repair.

If your child is too ill or too small for intra-cardiac repair, surgeons will create a temporary solution called a shunt. This is a bypass from the aorta to the pulmonary artery, which will increase blood flow to the lungs until your child is big enough for the final procedure.

What are the signs and symptoms of Tetralogy of Fallot?

Children with this heart condition often have a blue tint to their skin, lips and fingernails. This is called cyanosis and means that not enough oxygen-rich blood is reaching the child's body.

Sometimes, a baby only shows signs of cyanosis after crying or feeding. These episodes are called "Tet spells."

Other symptoms of tetralogy of Fallot are:

  • Trouble feeding
  • Poor growth and weight gain
  • Fainting
  • Clubbed fingers

If your child is having any of these symptoms, especially cyanosis, contact us immediately.

Diagnosing Tetralogy of Fallot

If us suspects your child has a congenital heart defect, he or she will want to do more tests to examine the heart. These tests will help your cardiologist identify the problem affecting your child and create a treatment plan.

Tests that help cardiologists diagnose tetralogy of Fallot are:

  • Chest x-ray
  • EKG
  • Holter and event monitors
  • ECHO

Helpful resources

If you'd like to learn more about tetralogy of Fallot, visit:

 

 

 

 

 

 

 

 

Reprinted with permission from Children's Hospital Colorado 2012, All rights reserved.

Thyroid Problems 

What is hypothyroidism?

Hypothyroidism is a deficiency in thyroid hormone secretion and a reduction of action of its hormones on the cells of the body. In children, there are two forms: (1) congenital hypothyroidism, present at birth; and (2) acquired hypothyroidism, a disease with an onset at any time after birth, usually after six months of age. In each of these two forms, there are two categories: (1) primary hypothyroidism, a failure of secretion by a damaged, defective, or absent thyroid gland; and (2) hypothalamic/pituitary hypothyroidism, a failure of the mechanism that stimulates the thyroid gland from the base of the brain, called the hypothalamus and the pituitary gland.

The thyroid hormones are called thyroxine, or T4, and triiodothyronine, or T3. The pituitary hormone that stimulates the thyroid gland is called thyroid stimulating hormone, or TSH.

What causes hypothyroidism?

In most cases, the cause of congenital hypothyroidism is not known. A few cases of inherited hypothyroidism are caused by mutations in the genes producing specific proteins (known as enzymes) that are required to make thyroid hormones. These mutations are inherited as autosomal recessive traits, i.e., the parents are unaffected, and the child is affected because the child receives a mutation from each parent. The parents have a one-in-four chance of having an affected child. Occasionally, a maternal disease or a medication can interfere with the thyroid gland of the unborn child. In certain areas of the world, a dietary lack of iodine causes hypothyroidism.

Most cases of acquired hypothyroidism are caused by autoimmune thyroiditis, a self-inflicted destruction of the thyroid by the body's immune system. The processes that cause this condition are poorly understood. An inappropriate immune response is directed against the thyroid; the body does not recognize its own thyroid gland and generates an immune response against the normal thyroid cells to cause inflammation, irritation, or damage. Infrequently, surgical removal of the thyroid, certain medications or chemicals, or damage by radiation treatment for cancer may cause hypothyroidism.

Who gets hypothyroidism?

In most cases, congenital hypothyroidism is sporadic. It occurs worldwide, once in every 4,000 newborn infants, and affects girls twice as often as boys. In the inherited forms, an equal number of males and females are affected. An infant born to a mother with iodine deficiency, or an infant receiving, or exposed to a mother given, excessive amounts of iodine for antiseptic reasons may have hypothyroidism. The problem will continue until exposure to deficient or excessive iodine is corrected.

The majority of cases of acquired hypothyroidism occur in females with autoimmune diseases. It may occur: (1) as autoimmune thyroid disease only; (2) in association with other autoimmune diseases, such as insulin-dependent diabetes mellitus, alopecia (hair loss), rheumatoid arthritis, and lupus erythematous; or (3) in association with other diseases, such as Down syndrome and Turner's syndrome.

How does hypothyroidism cause disease?

Thyroid hormones regulate metabolism, i.e., the amount of energy that is available for body functions. The production of proteins, especially those called enzymes, is controlled by thyroid hormones. They regulate how much sugar is converted to energy, how much protein is converted into muscle, and how much fat is stored and available for energy. From early in fetal life through two to three years of age, thyroid hormones acquired from the mother and those produced by the unborn child in the second and third trimesters of pregnancy are essential for normal brain development.

What are the common findings?

The common findings of hypothyroidism are summarized in the table. The appearance of a specific symptom and sign depends upon the age when hypothyroidism develops and its severity. Often, the findings in a child may not be obvious to the parents or the physician.

Table. Common findings of hypothyroidism.

Congenital hypothyroidism

Acquired hypothyroidism

Findings during first two weeks of life - Prolonged yellow jaundice - Swelling of the eyelids, hands, and feet - Gestation more than 42 weeks - Birth weight more than 4 kg - Poor feeding - Low body temperature - An enlarged, swollen abdomen - Large midline fontanelles

Findings beyond age one month - Darkening and mottling of the skin - Stressful, frequent, and labored breathing - Failure to gain weight; poor sucking ability - Decreased stool frequency - Decreased activity and lethargy

Findings after age three months - Swollen and protuberant umbilicus - Infrequent and hard stools - Dry skin with yellow coloration - Large tongue - Generalized swelling - Hoarse cry

Findings between six months and three years - Deceleration of linear growth - Coarse facial features - Dry skin with yellow coloration - Hoarse cry and large tongue - Swollen and protuberant umbilicus - Enlargement of the arm and leg muscles

Findings during childhood - Slow growth and short stature - Delay in eruption of teeth and in shedding primary teeth - Muscle weakness; enlargement of the arm and leg muscles - Infrequent and hard stools - Dry skin with yellow coloration - Generalized swelling - Early sexual development

Findings during adolescence - Late onset of puberty - Slow growth and short stature - Delay in eruption of teeth and in shedding primary teeth - Infrequent and hard stools - Dry skin with yellow coloration - Discharge from the breasts (in girls) - Generalized swelling

How is hypothyroidism diagnosed?

For newborns in many areas of the world, there are routine, mandated screening programs for congenital hypothyroidism. An elevated TSH on the newborn screening test requires that a repeat TSH test be performed. Other tests are performed to define the cause (inherited or sporadic) and the severity of hypothyroidism. In older infants and children, hypothyroidism is suspected by: (1) the presence of a large thyroid gland, or goiter, on examination of the neck; (2) a failure to maintain a normal rate of growth in height; (3) the symptoms and signs of hypothyroidism (see table); (4) a suspicion of it because members of the family have thyroid diseases; or (5) a routine screening for TSH in children at increased risk for hypothyroidism.

Hypothyroidism is diagnosed by blood tests for TSH and free T4. An elevated TSH is the most sensitive test for thyroid gland failure. A low free T4 is the diagnostic test for hypothalamic/pituitary hypothyroidism, and, usually, it is low in primary hypothyroidism, except in mild cases. Typically, the cause of thyroid gland failure is autoimmune thyroiditis, which is diagnosed by finding thyroid antibodies from a blood test. When the TSH value is increased and the T4 value is decreased, treatment with thyroxine is started. Thyroxine treatment usually is started when the TSH value is increased, yet the T4 value still is normal, as long as the cause of hypothyroidism is known.

In patients with hypothalamic/pituitary hypothyroidism, there usually are other pituitary hormone deficiencies, such as low levels of growth hormone (when the patient is subjected to growth hormone secretion tests); low levels of the sex hormones at the pubertal ages; and, less often, low levels of hydrocortisone and high levels of prolactin, which is the pituitary hormone that stimulates the secretion of milk in the mother after delivery.

How is hypothyroidism treated?

Treatment for hypothyroidism is easy and inexpensive. Typically, levothyroxine (L-thyroxine) is prescribed, and the tablets should be given at least 30 minutes before a meal or infant feeding. The daily dose per body weight steadily decreases from early infancy to childhood to an adult dose in adolescence. Treatment must be individualized; the amount that is absorbed and handled by the body differs among individuals. Careful monitoring of blood tests (TSH and free T4 or T4) until the values are normal, and then annually after three years of age once the tests become normal, is essential for optimal management.

What are the complications?

There are no complications from L-thyroxine treatment when the proper dose is taken and the blood tests are monitored on a regular basis. There are complications associated with unrecognized or inadequately treated hypothyroidism, and the worst outcome occurs if treatment is delayed in early infancy. Severe hypothyroidism before birth, and a delay of treatment after birth, is associated with an impaired intellect (as determined by IQ tests) and other neuropsychological abnormalities. After two or three years of age, there are adverse effects of untreated hypothyroidism; however, in most cases, they are reversible with adequate treatment.

Usually, if hypothyroidism is not adequately treated within approximately the first 6 to 12 months after its onset, a decrease in the rate of growth and, in many instances, shortness of stature occur. If prolonged into the adolescent years, the final adult height may be less than expected despite appropriate treatment. Prolonged hypothyroidism also is associated with high levels of cholesterol, slowing of mental function and school performance, an occasional episode of hip or knee pain from a slippage of the growth center of the hips (usually requires surgical intervention), and chronic constipation. Except for the normalization in growth, these abnormalities should disappear with appropriate treatment.

How can hypothyroidism be prevented?

Hypothyroidism cannot be prevented unless it is caused by a nutritional deficiency of iodine; excessive iodine intake; certain drugs, like lithium, that block the ability of the thyroid gland to produce thyroid hormones; or drugs that impair the absorption of thyroxine in those individuals who are taking it for hypothyroidism. If taken with thyroxine, iron medications and high fiber in food will prevent the absorption of thyroxine. Calcium tablets also may interfere with its absorption.

What research is being done?

In congenital hypothyroidism, research is being focused on the mutations that cause the familial thyroid disorders, the cause(s) of the sporadic disease, and the effects of maternal hypothyroidism on the unborn child. There is considerable interest in discovering the mechanisms that cause autoimmune diseases, with a focus on autoimmune thyroid diseases, the occurrence of diabetes mellitus in specific families with autoimmune thyroid diseases, and an understanding of those antibodies that injure thyroid cells and other antibodies that bind to and block the TSH receptor.

Links to other information

References

Familial Thyroid Diseases Including Hypothyroidism

Vassart G, Dumont JE, Refetoff S. Thyroid disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 1995:2883-2928.

Hypothyroidism

Fisher DA. Management of congenital hypothyroidism. J Clin Endocrinol Metab1991;72:523.

Foley TP Jr. Congenital hypothyroidism. In: Braverman LE, Utiger RD, eds. Werner and Ingbar's The Thyroid. 8th ed. Philadelphia: Lippincott-Raven, 2000:chap 82, part B, 977-983.

Foley TP Jr. Acquired hypothyroidism in infants, children and adolescents. In: Braverman LE, Utiger RD, eds. Werner and Ingbar's The Thyroid. 8th ed. Philadelphia: Lippincott-Raven, 2000:chap 82, part C, 983-988.

Foley TP Jr. Hypothyroidism. In: Hoekelman RA, Friedman SB, Nelson NM, Seidel HM, Weitzman M, eds. Primary Pediatric Care. 4th ed. St. Louis: Mosby-Year Book, Inc., 2000:chap 218. In press.

LaFranchi S, Dussault JH, Fisher DA, Foley TP Jr, Mitchell ML. Newborn screening for congenital hypothyroidism: recommended guidelines. Pediatrics 1993;91:1203-1209.

