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What are the Medical Problems Associated with Down Syndrome?

Although babies with Down syndrome can be just as healthy as any other children, they can also have special medical problems. Even though some of these problems can be quite serious, the good news is that medical treatments have improved substantially, and the vast majority of babies with Down syndrome grow up healthy and active.

Chaira Kozma M.D., Babies with Down Syndrome - Edited by Karen Stray-Gundersen

Will my baby have medical problems?

Children with Down syndrome are at an increased risk for a wide range of medical problems. These potential problems include congenital heart defects, increased susceptibility to infection, respiratory problems, gastrointestinal disorders, and childhood leukemia. However, not every baby with Down syndrome develops health problems and most of these health problems are now treatable.

What are congenital heart defects?

A congenital heart defect is a heart problem that is present at birth. Between 30 and 45 percent of babies with Down syndrome are born with heart defects. These defects vary from mild defects which may disappear with time to severe defects which will require major surgery. In most cases a cardiologist can detect a heart defect soon after birth.

The most common congenital heart defect is Atrioventricular (AV) septal defect. This problem occurs when the valves separating the atrium (upper chamber of the heart) from the ventricle (lower chamber of the heart) leak allowing blood to flow in the wrong direction. This problem is quite serious but can corrected with surgery in infancy. The second most common problem is a hole in the wall of either the ventricles (Ventricular Septal Defect or VSD) or between the atrium (Atrial Septal Defect or ASD). Small holes do not cause any strain on the baby and often close by themselves. Larger holes may require surgery.

Babies with heart defects sometimes show symptoms. These symptoms can include feeding problems, a change in color during feeding, poor growth, and labored breathing.

What endocrine problems can occur?

The endocrine system is made up of the glands that produce and secrete hormones. These include the thyroid, the pituitary gland, the adrenal glands, the pancreas and many others. The most common endocrine problem in children with Down syndrome involves the thyroid. The thyroid, located in the throat, is the largest endocrine gland in the body. The thyroid secretes a wide array of hormones that regulate metabolism, heart rate, and growth.

The most common type of thyroid problem both among the general population and children with Down syndrome is hypothyroidism. Hypothyroidism means that the thyroid is not producing sufficient amounts of hormones. Hypothyroidism can be a serious problem if left untreated so it is important that children with Down syndrome be tested at birth and then on a yearly basis to insure that the thyroid is working correctly. Untreated, hypothyroidism can lead to slow growth, skin disorders, blood disorders, sleep disorders, learning disorders, and feeding disorders. Fortunately, hypothyroidism can be easily treated with an oral medication, L-thyroxine. This is an inexpensive medication which serves to replace the missing hormones.

Hyperthyroidism is a condition where the thyroid produces too much thyroid hormone. One form of this condition is Graves disease. Symptoms include nervousness, irritability, increased appetite, increased perspiration, disturbed sleep and an enlarged thyroid. This condition is treated with medication to block the production of thyroid hormone. In some cases the thyroid may be removed or destroyed with radioactive iodine. In this case, L-thyroxine would be used to replace the thyroid hormones.

Children with Down syndrome may have a shortage of growth hormone (hGH) which is produced in the pituitary gland. hGH replacement is fairly controversial, but a child with reduced levels of hGH may be a candidate for hGH replacement therapy. It is quite common for children with genetic disorders such as Down syndrome to be short in stature and special growth charts have been developed for children with Down syndrome. However, some doctors have come to believe that children with Down syndrome should be charted on the normal growth charts. If a child fails to grow on these charts, it may be a sign that there is an endocrine problem such as hypothyroidism or hypopituitarism.

What skin problems can occur?

Infants with Down syndrome tend to have very soft skin but as they grow older their skin can become dry and coarse. A common problem for children with Down syndrome is atopic dermatitis (also called atopic eczema). This is a condition where the child has a dry, red, and scaly rash usually on the cheeks, arms, legs, or trunk. This condition is actually found in up to 10% of all children but is more common in children with Down syndrome. No permanent cure exists but the condition can be controlled. The skin should be treated with moisturizers and mild soaps or soap-free cleansers (such as Cetaphil) should be used to clean the skin. More severe cases should be treated by a dermatologist who can prescribe topical corticosteroids. Some parents have reported successfully treating atopic dermatitis by eliminating dairy and gluten (found in wheat) products from the diet. Our son had a severe case of atopic dermatitis on his cheeks and chin. We replaced cow milk with soy milk and switched him to rice cereals and saw a dramatic improvement in his skin in a very short time.

Alopecia Areata (AA) is an autoimmune disease involving the hair and nails. Although rare, it does tend to occur more often in people with Down syndrome. It is believed that AA is an autoimmune reaction where the body attacks its own hair follicles. A person with AA usually develops bald patches although generalized thinning or complete baldness may also occur. In most cases, children with AA may have a few small patches that disappear without treatment within one year. AA can be treated with topical steroids or topical irritants but in young children these treatments are usually not practical.

What gastrointestinal problems can occur?

