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Incontinence in Phelan-McDermid Syndrome

Witmer, Claire*,†; Mattingly, Aviva; D'Souza, Precilla; Thurm, Audrey; Hadigan, Colleen

Journal of Pediatric Gastroenterology and Nutrition: August 2019 - Volume 69 - Issue 2 - p e39–e42
doi: 10.1097/MPG.0000000000002342
Short Communication: Gastroenterology

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.

*Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Walter Reed National Military Medical Center

Laboratory of Immunoregulation, National Institute of Allergy and Infectious Disease, National Institutes of Health

Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD.

Address correspondence and reprint requests to Colleen Hadigan, MD, Laboratory of Immunoregulation, National Institute of Allergy and Infectious Disease, National Institutes of Health, 10 Center Street, 11C103, Bethesda, MD 20892 (e-mail:

Received 29 October, 2018

Accepted 4 March, 2019

Supplemental digital content is available for this article. Direct URL citations appear in the printed text, and links to the digital files are provided in the HTML text of this article on the journal's Web site (

This work was supported in part by the Intramural Research Program (1ZIAMH002868 and 1ZICMH002961) of the National Institutes of Mental Health (NCT01778504) as well as by the Intramural Research Program of National Institute of Allergy and Infectious Diseases.

The authors have no conflicts of interest relevant to this article to disclose. The views expressed in this manuscript are those of the author and do not reflect the official policy of the Department of Army/Navy/Air Force, Department of Defense, or U.S. Government.

© 2019 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,