About the Author

Thomas P. Foley, Jr. MD is Professor of Pediatrics in the School of Medicine and Professor of Epidemiology in the Graduate School of Public Health at the University of Pittsburgh and a member of the Medical Staff of the Children's Hospital of Pittsburgh since 1971. Areas of scientific interest include (1) pediatric thyroidology with specific interests in congenital hypothyroidism, acquired hypothyroidism, hyperthyroidism and thyroid cancer; (2) auxology; and (3) international pediatrics with specific interests in radiation-induced thyroid cancer associated with the Chernobyl accident, autoimmune thyroid diseases, iodine deficiency disorders, newborn screening, toxicology and the effects of maternal hypothyroidism on fetal development. My personal interests are my family (wife, son and step-children), music (opera, classical music and traditional bluegrass music as lead vocal and guitar for The Allegheny River Boys, Revonah RS-506, 1978), sports (spectator and participant) and humanitarian assistance for children and child health through Child Health International (web site of a subsidiary:trfn.clpgh.org/orgs/bach).

Copyright 2012 Thomas P. Foley, Jr., M.D., All Rights Reserved

Tinea (ringworm infection) 

What is tinea (or a ringworm infection)?

Tinea, also referred to as ringworm, is a common fungal infection of the skin. Fungi are widespread in the environment. There are thousands of fungal species, but only approximately 200 species regularly infect humans, causing either superficial or deeper infections, and, occasionally, both.

The body area affected by the infection classifies tinea. "Tinea capitis" is a superficial fungal infection involving the scalp, while "tinea corporis" is a superficial fungal infection involving the trunk, limbs, and face. "Tinea manuum," or ringworm, is an infection of the hands, whereas "tinea pedis" is a fungal infection the feet. "Tinea unguium," or "onychomycosis," affects the nails.

What causes tinea?

Dermatophytes, a group of fungi, cause superficial fungal infections, also known as fungal dermatosis, dermatophytosis, ringworm, or tinea.

Who gets tinea?

A dermatophyte infection of the scalp (tinea capitis) and of the general skin surface (tinea corporis) is very common during childhood. Because tinea capitis is no longer reportable to the Health Department, the true incidence is unknown. Probably, the highest incidence of tinea capitis occurs among children who are 1 to 10 years of age.

A dermatophyte infection of the hands (tinea manuum) and of the feet (tinea pedis) is more common in adulthood than in childhood. Tinea pedis is probably the most common dermatophytosis worldwide; up to 70% of the population has had this infection. Tinea pedis occurs in males and in females, and the incidence of the infection increases with age. Most cases of tinea pedis occur after puberty. Nail infection (tinea unguium) is unusual during the first two decades of life.

Tinea most commonly occurs in warm, humid, tropical climates. Certain risk factors may increase the likelihood of a person developing an infection. These predisposing risk factors include some systemic disorders and certain environmental and occupational sources. Systemic diseases that may predispose individuals to tinea infections include diabetes mellitus and those with compromised immune systems.

Environmental and occupational risk factors include animal contact, especially with kittens, puppies, and horses; contact sports; use of gymnasiums and swimming pools; and outdoor occupations.

How do dermatophytes cause disease?

Dermatophytes cause infection by invading keratin, which is a protein in the outermost layer of the skin, in the hair, and in the nails. Direct contact with infected animals, soil, or humans causes tinea.

What are the common findings?

Many patients with a mild tinea infection may have no symptoms. Symptoms include itching and burning, especially when the body, hands, or feet are involved. Patients also may complain of tenderness, swelling, and pain in the affected area. The more severe the infection, the worse the symptoms may become.

Tinea capitis appears as a combination of hair breakage and loss, redness, and scaling of the scalp. The extent of scalp redness and scaling varies from person to person. There can be minimal scaling and redness that resembles a mild form of dandruff, or there can be marked redness, swelling, puss formation, and hair loss.

Some patients have a strong reaction in their scalp to the dermatophyte, and may develop tenderness, pain, and swelling of the lymph nodes in their neck. Rarely, patients have an elevated white blood cell count. A long-term, severe case of tinea capitis that is not treated adequately may lead to permanent hair loss and scarring.

Tinea corporis is a dermatophyte infection of the general body surface. Physical examination reveals individual and grouped round patches of red, scaly skin. These round patches, or "rings," (hence the term, "ringworm") progressively enlarge and migrate outwards from the center of the ring to form expanding rings. As the ring expands, the center of the ring often becomes clear. Tinea corporis is similar in its appearance virtually anywhere on the body. Tinea faciei appears on the face, and tinea cruris is an infection that involves the upper thigh and groin area.

A tinea infection of the hands primarily involves the palms, with a dry scale often looking like small circular areas of scale. Occasionally, a tinea infection of the hands can have small blisters on the palms. For unknown reasons, a tinea infection of just one hand, in conjunction with an infection of both feet, is the most common pattern.

Usually, tinea pedis is red and scaly between the toes and on the soles. The skin of the web spaces between the toes can become red, softened, and swollen. The redness and scaling can spread to the side of the foot. Blister formation is more common on the feet than with the other tinea infections.

A tinea infection of the nails (tinea unguium or onychomycosis) invades the nail plate, and causes the nail to lift, thicken, discolor, and become fragile.

How is tinea diagnosed?

An appointment should be made with a primary care provider or a dermatologist for diagnosis and treatment, if an individual experiences the following: hair loss, accompanied by redness and scaling of the scalp; patches of red, circular, scaly skin on the body, hands, or feet; blisters on the palms and soles; or nail changes.

The health care provider will sample a small piece of scale or blister, hair, or nail, and analyze it under the microscope for a fungal organism to establish the diagnosis. This test is called a potassium hydroxide preparation (KOH). Occasionally, the fungal branches and spores characteristic of the infection cannot be seen under the microscope, and a fungal culture will be sent to the laboratory to establish the correct diagnosis. It may take two to four weeks to obtain the fungal culture results.

How is tinea treated?

Tinea infections are treated with topical or systemic oral antifungal medications, and, occasionally, both. Anytime the infection involves the hair or the nails, an oral antifungal medication must be used. When only the skin is involved, a topical antifungal medication is usually sufficient, if the infection does not cover a large body area.

If a large percentage of the body surface is involved, an oral and topical antifungal medication may be prescribed. Antifungal drugs have become increasingly effective in the treatment of tinea infections, especially the newer antifungal drugs on the market. Experience with most of the newer antifungal drugs is limited to patients over 12 years of age.

Griseofulvin was the first significant oral antifungal on the market used to treat tinea infections. It continues to be the preferred drug in the pediatric population because of its long history of effectiveness, its low cost, and its proven safety profile. Griseofulvin is used frequently to treat tinea capitis and tinea corporis in children. It also is used to treat tinea manuum and tinea pedis.

Common side effects of griseofulvin include headaches and gastrointestinal upset. Rarely, allergic rashes from griseofulvin occur. Griseofulvin may make a patient more sensitive to the sun, and the patient is at risk of developing a photosensitive rash or a sunburn.

Many very effective topical antifungal medications are available over the counter, and they can be used one to two times daily to clear infections (except tinea capitis and onychomycosis). Blistering skin eruptions on the palms and soles should be treated with cool compresses, such as Burrow's solution. Large blisters should be opened and drained for comfort.

The newer antifungal medications on the market, namely Itraconazole and Terbinafine, are very effective for nail infections. Your primary care provider will help you to decide which topical and/or oral antifungal medication is most appropriate for your child.

What are the complications?

Tinea infections may lead to secondary bacterial infections, hair loss, and scarring. Occasionally, patients will have swollen lymph nodes that may persist

How is tinea prevented?

A cool, dry environment, as well as avoiding exposure to infected animals, soil, and humans, may help reduce infections. Good personal hygiene, thorough drying of the hands and feet, absorbent socks, and wearing breathable natural materials may help prevent infection. For patients that experience recurrent tinea pedis infections, light, ventilated footwear or sandals and a medicated foot powder may be helpful. Sprays or powders with antifungal activity applied into footwear also may help prevent reinfection. Treatment is usually permanent, although the infection may recur.

References

Buttaro, T., Trybulski, J., Bailey, P., Sandberg-Cook, J.: Primary Care: A Collaborative Practice, ed. 1, St. Louis, 1999, Mosby, Inc.

Hurwitz, S.: Clinical Pediatric Dermatology, ed. 2., Philadelphia, 1993, W.B. Saunders Company

Weston, W.L., Lane, A.T., and Morrelli, J.G.: Color Textbook of Pediatric Dermatology, ed. 2, St. Louis, 1996, Mosby, Inc.

About the Author

Dr. Capin received her medical education and completed her dermatology residency at the University of Colorado. A Fellow of the American Academy of Dermatology, she is board certified in Dermatology.

She has been in practice at the Aurora/Parker Skin Care Center for twelve years, and recently opened CARA MIA Medical Day Spa in Parker, Colorado. She enjoys teaching, and often has students with her during office hours.

She is experienced in medical and surgical dermatology, as well as cosmetic dermatology. She is often asked to participate in conferences, and speaks internationally.

Copyright 2012 Leslie Capin, M.D., All Rights Reserved

Toxic Shock Syndrome 

What is Toxic Shock Syndrome?

Toxic Shock Syndrome (TSS) is an acute, severe disease that is characterized by fever, shock, and a sunburn-like rash. TSS is commonly associated with females who are menstruating and using tampons, but it can occur in boys and girls of any age. Fortunately, if recognized early, TSS can be successfully treated.

What causes Toxic Shock Syndrome?

TSS is caused by a toxin (i.e., a poison) at the site of an infection in the body produced by a bacterial organism called Staphylococcus aureus. This organism commonly causes wound infections and abscesses in children. The growth conditions at the site of the infection (which also can occur in adolescent girls who are menstruating and using tampons) provide the organism with the proper nutrients to produce a potent toxin that circulates throughout the body.

Who gets Toxic Shock Syndrome?

Boys and girls of any age can get TSS. It is not just a disease associated with tampons; however, any tampon brand or type, or other inserted vaginal device (e.g., a contraceptive sponge or a diaphragm), can cause the disease if it catches the right patient at the right time. Even so, most children will never be at risk of getting TSS, because they have already developed immunity to the toxin.

How does the toxin cause disease?

A toxin produced at the site of the infection can get into the bloodstream and then go to all of the organs of the body. It damages the blood vessels, and they leak fluid into the tissues. This fluid loss can lead to shock, as well as injury to many organs, including the skin, kidney, liver, brain, and heart.

What are the common findings?

TSS begins with a fever, nausea and vomiting, diarrhea, and a sore throat. The symptoms of TSS are very similar to many other less severe and more common childhood illnesses. However, TSS then progresses to a sunburn-like rash, with signs of early shock, which may be characterized by dizziness, fainting, or confusion.

How is Toxic Shock Syndrome diagnosed?

Doctors diagnose TSS by examining the patient and noting the common signs of the disease in the presence of menstruation and tampon use, or a possible site of bacterial infection, such as a wound infection or an abscess. TSS should be suspected in boys and girls of any age who have a fever or a possible Staphylococcus infection (e.g., a wound infection, an abscess, or a boil), and any of the following symptoms: sunburn-like rash; fainting, dizziness, or confusion; or menstruation and tampon use.

How is Toxic Shock Syndrome treated?

TSS is treated by administering antibiotics to kill the organism, and cleansing the site of the infection (i.e., removal of a tampon or other vaginal device in girls who are menstruating, or surgical drainage if an abscess or a wound infection is present). Patients are admitted to the hospital and given intravenous fluids. If organ failure occurs, patients may be treated with other medications.

