Digestive problems: feeding, reflux and constipation

Digestion problems are common in children and adults with PTHS.


When a baby with PTHS has muscle weakness (known as hypotonia) it can lead to feeding problems. Typically, paediatricians will closely monitor the newborn’s feeding and if needed will offer advice how to deal with any problems. This is the same as for any newborn baby with feeding problems. 

Generally the problems sort themselves out as children with PTHS get older. Feeding difficulties at a later age, such as gagging, refusing to eat, and only eating at a certain time or place, or a certain type of food, can happen. But in general those with PTHS are described as excellent eaters.


Most children with PTHS have constipation. In adults it occurs a bit less, but still frequently. Many with PTHS have severe constipation all their lives. Hirschsprung Disease (when nerves are missing in parts of the intestine), causes very severe constipation and has been associated with PTHS. However this is very rare – it has only been seen in one child with PTHS – and so it could be a coincidence. 

A study with mice that had a deletion of the TCF4 gene similar to that in a human showed slower movement from the mouth down to the beginning of the large intestine and from the end of the large intestine. There is not much data on the speed of food going through the bowel in humans. 

The treatment for constipation is similar as for the general population. Regularly sitting on the toilet for a set period after every meal and using positive reinforcement through a reward system is also helpful. Effective control of constipation includes keeping constipation diaries, the Bristol stool form scale, and filling in a dedicated questionnaire for children (section C of the Questionnaire on Paediatric Gastrointestinal Symptoms). Children or adults should see a doctor when necessary.


About 40% of PTHS children and adults experience acid flowing back from the stomach into the oesophagus, the tube leading from the stomach to the mouth (gastroesophageal reflux disease.) A third of them experience excessive burping. 

The treatment for reflux is similar to that of the general population. The first thing to try is a medicine that reduces acid in the stomach (proton pump inhibitor). People with PTHS respond well to these if the medication is given in high enough doses (omeprazole 0.7-3.5 mg/kg/day).

Episodes of breathing fast can lead to swallowing air. This causes the stomach to swell, leading to discomfort and burping. This was the case for just under half of those present at the World Congress in 2018. 

One child had this so badly that she had had a tube inserted into her stomach via a small opening (gastrostomy) to let air escape a few times a day. This fixed her problems, and we have a similar positive experience in some others as well. Health care professionals should consider a gastrostomy if the swelling of the stomach is causing problems in a child or adult.

The 47 individuals with PTHS who attended the World Congress did not seem to show more food intolerance than would be expected in the general population. 

Other gut problems include a narrowing of the opening of the stomach to the first part of the intestine (pyloric stenosis) and a twisted gut (malrotation), but these are not common. They can be treated in the same way as in children and adults without PTHS.


8/ Children and adults with PTHS often experience occasional or chronic constipation and should be monitored and assessed. This can be done by keeping a diary or by using a dedicated questionnaire.

9/ Treatment for constipation will follow the same treatment that would be given to anyone else. This might include some strategies to change behaviour.

10/ If someone with PTHS has problems with reflux, the treatment will not differ from any other person. Anti-reflux medications can sometimes help but usually need prescribing in their maximum dosage.

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