Gastroenterology
Feeding problems
Early muscle weakness (hypotonia) in infants with PTHS may lead to feeding problems. Typically, the new-born feeding is closely monitored and if needed the paediatrician will offer advice how to deal with these for each child. This is done like in any new-born with feeding problems. Generally, the problems sort themselves out as the children 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, may occur, but in general those with PTHS are described as excellent eaters.
Digestion problems
Digestion problems are common in children and adults with PTHS. Constipation occurs in the majority of children. In adults it occurs a bit less, but still frequently. Gastroesophageal reflux disease occurs in about 40% of PTHS children and adults, and burping occurs in a third of them. Hyperbreathing can lead to swallowing air into the stomach causing lots of discomfort as the stomach swells and lots of 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 gastrostomy to let air escape a few times a day which fixed her problems, and we have a similar good experience in some others as well. When the swelling of the stomach is causing problems in a child or adult this should be considered.
The 47 attending the World Congress did not seem to show more food intolerance than would be expected in the general population. Other gut problems include pyloric stenosis and malrotation, but are not common. They can be treated in the same way as in children and adults without PTHS.
Reflux
The treatment for gastroesophageal reflux is similar to that of the general population. The first thing to try is the 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 to keep everything well (R10).
Constipation
Many with PTHS have severe constipation all their lives. Hirschsprung Disease (when nerves are missing in parts of the intestine), is causing very severe constipation and has been associated with PTHS but it is very rare and has only been seen in one child with PTHS. It may well be this should be explained by coincidence. A study with mice that had a TCF4 deletion similar to those with a deletion in a human showed slower movement from the mouth down to the beginning of the large intestines and from end of the large intestines. 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 (R8). (Toilet timing eg regular toilet sitting for a set period after every meal and using positive reinforcement through a reward system is also helpful. Effective control of constipation includes using constipation diaries, the Bristol stool form scale, and the section C of the Questionnaire on Paediatric Gastrointestinal Symptoms and seeing a doctor when necessary (QPGS) (R9).
Recommendations
R8 Constipation, both chronic and occasional can often occur in individuals with PTHS and should be monitored and assessed. This can be done by keeping a diary or by using a dedicated questionnaire.
R9 Treatment for constipation will follow the same treatment that would be given to anyone else. This might include some behavioural modification strategies.
R10 If the PTHS individual encounters problems with reflux, again the treatment will not differ from any other person. Sometimes anti-reflux medications will be prescribed and should be used to their maximum dosage.