What are the complications?

Most children with TSS survive, especially if the disease is treated early in its course. Less than 5% of cases are fatal. Most patients will have peeling of the skin on their fingers and toes after several weeks, and, a month later, some transient hair loss may occur. Adolescent girls may experience increased swelling of the hands and feet during menstruation for several months. Some girls may have recurrences of TSS if they use tampons during menstruation in the six months after their first episode.

How can Toxic Shock Syndrome be prevented?

Early recognition and treatment is important. Adolescent girls should be encouraged to use the lowest absorbency tampon that will still control their flow, to change tampons frequently (every four to six hours), and to use pads instead of tampons at night. Although it has been claimed that "all-cotton" tampons have a lower risk of TSS, this is probably not true. A menstruating girl who develops any of the symptoms of TSS (see Table 1) should remove the tampon and immediately seek medical attention.

What research is being done?

Current research shows that TSS is being recognized earlier in its course; therefore, it is being treated more effectively. This has resulted in a decreased fatality rate and less complications. Adolescent girls should be encouraged to read and heed the information regarding TSS on tampon boxes, to learn the warning signs, and to always remove a tampon. If adolescent girls have any symptoms or concerns, they should seek medical attention. Tampon manufacturers are working to make product improvements that will further minimize the already low risk of contracting TSS.

Links to other information

For more information on TSS, log on to the following Web sites:

http://Toxic Shock on MedicineNet

Tampax.com, Toxic Shock

http://www.kidshealth.org/parent/common/toxic_shock.html

References

Kurtz B, Combs P, Todd A, Anderson J, Todd J. Epidemiology of toxic shock syndrome in Colorado, 1970-1996. Royal Society of Medicine Int Congress Symp. 1998; 229: 24-26.

Todd JK, Todd BH, Franco-Buff A, Smith C, Lawellin DW. Influence of focal infection conditions on the pathogenesis of toxic shock syndrome. J Infect Dis 1987;155:673-81.

Todd JK. Toxic shock syndrome. In: Principles & Practice of Pediatric Infectious Diseases, 1996.

Copyright 2012 James K. Todd, M.D., All Rights Reserved

Toxoplasmosis 

Read more about this here.

Turner Syndrome 

What is Turner Syndrome?

Turner syndrome is a genetic disorder that occurs exclusively in girls and results from an abnormality of a chromosome. Chromosomes are material in the cells of the body which contain genes that determine each person's characteristics.

Everyone has 22 pairs of chromosomes in addition to a pair of sex chromosomes, called X and Y. A female has two X chromosomes (referred to as a XX karyotype), and a male has one X and one Y chromosome (XY karyotype).

In Turner syndrome, one of the X chromosomes is missing (XO karyotype) or is structurally abnormal (XX(abnormal)). This results in a variety of physical manifestations (findings) with the most common being short stature.

What causes Turner Syndrome?

There is no known cause of why this chromosomal abnormality occurs. Neither parent is responsible for this happening nor can they prevent it.

It is not associated with parental age or environmental factors such as maternal drug abuse, alcohol consumption, medication, cigarette smoking, etc. Parents who have one daughter with Turner syndrome do not have an increased risk of having additional daughters with this syndrome.

The incidence of Turner syndrome is approximately 1:2000 live female births. However, the chromosomal abnormality is actually more common than this as 99% of XO fetuses do not survive beyond 28 weeks gestation, and the XO karyotype occurs in 1 out of 15 miscarriages.

Girls with Turner syndrome may have some normal cells in their body (46,XX) with other cells showing the abnormal karyotype 45, XO or 46, XX(abnormal). These girls are described as Turner mosaics and generally have less manifestations of the syndrome.

How does it cause disease?

The X chromosome contains important genes for traits like stature and ovarian function. Consequently, by having a missing or abnormal X chromosome, girls with Turner syndrome will have findings that relate to what those genes code (for example, short stature and ovarian dysfunction).

Clinical Findings in Turner Syndrome?

There are multiple findings in girls with Turner syndrome and they occur with varying frequencies. Consequently, not all features will necessarily be present in each affected girl. In fact, short stature in many girls may be the only manifestation. A list of the common findings are presented in the Table and discussed in the following sections.

Clinical Findings in Turner Syndrome and Their Incidence

 
Finding
Approximate Incidence(%)
Short stature
100
Short neck
40
Scoliosis
35
Characteristic facial features
35
Webbed neck
25
Low posterior hairline
42
Edema of hands/feet
22
Ovarian failure
95
Infertility
99
Moles
25
Heart abnormalities
55
Kidney abnormalities
39
Thyroid disease
35
 

Skeletal Growth Disturbances?

The most common physical abnormality in girls with Turner syndrome is short stature. This is thought to be primarily a result of an abnormality of the growth response of the skeleton. Affected girls usually show an early decline in their growth within the first few months of life followed by a normal or near normal growth velocity until between 3 and 5 years of age. After 3 to 5 years, growth becomes increasingly abnormal (see Figure) so that the height of a Turner girl falls further and further below the normal curve. The average Turner adult height reached is 4 feet 8 inches, compared to an average adult female height of 5 feet 41/2 inches. There are genetic influences so that Turner girls who have tall parents typically will be taller than the average Turner height and likewise girls with short parents will be shorter.

Figure. Growth curve for girls with Turner Syndrome. (Provided as a service of Genentech, Inc. � Genentech, Inc., 1987. All rights reserved.)

Some girls with Turner syndrome have a distinctive facial appearance, and this is due in part to abnormal development of the bones in the face. Characteristic features include a small chin, downward droop of the outer corners of the eyes, and an abnormally arched palate (roof of mouth)

Lymphatic Development

Many girls with Turner syndrome have maldevelopment of their lymphatic system. The lymphatic system is a collection of vessels that bring fluid from body tissues back to the heart. As a result of lymphatic obstruction, there is extra fluid in a Turner fetus referred to as lymphedema. There is often a large collection of fluid in the neck, and when this fluid eventually decompresses, the skin remains stretched and can appear "webbed". The stretching of the neck skin also results in a low posterior hair line, low-set and rotated ears, and extended growth of the eyebrows. Lymphedema of the hands and feet in a Turner fetus may cause abnormal development of fingernails and toenails. If this edema is present in a newborn, there is the appearance of "puffy" hands and feet. This typically resolves within the first few weeks/months after birth.

Ovarian Failure?

The ovaries in girls with Turner syndrome initially develop normally in the fetus. However, if there are not two normal X chromosomes in the ovarian cells, there is early egg loss and scarring of the ovaries. This process can occur entirely prenatally or within the first few months or years of life. The ovaries also produce the hormone estrogen which is responsible for sexual development in girls. Consequently, the majority of girls with Turner syndrome do not show spontaneous puberty such as breast development and menstrual periods. Most girls are also infertile.

In approximately 10 to 20% of Turner girls, there will be some ovarian function at puberty that allows for a little bit of breast development. A small percent of this group will also have normal periods, and an even smaller percent (less than 1% of all girls with Turner syndrome) will actually be fertile. Pregnancy has been reported in a small number of girls with Turner syndrome; however, there is an increased risk of chromosomal abnormalities in the children of these women. Girls who are Turner mosaic have a greater chance of retaining some or all of their ovarian function.

Heart Abnormalties?

There is an increased risk of heart abnormalities in Turner girls. Coarctation of the aorta is a condition where there is a narrowing of the aorta (the main blood vessel coming from the heart). This occurs in 15 to 20% of Turner girls and is more common in girls with a webbed neck. If found, this abnormality requires surgical treatment. A more common abnormality that occurs in up to 30% of girls is a bicuspid aortic valve. The normal valve of the aorta has three leaflets whereas a bicuspid valve only has two. Girls with bicuspid valves need cardiology follow-up but do not require surgical repair. High blood pressure may also occur in Turner girls but is not typically evident until adulthood. There is also a risk of dilation of the aorta that if not diagnosed and treated can rupture and cause significant morbidity and/or mortality. It is not clear whether girls who have normal hearts are at risk for dilation of the aorta or if it only occurs in those with abnormal hearts (i.e., coarctation or bicuspid valve). Because of this uncertainty, it is the opinion of this author that girls with normal hearts have a cardiology evaluation every 4-5 years.

Kidney Abnormalties?

Kidney abnormalities occur in 30-40% of girls with Turner syndrome. These abnormalities typically involve the structure, position, or blood vessels of the kidneys. Usually there are no health consequences of these abnormalities. Rarely patients require surgery or have any kidney impairment.

Otitis Media (middle ear infections) and hearing loss?

One of the most common medical problems in girls with Turner syndrome is recurrent ear infections. Abnormal development of the bones of the face leads to an abnormal relationship between the middle ear and eustation tube, which creates a predisposition to fluid collection in the middle ear and infection. Hearing loss may be a consequence of recurrent ear infections and fluid in the middle ear. This is referred to as conductive hearing loss.

Hearing loss that is not associated with ear infections (referred to as sensorineural hearing loss) also occurs in a high percentage (about 64%) of Turner girls. This hearing loss can become worse with age; consequently, girls with Turner syndrome should have regular assessments of their hearing.

 

Other Medical Conditions?

Other disorders that are seen with increased frequency in girls with Turner syndrome include hypothyroidism and gastrointestinal disorders. Diabetes mellitus may also occur but generally not until adolescence or adulthood.

Neuro-psychological Findings

The intelligence of girls with Turner syndrome is normal; however, there is often impairment in motor skills, visual-motor coordinating, and visualizing objects in relation to each other. This type of impairment is termed nonverbal learning disability (NVLD), often manifested by a discrepancy between verbal and performance IQ scores with verbal scores being higher.

Girls with Turner syndrome and NVLD have difficulty with mathematics, tasks requiring manual dexterity, and poor directional sense (i.e., difficulty with left and right). These girls may also show social immaturity as they have difficulty understanding social and nonverbal cues.

These neuro-psychological findings are seen in a high percentage of, but not all Turner girls. Consequently, it may be beneficial for girls to have neuro-psychological testing early on so parents and teachers can help girls compensate for this problem.

How Do You Diagnose Turner Syndrome

A girl who has the clinical findings suggestive of Turner syndrome should have a chromosomal analysis done by a simple blood draw. The blood is sent to a laboratory where specialists separate the chromosomes in the white blood cells and count and examine them carefully.

Since poor growth may be the only finding in many girls with Turner syndrome, this test should be strongly considered in any girl who has unexplained short stature.

Follow-up Studies

Once the diagnosis of Turner syndrome has been established by chromosome analysis, additional studies and tests are indicated. Because of the risk of hypothyroidism, thyroid tests should be done on a yearly basis.

In girls who are older than 10 years, blood studies can also be done to assess for ovarian function. An ultrasound of the kidney allows for detection of any abnormality. If this study is normal, it does not need to be repeated.

A cardiology consultation should be obtained in all girls, and part of this evaluation generally includes an echocardiogram (ultrasound of the heart). Girls with Turner syndrome should also be referred to a pediatric endocrinologist as soon as the diagnosis is made.

Treatments

Growth hormone therapy has been shown in several studies to increase final height in girls with Turner syndrome by up to 3-4 inches. Turner syndrome is one of the three FDA approved indications for growth hormone treatment in children.

At this time, growth hormone therapy should be considered as soon as a Turner girl has dropped below the fifth percentile of the normal female growth curve.

