Gastrointestinal System and Down Syndrome

Imperforate anus 

Approximately 3% of infants with Down syndrome are born with an imperforate anus, meaning that there is no open anus from which stool can be passed. This is easily identified when a doctor examines a baby for the first time and can be corrected with a simple surgery. 

Hirschsprung disease 

Between 2-15% of infants with Down syndrome are born with Hirschsprung disease, which results when the last part of the large intestine does not function properly due to a lack of certain nerve cells. As a result, children cannot have bowel movements. Symptoms of Hirschsprung disease in early infancy include a swollen abdomen, vomiting, and an inability to have a bowel movement. Children may also present later in life with severe constipation. If an infant has not had a bowel movement in the first few days, a doctor might recommend 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 the colon that does not function properly. 

Duodenal obstruction 

If a newborn with Down syndrome has severe vomiting from birth, he or she might be among the approximately 5% of babies with Down syndrome who have a duodenal obstruction, which means that the first part of the small intestine—the duodenum—is 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, wraps tightly around the duodenum and blocks it. The result is that digested food cannot pass through the duodenum. Surgery can correct the issue. 

Tracheoesophageal fistula 

If a newborn with Down syndrome is bubbling up milk during feeds and has frequently choked, he or she might be among the 1% of babies with Down syndrome who have a tracheoesophageal fistula—that is, a connection between the trachea (the windpipe) and the esophagus (the swallowing tube). With this condition, food enters the windpipe and the lungs. The diagnosis can be made by passing a tube down a baby’s nose and/or through a chest X-ray. Surgery will close the connection. 

Babies with Down syndrome often have low muscle tone (hypotonia) which can make it difficult to form a latch to breastfeed. However, with the help of lactation (breastfeeding) specialists, many mothers are able to breastfeed their babies with Down syndrome.  

Reflux—medically known as gastroesophageal reflux disorder (GERD)—is a condition resulting when acid from the stomach travels back up the esophagus (the swallowing tube). Many babies with and without Down syndrome have GERD; for some babies, however, the symptoms are severe enough that they require a doctor’s attention.  

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

People with Down syndrome can be constipated for the same reasons people without Down syndrome become constipated including poor diet and lack of exercise. However, people with Down syndrome are also prone to three conditions that can also cause constipation: 

• Hypothyroidism 

• Hirschsprung disease 

• Celiac Disease 

Hypothyroidism occurs when the body’s thyroid gland does not produce enough thyroid hormone, which regulates many activities in the body, including bowel movements. This can be diagnosed with a simple blood test and treated with synthetic thyroid hormone. Hirschsprung disease is described above and is most often diagnosed within the first year of life. Celiac disease is a condition where the body cannot properly digest certain foods and is described below. 

If none of the above three conditions explain constipation, caregivers and physicians should work together to explore safe laxative medications. In certain occasions where the cause of constipation might be due to behavioral concerns, working with a developmental-behavioral specialist could also be helpful. 

Celiac disease is a condition where the body is unable to properly digest barley, rye, and wheat products, causing damage to the walls of the intestine and preventing the body from getting nutrients from food. As the condition can range from mild to severe, the symptoms can also vary. Possible symptoms include difficulty gaining weight, diarrhea, vomiting, constipation, nutritional deficiencies, and general irritability or behavior changes. An initial diagnosis can be made through a simple blood test, but a definitive test requires a special procedure from a GI specialist. 

Up to 16% 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 a simple blood test. In addition, doctors should consider screening tests for adults with Down syndrome, especially when there is weight loss, poor nutrition, or persistent changes in bowel habits.  Left untreated, Celiac disease can result in malnutrition, decreased growth, and, in rare cases, intestinal cancer (lymphoma). The treatment is a gluten-free diet that eliminates all barley, rye, and wheat from a person’s diet. 

There have not been any large research studies calculating 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 to explain the obesity, such as hypothyroidism or a lower rate of metabolism. Like anyone, people with Down syndrome might 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 important to his or her lifelong health. Often, working with a nutritionist is helpful to families. 

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Special thanks to Brian Skotko, M.D., M.P.P., for preparing this piece.