Problems with the gastrointestinal tract can either be caused by abnormal structure or may be because part of the tract is not functioning properly. Children with Down syndrome are more likely to have problems in both of these areas than the general population. Some of these problems are serious and life threatening and are likely to cause immediate problems in a newborn. Other issues may not be as serious, but nevertheless can cause considerable problems. Sometimes, gastrointestinal problems may not be noticeable by parents or doctors because some issues develop more slowly.
Gastrointestinal problems are a common cause of illness in all children. The more common problems include gastroenteritis (an infection affecting the stomach and intestines) and appendicitis. Regarding typical stomach and digestive problems, children with Down syndrome are no different than typically developing children. However, if a child with Down syndrome seems to have more gastrointestinal problems it is important to have a medical assessment which should consider both the common conditions as well as those that tend to more often affect children with Down syndrome.
As with any health issue, there are numerous symptoms that occur with gastrointestinal tract problems. The following sections discusses some of these symptoms.
All children vomit from time to time. In babies this may just be a small amount of undigested milk that is brought back after eating and is not usually a sign of an underlying disease or problem. It can often be helped by careful attention to feeding technique, avoiding taking in too much air and keeping the baby upright they eating for about half an hour. Children may also vomit when they are ill (e.g., flu, chicken-pox or other viruses). In these situations the vomiting is usually short lived and goes away when the underlying problem is resolved. If vomiting is severe, frequent (i.e. more than a few times a day) or prolonged (lasting more than a few days) a visit to the doctor’s is warranted. Other signs that the problem is more serious include bile stained vomit, or blood in the vomit. This may look dark brown or like coffee grounds mixed in the vomit.
Diarrhea is defined as frequent passing of loose, watery stools. It is impossible to specify how loose, or how often is “normal,” since every person is different. Many infants and toddlers (and some adults) will have several loose stools a day as their normal pattern. There will also be normal, healthy variations depending on what we eat and drink. The important thing is to notice if there is a significant change from the child's normal pattern that lasts more than a few days. Sometimes stools may be particularly bulky, foul smelling or look frothy or greasy. This may be a sign that something is not being absorbed properly in the diet.
Most people get constipated from time to time. Very hard stools can be a problem in themselves as they can be painful to pass and cause a small amount of bleeding on the way out. Sometimes constipation is not identified because the child is continuing to pass small amounts of liquid stools. This happens when hard, dry stool is retained in the rectum, while small amounts of liquid stool seep around the sides, often resulting in soiling.
Constipation is a common problem in children with Down syndrome, and in most cases it is not because of an underlying disease. It is likely a result of a combination of low muscle tone, poor motility, diet, and inadequate intake of fluids.
Giving extra fluids, fruit and increasing fiber may solve the problem, or it may be necessary for a doctor to prescribe a stool softener. If constipation is severe or persists despite these measures, then other causes should be considered. Hypothyroidism, a common problem for children with Down syndrome, can cause constipation. Another cause of constipation is Hirschprung's disease (see section below).
Children often complain of stomach aches. In many cases it is nothing to do with the gastrointestinal tract but is a general symptom of being unwell, or it may be the child's way of explaining a pain somewhere else in the body. It may also be a symptom of anxiety. Stomach pain is often caused by constipation. Advice should be sought from a doctor if it persists or if it is associated with other symptoms such as vomiting or the pain seems to be severe.
Stomach pain may also be related to the esophagus (heartburn or indigestion). Reflux tends to cause these problems. Reflux (discussed below) is more common in babies with Down syndrome and should be checked if the baby seems to be in pain; especially after eating.
This can be a symptom of many childhood disorders. It is often associated with gastrointestinal problems. Although the above mentioned gastrointestinal problems may not generally be serious, if they are associated with poor weight gain or weight loss, the help of a doctor is recommended.