Growth hormone is safe and has only a few rare adverse side effects. A pediatric endocrinologist monitors girls on growth hormone therapy every 3-4 months for response and possible side effects. Currently, patients receive growth hormone as a daily subcutaneous injection (just under the skin).

In girls who have ovarian failure, estrogen is started sometime between ages 12 and 14 years to allow for pubertal development. Progesterone (another important hormone that the ovary makes) is typically added 1 to 2 years after estrogen is started. Both of these hormones can be taken orally as tablets; estrogen is also available as a patch preparation.

Although the majority of Turner girls are infertile, they can be the recipient of an embryo (donated egg which is fertilized in vitro) and can carry a pregnancy successfully to term.

Other treatments are indicated according to the clinical findings, i.e., hypothyroidism, heart abnormalities, etc.

Research

There is currently a national multi-center study giving growth hormone to toddler girls (ages 9 months to 4 years) to see if it can prevent the early fall off in growth that girls with Turner's syndrome have. Frequency of ear infections, and hearing and development assessments are also monitored in this study. The Turner's Syndrome Society web sitehas information on this study and others.

Links

http://turnersyndrome.org/

http://members.tripod.com/tsmagicmom/index.html

References

Lippe BM: Turner Syndrome. In Sperling MA (ed): Pediatric Endocrinology. Philadelphia, WB Saunders, 1996, pp. 387-421.

Rosenfeld RG, Attie KM, Frane J, et al: Growth hormone therapy of Turner's syndrome: Beneficial effect on adult height. J Pediatr 132:319, 1998.

Rosenfeld RG, Tesch LG, Rodriguez-Rigau LJ, et al: Recommendations for diagnosis, treatment, and management of individuals with Turner syndrome. The Endocrinologist 4:351. 1994.

About the Author

Dr. Travers is an Assistant Professor of Pediatrics at the University of Colorado Health Sciences Center. She is board certified in both Pediatrics and Pediatric Endocrinology.

She is a clinician at The Children's Hospital of Denver and sees children with a variety of endocrine disorders. Her clinical and research interests include Turner Syndrome and obesity in childhood.

Copyright 2012 Sharon H. Travers, M.D., All Rights Reserved

Underdeveloped Lungs 

What is Lung Hypoplasia?

In general terms lung hypoplasia means under developed lungs. Hypo means small, plasia means formed. The lungs are a vital organ and without them we can not live. The lung is made up of small gas exchange units called alveoli. Alveoli are thin walled structures that are surrounded by small veins and arteries called capillaries. Gas in the alveoli is exchanged with gas in the blood allowing oxygen to be delivered to tissue as a key element for body function and carbon dioxide to be eliminated from the body.

When the lung is hypoplastic the number of alveoli that are available for gas exchange are decreased. If the lungs are very hypoplastic the number of gas exchange units reaches a critically low level and adequate gas exchange can not be maintained. Newborn babies with very hypoplastic lungs die of lung failure in the first few days of life if they cannot be supported long enough to grow more lung.

What Causes Lung Hypoplasia?

The lung begins forming very early in fetal development. Any thing that restricts growth of the chest can cause the lung to be under developed. It is important to distinguish lung hypoplasia from lung immaturity. They are not the same things though, functionally, they have the same effect. Both lead to inadequate gas exchange and lung failure. Babies born prematurely have immature lungs with a developmental normal number of alveoli. The goal in caring for these babies is to support them in a manner that prevents injury to the lung. If injury is avoided these babies can have normal lung development.

In contrast events that impact fetal lung growth may effect future lung growth and may prevent babies with lung hypoplasia from ever developing a normal complement of alveoli.

The most common causes of poor fetal lung growth are: inadequate amniotic fluid, congenital diaphragmatic hernia, hydrops fetalis, certain types of dwarfism, pulmonary agenesis, cystic adenomatous formation, and cystic hydroma. In each of these anomalies, the fetal lung does not grow to its normal size. Inadequate amniotic fluid is most commonly due to early leaking of amniotic fluid due to premature rupture of the membranes that surround the fetus. This is known as oligohydramnios (too little amniotic fluid). If amniotic fluid leaks out from around the baby, the chest wall movement that occurs with fetal breathing may be restricted. Fetal breathing and adequate fluid pressure are both believed vitally important for normal lung development.

The second most common cause for inadequate amniotic fluid is fetal renal anomalies. Amniotic fluid is produced by the amniotic membranes and by the fetal kidneys. Severe abnormalities of the kidneys (eg. polycystic kidneys, hydronephrosis, renal agenesis) can cause too little amniotic fluid to be formed (oligohydramnios) and are commonly associated with lung hypoplasia. Babies with kidney and lung problems have a particularly grave prognosis because they have two organ systems that have failed.

Structural problems in development may also impair lung growth. In babies with congenital diaphragmatic hernia, the diaphragm that separates the lung form the abdomen fails to develop. As a consequence, the intestines move into the chest cavity and restrict lung growth. Similarly, certain types of dwarfism or congenital anomalies of the lung restrict the area in which the lungs can grow normally. While most of these anomalies are rare (1:3000), they are commonly life threatening.

Who Gets It?

  1. Babies born to mothers with prolong rupture of amniotic membranes and oligohydramnios.
  2. Newborns with severe renal anomalies, born to mother with resultant oligohydramnios.
  3. Newborns with certain congenital anomalies
    • Congenital diaphragmatic hernia
    • Thanatophoric dwarfism
    • Cystic hydroma
    • Cystic adenomatosis malformation
    • Newborns with hydrops fetalis
    • Newborns with neuromuscular diseases

How does it cause disease?

Small lungs fail to accomplish normal gas exchange (oxygen in, carbon dioxide out.)

Common Findings

The presentation is variable and dependent on the severity of the hypoplasia. Some babies may present with mild tachypnea (fast breathing) others may have signs of severe respiratory failure: fast breathing, labored breathing, blue color, and gasping.

Diagnosis

The most important factors leading to a diagnosis are: history of fetal anomalies associated with lung hypoplasia, history of mom having too little amniotic fluid, and a chest radiograph showing small lungs.

Treatment

Currently, treatment is primarily supportive. This means that there is currently no available medicine that makes babies grow lungs. So, until lung growth occurs to an extent that the lung can support normal gas exchange, the babies must be supported by artificial means. The main problem is that all modes of artificial respiratory support are associated with lung injury. The trick is to support normal gas exchange without causing injury and to support good nutrition so that the lung can grow. Babies have an incredible capacity to grow and develop. In time, if the lung is not too underdeveloped the baby can usually wean off artificial support and go home. Therapies used to support gas exchange in order of level of support are: oxygen, assisted ventilation, high frequency ventilation, and extracorporeal membrane oxygenation (ECMO).

Prevention

There are no methods for preventing babies with certain anomalies from developing lung hypoplasia. Research is currently focused on maintaining normal amniotic fluid and pressure and prevention of restriction of lung growth. Investigators are also looking at factors that promote normal lung growth. The hope is that neonates with lung hypoplasia might be treated with lung growth factors that would promote growth of normal lung, reduce the need for artificial support and its attendant propensity to cause injury and allow for a healthier life.

About the Author

Dr. Clark, a leading clinical researcher for the care of critically ill newborns, is the Director of Research for Pediatrix Medical Group, Inc. and a Consulting Associate Professor at Duke University.

A native of North Carolina, Dr. Clark earned both his Bachelor of Arts and medical degrees from the University of North Carolina at Chapel Hill. He completed his pediatrics residency and his neonatal fellowship at Wilford Hall United States Air Forces Medical Center. He is a board-certified pediatrician and neonatologist.

Copyright 2012 Reese H. Clark, M.D., All Rights Reserved

Urinary Tract Infection 

What is a urinary tract infection?

A urinary tract infection, also called UTI, refers to a bacterial infection of the bladder ("cystitis") or the kidneys ("pyelonephritis").

What causes a urinary tract infection?

A urinary tract infection is caused by bacteria that get into the bladder from the skin surface surrounding the urethra (the opening that urine comes out of). Because of the proximity of the urethra to the colon, organisms like E. coli are common causes of UTI.

How does it cause disease?

Once the bacteria get into the bladder, they can grow in the urine, especially if the child does not empty the bladder frequently, or if there are structural abnormalities of the urinary tract. If the infection of the bladder is not recognized and treated, it can move up the ureters (the tubes that connect the bladder to the kidney) and cause an infection of the kidneys.

Who gets a urinary tract infections?

In the newborn period, both boys and girls get UTI. Boys seem to be at an increased risk if they are uncircumcised with a tight foreskin. Thereafter, UTI is much more common in girls, presumably because they have shorter urethras, leading to more frequent bacterial contamination of the bladder. In girls, itching caused by pinworms, sitting in bathwater for an extended time period, bubble bath, wiping from back to front, and sexual activity increase the likelihood of such bacterial contamination, and thereby increase the risk of UTI. In addition, the bacteria more readily cause infection in those girls who urinate infrequently or incompletely.

What are the common findings?

The symptoms of a urinary tract infection are dependent upon the age of the child. In older children and adults, the symptoms may include a fever and back pain (i.e., a kidney infection), or increased frequency, urgency, or burning on urination (i.e., a bladder infection). Younger children may have enuresis (bed or clothes wetting) or strong smelling urine. Babies and infants often have less specific symptoms, such as a fever, poor feeding, and/or failure to gain weight.

How is a urinary tract infection diagnosed?

Most importantly, a urine specimen must be analyzed to diagnose UTI. The way the specimen is obtained is critical to interpretation. When the child is sick, it is recommended to get a urine specimen by catheter (inserting a thin tube up the urethra into the bladder). Especially in younger children, bag urines, or those obtained by having the child urinate into a cup, often are contaminated, and may confuse the correct diagnosis.

"Clean catch" urine specimens may be useful in boys and older girls who do not have a fever, if obtained by a health professional. The urine should be analyzed immediately or held in the refrigerator. A preliminary "urine analysis" can be performed by dipping a special test strip into the urine; however, it also should be cultured. These results take 24 to 48 hours. Treatment may be started based on the urine analysis.

How is a urinary tract infection treated?

Oral antibiotics, taken for 10 to 14 days, are very effective in the treatment of UTI. Antibiotics can be given at home, unless the child is very young, vomiting, and/or very sick. Once the culture result is known, antibiotics may be changed. Fluids should be encouraged to promote urine flow.

Often, physicians will obtain imaging (e.g., x-rays, ultrasound, or scanning) of the urinary tract in children with UTI. This imaging may help to determine which children require a closer follow-up, or need to see the urologist (a surgeon who specializes in diseases of the urinary tract). Most children with UTI can be cared for very effectively by the primary physician.

What are the complications?

The bacteria that cause a urinary tract infection rarely enter into the bloodstream ("sepsis"). Recurrent kidney infections may cause scarring of the kidneys. However, these complications are more common in children who have significant structural abnormalities of the urinary tract.

How can a urinary tract infection be prevented?

Preventive measures are useful to reduce the recurrence of UTI. Children should be treated for pinworms or constipation, if determined to be present, by a primary physician. Girls should take showers rather than baths, and be taught to wipe from the front to the back (to decrease fecal contamination). Little girls often tend to "hold" their urine, which should be actively discouraged. All children should be encouraged to drink fluids frequently and to urinate every three to four hours (an alarm watch and/or a discussion with the child's teacher often helps).

The primary physician may suggest follow-up appointments for urine testing, or home follow-up using urine testing strips and urine specimens collected first thing in the morning. Any child with a positive home test (if done) or the symptoms of UTI should see a physician. Some children (especially the very young, those with complications, and those with recurrences) may be put on long-term antibiotic therapy to prevent recurrent infections, but this may result in the development of more resistant organisms.

