Rubinstein-Taybi Syndrome: Gastroenterology | Cincinnati Children's

Rubinstein-Taybi Syndrome:Gastroenterology
Ajay Kaul, MD, Director, Neurogastroenterology and Motility Disorders Center: "Some of the common gastrointestinal problems we see in children with RTS are reflux, are feeding disorders and constipation. And of course, we have the other conditions that are seen in other neurotypical kids as well that we shouldn’t forget."
Mary Jackson, Mia’s mom: "She was just a very happy sweet baby. She had some digestive problems, but she would really just try to work around everything that she had wrong with her. She did have an issue with swallowing."
Dr. Kaul: "Feeding disorders are pretty common in children with RTS, especially in younger age group when they’re newborns and within the first couple years, and that’s primarily because of hypotonia. The upper GI track the upper part of the esophagus the pharynx and the back of the throat are all skeletal muscles, so that part is affected as well."
Jackson: "She could projectile vomit whatever she just drank about 4 feet across the room."
Dr. Kaul: "If the vomiting is bilious, or green, that adds another layer of seriousness to the situation, and those are typically seen in kids that have malrotated intestines or obstructed intestines and they need more urgent medical care."
Jackson: "And then we felt really bad for her, too, because sometimes she would aspirate. But thank goodness on how she avoided having any major issues."
Dr. Kaul: "When you swallow, instead of going down into the esophagus, the swallowing tube, they tend to leak into the airways and that’s called aspiration. When these kids have aspiration that’s a kind of serious complication of children that have feeding disorders and that should be really picked up early if it’s occurring."
Jillian Stockberger, Rhett’s mom: "He’s definitely got an oral aversion, he had some bad reflux as an infant and all of that and he just, he could live off of PediaSure, and he does."
Dr. Kaul: "When the feeding disorder is pretty severe and they tend to start losing weight and are not able to sustain themselves or their weight with what they’re taking by mouth, that’s the time that they should be referred to a gastroenterologist for consideration for a G-Tube or a feeding tube. Over time, we tend to see that oral motor skills and the hypotonia gets a little better as the kids get older and that they start to take food by mouth as well and are able to start to sustain their weight just by eating by mouth. So we gradually decrease their formula or food that we’re giving through the G-Tube and eventually get the G-Tube out."
Christopher Edelenbos, parent: "She had feeding issues, so they put a G-Tube in. She’s had a lot of issues with constipation so we’ve worked with him on that."
Dr. Kaul: "Constipation typically starts during their infancy and early childhood and continues through their adulthood. Early detection is what I’d like to stress and adequate treatment. There are two primary types of laxatives, one are osmotic laxatives that cause the stools to be softer and retain fluid, and the other are stimulant laxatives that actually cause contractions of the rectum and the colon - and often times we have to use adequate doses of both of those types of laxatives to result in a stool or a bowel movement every day."
Dr. Kaul: "So gastroesophageal reflux is pretty common in kids with RTS, and again, it has to do with hypotonia. A lot of the kids with RTS has a low tone of the lower esophageal sphincter, which allows the stomach contents to come up into the esophagus. If it seems like it’s bothering them, then you can try some acid suppressant mediations, you can try H2 blockers like Ranitidine or you can try proton pump inhibitors."
Jillian Stockberger, parent: "The first time they scoped him he definitely had a lot of eosinophils. But once we put him on reflux medicine it resolved so he doesn’t actually have EOE they call it."
Dr. Kaul: "They often need repeated scoping to see whether or not the eosiniphilic esophagitis is under control or not. As far as follow-up visits for patients with RTS is concerned, it really depends on what condition they’re being followed for by the GI specialist and how severe the condition is. Once they are in a stable condition, then they can be seen once every 6 months to every year. But if the problem is really not completely resolved and the physicians are still trying to get the right management for that problem, then you may need to see the gastroenterologist or the specialist much more frequently."
Joan and Christopher Edelenbos, parents - Christopher: "I would say the last probably 6 or 7 years she really, it’s only mainly just check-ups so we’ve been very fortunate." Joan: "Yeah."