It should be noted that children with Down syndrome do grow more slowly when compared with other children. They tend to be of shorter stature than their typical peers. Along with height differences, there are also different weight “standards” for children with Down syndrome. Like all children, there is considerable variation in size and weight so a child's actual weight is not as important as the rate of weight gain or the comparison with previous weight or height measurements for that child.
Around ten percent of children born with Down syndrome will have one of the following structural problems. The most common problems are discussed below.
A small bowel obstruction occurs when something is blocking the small bowel so food is unable to pass from the stomach to the large bowel. This can be a complete obstruction; where part of the bowel has failed to form at all, or a partial obstruction; where the bowel has formed but is narrower than a normally formed small bowel.
When the blockage is severe, it may be detectable before birth using an ultrasound scan. If the problem is not detected before birth, problems will usually present in the first few hours or days of life with vomiting or failure to pass stools. A less severe obstruction may not present so obviously, but vomiting is still likely to be the main symptom.
An x-ray is the best way to determine if there is a blockage and surgery is the most common form of treatment. The surgery involves removing the blocked section of bowel and reattaching again. In a small number of milder cases, surgery may be avoided through dietary intervention.
Sometimes babies are born without an anal opening (Imperforate anus). This is not common but occurs more often in children with Down syndrome. This condition is noticed at birth and requires immediate action. The extent of corrective surgery depends on the severity of the abnormality. Less severe problems occur when the anal opening is narrow thus causing constipation. In less severe cases, the opening can sometimes be stretched while the child is under anesthesia. The more severe cases require corrective surgery.
This problem is similar to an obstruction. The pancreas normally lies behind the lower part of the stomach and the first part of the small bowel. With this condition, the pancreas encircles the duodenum (the first short section of the small intestine immediately beyond the stomach) causing narrowing or blockage.
Hirschprung's disease is a relatively rare condition that tends to be found more often in children with Down syndrome (approximately two percent of children with Down syndrome). It is an abnormality of the lower part of the large bowel where part of the bowel wall is missing nerve cells. This means it cannot do its normal work of evacuating stools. Sometimes a long segment of bowel wall is affected. In this case it may be obvious in the newborn period because the baby does not pass any stools. More often these babies have chronic constipation, poor weight gain, vomiting and a swollen abdomen. If however only a short part of the bowel is involved (short segment Hirschprung's disease) symptoms are less severe. It is in these children that the diagnosis may be easily missed. It is important to consider the possibility of short segment Hirschprung's in any child whose constipation persists despite dietary measures and simple laxatives.
A diagnosis is made through a thorough medical examination, X-ray and biopsy of the bowel. Treatment usually involves surgery to remove the diseased part of the bowel. Sometimes it is necessary to use a colostomy after surgery. This is when the upper end of the remaining bowel is temporarily attached to an opening or stoma in the abdominal wall, through which stools are passed into a bag. This allows the bowel to heal. Then the sections of bowel can be reattached.
Babies with Down syndrome often have difficulties with eating, particularly if they are born prematurely. This may be a result of low muscle tone (hypotonia) and oral muscular difficulties with coordinating sucking and swallowing. Eating problems can also be associated with other medical problems. For instance, babies with Down syndrome may also have heart problems that could cause them to tire easily, or be short of breath and not able to eat adequately.
There are many methods that may help with eating problems including holding the baby in different positions while they eat, stimulating the baby to suck such as stroking their cheek, and, in bottle fed babies, trying different nipples or bottles.
Sometimes the baby is not able to eat adequately despite these measures and it may be necessary to feed the baby via a naso-gastric tube for a while. This is a small, flexible tube that is passed into the nostril, down the esophagus and into the stomach. This is usually only necessary for a short period of time.
This occurs when food that had already passed into the stomach and beyond comes back up into the esophagus and may be vomited up. Most healthy babies (and even older children and adults) experience this occasionally. It is more common in babies because their diet is made up of liquids and therefore more easily brought back up.