What research is being done?

Current research is focused on better ways to treat and prevent UTI at home. Physicians also are trying to identify how imaging tests can better guide the management of UTI.

Links to other information

For more information on urinary tract infections, visit: National Kidney and Urologic Diseases Information Clearing House.

References

Todd JK. Prevention of urinary tract infection in children. Report on Ped ID 1997;September:7(8);29-32.

Garin EH, Campos A, et al. Primary vesicoureteral reflux: review of current concepts (in process citation). Pediatr Nephrol 1998;12(3):249-56.

Todd JK. Home follow-up of urinary tract infection. Comparison of two nonculture techniques. Am J Dis Child 1977;131(8):860-1.

Todd JK. Office laboratory diagnosis of urinary tract infection. Pediatr Infect Dis 1982;1:126-131.

Hoberman A, Wald ER. Urinary tract infections in young febrile children. Pediatr Infect Dis J 1997;16(1):11-7.

Hoberman A, Wald ER, Hickey RW, Baskin M, Charron M, Majd M, Kearney DH, Reynolds EA, Ruley J, Janosky JE. Oral versus initial intravenous therapy for urinary tract infections in young febrile children. Pediatrics 1999;104:79-86.

Copyright 2012 James K. Todd, M.D., All Rights Reserved

Varicella or Chickenpox 

What is varicella (or chickenpox)?

Varicella, commonly referred to as chickenpox, is an infectious disease that is caused by a virus. The infection produces a rash with fluid-filled "vesicles," or lesions, on the face and body.

What causes varicella (or chickenpox)?

The disease is caused by the varicella-zoster virus, or VZV, a member of the herpes family of viruses. As the name implies, it causes varicella, or chickenpox, as well as "zoster," or shingles. After a recovery from varicella, the virus remains in some of the body's nerve cells in an inactive, or "latent," state. After many decades, the virus may become active again, travel down the nerve cells, and produce a rash on the skin. This rash is similar to the rash produced by varicella; however, the rash in zoster occurs in one segment of the skin, on one side of the body, rather than all over the body, as in varicella. Occasionally, zoster occurs in children, but it most commonly occurs in older adults.

Who gets varicella (or chickenpox)?

Varicella occurs in children. Fewer than two percent of the cases occur in adults. About half of all children will have had varicella by the time that they enter school. Varicella can occur early in infancy, and it can occur in a newborn if the mother had chickenpox just before delivery. Varicella is very contagious. If there is a case of it in a household, there is only a 1 in 25 chance that individuals in the house who are susceptible to varicella will not be infected.

How does the varicella-zoster virus cause disease?

Varicella occurs following close contact with a person who has the disease. Children are contagious the day before the rash, which suggests that they are able to spread the disease from their respiratory tract. The virus is inhaled, and then multiplies in the newly infected person. It is transported in certain blood cells to the skin, where it multiplies and causes the skin lesions, or vesicles.

What are the common findings?

The most common finding of varicella is the fluid-filled skin vesicles, usually no more than an eighth of an inch in diameter, which may have a slight redness around them. They start centrally on the body, and then spread to the arms and the legs. Often, vesicles can be felt on the scalp before they can be seen on the skin. Scabbed or crusted lesions, or a flat or slightly raised red rash, may occur at the same time as the vesicles. Often, scratch marks will result from the scratching of a very itchy rash.

The temperature is generally 100oF to 102oF. There is a cause for concern if a temperature is greater than 103oF. Fussiness may occur, caused mainly by the itching. Respiratory and gastrointestinal symptoms are not usually associated with varicella.

How is varicella (or chickenpox) diagnosed?

Varicella is diagnosed simply by looking. Laboratory testing is rarely required; although, there are tests that can be performed. Chickenpox can be confused with insect bites, hand-foot-and-mouth disease, and rickettsialpox. A history of exposure to a person with either chickenpox or shingles about two weeks previously is helpful in making an accurate diagnosis.

How is varicella (or chickenpox) treated?

Medication to treat the fever rarely is required. Aspirin or aspirin-containing medications (look for "salicylate" on the label) should never be given to children with varicella, because it has been associated with Reye's syndrome. Acetaminophen may prolong the itching. Ibuprofen has been associated with a severe, complicated streptococcal disease, but this drug may have been given for relief of the complication, rather than for treatment of varicella; therefore, it cannot be causally related.

The itching may require treatment. Calomine lotion may be applied to the skin, or the child may bathe in an oatmeal bath (Aveno). The drying of the oatmeal on the skin after the bath may offer relief. Oral medications, such as Benadryl, also are available. Since it may cause sleepiness, Benadryl is best used at bedtime. Your doctor may recommend other oral medications, if necessary.

It is very important to keep the skin clean. Daily showers or baths, preferably with an antibacterial soap, is recommended. Phisohex is excellent, but it may be too drying. Bathing will not cause the rash to spread on the skin. The scratch marks on the skin of patients with varicella do not have vesicles, meaning that an individual cannot spread the virus by inoculating it into the skin or by bathing. It is best to prevent scratch marks by trimming a child's nails.

Although acyclovir-a specific antiviral drug that inhibits the growth of VZV-has been approved for use in children, there has been little enthusiasm for it. It must be given within 24 hours after the onset of the rash to be effective. The effect on a person's symptoms is minimal; however, they are statistically significant when compared to the symptoms of a person who has not had the drug. In adolescents and adults who have more severe chickenpox than children, acyclovir may be useful. The drug may be more effective in second cases in a family, where acyclovir can be obtained at the time of the first child's illness, and treatment can be started on the other children as soon as a rash appears. Second cases tend to be more severe than the first case in a family.

What are the complications?

Most cases of varicella are mild, and can be treated by applying ointment to the skin; however, some cases may require antibiotics. Rarely, cases are very severe. If your child develops a skin infection following varicella, us should evaluate it.

The most common complication of varicella is a bacterial infection of the skin. This can occur when the fever rises after several days of illness or redness appears on the skin. The skin also may be warm and tender. In a severe infection, pain may be a prominent symptom. In recent years, streptococcal skin infections have become more frequent, and require prompt attention.

Neurologic complications do occur with varicella. The most common complication occurs 1 in about 4,000 cases, and is characterized by difficulty with balance. Although this is frightening to the child and the parents, it generally gets better by itself with time. Loss of consciousness and convulsions with fever, headache, and vomiting may indicate encephalitis. This complication occurs 1 in about 40,000 cases, but it may be life threatening. In the past, before the warning about aspirin, similar symptoms were seen in Reye's syndrome. In any of these situations, your physician should be contacted.

There are a number of less common complications that include, among others, bleeding disorders, joint involvement, and kidney problems.

How is varicella (or chickenpox) prevented?

Avoiding contact with those individuals who are affected with chickenpox can prevent it; however, this is very difficult. Many children are not even aware that they have been exposed. Protecting children from varicella is cumbersome, as they must be kept from school and other activities.

Immunization is the only practical way to prevent varicella. A live attenuated (weakened) varicella vaccine is recommended for all children who have passed their first birthday and have not had chickenpox. Children under 12 years of age require only a single injection; adolescents and adults are given two injections. The vaccine has few side effects; tenderness or pain at the injection site is the most common. Occasionally, a child may have a few chickenpox lesions on the injection side or over the trunk. The vaccine is effective in preventing or modifying varicella. In persons who have had the vaccine and still developed varicella, their cases have been extremely mild.

There are two concerns about the vaccine: how long immunity will last, and whether zoster will be a greater problem later in life in vaccinated children than in children who actually had chickenpox. There is no reason to suspect that zoster will be a problem since children who have had the vaccine do not seem to get it more frequently, and children with leukemia who were vaccinated had zoster less frequently.

Chickenpox is a much more severe disease in adults than in children. Most children will be immunized during childhood, and it is anticipated that there will be fewer cases of varicella. Therefore, children who are not immunized during childhood will have a decreased chance of contracting chickenpox as an adult. However, children who are not vaccinated will be susceptible adults, and, if infected, may get a severe case of chickenpox. If vaccine immunity should decrease, it is likely that there may be partial immunity, which will modify the severity of chickenpox in an adult who was immunized as a child. At the present time, there is no evidence to suggest that the protection produced by the vaccine will be lost.

In persons who are exposed to varicella, the antiviral drug, acyclovir, may be given. An injection of Varicella-Zoster Immune Globulin (VZIG) is used to protect adults and children who have compromised immune systems (e.g., those receiving high doses of steroids or children with leukemia), if they are exposed to chickenpox. This injection is very expensive (about $500), and it provides protection for only a few weeks. Thus, it is necessary to give it at the time of each exposure. However, many individuals will get chickenpox following an exposure of which they were unaware.

What research is being done?

Efforts continue to find better drugs to treat varicella. In addition, basic research is being conducted to better understand why the virus becomes latent and why it becomes activated to cause zoster. Currently, there is a study, which eventually will have 37,000 participants, to determine whether a stronger varicella vaccine can prevent shingles in people over 60 years of age.

Links to other information

http://www.cdc.gov/vaccines/pubs/vis/downloads/vis-varicella.pdf

References

Brunell, P.A. Varicella-Zoster (Chickenpox) in Rudolph's Pediatrics, 20th ed., Appleton and Lange, Stamford, CT, 1996.

Report of the Committee on Infectious Diseases, American Academy of Pediatrics, Elk Grove Village, IL, 1997.

Copyright 2012 Philip Alfred Brunell, M.D., All Rights Reserved

Varivax Immunization 

Varicella (Chickenpox) Vaccination

 

Varicella (chickenpox) is a highly contagious disease that is very uncomfortable and sometimes serious. The chickenpox vaccine is the best protection against chickenpox. The vaccine is made from weakened varicella virus that produces an immune response in your body that protects you against chickenpox. The chickenpox vaccine was licensed for use in the United States in 1995. Since then, the vaccine has become widely used. Thanks to the chickenpox vaccine, the number of people who get chickenpox each year as well as hospitalizations and deaths from chickenpox have gone down dramatically in the United States.

Vesicoureteral Reflux 

What is Vesicoureteral Reflux?

Vesicoureteral reflux is a common disorder of the urinary system. The urinary system is made up the kidneys, ureters, bladder and urethra. The body has two kidneys that drain urine to the bladder by small tubes called ureters. Urine normally travels in only one direction, i.e from the kidneys to the bladder. Vesicoureteral reflux (VUR) occurs when urine travels backward from the bladder through the ureters to the kidneys. Vesicoureteral reflux without urinary infection by in large is harmless. However, when associated with urinary infection, VUR may cause severe kidney infections (pyelonephritis) which can lead to kidney damage.

What Causes Vesicoureteral Reflux?

There are two types of VUR: primary and secondary. Primary VUR is the most common and is usually caused by an irregular embryological arrangement of the ureteral tube in the bladder early in the development of the fetus before birth. When the ureter enters the bladder, the tunnel for which it travels in the bladder may be too short or have too large of a diameter to allow the ureter to close sufficiently during bladder filling to prevent a backup of urine. This condition may resolve as the child grows with the bladder enlarging and the ureter changes in length. Secondary VUR occurs when there is an associated condition, such as: bladder outlet obstruction, overactive bladder, myelomeningocele, voiding abnormalities and dysfunctional elimination problems.

Who is Susceptible to Vesicoureteral Reflux?

