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Medical and paramedical

Dietary and digestive disorders in children with down syndrome

By Doctor Aimé Ravel, pediatrician at the Jérôme Lejeune Institute

Dietary and digestive disorders are the main focus because of their frequency and impact on daily life. In this medical fact sheet, we’ll discuss the main disorders. It is not a question here of drawing up a catalog of issues that may have affected your child and from which they have since recovered, but of showing the importance of regular medical monitoring by a doctor who properly understands the points to focus on, as well as shedding some light for any parent who wants to improve their understanding.

In order to study them, we’ll be categorizing the disorders into three groups so that we can list the main ones:

– Birth defects: anatomical disorders that can be explained by embryology;

– Biological disorders: all blood and humoral imbalances of biochemical, cellular, immune or infectious origin,

– Other functional disorders.




Before birth

Some digestive, diaphragm and abdominal wall disorders can be detected in utero by ultrasound, which usually leads to genetic testing.


After birth

The duodenum is the first segment of the small intestine. It may be subject to complete interruption (atresia), manifesting in newborns with bilous vomiting, or narrowing (stenosis), which can sometimes be late to manifest once solid foods have been introduced. Atresia and duodenal stenosis are observed among 3.9% of babies with Down syndrome. They are more common among boys, and they require surgical treatment. The annular pancreas, where the pancreas encloses the duodenum, is similar.

An artery arising from the aorta – the right subclavian artery – may be abnormally located and compress the esophagus. This is found among 12% of children with Down syndrome suffering from cardiopathy.

Hirschsprung’s disease (2.76%) results from the absence of nerve cells in the wall of the colon, which leads to intestinal obstruction. The longer the segment without nerve cells, the more severe the disease. The surgeon removes the paralyzed segment. Patients are most diagnosed at 48 hours of life. When the paralyzed segment is limited to the anus region, the diagnosis is more difficult.

Imperforation of the anus (or anorectal atresia) is quite common in children with Down syndrome (1.16%). Intervention must be prompt because of the risk of perforation.

Congenital anomalies of the liver vessels have been described.

Cleft lip and palate are slightly more common in children with Down syndrome (0.6%) than in the general population (1/750). Bifid uvula (4.63%) and submucosal cleft palate (0.77%) are weaker, more common forms of these disorders.

Esophageal atresia (interruption of the esophagus) affects 0.5-0.9% of babies with Down syndrome (1/3500 of the general population).

Pyloric stenosis affects 0.3% of babies with Down syndrome (5/1000 of the general population).

Numerous cases of diaphragmatic hernia (a breach in the diaphragm allowing abdominal organs to pass into the thorax) have been published.

Malrotation of the small intestine is also possible.



During birth

Physiological jaundice can occur in all newborns, i.e. benign jaundice related to the breakdown of excess red blood cells following birth. However, pathological jaundice – known as retention jaundice – can also occur in 3.9% of Down syndrome babies, with discolored stools and brown urine, which can be due to several causes.

After birth

Several studies have shown the frequency of low vitamin D levels in people with Down syndrome, including in sunny countries. They should therefore be given vitamin D as a matter of routine.

Helicobacter pylori infection is common. This bacterium causes stomach irritation (gastritis), and may even result in an ulcer of the stomach or duodenum. The bacteria is present in the saliva and stools of infected people, with most common signs being poor weight growth, abdominal pain and anemia. Blood tests are used to screen for the bacteria.

Non-alcoholic cirrhosis associated with fatty liver may occur among children with Down syndrome, and even in non-obese children and adults. It may be brought on by sleep apnea.

Biliary lithiasis and sludge are very common, most often discovered on routine ultrasound. Among children with Down syndrome under 3 years of age, 6.9% had biliary lithiasis and 2.1% had biliary sludge.

The overall prevalence of celiac disease (gluten intolerance) is estimated at 6.6% in children and 5.1% in adults with Down syndrome, which justifies its routine screening by blood examination. More often than not, it isn’t associated with any digestive disorder.

Geographic tongue is encountered in 4% of children with Down syndrome. It is frequent and benign. Doctors need to reassure patients and look for unpleasant sensations that suggest mycotic superinfection.

Several studies have shown the sensitivity of people with Down syndrome to the hepatitis B virus and their predisposition to develop chronic hepatitis. Vaccination is strongly recommended. No increased incidence of hepatitis A has been found.

Several cases of Crohn’s disease have been published, with the main signs being abdominal pain, weight loss and diarrhea.

A few cases of pancreatitis have been published in children with Down syndrome, with intense abdominal pain evoking the diagnosis.

Immune disorders of the liver (autoimmune hepatitis and cholangitis) have been reported, manifesting in fatigue, nausea, weight loss and pruritus.



Feeding difficulties are frequent: poor sucking and swallowing difficulties in the first months of life; followed by chewing difficulties and dysphagia later on. Reflux of food through the nose is not uncommon in the first months of life, perhaps promoted by the inadequacy of the soft palate.

Gastroesophageal reflux is frequent (found in 47% of children with sleep apnea), and may promote uncontrolled asthma and repeated respiratory infections, especially in young children. Narrowing (peptic stenosis) of the esophagus is a long-term complication.

Achalasia – a motor disorder of the esophagus whereby food has difficulty moving down into the stomach – is more common in people with Down syndrome than in the general population.

Obesity and excess weight are a significant problem. BMI is more effective than weight in detecting obesity, and BMI curves established for the general population should be used rather than curves specific to people with Down syndrome. A significant proportion of obese people would be overlooked otherwise. Today, sleep apnea and low physical activity are considered to be the main factors of obesity and excess weight. Maternal obesity and excess weight in the general population are correlated with that of young adults with Down syndrome, suggesting dietary habits and barriers to physical activity have roles to play. One study showed that people with Down syndrome eat little fruit, vegetables and fish, while another revealed that they eat significant amounts of protein, fat and sugar when able to choose their own food. Studies also show that with equal physical activity, people who have Down syndrome do not have a higher body fat than those who do not.

Obesity increases the risk of sleep apnea: BMI correlates with the apnea-hypopnea index in people with Down syndrome. Obesity affects walking, especially the hips. Being overweight increases the pressure on the arch of the foot, so the feet of people suffering from obesity must be monitored regularly. Prevention of obesity requires increased physical activity and diet monitoring. It is recommended that BMI be monitored 2 or 3 times a year from birth.

Constipation is one of the most frequent symptoms found in consultation. Hirschsprung’s disease and gluten intolerance should always be considered, of which constipation is one of the most frequent signs.

In practice :

An important factor that the doctor should take into account is the difficulty people with Down syndrome have in expressing pain. Pain often manifests in behavioral issues.

Patients with Down syndrome must be taken seriously when expressing pain, noting that they may have trouble locating it. Most young patients who complain of “teeth” pain are actually experiencing erosive esophagitis or erosive gastritis.

Anatomical disorders are sometimes discovered late because of the specific characteristics of these patients, i.e. late introduction of solid food and inability to express pain.

Feeding difficulties often go ignored by those in the family setting when it comes to children, or those in an adult’s educational setting. It is therefore important that a competent professional – either a speech therapist or trained nurse – observes their meals.

The frequency of mastication disorders and dysphagia justify early speech therapy. It is important to start speech therapy early to work on praxis, as the quality of chewing goes hand in hand with the quality of articulation. In the case of dysphagia or masticatory difficulties, it is common practice to give patients only smooth textured food. This is a mistake because the development and maintenance of oral sensitivity requires crunchy, crispy or granular textures.

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