Babies with Down syndrome are more likely to have reflux, likely because the muscles of the stomach and esophagus that push food along seem to work less effectively. Symptoms may be very mild and are able to be managed with simple methods such as holding the baby in an upright position after they are done eating. However, if the vomiting is considerable the child may not gain weight. Also the acid contents of the stomach irritate the lower esophagus and can cause discomfort and sometimes bleeding from the esophageal wall. This in turn may cause anemia. In these cases, medical treatment is necessary.
Different types of medicine are normally used, often in combination. They work in a number of ways - by preventing the stomach contents flowing back, by neutralizing the stomach acid, and by improving the gastrointestinal motility. Rarely these measures won't be enough to control the problem and an operation to tighten up the area between the esophagus and stomach could be necessary.
This is a condition in which the bowels are unable to absorb particular nutrients from food. This causes a depletion of some nutrients and poor digestion. Children with malabsorbtion problems also experience serious vitamin and mineral deficiencies. While supplementation may help, if the gut can’t absorb the nutrients from food, they will have similar difficulties absorbing supplements as well. It is important for parents to work with their child’s healthcare practitioner to determine the best course of action regarding nutrient deficiencies and supplementation.
Celiac Disease is a type of malabsorption that is more common in Down syndrome. This condition is, in essence, a food allergy or intolerance to the protein called gluten. Gluten is the common name for the proteins in specific grains that are harmful to persons with celiac disease. These proteins are found in ALL forms of wheat (including durum, semolina, spelt, kamut, einkorn and faro) and related grains rye, barley and triticale and MUST be eliminated. Also to be noted is that some people may be sensitive to corn and soy products since the proteins in corn and soy are similar in make up.
When people with celiac disease eat foods containing gluten, an immune-mediated toxic reaction is created causing damage to the small intestine and does not allow food to be properly absorbed. Even small amounts of gluten in foods can affect those with celiac disease and cause health problems. Damage can occur to the small bowel even when there are no symptoms present.
Infants, toddlers, and young children often exhibit growth failure, vomiting, abnormal stools, bloated abdomen, tiredness, and behavioral changes.
The following are some of the related health problems that may occur as a result of celiac disease:
Specific antibody blood tests help identify the presence of CD and are the initial step in screening and should include the following tests:
The exception is children under the age of 2 years in which tTG and EMA may not be present. Parents should talk to their child’s doctor regarding these tests. It is essential that patients with positive antibody tests, and those with an IgA deficiency have a small bowel biopsy (which is performed endoscopically) to confirm the diagnosis and assess the degree of damage to the villi in the intestinal lining.
Because celiac disease is a chronic disorder, the only treatment is the lifelong adherence to the gluten-free diet. When gluten is removed from the diet, the small intestine will start to heal and overall health improves over time. Medication is usually not required. A child diagnosed with celiac disease should have medical follow-up to monitor the clinical response to the gluten-free diet.
Adapting to the gluten-free diet requires lifestyle changes. It is essential to read labels and learn how to identify foods that are appropriate for the gluten-free diet and do not contain gluten.
This section reviewed some gastrointestinal problems that occur in more often in children with Down syndrome. Many children will have none of these problems. Some might have one or two of them, and some might experience several issues at various times through out their lives. As with all medical conditions that may occur, parents should never allow the symptoms to be considered or dismissed as "just a part of Down syndrome.” They may be more common in children with Down syndrome but they are able to be treated or managed, thus giving the child an even healthier future.
Marder L., M.D., (August 1996), Gastrointestinal Problems in Children with Downs Syndrome, viewed on 27 April 2009, http://www.dsmig.org.uk/library/articles/gastro-article-marder.pdf
Celiac Disease Foundation, (2008), Viewed on 30 April 2009, http://www.celiac.org/cd-treatment.php.
Wallace RA, (2007), Clinical audit of gastrointestinal conditions occurring among adults with Down syndrome attending a specialist clinic. J Intellect Dev Disabil. Mar;32(1):45-50. Viewed on 2 May 2009, http://www.ds-health.com/reflux.htm.