VUR occurs in less than 1% of healthy children. In children with a urinary tract infection (UTI), the incidence is 25 to 50%. One study found that 38% of children with antenatal (before birth) kidney swelling (hydronephrosis) were diagnosed with VUR on subsequent studies after birth. While boys had a higher incidence antenatally, females still make up 85% of the children with VUR overall. Caucasian girls had 10 times the risk of VUR versus African-American girls.

Further studies have shown a higher incidence of VUR (30-40%) in siblings of children who were already diagnosed with VUR. If you have a child with vesicoureteral reflux, it is important to talk with your physician to determine if other siblings should be evaluated for VUR.

How is Vesicoureteral Reflux Diagnosed?

There are two different types of patients who are diagnosed with VUR; 1- children with prenatally detected kidney swelling (hydronephrosis); 2- Children being evaluated for urinary tract infection. Some children are detected before birth when hydronephrosis is discovered via a prenatal screening ultrasound. These children are frequently evaluated after birth with a renal ultrasound and voiding cystourethrogram (VCUG). A VCUG is performed by placing a catheter in the urethra (natural voiding channel) and X-ray visible dye is injected into the bladder allowing X-rays to delineate the flow of the urine.

The second group of children may require an evaluation for VUR after a urinary tract infection. While opinions vary, it is generally accepted that the following children with a UTI should be evaluated for VUR with a renal ultrasound and VCUG: any child less than 5 years of age, a child with a UTI and fever (regardless of age), and any boy with a UTI (unless they are sexually active or have a significant past history of genitourinary problems).

Your healthcare provider may recommend another form of imaging called a radionuclide scan. This procedure allows the provider to continue to monitor the VUR with minimal radiation exposure. A DMSA scan may be ordered to detect scarring of the kidney or an infection in the kidney (pyelonephritis).

The VCUG is important in helping to stage the severity of VUR.

  • Grade I: urine refluxes into the ureter only
  • Grade II: urine refluxes into the ureter and renal pelvis (collecting system of the kidney) without distention of the pelvis.
  • Grade III: urine refluxes into the ureter and renal pelvis with only mild dilatation (hydronephrosis)
  • Grade IV: the child also has moderate hydronephrosis
  • Grade V: The child has severe hydronephrosis and abnormalities of the ureter.

What are the Symptoms of Vesicoureteral Reflux?

Vesicouretral reflux itself is usually asymptomatic and a urinary infection is the presenting picture. Children may present initially with the following signs of a urinary tract infection: fever, malodorous urine, blood in the urine, urinary frequency, pain with urination, bedwetting, protein in the urine, lethargy or gastrointestinal symptoms. Newborns may have nonspecific symptoms such as poor feeding and irritability.

What are the Complications of Vesicoureteral Reflux?

Vesicoureteral Reflux without urinary infection for the most part does not cause injury to the kidneys. However, VUR with infection can result in an infection of the kidney (pyelonephritis) which can result in scarring of the kidney. Fortunately, significant kidney scarring is rare. Significant scarring of the kidneys can result in high blood pressure, renal impairment, renal failure, and complications in pregnancy as an adult. Prophylactic antibiotic treatment to prevent urinary infections in children is begun immediately after diagnosis of VUR to try and decrease the risk for these complications.

How is Vesicoureteral Reflux Treated?

The management and treatment of VUR depends upon many factors and an in depth discussion of VUR and your child should be individualized with your health care provider. Vesicoureteral reflux is frequently initially managed by a primary care provider for lower grades of VUR (1-3) . Higher grades of VUR or complex and complicated cases of VUR are usually jointly managed with a surgical specialist called a Pediatric Urologist.

VUR has a spontaneous resolution rate and is usually managed with prophylactic antibiotics (preventative antibiotic) in hope that with growth of the child there will be concomitant growth of the ureteral tunnel. Should the tunnel grow enough then the VUR may resolve without the need for a surgical procedure. Prophylactic antibiotics are given at very low doses daily to reduce possible side effects. Newborns are usually given Amoxicillin or Keflex (Cephalexin). Children older than 2 months can be given Trimethoprim (Primsol) or Bactrim (trimethoprim-sulphamethoxazole). Waiting 12-18 months is the usual time to wait between follow up X-rays so that a child has time to grow.

Spontaneous resolution of VUR has one major caveat. It is impossible to predict when or if the VUR will improve or resolve. Some children with high grade VUR can have resolution in a short time frame and some children with low grade VUR will never have spontaneous resolution. Fortunately most children with Grades I-III VUR will have improvement or resolve their urinary reflux by the time they are 2 to 5 years of age. Children with Grades IV & V urinary reflux have a lower resolution rate of VUR. These children too can be followed but frequently require a surgical procedure to bring closure to the VUR

When is Surgery recommended for VUR?

If a child has a breakthrough infection (urinary tract infection on the preventative antibiotic) the conservative plan of monitoring the reflux must be abandoned and a surgical procedure is necessary to prevent further potential infections of injuring the kidneys. In general infants are at greater risk for renal injury than older children.

Surgery is also an option if a child has had persistent VUR after years of follow-up with little or no improvement. However, if no infections have occurred surgery is not mandatory. In the older child, many families frequently select surgery to bring closure to the problem, allow the discontinuance of antibiotics, and avoid any further potential side effects of VUR.

What type of Surgery is available for VUR

Surgical treatment is offered in 2 ways; open ureteral reimplantaion surgery and minimally invasive endoscopic deflux injections. The gold standard is open surgery that involves rearranging the ureters in the bladder in a non-refluxing natural position. Open surgery is > 95% successful and usually does not require a repeat VCUG x-ray after surgery. The surgical procedure is performed through a 4cm low abdominal incision, just above the pubic bone, below the underpants line. The child routinely only spends the night of surgery in the hospital and generally gets back to normal activity in 3-5 days (4-6 years old). Infants and toddlers rarely need surgery but, if required, are frequently back to themselves within 1-2 days.

Minimally invasive deflux injection involves performing a telescopic exam (endoscopic) of the bladder through the urethra as an outpatient procedure. This access allows direct injection of a dextramoner bead paste (sugar beads) under the ureter that improves or cures VUR in about 80% of the time. Children are back to normal activity usually the same day. A VCUG x-ray is necessary to assess the treatment after the procedure.

About the Author

Peter D. Furness III, M.D., FAAP, FACS:

Dr. Furness is Associate Professor of Surgery and Pediatrics at the University of Colorado Health Sciences Center and the Associate Chief of Pediatric Urology at the Children's Hospital in Denver, Colorado.

Copyright 2012 Peter D. Furness III, M.D., All Rights Reserved

Wheezing-Infant 

What is bronchiolitis?

Bronchiolitis is an infectious disease of the lower respiratory tract caused by a virus. It occurs in young children, usually within the first two years of life. Signs of an upper respiratory tract infection (a "cold"), as well as signs of a lower respiratory tract infection, characterized by wheezing, commonly accompany bronchiolitis. For this reason, bronchiolitis has sometimes been called "asthmatic bronchitis" or "wheezy bronchitis."

What causes bronchiolitis?

Respiratory viruses cause bronchiolitis. Many common viruses, especially those that occur in the winter and spring, may cause bronchiolitis in young children. The most frequent cause of bronchiolitis is Respiratory Syncytial Virus (RSV). RSV causes outbreaks of bronchiolitis each year throughout most of the world. In North America, RSV causes regular outbreaks, lasting two to three months, which begin in the late fall or winter, and varying somewhat depending on the area of the country.

In the warmer parts of the United States, the annual outbreaks tend to start slightly earlier than in the colder, more northern climates, which usually experience the beginning of an outbreak in November or December, with peak activity in January through March.

Parainfluenza viruses, the second most common cause of bronchiolitis, also tend to occur in outbreaks, but at different seasons. Parainfluenza type 1 virus produces outbreaks in the fall every other year in the odd numbered years, while parainfluenza type 3 virus-which is the most common of the parainfluenza viruses to cause bronchiolitis-is prominent in the spring, but may last into the summer and fall.

Occasionally, influenza also may cause bronchiolitis in young children during its winter to spring outbreaks. A number of other common viruses that cause respiratory infections, especially colds, may sometimes cause bronchiolitis in the young child.

These respiratory viruses that cause the majority of bronchiolitis cases have two common characteristics: first, they are widespread viruses, which infect essentially all of us early in life and, sometimes, repeatedly throughout life. Second, these viruses each cause multiple types of respiratory illness, including upper respiratory tract infections, such as colds and ear infections, as well as infections of the lower respiratory tract, such as pneumonia, bronchitis, and laryngitis.

Who gets bronchiolitis?

Bronchiolitis is a common illness occurring in normal children during their first or second year of life, most frequently between 2 and 10 months of age. Younger infants and those who were born prematurely tend to have more severe illness. Children who are in day care during their first year of life are frequently exposed to respiratory viruses from their close contact with many other young children; therefore, they often have many respiratory infections during their first year.

RSV spreads easily among groups of young children, and, in some, it may appear as bronchiolitis, while, in others, it may appear only as an upper respiratory tract infection. Children who are infected with RSV or with another of the bronchiolitis viruses may even become infected again in their second year of life with the same virus.

How do respiratory viruses cause disease?

The respiratory viruses that cause bronchiolitis are acquired from close contact with other individuals who are infected with the virus. Sometimes, these people show signs of illness, and, at other times, the infection may be very mild with few or no symptoms. The viruses, nevertheless, are still present in the secretions, and they are infectious when they enter the respiratory tract of a child via the eyes, nose, or, occasionally, the mouth.

The spread of these viruses from individuals who are infected usually occurs from the small particles of respiratory mucus that are released from their sneezes or from touching their secretions that may be on used tissues or on other objects. When children rub their eyes or nose with hands contaminated by these secretions, the virus may enter the respiratory tract. In the lining of the nose and the upper respiratory tract, the virus multiplies and spreads down to the lower airways and lungs.

During the initial few days, when the virus is multiplying, the child usually does not show any symptoms. Subsequently, however, the virus causes damage to the cells lining the respiratory tract, resulting in an excess of cellular material and secretions, which tend to obstruct the usual flow of air. Young infants are particularly vulnerable to this "plugging effect" because the diameter of their airways is small. The obstruction to their breathing tends to be most pronounced when they are exhaling, as the diameter of the airway is reduced more during the increased pressure needed for breathing out. A wheezy sound may be heard as the child forces the air through these areas of partial obstruction.

What are the common findings in a child with bronchiolitis?

Initially, bronchiolitis appears as an upper respiratory tract infection (i.e., a cold), with nasal stuffiness, a sore throat, and a slight cough. Fever, which is usually mild, but, occasionally, may be high, is frequent during these initial few days of the infection. Involvement of the lower respiratory tract usually appears two to three days later, and is characterized by the child developing a more prominent cough and the general signs of a worsening infection, such as irritability, decreased activity, and poor appetite. If the infection progresses further, the child may seem to have labored, fast, or wheezy breathing.

The child may grunt with the effort of each breath, and the child's chest muscles may retract between the ribs. Only the more severely ill children have labored breathing; most appear to have a bad cold with wheezy or croupy breathing. Whenever parents are concerned about a change in the sound, effort, or pattern of their child's breathing, they should call their physician.

For most infants, bronchiolitis lasts three to seven days. Although most show improvement within three to four days, a more prolonged cough and a gradual recovery period of one to two weeks or longer is common.

How is bronchiolitis diagnosed?

Bronchiolitis is diagnosed most frequently on its characteristic appearance in a child of the right age, especially when it occurs during the RSV season. For instance, a child within the first two years of life who develops a cold and wheezing during the winter months of peak RSV activity in a community is most likely to have bronchiolitis. Several other diseases, however, may appear similar to bronchiolitis. Asthma cannot always be easily differentiated from bronchiolitis, particularly if the child is having the first episode of wheezing. Furthermore, the two diseases may be combined since a significant proportion of wheezing episodes occurring in allergic or asthmatic children are initiated by a virus.

