Introduction
Individuals with Down syndrome are susceptible to health conditions that may impair or interfere with gastrointestinal function. Some of these conditions can be managed by a primary care physician, whilst others may require referral to a gastroenterologist.
Congenital Gastrointestinal Conditions in Infants with Down Syndrome
Imperforate Anus
Approximately 3% of children with Down syndrome are born with imperforate anus — the absence of an anal opening. This is readily identified at the infant's first examination and corrected with a straightforward surgical procedure.
Hirschsprung's Disease
Between 2% and 15% of children with Down syndrome are born with Hirschsprung's disease, caused by the absence of certain nerve cells in the final portion of the large intestine. Symptoms in early infancy include abdominal distension, vomiting, and inability to pass stool; older children may experience severe constipation. If a newborn has not passed stool within the first few days, an X-ray should be requested. A definitive diagnosis is made by rectal biopsy, and treatment involves surgical removal of the affected colon segment.
Duodenal Atresia
Approximately 5% of infants with Down syndrome who present with severe vomiting from birth may have duodenal atresia — obstruction of the first section of the small intestine, typically due to abnormal foetal development or abnormal pancreatic positioning. The condition is treated surgically.
Tracheo-oesophageal Fistula
Approximately 1% of newborns with Down syndrome presenting with milk bubbling and repeated choking episodes may have a tracheo-oesophageal fistula — an abnormal connection between the trachea and oesophagus. Diagnosis is made by nasal tube passage or chest X-ray, and the condition is treated surgically.
Breastfeeding in Infants with Down Syndrome
Infants with Down syndrome commonly have low muscle tone which may make latching difficult. With lactation specialist support, however, many mothers have successfully breastfed their infants.
Gastro-oesophageal Reflux Disease (GERD)
Studies suggest that 1–5% of individuals with Down syndrome experience GERD with symptoms such as heartburn or food intolerance. In infants, it typically presents as pronounced back-arching and crying during feeds. Medication produces significant improvement in most patients.
Constipation: Causes and Management
In addition to common causes, individuals with Down syndrome are specifically susceptible to three additional causes:
- Hypothyroidism
- Hirschsprung's disease
- Coeliac disease
If none of these is identified, carers and clinicians should work together to find a safe laxative approach. A developmental-behavioural specialist may be helpful when constipation has a behavioural component.
Coeliac Disease
Coeliac disease prevents the body from digesting gluten (barley, rye, and wheat), damaging the intestinal lining and impairing nutrient absorption. Symptoms range from mild to severe and include difficulty gaining weight, diarrhoea, vomiting, constipation, nutritional deficiency, and behavioural changes.
Up to 16% of individuals with Down syndrome are estimated to have coeliac disease. All infants should be screened between ages two and three years, and adults should be tested when weight loss, nutritional deficiency, or persistent bowel changes occur. Untreated, it may cause malnutrition and in rare cases intestinal lymphoma. Treatment is a strict gluten-free diet.
Obesity and Weight Management
Weight problems are common in individuals with Down syndrome, attributable to hypothyroidism, reduced metabolic rate, high caloric intake, and limited physical activity. Obesity is linked to hypertension, obstructive sleep apnoea, and diabetes. Maintaining a healthy weight is essential for lifelong health, and working with a dietitian is often beneficial.
Source: Information in this section has been reproduced under an exclusive agreement with the National Down Syndrome Society (NDSS). Available at: www.ndss.org