Medical and Health Concerns in Children
by George T. Capone, M.D.
Health maintenance is the active pursual of optimal well-being in a person. Routine health services, such as well child care, accident prevention and immunizations are of critical importance for any child and must be part of a comprehensive health maintenance program for the child with Down syndrome. Because congenital abnormalities of various organ-systems and certain medical conditions are more often observed in persons with Down syndrome, specific examinations and screening tests are necessary so that potential medical problems are identified and treated appropriately. Working with your child's pediatrician or family doctor (who will provide routine health care), we will provide focused medical evaluations and screenings which are appropriate for your child. Ongoing neurodevelopmental assessment is also provided so that developmental progress is documented accurately. We make every effort to work in a coordinated fashion with your child's doctors and other health professionals to provide your child with a comprehensive health maintenance program.
The remainder of this section will focus on specific medical conditions which could impact on your child's health. It is not exhaustive and does not cover all possible health- related problems which may be seen in children with Down syndrome. It is important to remember that no individual with Down syndrome will experience all or even most of these medical problems.
Due to the increased frequency of specific congenital anatomic anomalies in infants with Down syndrome, there are a number of potential medical problems which require immediate attention during the newborn period. Some of these conditions may be serious and need immediate correction, whereas others may become apparent during the first few weeks of life.
Heart: Congenital heart disease is an important concern and may be seen in up to 50% of infants born with Down syndrome. The most commonly seen defect, is a hole in the wall of the heart (atrioventricular canal, ventricular septal defect or atrial septal defect) which allows well oxygenated blood from the left side of the heart to mix with poorly oxygenated blood from the right side. Over time, differences in oxygenation and pressure may result in changes to the heart muscle itself or in circulation to the lungs. Because fetal circulation patterns persist during the newborn period, clinical manifestations of significant congenital heart disease may not be apparent in the first few days or even weeks of life. Signs of serious heart disease may include: difficulty feeding or breathing, rapid respirations, fatigue, increased frequency of respiratory infections, and heart failure. Therefore, a thorough physical examination, electrocardiogram, and consultation with a pediatric cardiologist are mandatory in all newborns with Down syndrome regardless of the presence of clinical symptoms. Most cases of congenital heart disease can be corrected with surgery if necessary.
Gastrointestinal Tract: Malformations of the gastrointestinal (GI) tract are another important concern and may be seen in up to 12% of infants with Down syndrome. Narrowing or blockage of the intestinal tract (duodenal atresia/stenosis, pyloric stenosis) or problems resulting from poor intestinal function (Hirschsprung's disease) may be seen. Certain GI problems may cause severe vomiting or constipation and interfere with the absorption of food nutrients and fluids, which could result in undernutrition or dehydration. Serious GI tract malformations may be life-threatening. Evaluation of GI function by a pediatric gastroenterologist may be necessary if physical signs or symptoms are present.
Eyes: Clouding of the lens of the eyes (cataract) is occasionally seen in 1% to 2% of newborns with Down syndrome. If uncorrected, this condition can result in visual loss. Evaluation by a pediatric ophthalmologist is necessary if cataracts are detected.
To maintain surveillance for medical problems which may develop or become apparent during infancy or early childhood, we like to evaluate children every 6 months during the first 2 years of life. After 2 years of age, yearly medical evaluation will usually be sufficient. These visits will include a physical examination, neurodevelopmental evaluation and preventive medical screening.
Eyes: Nearsightedness, farsightedness, crossing (strabismus), jerky eye movements (nystagmus), and cataracts are all more common in children with Down syndrome and may lead to visual impairment if not corrected. Therefore, evaluation by an ophthalmologist is recommended by 1 year of age or sooner, if specific concerns arise.
Ears: Recurrent or chronic middle ear infections or fluid accumulation in the middle ear are also more common. If not detected and treated properly, such conditions may result in speech and language development. Therefore, tympanometry to assess middle ear function is performed by an audiologist at 6 months of age and repeated every 6 to 12 months throughout the early childhood years. Hearing is also assessed as part of this evaluation. Because middle ear infections may be difficult to diagnose and treat in children with Down syndrome, it is often necessary for them to be seen by a pediatric ear, nose, and throat (ENT) physician.
