Incontinence in persons with Angelman syndrome

Abstract

Angelman syndrome (AS) is a congenital syndrome with a prevalence of 1:15,000. Individuals with AS often have severe intellectual disability, typical dysmorphic signs, and behavioral problems. The aim of the study was to investigate the rate of incontinence and associated psychological problems in children and adults with AS. Ninety children (4–18 years) and 54 adults (18–31 years) with AS were recruited through a parent support group (55.6% male, mean age 15.1 years). The Parental Questionnaire: Enuresis/Urinary Incontinence, the Incontinence Questionnaire-Pediatric Lower Urinary Tract Symptoms (ICIQ-CLUTS), as well as the Developmental Behaviour Checklist for parents (DBC-P) or for adults (DBC-A) were filled out by parents or caregivers. 85.6% of individuals with AS were affected by at least one subtype of incontinence (82.7% nocturnal enuresis (NE), 64.7% daytime urinary incontinence (DUI), and 57.1% fecal incontinence (FI)). 52.5% of the children and 32.6% of adults reached a clinically relevant DBC score. Incontinence was not associated with behavioral problems. NE and DUI were associated with genotype and epilepsy.

Conclusion: Children with AS have high rates of incontinence. Many adults are still affected by NE, DUI, or even FI. Screening, assessment, and treatment of incontinence in individuals with AS are recommended.

What is Known:
Incontinence in persons with Angelman syndrome (AS) is associated with younger age, lower level of adaptive functioning, and epilepsy.
What is New:
Children and teens with AS are at special risk for incontinence, but older persons are also affected.
Comorbid epilepsy is significantly associated not only with nocturnal enuresis (NE) but also with daytime urinary incontinence (DUI). Underlying genotype is significantly associated with incontinence.

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Abbreviations

AS:

Angelman syndrome

ID:

Intellectual disability

ICIQ-CLUTS:

International Consultation on Incontinence Questionnaire–Pediatric Lower Urinary Tract Symptom

LUTS:

Lower urinary tract symptoms

DBC:

Developmental Behaviour Checklist

NE:

Nocturnal enuresis

DUI:

Daytime urinary incontinence

FI:

Fecal incontinence

ICCS:

International Children’s Continence Society

UPD:

Uniparental disomy

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Acknowledgements

We would like to thank the German support group Angelman e.V. Deutschland for giving us the opportunity to cooperate and conduct this study with help of the members of the support group.

Authors’ Contributions

Wagner, Catharina*: Data collection, protocol/project development, data management, data analysis, and manuscript writing/editing.

Niemczyk, Justine*: Data collection, protocol/project development, data management, data analysis, and manuscript writing/editing.

Equit, Monika: Protocol/project development, data analysis, and manuscript writing/editing.

Curfs, Leopold: Protocol/project development and manuscript editing.

von Gontard, Alexander: Protocol/project development, data management, and manuscript writing/editing.

*Equal contribution.

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Correspondence to C Wagner.

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The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Additional information

Revisions received: 14 October 2016; 08 December 2016

Communicated by Mario Bianchetti

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Wagner, C., Niemczyk, J., Equit, M. et al. Incontinence in persons with Angelman syndrome. Eur J Pediatr 176, 225–232 (2017). https://doi.org/10.1007/s00431-016-2828-1

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Keywords

  • Angelman syndrome
  • Nocturnal enuresis
  • Daytime urinary incontinence
  • Fecal incontinence
  • Behavior
  • Developmental Behaviour Checklist