The gastrointestinal (GI) tract consists of the parts of the body that take in food, extract the nutrients, and dispose of the waste. Gastrointestinal problems tend to be more common in children with Down syndrome than in the normal population, however most of these conditions are rare. Gastrointestinal problems fall into two basic area:
  • anatomical anomalies - the structure of the organs is abnormal
  • functional disorders - the organs do not work the way they should

The most common anatomical anomalies are:
  • aganglionic megacolon - Also called Hirschsprung's disease, this is a condition where parts of the bowel have no nerve cells. Children with this condition can become extremely constipated. Severe cases can be life threatening if left untreated. Hirschsprung's is normally treated by surgically removing the part of the bowel that does not function correctly.
  • annular pancreas - This is a condition in which the pancreas is ring-shaped and constricts part of the intestine. Depending on the amount of constriction, this can be a serious medical emergency. This condition is normally treated surgically.
  • duodenal atresia and duodenal stenosis - Both of these conditions involve a narrowing of the small intestine the difference being the amount of the narrowing. In duodenal atresia, the first part of the intestine where it connects to the stomach is completely blocked off. Since no food can pass from the stomach into the intestines, this condition must be treated immediately by surgically removing the blocked part of the intestine. A duodenal stenosis involves a narrowing of the intestine. Depending on the amount of narrowing, surgery may be required. In less serious cases, the condition may be managed through diet.
  • imperforate anus - This is a condition in which the anus (the external opening of the colon) is blocked. This condition is normally treated with surgery within the first few days after the baby is born.
  • tracheo-esophageal fistula - This is a condition where there is an opening between the windpipe and the esophagus. Some children have this condition without developing any problems. Others may require surgery to close the fistula to prevent fluids from travelling from the esophagus into the trachea.
  • pyloric stenosis - This is a narrowing of the pylorus, the junction where the stomach empties into the small intestine. This is treated with a simple surgical procedure that usually works very well.
It is important to understand that any of these conditions can occur in any child although they do tend to be more common in children with Down syndrome.

The most common functional disorders are:
  • esophageal motility disorders and gastro-esophogeal reflux. Children with Down syndrome often have problems with reflux. Reflux does not mean that the child spits up during or after a feeding. In most cases, this simply means the child has swallowed air. Reflux can occur because the esophagus is having trouble propelling food into the stomach or it may occur because the stomach is emptying too slowly. Persistent reflux may cause serious problems since the stomach contents are highly acidic and can damage the esophagus, larynx, or trachea. If the child aspirates stomach acids, they may gag or cough just after feeding. Reflux is normally treated with medicines to reduce stomach acidity and to help move food through the stomach faster. In many cases, the child may grow out of the problem.
  • malabsorption disorders - Children with Down syndrome sometimes have a condition called celiac disease in which the intestines lose the ability to absorb nutrients. This condition is normally treated by eliminating gluten from the diet. There are other malabsorption disorders but children with Down syndrome are no more likely to have these conditions then the rest of the population. Some children with Down syndrome may have trouble absorbing certain vitamins. If the child is not growing well or has an increased number of ordinary infections that are difficult to cure, they may have a vitamin absorption problem. A blood test can help to determine if this is a problem.

What respiratory problems can occur?

Children with Down syndrome are at risk for respiratory infections. Some respiratory infections are caused by a weak cough which is sometimes seen in children with hypotonia. Other causes of respiratory infection are heart problems leading to fluid in the lungs, regurgitation of food from the stomach into the lungs, and weakened immune systems. Sleep apnea, temporary stopping of breathing during sleep, is also sometimes seen in children with Down syndrome. Sleep apnea is often caused by the adenoids or tonsils being too large for the size of the mouth. Symptoms of sleep apnea include restlessness, noisy breathing, and snoring. This can be a serious problem since the baby may have reduced oxygen levels to the brain. Treatment can include removing the tonsils or adenoids.

What orthopedic problems can occur?

Children with Down syndrome experience a wide range of orthopedic problems due to their loose ligaments and hypotonia. These problems include scoliosis (side-to-side curvature of the spine), joint dislocation, hip and knee cap instability, weak ankles, and problems with the feet including pronation and flat feet. Some of these conditions may not produce any symptoms while others may require surgery depending on the severity.

As many as 20% of all children with Down syndrome may have a weakness or instability in the spinal column in the neck. This is a condition called atlanto-axial instability. This condition, if not diagnosed, can lead to spinal cord damage which can lead to paralysis or death. It is important that children with Down syndrome be screened for this condition. Screening is done with both a neurological exam and with x-rays. Normally, the screening is done between the ages of 4 and 6. Treatment will depend on the amount of instability present and the distance separating the vertabrae. If the condition is severe enough, surgery may be required.

What problems with vision and hearing can occur?

Close to 70 percent of children with Down syndrome will have some type of vision problem. These problems include farsightedness, nearsightednes, strabismus (crossed eyes), amblyopia (lazy eye), astigmatism, cataracts, and blocked tear ducts. All of these problems can be treated if detected early. All children, not just children with Down syndrome, should have their eyes tested.

Some studies suggest that as many as 60 percent of children with Down syndrome experience some type of hearing loss. The development of speech depends on hearing so it is important that children be tested to determine if they are experiencing hearing problems. Hearing loss can be treated with antibiotics to treat infections, eustachian tubes (implanted in a minor surgical procedure) to remove fluid from the inner ear, or, if necessary, hearing aids. With early detection, children with Down syndrome should be able to hear normally.

The material in this site is provided for educational and informational purposes only, and is not intended to be a substitute for a health care provider's consultation.

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This page last updated on 15 April 2008.

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Thomas and Michel Paul - Email: tom.and.michel AT gmail DOT com