People with Down syndrome have an increased likelihood of developing medical conditions that can interrupt or interfere with their gastrointestinal (GI) systems. Some of these medical issues can be managed by a primary care physician while others may require the added expertise of a GI specialist.

What Types of GI Issues are Some Babies with Down Syndrome Born With?

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. Symptoms of this 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 should consider getting an x-ray. 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.

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 inappropriately wraps around the duodenum and occludes it. The end result is that digested food cannot pass through the abdomen. Surgery is curative.

If a newborn with Down syndrome bubbles 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 and the esophagus. 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. Surgery is curative.

Are Babies With Down Syndrome Able to Breastfeed?

Babies with Down syndrome often have low muscle tone and sometimes have trouble forming a latch to breastfeed. With the help of lactation specialists, many mothers are able to breastfeed their baby with Down syndrome.

What is Reflux and how is it Treated?

Reflux – medically known as gastroesophageal reflux disorder (GERD) – is a condition that results when acidic stomach contents travel backwards up the esophagus. Many babies with and without Down syndrome have GERD. For some babies, though, the severity of symptoms, warrants 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 improvement for most individuals. In certain cases, a consultation with a GI specialist might be helpful as additional testing can be done.

What is the Cause and Treatment for Constipation in an Individual With Down Syndrome?

• Hypothyroidism
• Hirschsprung disease
• Celiac disease

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 and Should Individuals With Down Syndrome get Tested for it?

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 them 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, particularly 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 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 metabolism rate. 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 important to his or her lifelong health. Often, working closely with a nutritionist is beneficial to families.