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 (P = 0.01) and higher nonverbal mental age (P = 0.03) compared with incontinent participants.

Conclusions: Incontinence is common in PMS and associated with intellectual functioning and gene deletion size. Management strategies may differ based on the presence of nonretentive fecal incontinence, functional constipation, and degree of intellectual disability for children with PMS.

Trial registration: ClinicalTrials.gov NCT01778504.

Conflict of interest statement

Conflict of interest:

The authors have no conflicts of interest relevant to this article to disclose. For the primary author, salary funding was provided by the United States Department of Defense. The views expressed in this work are those of the authors and do not necessarily reflect the official policy or position of the United States Air Force, the United States Army, the Department of Defense, or the U.S. Government. Title 17 U.S.C. 101 defines a United States Government work as ‘a work prepared by a military service member or employee of the United States Government as part of that person’s official duties.’ This work was prepared as part of the official duties of the authors.

Figures

Figure 1.

Continent subjects (light grey circles) and incontinent subjects (black circles) plotted by gene deletion size in Mb and Non-Verbal Mental Age (NVMA). Mean values differed between groups for both deletion size (p=0.01) and NVMA (p=0.03) and are represented by squares with error bars on the corresponding axes. .