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 Are Some Babies With Down Syndrome Born With? How Do You Correct Them?
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 physician examines a baby for the first time and can be corrected with a simple surgery.
Between 2-15% of infants with Down syndrome are born with Hirschsprung disease, which results when the last part of their large intestine does not function properly due to a lack of certain nerve cells. As a result, children and cannot properly expel stool. Symptoms of Hirschsprung 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 stooled 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 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—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 occludes 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 feeds and has frequent choking episodes, he or she might be among the 1% 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. The diagnosis can be made by passing a tube down a baby’s nose and/or through a chest X-ray. Surgical correction is curative.
Are Babies With Down Syndrome Able to Breastfeed?
Babies with Down syndrome oftentimes 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 of 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, the body’s swallowing tube. Many 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, 1-5% 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 during feeds. 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 might be helpful as additional testing can be done.
If an Individual With Down Syndrome is Constipated, What Might be the Causes? And What Are the Treatment Options?
People with Down syndrome can be constipated for all of the same reasons that people without Down syndrome become constipated—poor diet and lack of exercise, among many reasons. However, people with Down syndrome are also prone to three conditions that can result in constipation:
- Hirschsprung disease
- Celiac Disease
Hypothyroidism results when the body’s thyroid gland does not produce enough thyroid hormone, which regulates many activities in the body, including stooling. This can be diagnosed with a simple blood test and treated with synthetic thyroid hormone. Hirschsprung disease is described above and 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 the 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.
What Is Celiac Disease? Should Children and Adults Be Tested?
Celiac disease is a condition where the body is unable to properly digest barley, rye, and wheat products, causing damage to the lining of the intestine and preventing the absorption of certain nutrients. 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.
There is a higher risk of this condition in individuals with Down syndrome; 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 the simple blood test. In addition, doctors should consider screening tests for adults with Down syndrome, especially when there is weight loss, poor nutrition or persistant changes in bowel habits. 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.
Is Obesity a Problem for People With Down Syndrome? What Are the 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 to explain the obesity, such as hypothyroidism or a lower rate of metabolism. Additionally, 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. Therefore, paying close attention to the weight of a person with Down syndrome is of prime importance to his or her lifelong health. Oftentimes, working closely with a nutritionist is beneficial to families.
Special thanks to Brian Skotko, M.D., M.P.P., for preparing this piece.