Gastrointestinal problems in children with DOWN’S SYNDROME

DOWN’ S SYNDROME ASSOCIATION MEDICAL SERIES Design & T ypo g r a ph y supplied b y T hr ee Blind Mice www .thr ee-b lind-mice .co .uk

Notes for parents & carers Langdon Down Centre, 2a Langdon Park, Teddington, Middlesex, TW11 9PS Tel: 0845 230 0372 Fax: 0845 230 0373 www.downs-syndrome.org.uk The liver and pancreas are attached to the The Gastrointestinal and produce enzymes which help with the digestion of food. Problems with the gastrointestinal tract can either be due to abnormal tract structure i.e the organs are formed differently from usual, or may be because part of the tract is not functioning properly. by Dr Liz Marder Children with Down’s syndrome are more likely to have problems The gastrointestinal tract comprises the parts of the body involved in both of these areas than the general population. Some of in taking in food, processing it to make use of the nutrients and these problems are serious and life threatening and are likely to disposing of the solid waste. It includes the mouth, the oesophagus, cause immediate problems in the new born period. Other problems stomach, small intestines or bowel (duodenum, jejunum, ileum), the may not be so dramatic, but nevertheless cause considerable large intestines (colon, ) and the – see diagram. problems. In some of the conditions, problems will develop slowly and may not be picked up by parents or health professionals for some time.

mouth 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.

esophagus Children with Down’s syndrome may get any of the problems that occur in other children. If a child with Down’s syndrome does seem diaphragm to have a problem relating to the gastrointestinal tract it is important liver that they have a medical assessment which takes into account both pancreas the common conditions that may affect any child as well as those gallbladder transverse colon that particularly affect children with Down’s syndrome. duodenum descending colon In this article I am only going to describe some of the problems ascending colon jejunum that are more common in Down’s syndrome. sigmoid colon ileum The article was written for parents for the Down’s Syndrome rectum Association newsletter and is reproduced in this booklet with the anus permission of the author and the DSA 1 2

Symptoms of Diarrhoea This is when there is frequent passage The important thing is to notice if there gastrointestinal disorders of loose stools. It is impossible to specify is a significant change from the child’s how loose, or how often is abnormal, normal pattern that lasts more than a as every person is different. few days.

Many infants and toddlers (and some Sometimes stools may be particularly adults) will pass several loose stools bulky, foul smelling or look frothy or everyday as their normal pattern. There greasy. This may be a sign that will also be normal healthy variation something is not being absorbed depending on what we eat and drink. properly in the diet.