Thyroid Gland: Problems with the thyroid gland may occur in up to 50% of persons with Down syndrome sometime during their life. This gland produces a hormone which is important in controlling the growth and development of virtually every organ in the body as well as regulating overall metabolic activity. The most common thyroid disorder seen in Down syndrome is underactive thyroid (hypothyroidism). This condition may be present at birth or can develop at any time during life. There is an increased tendency for thyroid abnormalities to develop as children get older. Hypothyroidism can lead to slower growth and development in children. For this reason, thyroid screening tests are done on all newborn infants, along with the phenylketonuria test, before they go home from the hospital. The results of the test are then reported to the child's pediatrician. It is important for parents to remind their pediatrician to check the results of the newborn thyroid screening tests. Low or absent thyroid function is easily corrected by replacement of thyroid hormone, but replacement therapy needs to be carried out in conjunction with a pediatric endocrinologist.
Leukemia: Acute leukemia is also more common in children with Down syndrome. Estimates of the relative risk indicate a 10- to 20-fold increase in the likelihood of developing leukemia up to 15 years of age. The term leukemia refers to an overproduction of abnormal blood cells which are formed in the bone marrow. Because there are many different types of blood cells, leukemia may be seen in a variety of forms. In older children, the symptoms of leukemia may include: easy bruising or bleeding, bone pain, and enlarged liver or spleen. A simple screening test involves performing a count of the various cell types present in the blood.
Musculoskeletal Conditions: Musculoskeletal problems may occur in many different parts of the body. Underdevelopment of facial bones, ribs, hips, and pelvis is not uncommon. There is also a tendency for the ligaments which hold bones in place to be loose, allowing for increased joint mobility that can sometimes result in instability or dislocation. A potentially serious problem involves instability of the bones in the neck. The first and second neck bones (C-1 and C-2) may show varying degrees of instability in up to 20% of persons with Down syndrome. In the majority of persons, no symptoms are in evidence and the degree of instability is small (less than 5mm), so that no special precautions need be taken. In a small minority, however, the dislocation is greater (more than 8mm) and symptoms resulting from pressure on the spinal cord may be present. Symptoms may include: neck pain or crooked neck, weakness in the lower extremities, and increased clumsiness or change in gait pattern. Changes in bowel or bladder control may also be seen. In order to detect the presence of C-1 and C-2 dislocation and prevent the symptoms associated with pressure on the spinal cord, neck x-rays are done on all children beginning at 3 years of age and repeated at 12 and 18 years. C-1 and C-2 instability may require some restriction in physical activities which place undue stress and strain upon the head and neck. Certain surgical procedures requiring general anesthesia (placement of ear tubes, removal of tonsils, hernia repair) should be approached cautiously in children with C-1 and C-2 dislocation. Significant C-1 and C-2 dislocation, especially if associated with neurologic symptoms, may require surgical correction. This would need to be performed by an orthopedic surgeon or a neurosurgeon experienced with this condition.
Dental Conditions: Dental problems are common. Teeth may have an unusual appearance or erupt out of sequence. A high, arched narrow palate can cause crowding of the teeth. This can lead to poor tooth alignment and malocclusion. There is also a tendency for gum disease (gingivitis) to develop, which makes good oral hygiene especially important. Regular tooth brushing (at least twice daily) should be practiced throughout childhood. Dental evaluations are usually started by 3 years of age and repeated yearly or as necessary.
Growth: Physical growth is affected in all children with Down syndrome. There is considerable variation in both height and weight among individual children. Variations in height are determined by genetic, hormonal, and nutritional factors, as well as the presence of congenital heart disease, hypothyroidism, or other serious medical illness. Your child's height and weight will be plotted on a Down syndrome growth chart at each pediatric visit to the clinic in order to accurately assess growth. The expected height of adult males with Down syndrome is 4'8" to 5'5". For females, the expected adult height is 4'5" to 5'3".
