Incontinence in Phelan-McDermid Syndrome.

ABSTRACT:

Objective

The aim of the study was to evaluate gastrointestinal symptoms and continence in the context of Phelan-McDermid Syndrome (PMS).

Methods

A prospective evaluation of children with PMS (n = 17) at the National Institutes of Health.

Results

Parent-reported history of symptoms were common: constipation (65%), reflux (59%), choking/gagging (41%), and more than half received gastrointestinal specialty care. No aspiration was noted in 11/11 participants who completed modified barium swallows. Four participants met criteria for functional constipation, 2 of whom had abnormal colonic transit studies. Stool incontinence was highly prevalent (13/17) with nonretentive features present in 12/17. Participants who were continent had significantly smaller genetic deletions (

SUBMITTER: Witmer C 

PROVIDER: S-EPMC6658348 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature