Incontinence in Phelan-McDermid Syndrome

Area of Science:

• Pediatric Gastroenterology
• Genetics
• Neurodevelopmental Disorders

Background:

• Phelan-McDermid Syndrome (PMS) is a rare genetic disorder.
• Gastrointestinal (GI) symptoms and continence issues are frequently reported in individuals with PMS.
• Understanding these challenges is crucial for effective patient management.

Purpose of the Study:

• To evaluate the prevalence and characteristics of gastrointestinal symptoms in children with PMS.
• To assess continence status and associated factors in this population.
• To inform clinical management strategies for GI dysfunction in PMS.

Main Methods:

• Prospective evaluation of 17 children diagnosed with Phelan-McDermid Syndrome.
• Utilized parent-reported symptom history, including constipation, reflux, and choking/gagging.
• Included modified barium swallows and colonic transit studies for relevant participants.

Main Results:

• High prevalence of GI symptoms: constipation (65%), reflux (59%), choking/gagging (41%).
• Stool incontinence affected 13 out of 17 participants, often with nonretentive features.
• Continence was associated with smaller genetic deletion size (P=0.01) and higher nonverbal mental age (P=0.03).

Conclusions:

• Incontinence is a significant issue in PMS, linked to intellectual functioning and genetic deletion size.
• Management should consider nonretentive fecal incontinence, functional constipation, and intellectual disability.
• Tailored approaches are necessary for addressing GI symptoms and continence in children with PMS.