To evaluate gastrointestinal symptoms and continence in the context of Phelan-McDermid Syndrome (PMS).
A prospective evaluation of children with PMS (n = 17) at the National Institutes of Health.
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 non-retentive 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 to incontinent participants.
Incontinence is common in PMS and associated with intellectual functioning and gene deletion size. Management strategies may differ based on the presence of non-retentive 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, Bethesda, MD, 20889, USA
†Laboratory of Immunoregulation, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD, 20892, USA
‡Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA.
Address correspondence and reprint requests to Colleen Hadigan, National Institutes of Health, 10 Center Street, 11C103, Bethesda, MD 20892 (e-mail: firstname.lastname@example.org).
Received 29 October, 2018
Accepted 4 March, 2019
Contributors Statement: Dr. Witmer analyzed and interpreted the data, drafted the manuscript, and approved the final manuscript as submitted.
Ms. Mattingly collected the data, analyzed and interpreted the results, critically reviewed and revised the manuscript, and approved the final manuscript as submitted.
Dr. Thurm conceptualized and designed the study, performed the neurocognitive testing, and analyzed and interpreted the results. She has reviewed and revised the manuscript, and approved the final manuscript as submitted.
Mrs. D'Souza assisted with the clinical data collection interpretation. She has reviewed and revised the manuscript, and approved the final manuscript as submitted.
Dr. Hadigan performed the Pediatric Gastrointestinal evaluations of each subject, conceptualized and designed the study, assisted with data analysis and interpretation, critically reviewed and revised the manuscript, and approved the final manuscript as submitted.
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Sources of Funding: This work was supported in part by the Intramural Research Program (1ZIAMH002868) of the National Institutes of Mental Health (NCT01778504) as well as by the Intramural Research Program of National Institute of Allergy and Infectious Diseases. https://clinicaltrials.gov/ct2/show/NCT01778504?term=NCT01778504&rank=1
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.