Young children who have repeated episodes of bronchiolitis or wheezing are more likely to have asthma or an allergic background. Occasionally, the repetitive episodes of wheezing may be due to gastric reflux, a condition resulting from the tendency of some young infants to regurgitate stomach contents in the respiratory tract after feeding. Rarely, a child swallowing or choking on something that lodges in the respiratory tract and causes an obstruction of the airway will mimic bronchiolitis.

The child's physician may sometimes wish to get a chest x-ray or a measurement of the oxygen level in the blood to help confirm the diagnosis or severity of bronchiolitis. Secretions from the nose and throat may be tested for the presence of the respiratory virus causing bronchiolitis.

How is bronchiolitis treated?

The vast majority of children with bronchiolitis do well with no more than the usual care required for an infant with a bad cold. If fever is present, the usual medications to control it, such as acetaminophen and ibuprofen, should be used. The child should be encouraged to take an adequate amount of fluids. Solid food is less important. Alleviating the nasal stuffiness may help the child in taking fluids and in sleeping. Saline nose drops or other mild drops and suctioning, as advised by your physician, may help. Sometimes, a cold water humidifier in the child's room may aid the nasal stuffiness caused by thick, dried secretions.

In the more severely ill child with the signs of lethargy and difficulty in breathing, hospitalization may be required to administer additional oxygen or fluids if the child is dehydrated.

Since a virus causes bronchiolitis, the antibiotics used for bacterial infections, such as strep throats and ear infections, are of no benefit. Viruses do not respond to such antibiotics. Currently, only one antiviral drug is approved for use for bronchiolitis caused by RSV. This drug, ribavirin, can be administered in a hospital by an aerosol into the child's nose and mouth. Some children may be treated with bronchodilator drugs, which are aimed at reducing the airway obstruction, which occurs in some children, mainly those with allergies. Many infants with bronchiolitis, however, do not respond or have a variable response to bronchodilators. In most young infants, the major cause of the airway obstruction is the inflammation caused by the virus, rather than an abnormal reaction of the child's airways.

Corticosteroids have been evaluated in the treatment of bronchiolitis in an attempt to reduce the inflammation. However, carefully controlled studies have shown that they have no benefit in treating bronchiolitis, and the American Academy of Pediatrics does not advise the use of these drugs for bronchiolitis.

What are the complications?

Many studies of large numbers of children with bronchiolitis have shown that those infants who were most likely to have a complicated or severe case are those with underlying diseases, especially heart or lung disease. Additionally, those children who were born prematurely and those infants in the first few weeks of life are more at risk for prolonged or complicated illnesses. Infants who have the most severe illness may have such difficulty in breathing that they require assistance in their breathing with mechanical ventilation. Very young infants may have the complication of suddenly stopping breathing for prolonged periods, called apnea. Such complications are generally rare, and the death rate from bronchiolitis is very low.

The most common complication of bronchiolitis for children hospitalized with a more severe infection is recurrent episodes of wheezing within the first two years after discharge from the hospital. However, over the years, the frequency of these continued episodes of wheezing tends to decrease markedly. Most studies show that children who have had milder bronchiolitis, not requiring hospitalization, do not have this same degree of risk for recurrent episodes of wheezing.

How can bronchiolitis be prevented?

For most children, currently, there is not an effective way to prevent bronchiolitis. Since several very common respiratory viruses, especially RSV, cause bronchiolitis, contact with others who are infected is frequent and often is not recognized. Within the child's family, spread of RSV and other respiratory viruses may be lessened by good hand-washing of the parents and other family members and by reducing an infant's contact with secretions from an infected person (e.g., contaminated used tissues, shared toys, utensils, and other objects). Isolation of the child and interference with the child's usual play and activities are usually of little value and should not be attempted for most normal children.

For those few infants who are at a very high risk for complicated or severe infections from RSV, namely those who were born with significant prematurity and/or underlying lung disease, an additional means of prevention is available. A product containing a specific antibody to RSV has been approved for monthly administration to help prevent RSV infection in these high-risk children. This form of antibody against RSV has the advantage of being able to be administered once a month by intramuscular injection. In large, controlled studies, this product has been shown to decrease hospitalization from RSV infections in these high-risk infants.

What research is being done?

Since these respiratory viruses, especially RSV, produce so much illness in young children and are a major cause of medical visits and costs, much research currently is underway. This research is focused on developing effective vaccines to prevent RSV and to prevent infection with some of the other respiratory viruses, such as the parainfluenza and influenza viruses. Although a number of vaccines for the prevention of RSV have been tested in clinical trials, they have yet to be approved for general use. A number of vaccines, which contain live, but weakened, or inactive parts of the virus, appear promising and are being tested further. In addition, a number of antiviral drugs are being developed and tested for both preventing and treating the viruses that cause bronchiolitis.

References

Gruber WC: Bronchiolitis: In Long SS, Pickering LK, Prober CG, eds. Principles and Practices of Pediatric Infectious Diseases, 2nd edition, 1997: 246.

* Hall CB, Hall WJ: Bronchiolitis. In: Mandell GL, Benett JE, Dolin R, eds. Principles and Practice of Infectious Diseases, Fifth Edition. New York, NY: Churchill Livingstone Inc. 1999 (in press).

* Hall CB, Hall WJ: Bronchiolitis. In: Hoekelman RA, Friedman SB, Nelson NM, Seidel HM, Weitzman ML ed. Primary Pediatric Care. Fourth Edition. St. Louis, MO: C.V. Mosby 1999 (in press).

* These two references are also currently in the published editions:

Hall CB, Hall WJ: Bronchiolitis. In: Mandell GL, Benett JE, Dolin R, eds. Principles and Practice of Infectious Diseases, Fourth Edition. New York, NY: Churchill Livingstone Inc. 1994:612-614.

Hall CB, Hall WJ: Bronchiolitis. In: Hoekelman RA, Friedman SB, Nelson NM, Seidel HM, Weitzman ML ed. Primary Pediatric Care. Third Edition. St. Louis, MO: C.V. Mosby 1997:1213-1216.

About the Author

Dr. Hall is board certified in pediatrics and the subspecialty of pediatric infectious diseases. She is also a Professor of Pediatrics and Medicine at the University of Rochester Medical Center.

She has served on a number of national and government committees concerning infectious diseases and immunizations. Her major areas of medical research concern viral diseases of children, especially respiratory viruses, as well as other viral infections, such as HHV6 and HHV7, immunizations and epidemiology.

Reviewed 11/3/2010

Copyright 2012 Caroline B. Hall M.D., All Rights Reserved

Wilson Disease 

What is Wilson disease?

Wilson disease (technical name: hepatolenticular degeneration) is an inherited disorder of copper handling in the liver. Copper is not packaged properly into its carrier protein in the liver, and it is not excreted efficiently into the bile. Consequently, copper accumulates in liver cells. When too much copper is in liver cells, it spills into the blood stream and is deposited in other organs, mainly the brain and the eyes.

Where does the copper come from?

Copper is found in many foods. Trace amounts are essential for good health, but too much copper can be toxic. Most people excrete the extra copper that they do not need, but persons with Wilson disease cannot do this adequately.

If it is a copper disorder, why is it called Wilson disease?

Wilson disease is named after an eminent neurologist, Kinnear Wilson, who first described the disease in 1912. Although born in the United States, he worked mainly in England. He described progressive neurologic disease in children in the same family, although he observed that some children also had liver disease. The ring of copper deposited in the eye, near the iris, called the Kayser-Fleischer ring, was described only a few years earlier. Copper's role in damaging the liver was confirmed in the late 1940s. The genetic pattern of inheritance (called autosomal recessive) was determined in 1960. The gene that is abnormal in Wilson disease was identified in 1993. The technical name for this gene is ATP7B, but it also is called WND. The gene is located on chromosome 13.

What kind of gene is abnormal in Wilson disease?

The gene that is abnormal in Wilson disease (ATP7B) is the blueprint for a protein found mainly in liver cells but also in some brain cells and in certain parts of the kidney. In liver cells, this protein uses energy stored in the cell to move copper out of the cell, which is why the protein is called a "copper-transporter." If the gene is abnormal, then the protein is not put together correctly and does not work.

What is known about the gene?

The gene is large, with over 80,000 base pairs organized in 22 coding units. By looking at the patterns in the gene, scientists can predict the features of the protein it makes. The protein has a tail of 6 units to bind copper and a zone to make a hole, or "pore" in a membrane, through which copper moves; it also has the mechanism for capturing cellular energy to fuel the whole process of transporting copper. This gene is complicated. Thus far, approximately 200 different mutations (or abnormal changes) in this gene have been identified.

How is Wilson disease inherited?

Autosomal recessive inheritance means that a person must have 2 abnormal versions of the WND gene to get the disease. The change that makes a gene abnormal is called a "mutation." In Wilson disease, some people have 2 copies of the same mutation, but many people with Wilson disease have 1 copy of 2 different mutations. Either way, having 2 abnormal WND genes means a person has Wilson disease. If a person has only 1 abnormal gene, then that person is a carrier of the disease but does not get the disease. The parents of a person with Wilson disease are obliged to be carriers.

Does Wilson disease occur more often in some populations than in others?

Wilson disease is considered to be rare. It occurs worldwide at the rate of 1 per 30,000 population, meaning that the carrier rate is approximately 1 per 90 population, which is a relatively high rate compared to many inherited diseases. Wilson disease is found in all racial groups. In a few places, the rate of Wilson disease is unusually high; for example, in Sardinia off the coast of Italy, the disease rate is approximately 1 per 10,000 population.

What kind of disease occurs with Wilson disease?

Younger patients typically have signs of liver disease, and the liver disease can be highly variable. Many adult patients primarily have neurologic disease, usually with problems relating to movement. These patients usually have signs of liver damage. Some children and teenagers mainly develop neurologic disease. A minority of patients has only psychiatric symptoms. Although copper can be deposited in the eye, it does not disturb eyesight.

When does the disease begin?

Since Wilson disease is genetic, it is with a person from birth. Most people remain asymptomatic for years and do not know that they have Wilson disease. Children as young as 3 years can have severe liver disease from Wilson disease. Some adults develop only neurologic problems due to Wilson disease when they are in their fifth decade. In general, liver problems from Wilson disease become evident in people aged 5 through 40 years. Those persons with neurologic problems from Wilson disease become symptomatic when they are aged 10 through 55 years.

What kind of liver disease occurs with Wilson disease?

One of the complicated aspects about Wilson disease is that it leads to many different types of liver disease some severe, some not. At an early stage, Wilson disease may cause slight enlargement of the liver, possibly with extra fat in the hepatocytes. At a later stage, the liver becomes scarred or cirrhotic, often without any symptoms of liver disease. Patients with clinically evident liver disease can have an acute illness similar to viral hepatitis or resembling an autoimmune liver injury. Exceptionally, sudden and rapidly progressive liver failure can occur. This usually is accompanied by an abrupt and severe anemia, poor clotting function, changes in mental function (eg, stupor, coma), and renal failure.

What neurologic problems occur with Wilson disease?