Nutrition: Parents often have concerns about their child's diet and nutrition. During infancy and early childhood, feeding problems may contribute to slower than expected weight gain. The presence of congenital heart disease, hypothyroidism, or gastrointestinal problems may further compromise growth (children with these disorders usually do not gain weight as quickly as those without). During late childhood or early adolescence, a child's weight may continue to increase out of proportion to body height, resulting in obesity. Thus, good nutrition, a sensible diet, and a regular program of exercise are encouraged for all children. We can provide you with help in meal planning and nutritional counseling by a clinical nutritionist if desired.
Behavior: As children grow older, behavior is sometimes a concern to parents. Increased levels of activity, noncompliance, or repetitive behaviors may be noted in some children. The reason why some children manifest behavioral difficulties while others do no remains uncertain and is probably a reflection of many different factors. We will work with you to help you understand and manage your child's behavior should this ever become a concern.
Respiratory Infections: Infants and children with Down syndrome are more susceptible to both viral and bacterial infections, particularly of the upper respiratory tract. Recurrent infections of the middle ear (otitis media), sinuses (sinusitis), and nasal passages (rhinitis) are frequently seen. Symptoms may by worsened by seasonal allergies or during the winter months. The use of prophylactic antibiotics should be considered in children who experience more than 4 or 5 infections a year. Consultation with an ENT physician is recommended, as ventilation tubes may be helpful in preventing otitis media.
Lower respiratory tract infections, such as bronchiolitis or pneumonia, are also more common and may be quite serious in infants with congenital heart disease. Symptoms often include wheezing, labored breathing, and "air-hunger". Immediate medical attention is required. The flu vaccine is recommended for all children with uncorrected cardiac disease or those who experience recurrent lower respiratory tract infections.
Sleep Apnea: Obstructive sleep apnea (OSA) is defined as failure to breath for more than 10 seconds despite chest wall movement. OSA is quite common and is seen in up to 30% to 40% of children with Down syndrome. Symptoms may include snoring, restless sleep, unusual sleep position (sitting up or bent over in a sitting position), mouth breathing, daytime tiredness, or change in behavior. Over time OSA can lead to low blood oxygen levels, increased carbon dioxide levels, enlarged heart, and increased pulmonary pressure. These complications are usually reversible with proper treatment. Diagnosis requires observation and monitoring in a laboratory equipped for sleep study. Consultation with a pulmonologist and ENT physician is mandatory.
Puberty: Children with Down syndrome experience the same sequence of physical and hormonal changes associated with puberty as other children their age. The emotional changes characteristic of adolescence are also present. Menstruation in girls with Down syndrome is different than for other girls in the general population. On average, they begin menses at age 12 ½ (range 10 to 14 years). Most girls have regular cycles or cycle with the same minor irregularities typical of other women. Approximately 50% of all women with Down syndrome do ovulate and are fertile. Boys with Down syndrome tend to reach sexual maturity slightly later than their peers. Most, if not all, males are thought to be sterile, although research on this topic remains somewhat unclear.
We can help you and your adolescent by providing counseling, educational materials, and answers to specific questions regarding fertility, reproduction, contraception, and sexual development if desired.
Cooley, W., & Grahman, J., (1991). Down syndrome: An update and review for the primary pediatrician. Clinical Pediatrics, April, (p. 233-253). Pueschel, S., & Pueschel, J. (1992). Biomedical concerns in persons with Down syndrome (p.320). Baltimore: Paul H. Brookes Publishing Co.
The article above is reproduced from the Down Syndrome Guide disseminated by the Down Syndrome Clinic at Kennedy Krieger Institute. In accordance with federal copyright restrictions, the contents of this booklet may not be reproduced by photocopying or any other means without written permission from the copyright holder. © 1999 George Capone, M.D.
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