Constipation

Most people get constipated from time is a common problem in to time. Again it is impossible to say what Down’s syndrome, and in most cases is the normal frequency for passing stools it won’t be due to underlying disease. Problems arising within the gastrointestinal tract may cause a number of as there is a lot of variation in healthy It may be due to a combination of low different symptoms. people. Some people open their bowels muscle tone, poor mobility, diet and several times a day and others only once inadequate fluid intake. Vomiting or twice a week. It is the change from their usual pattern that may be important. Giving extra fluid, fruit and cereals All children vomit from time to time. In travelling, or if they are very upset or may solve the problem, or it may be babies this may just be a small amount excited. In these situations the vomiting Very hard stools can be a problem necessary for the doctor to prescribe of undigested milk that is brought back is usually short lived and goes away in themselves as they can be painful a stool softening laxative. If constipation after a feed, sometimes with wind. This when the underlying problem is to pass and cause a small amount of is severe or persists despite these is called posseting and is not usually a resolved. If vomiting is severe, frequent bleeding on the way out. Sometimes measures, then other causes should sign of underlying disease. It can often (i.e. more than a few times a day) or constipation is not identified because be considered. Underactivity of the be helped by careful attention to feeding prolonged (lasting more than a few the child is continuing to pass small thyroid gland (hypothyroidism) can technique, avoiding taking in too much days) you should seek the advice of amounts of liquid stools. This happens cause constipation and is more common air and keeping the baby upright after a doctor. Other signs that the problem when hard dry stool is retained in the in Down’s syndrome. A blood test can feeds for about half an hour. Children may is more serious include bile stained rectum, while small amounts of liquid be done to check on this. also vomit when they have a generalised vomit, or blood in the vomit. (This may stool seep around the sides, often illness – eg flu, chicken-pox or other look dark brown or like coffee grounds resulting in soiling. This is called Hirschprung’s disease also causes viruses – , ear or urine infections, when mixed in the vomit.) constipation with overflow. constipation and is discussed on page 7. 3 4 Pain Structural Children often complain of tummy ache. if it persists, is associated with other In many cases it is nothing to do with symptoms such as vomiting, or if severe. problems the gastrointestinal tract but is a general symptom of being unwell, or it may Pain may also be related to the Around 10% of children born with Not all the problems that occur are be the child’s way of explaining a pain oesophagus (heartburn or indigestion). Down’s syndrome will have one of discussed, but these are a few of the elsewhere in the body. It may also be This is likely to be due to reflux (see these problems. main examples. a symptom of anxiety. Most tummy page 9). aches disappear after a few hours and a few cuddles! It is most likely to occur in babies Small bowel obstruction who are unable to tell us they are in It is often caused by constipation and pain, so is always worth thinking about This is where there is obstruction to obstruction may not present so may be relieved by opening the bowels. in a baby who seems in discomfort, the small bowel so that food cannot dramatically, though vomiting is still Advice should be sought from a doctor especially after feeds. pass from the stomach to the large likely to be the main problem. bowel. This can be complete, where part of the bowel has failed to form Poor weight gain at all (duodenal or jejunal atresia) or partial, where the bowel has formed This can be a symptom of many weight or height measurements for but is narrower than it should be childhood disorders. It is often associated that child. with gastrointestinal problems. (duodenal stenosis).

The other symptoms above may not A similar problem can occur with be very serious, but should always be . The pancreas considered more seriously if associated should normally lie behind the lower with poor weight gain, or weight loss. part of the stomach and the first part of the small bowel. In this condition Diagnosis will generally be made by Children with Down’s syndrome do the pancreas encircles the duodenum X-ray. Treatment is usually surgical. This grow slowly when compared with other causing narrowing or blockage. involves removing the blocked part of children. There are now charts available the bowel and then joining it up again. specifically for children with Down’s When the blockage is severe, it may syndrome. Like all children there is be detectable before birth on an It is a major surgical procedure, but considerable variation in size and ultrasound scan. If not detected before without this treatment most babies will weight so a child’s actual weight is birth problems will present in the first not survive. In a minority of milder cases not as important as the rate of weight few hours or days of life with vomiting the problem can be managed without gain or the comparison with previous or failure to pass stools. Less severe by manipulating the diet. 5 6 Abnormalities of the anus Problems Sometimes babies are born without Less severe problems occur when the an anal opening (Imperforate anus). anal opening is narrower than usual of function This is not common but occurs more (anal stenosis). often in Down’s syndrome. This will be noticed at birth and usually requires This is likely to cause constipation. The Feeding difficulties immediate action. The extent of corrective opening can sometimes be stretched surgery will depend on how severe under anaesthetic but severe cases Babies with Down’s syndrome quite This is a small, flexible tube that is the abnormality is. may still require surgery. commonly have difficulties with feeding, passed into the nostril, down the particularly if they are born prematurely. oesophagus and into the stomach. This is usually only necessary for Hirschprung’s disease This may be due to their generally low a short time. muscle tone and difficulties coordinating Again this is a relatively rare condition missed. It is important to consider sucking and swallowing. It may also be that is more common in Down’s syndrome the possibility of short segment due to other medical problems. (approximately 2% of children with Hirschprung’s in any child whose Down’s syndrome). It is an abnormality constipation persists despite dietary For instance babies with problems of the lower part of the large bowel, measures and simple laxatives. may tire easily, or be short of breath whereby part of the bowel wall has and not able to feed adequately. nerve cells missing. Diagnosis is made by a combination of medical examination, X-ray and There are a whole number of things This means it cannot do its normal biopsy of the bowel. that may help including different ways work of pushing stools along to the of positioning during feeds, ‘tricks” anus. Sometimes a long segment of Treatment usually involves surgery to help stimulate the baby’s mouth bowel wall is affected. In this case it to remove the abnormal part of the movements, and, in bottle fed babies, may be obvious in the newborn period bowel. Sometimes it is necessary to trying different teats, bottles or other because the baby does not pass let the remaining lower part of the equipment. any stools. bowel ‘rest’ by using a . This is where the upper end of the Health visitors, specialist nurses and More often these babies have chronic remaining bowel is temporarily speech and language therapists are constipation, poor weight gain, vomiting attached to an opening or stoma in able to provide this sort of advice. and a swollen abdomen. If however the abdominal wall, through which only a short part of the bowel is involved stools are passed into a bag. Once Sometimes the baby is not able to feed (short segment Hirschprung’s disease) the bowels have healed up, usually adequately despite these measures symptoms are less severe. It is in these several months, they can be joined and it is necessary to feed the baby children that the diagnosis may be easily up again. via a nasogastric tube for a while. 7 8 Gastro-oesophageal reflux Malabsorption

