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Updated: Mar 9, 2026

Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model
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Incontinence in persons with Angelman syndrome.

C Wagner1, J Niemczyk2, M Equit2

  • 1Department of Child and Adolescent Psychiatry, Saarland University Hospital, 66421, Homburg, Germany. catharina.wagner@uks.eu.

European Journal of Pediatrics
|December 22, 2016
PubMed
Summary

Angelman syndrome (AS) significantly impacts individuals, with over 85% experiencing incontinence subtypes like nocturnal enuresis and daytime urinary incontinence. Early screening and treatment for incontinence in AS patients are crucial for improved quality of life.

Keywords:
Angelman syndromeBehaviorDaytime urinary incontinenceDevelopmental Behaviour ChecklistFecal incontinenceNocturnal enuresis

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Angelman syndrome (AS) is a rare genetic disorder affecting neurological development.
  • Individuals with AS often present with severe intellectual disability, developmental delays, and behavioral challenges.
  • Incontinence is a recognized but understudied issue in the AS population.

Purpose of the Study:

  • To determine the prevalence of various incontinence subtypes in children and adults with Angelman syndrome.
  • To explore the association between incontinence and psychological problems in individuals with AS.
  • To investigate the relationship between incontinence, genotype, and epilepsy in AS patients.

Main Methods:

  • A cohort of 90 children and 54 adults with AS was recruited.
  • Validated questionnaires assessed incontinence (enuresis, urinary, fecal) and behavioral issues.
  • Data were analyzed to identify prevalence rates and associated factors.

Main Results:

  • A high prevalence of incontinence was observed, affecting 85.6% of participants.
  • Nocturnal enuresis (82.7%), daytime urinary incontinence (64.7%), and fecal incontinence (57.1%) were common.
  • Incontinence was not linked to behavioral problems but showed associations with genotype and epilepsy.

Conclusions:

  • Incontinence is highly prevalent across all age groups in Angelman syndrome.
  • Epilepsy and specific genotypes are significantly associated with nocturnal and daytime urinary incontinence.
  • Screening, assessment, and management of incontinence are recommended for individuals with AS.