Symptoms of Wilson disease affecting the nervous system are extremely variable, but with 2 main patterns. Movement disorders include tremors, involuntary movements, poor coordination, and loss of fine movements. Many patients actually have decreased movement; they get a stiffness of movement, mincing pattern to their gait, and loss of relaxed and spontaneous facial expression. They also may have garbled speech, drooling, and difficulty swallowing. In teenagers, excessive clumsiness, unexplained deterioration in school performance, and change in handwriting from large round letters to small jagged letters warrant consideration of Wilson disease. Personality or mood changes or depression may accompany these symptoms. Seizures are uncommon with Wilson disease. Intellect is normal.

Can Wilson disease affect other organs?

Copper can accumulate in the heart muscle and result in an abnormal heart rhythm. Copper overload in the pancreas can cause pancreatitis. Copper can cause red blood cells to break down (hemolytic anemia), leading to some jaundice. Gallstones also may result. Copper can interfere with various endocrine organs. In particular, women with Wilson disease may have difficulty becoming pregnant or have repeated miscarriages.

How is Wilson disease diagnosed?

Relatively simple blood and urine tests may be enough to determine whether or not a person has Wilson disease. The concentrations of copper and ceruloplasmin in the blood are low. The amount of copper excreted in the urine over 24 hours is higher than normal. Blood tests to determine liver function are performed. A computed tomography (CT) scan or magnetic resonance imaging (MRI) of the brain may be performed. The eyes should be examined carefully with a slit lamp to see if early Kayser-Fleischer rings are present. More complicated tests include sampling a small amount of the liver by a liver biopsy to examine the liver under the microscope and to measure the actual amount of copper in the liver tissue. Genetic testing can be performed with a blood sample to determine gene patterns that go with Wilson disease or to detect specific mutations.

Can Wilson disease be treated?

Wilson disease was one of the first liver diseases for which effective, lifesaving treatment was found. Currently, several possible treatments are available for Wilson disease. These treatments are the chelators, penicillamine and trientine, and the metallothionein-inducer, zinc. Other treatments are essentially experimental.

What is penicillamine and what does it do?

In use since 1956, penicillamine is a treatment for Wilson disease. It binds copper and increases the excretion of copper in the urine. This treatment may increase the amount of the safe storage protein for copper, called metallothionein, in liver cells. Penicillamine has other unrelated actions that include inhibiting the immune response and interfering with the formation of collagen (a protein in fibrous tissues). Although originally identified as a breakdown product of the antibiotic penicillin, this drug currently is manufactured by itself, without involving penicillin. Penicillamine may deplete vitamin B6 (pyridoxine) in the body; therefore, extra vitamin B6 is taken with it.

Is penicillamine a good treatment for Wilson disease?

Penicillamine has been a lifesaving treatment for Wilson disease since it first was discovered, and many specialists still regard it as the first-line treatment for Wilson disease. Although this treatment works for most people, it can have adverse effects, including fever and rash soon after starting the drug, damage to the kidneys causing protein to leak into the urine, problems with the bone marrow so that blood counts drop dangerously low, and complicated damage to numerous organs at the same time (ie, "lupus-like" drug reaction). Some patients who mainly have neurologic problems with Wilson disease get worse neurologically soon after starting penicillamine; this problem is usually, though not always, transient. A patient having any of these adverse effects may need to change to another treatment. The blood count and urinalysis have to be monitored whenever penicillamine is used. Some specialists believe that penicillamine is flawed as a treatment because of the potential for these adverse effects and advocate using other treatments.

What are the other treatments?

Trientine is a very different chemical from penicillamine, but it is also capable of binding copper and of increasing the amount of copper excreted in the urine. This treatment does not have the risk for adverse effects like penicillamine. When trientine is substituted for penicillamine, the adverse effects of penicillamine usually stop. Anemia may develop because this drug also can bind iron, and, rarely, it may cause nausea because of stomach irritation. Trientine is not quite as strong a binder of copper as penicillamine, but, in day-to-day experience, this difference is not important. Zinc, taken in very high doses, removes copper from the body by increasing the amount of metallothionein in the cells lining the intestinal tract. Copper is bound within these cells and lost in the feces as these cells turn over every 3-5 days. Zinc is surprisingly strong and quite specific for eliminating copper from the body. This treatment has few adverse effects, but it can cause stomach irritation (gastritis).

Are these the only treatments?

A few other copper-binding agents have been tried and largely discarded from general use because they were unpleasant to take (eg, daily injections) or had unacceptable adverse effects. Some agents are still under development (eg, tetrathiomolybdate), which means that their effectiveness and adverse effects are not yet fully known. The safety and effectiveness of combining treatments also is not fully determined.

Is treatment lifelong or can it be stopped at some point?

Most people can be treated satisfactorily with the currently available treatments (ie, penicillamine, trientine, zinc). Any of these treatments must be used daily for life. If a treatment has to be stopped because it is causing an adverse effect, another treatment must be substituted. Stopping successful treatment altogether inevitably leads to major deterioration. If treatment is started again, it may not work. In most cases, liver transplant then becomes the only effective treatment available.

How should treatment be monitored?

Most patients have follow-up visits twice a year to ensure that they are generally healthy. Their physician conducts a physical examination and monitors for adverse effects of drug treatment. Blood counts, liver tests, and urinalysis are performed, and the level of copper and ceruloplasmin in the blood is checked. The amount of copper excreted in the urine in 24 hours is checked approximately once a year to ensure that treatment is effective. A follow-up slit lamp examination of the eyes may be performed to see whether the Kayser-Fleischer rings disappear.

Is a special diet necessary?

Especially in the first year of treatment, foods that have very high concentrations of copper should be avoided. These foods are shellfish, nuts, chocolate, mushrooms, and organ meats (eg, brains, liver). Since the latter do not play an important role in the average North American diet, shellfish, nuts, and chocolate are the foods to target. Advice from a dietitian may be helpful and is mandatory for practicing vegetarians. Well water or water brought into the household through copper pipes should be checked for copper content. In general, municipal water supplies do not have to be checked. A water purifying system may be advisable if the copper content of the water is high.

Are there any other treatment strategies?

Copper may damage liver cells and other cells in the body by causing the formation of activated chemical intermediates. Antioxidants, such as vitamin E, may neutralize these chemicals. High doses of vitamin E may be used in addition to a drug to bind copper.

What about liver transplantation for Wilson disease?

Most patients with Wilson disease can be treated successfully just with medication, and liver transplant is not necessary. A few patients who do not respond to treatment require a liver transplant. The rare patient whose first sign of Wilson disease is acute liver failure requires immediate liver transplantation. Some patients on treatment who have very severe neurologic disease improve if they undergo a liver transplant, but, presently, the use of liver transplantation to treat the neurologic disease remains controversial. Patients who fail to comply with medical therapy may develop overwhelming liver damage, which can be treated adequately only by a liver transplant.

Is it okay to drink alcohol if a person has Wilson disease?

Alcohol can cause damage to liver cells that is similar in some ways to the kind of damage caused by copper; therefore, drinking alcohol is not advised in those persons who have Wilson disease.

If a person has Wilson disease and gets pregnant, what should that person do about medication during the pregnancy?

Although a small risk exists that the medication for Wilson disease will damage the baby, the greatest risk to the baby occurs if the disease is not well controlled during pregnancy. Therefore, taking the medication during pregnancy is important for those women with Wilson disease. Management of the pregnancy by a high-risk obstetrics team may be advisable depending on the severity of the underlying liver disease.

If a person has Wilson disease, will that person's children get it?

Since Wilson disease is inherited by an autosomal recessive pattern, a person must have 2 abnormal genes to get Wilson disease. This means that if a person with abnormal genes marries a person with normal genes, the children inherit 1 abnormal gene and 1 of the mate's normal genes. The children are carriers of the disease, but they do not have Wilson disease. If a person with normal genes marries a person who is a carrier of Wilson disease (ie, has 1 abnormal gene), then a 50-50 chance exists with each pregnancy that the child will have Wilson disease.

Since it is a genetic disease, what about family studies?

As soon as 1 child in the family is diagnosed with Wilson disease, all brothers and sisters should be tested. Each child has a 1 in 4 chance of being affected with the disease. Initial studies can be limited to a physical examination; blood tests of liver function; the concentration of copper and its carrier protein, ceruloplasmin, in the serum; and a measurement of the amount of copper excreted in the urine over a 24-hour period. If these studies are suggestive of Wilson disease, further studies may be required. Such studies may include a slit lamp examination of the eyes for Kayser-Fleischer rings, a liver biopsy, and CT scan or MRI of the brain. Since patients who begin treatment before they have any symptoms have the best prognosis, performing these studies is important. If the tests are inconclusive, they should be repeated several times, at 6- to 12-month intervals. If genetic testing is available, an excellent alternate approach is to use genetic testing to confirm who is affected and who is not. The genetic findings in the child with Wilson disease and parents can be used to guide the studies in the other children. Although a genetic approach provides the best data, because so many different mutations exist, it may be difficult to identify which mutation(s) are present in an individual family.

What research is being done?

Research is aimed at understanding as much as possible about the protein that is coded for by the ATP7B gene. Research is ongoing to identify as many mutations of the ATP7B gene as possible and to understand why Wilson disease is so variable as a clinical disease. Research also is focused on learning exactly how copper damages the liver and other organs so that even safer and more effective treatments for Wilson disease can be found. Because other inherited diseases involving copper overload occur, some researchers are studying the basis of those diseases.

Guide to technical words

Hepatolenticular degeneration: The scientific name for Wilson disease, without using the name of the physician who discovered it, meaning that the main damage is to the liver and to the lenticular area of the brain Ceruloplasmin: The protein in the blood that carries over 95% of the copper in the blood stream Metallothionein: A storage protein for copper and other metals inside of cells Chelator: Any chemical that binds a metal such as copper Mutation: A change in a gene leading to the abnormal function of the protein for which the gene codes Kayser-Fleischer ring: Deposit of copper in the eye, close to the iris; characteristic of Wilson disease but also found in other conditions with copper overload

Links

http://www.ninds.nih.gov/health_and_medical /disorders/wilsons_doc.htm http://www.medgen.med.ualberta.ca/database.html

References

Sass-Kortsak A. Wilson's disease. A treatable liver disease in children. Pediatr Clin North Am. 1975;22:963-984. Scheinberg IH, Sternlieb I. Wilson's disease. Philadelphia: WB Saunders; 1984. Walshe JM. Wilson's disease presenting with features of hepatic dysfunction: a clinical analysis of eighty-seven patients. Q J Med. 1989;70:253-263. Danks DM. Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill; 1995: 4125-4158. Roberts EA, Cox DW. Wilson disease. Baillieres Clin Gastroenterol. 1998;12:237-256. Sanchez-Albisua I, Garde T, Hierro L, Camarena C, Frauca E, de la Vega A, et al. A high index of suspicion: the key to an early diagnosis of Wilson's disease in childhood. J Pediatr Gastroenterol Nutr. 1999;28:186-190. Wilson DC, Phillips MJ, Cox DW, Roberts EA. Severe hepatic Wilson's disease in preschool-aged children. J Pediatr. 2000;137:719-722. Brewer GJ. Practical recommendations and new therapies for Wilson's disease. Drugs. 1995;50:240-249. Sternlieb I. Wilson's disease and pregnancy. Hepatology. 2000;31:531-532.

About the Author

Dr. Roberts obtained her medical degree from the Johns Hopkins University School of Medicine and trained in hepatology at The Royal Free Hospital under Professor Dame Sheila Sherlock. She is currently professor of paediatrics, medicine, and pharmacology at the University of Toronto and a hepatologist at the Hospital for Sick Children.

Copyright 2012 Eve A. Roberts, M.D., All Rights Reserved