This occurs when food that has already Symptoms may be very mild and merely This is a condition in which the bowels In this booklet I have considered some passed into the stomach and beyond a nuisance. Simple measures mentioned are unable to absorb particular nutrients of the gastrointestinal problems that comes back up into the oesophagus previously may help. However, vomiting from food. This can cause the body to occur in Down’s syndrome. Many and may be vomited up. may be considerable and the child run short of some nutrients, and the children will, happily, have none of may not gain weight. Also the acid stools to be abnormal. these problems. Some will have one Most healthy people experience this contents of the stomach irritate the and an unfortunate minority will have from time to time. It is more common lower oesophagus causing discomfort, Possible malabsorption of a number several at various times in their life. in babies because: their food is liquid and sometimes bleeding from the of different vitamins and minerals has and therefore more easily brought oesophageal wall. This can cause been described in Down’s syndrome As stated early on in the booklet, back; they spend less of their time anaemia. In these cases medical from time to time. However the evidence children with Down’s syndrome may upright; the muscle at the top of the treatment is necessary. Several different for this is inconsistent and whether the also get any of the problems that occur stomach that should prevent this is kinds of medicine are used, often in malabsorption leads to any health in other children. As in all medical not yet well established. Some also combination. They work in a number problems is uncertain. There is, however, conditions, the symptoms should never have a hiatus hernia where the top part of ways – by preventing the stomach one important type of malabsorption be accepted as “just part of Down’s of the stomach is pushed just above contents flowing back, by neutralising that is more common in Down’s syndrome syndrome,” without first considering the diaphragm into the chest. Babies the stomach acid and by improving the called Coeliac Disease. In this, the body other, treatable, conditions. with Down’s syndrome are more likely gastrointestinal motility. Very occasionally develops an allergy to part of a protein to have reflux, probably because the these measures won’t be sufficient called gluten, which is found in wheat Dr. Liz Marder, muscles of the stomach and oesophagus and an operation to tighten up the and some other cereal grains. Symptoms Consultant Community Paediatrician that work to push food along seem junction between the oesophagus include poor growth, abnormal stools and Medical Advisor to the DSA. to work less effectively. and stomach will be necessary. (diarrhoea, frothy, foul smelling or bulky August 1996 stools are typical), swollen stomach, tiredness and irritability. Anaemia may Revised & Published 2008 by the Down’s also result. Syndrome Association.

Special blood tests are available which may help with diagnosis, but a jejunal biopsy may he necessary. In this test a small tube is swallowed, and a sample of the wall of the jejunum is removed for examination under a microscope.

Treatment is by special diet excluding gluten. This should he supervised by a dietitian. 9 10