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The GI System and Down Syndrome

National Down Syndrome Society

The gastrointestinal (GI) system includes all the parts of your body -- from mouth to anus -- that are involved in the digestion of food. Beginning in the newborn period, people with Down syndrome have an increased likelihood of developing medical conditions that interrupt or interfere with this digestion. Some of these medical issues can be managed by a person's primary care physician; others might require the added recommendations of a GI specialist.

What types of GI issues might my baby be born with? How do you correct them?

Approximately 3 percent of infants with Down syndrome are born with an imperforate anus, meaning that there is no open anus through which stool can pass. This is easily identified when a physician examines a baby for the first time, and simple surgery can correct it.

Between 2 and 15 percent of infants with Down syndrome are born with Hirschsprung's disease, which results when the last part of their large intestine does not function properly because of a lack of certain nerve cells. As a result, children cannot properly expel stool. Symptoms of Hirschsprung's disease in early infancy include a swollen abdomen, vomiting, and an inability to expel stool. Children may also present later in life with severe constipation. If an infant has not passed stool in the first few days, a physician might consider getting an X-ray. However, a definitive diagnosis is made by a rectal biopsy (removal of a small piece of rectal tissue for examination under the microscope). The treatment involves surgically removing the portion of colon that does not function properly.

If a newborn with Down syndrome has severe vomiting from birth, he might be among the approximately 5 percent of babies with Down syndrome who have a duodenal obstruction, which means that the first part of the small intestine -- the duodenum -- becomes blocked. Usually this occurs because the duodenum developed differently during the fetal period. This can also occur when the pancreas, an organ that helps the body digest food, inappropriately wraps around the duodenum and obstructs it. The end result is that digested food cannot pass through the duodenum; surgery is curative.

If a newborn with Down syndrome is bubbling up milk during feedings and has frequent choking episodes, he might be among the 1 percent of babies with Down syndrome who have a tracheoesophageal fistula -- that is, an inappropriate connection between the trachea (the body's wind pipe) and the esophagus (the body's swallowing tube). With this condition, food inappropriately enters the wind pipe and the lungs. A doctor can diagnose this by passing a tube down a baby's nose or through a chest X-ray, or both. Surgical correction is curative.

Will my baby with Down syndrome be able to breastfeed?

Babies with Down syndrome often have low muscle tone (hypotonia) and sometimes have trouble forming a latch to breastfeed. However, with the help of lactation specialists, many mothers are able to provide all the known benefits of breastfeeding to their baby with Down syndrome. More information is available from La Leche League International.

What is reflux? What are the available treatments?

Reflux -- medically known as gastroesophageal reflux disorder (GERD) -- is a condition that results when acidic stomach contents travel backwards up the esophagus, a person's swallowing tube. All babies with and without Down syndrome have GERD; for some babies, however, the severity of symptoms warrant special attention.

Based on the current studies available, between 1 and 5 percent of people with Down syndrome have GERD and experience symptoms such as heartburn or intolerance with certain foods. In babies, reflux is typically expressed as intense back arching and crying while feeding. GERD typically results when the muscular ring at the end of the esophagus becomes relaxed, allowing the stomach contents to track backwards. Medication therapies result in significant improvements for most individuals. In certain cases, a consultation with a GI specialist and additional testing might be helpful.

If my child is constipated, what might be the causes? What are the treatment options?

Children with Down syndrome can be constipated for all of the same reasons that kids without Down syndrome become constipated: poor diet and lack of exercise, among many reasons. However, children with Down syndrome are also prone to three conditions that can result in constipation:

1. Hypothyroidism
2. Hirschsprung's disease
3. Celiac disease

Hypothyroidism results when the body's thyroid gland does not produce enough thyroid hormone; this hormone regulates many activities in the body, including the formation and processing of stool. A simple blood test can diagnose hypothyroidism, and synthetic thyroid hormone can treat the condition. Hirschsprung's disease is described above and most often diagnosed within the first year of life. Celiac disease is a condition in which the body cannot properly digest certain foods, and it's described next.

If none of the above three conditions can explain your child's constipation, you should work closely with your child's doctor to explore some laxative medications that are safe for children. In certain occasions, where the cause of constipation might be due to behavioral factors, working with a developmental-behavioral specialist could also be helpful.

What is celiac disease? Should my child be tested for it?

Celiac disease is a condition in which the body is unable to properly digest barley, rye, and wheat products. The condition can range from mild to severe, and the symptoms can also vary, including diarrhea, vomiting, constipation, and difficulty gaining weight. A simple blood test can yield an initial diagnosis, but a definitive test requires a special procedure from a GI specialist.

Up to 16 percent of individuals with Down syndrome are believed to have celiac disease. Because of this high percentage, all infants with Down syndrome between the ages of 2 and 3 should be screened for celiac disease with the simple blood test. Left untreated, celiac disease can result in malnutrition, decreased growth, and, in rare cases, intestinal cancer (lymphoma). The treatment is dietary and involves eliminating all barley, rye, and wheat from a person's diet. Working with a dietician is often helpful to families.

Is obesity a problem for people with Down syndrome? What are the treatment options?

There have not been any large-scale studies quantifying the percentage of people with Down syndrome who are either overweight or clinically obese. However, most families and clinicians would agree that weight problems are common. Sometimes there are medical reasons for the obesity, such as hypothyroidism or a lower rate of metabolism. Additionally or alternatively, people with Down syndrome frequently consume too many calories and have little to no exercise.

Building healthy eating habits while a person is young is key to preventing obesity in adolescence and adulthood. Obesity has been linked to secondary health problems such as high blood pressure, obstructive sleep apnea, and diabetes. Paying close attention to the weight of a person with Down syndrome is key to his or her lifelong health. Working closely with a nutritionist is often beneficial to families.

Originally featured on National Down Syndrome Society (NDSS.org) and reprinted with permission. Copyright ? 2012 Meredith Corporation.