Please use this identifier to cite or link to this item: doi:10.22028/D291-35359
Title: Incontinence and psychological symptoms in Phelan-McDermid syndrome
Author(s): Hussong, Justine
Wagner, Catharina
Curfs, Leopold
von Gontard, Alexander
Language: English
Title: Neurourology and Urodynamics
Volume: 39
Issue: 1
Pages: 310–318
Publisher/Platform: Wiley
Year of Publication: 2019
Free key words: enuresis
fecal incontinence
Phelan‐McDermid syndrome
urinary incontinence
DDC notations: 610 Medicine and health
Publikation type: Journal Article
Abstract: Aims Phelan-McDermid syndrome (PMD) is a congenital syndrome caused by a deletion on chromosome 22q13.3. About 600 cases have been identified worldwide. PMD is characterized by neonatal hypotonia, moderate/severe intellectual impairment, impaired expressive language, and typical dysmorphic features. Psychological symptoms as hyperactivity, attention problems, restlessness, and stereotyped-repetitive behavior were reported. The aim of the study was to assess incontinence and associated psychological problems in PMD. Methods Forty-one individuals with PMD were recruited through a German support group (48.8% male; mean age 13.4 years; range, 4-55 years). Parents or caregivers completed the developmental behavior checklist (DBC), as well as the parental questionnaire: enuresis/urinary incontinence, including six questions on adaptive toileting skills. Results Rates of nocturnal enuresis (NE), daytime urinary incontinence, and fecal incontinence were 86%, 73%, and 79%. Rates were similar in all age groups (children, teens, adults). Constipation was present in 19%. Forty-two percent of the sample had a clinically relevant DBC score, with adults more affected than teens. Persons with NE had significantly higher “anxiety/depression” subscale scores. Toileting skills were more developed in adults than in children. Sixty-eight percent had further physical disabilities. Conclusions Incontinence rates in PMD are high in all age groups. However, persons with PMD can improve their toilet skills. Therefore, the assessment and treatment of incontinence in persons with PMD is recommended. Constipation does not seem to be a major problem in PMD. Due to the high prevalence rates of somatic conditions, an assessment for organic and functional incontinence is recommended.
DOI of the first publication: 10.1002/nau.24197
Link to this record: urn:nbn:de:bsz:291--ds-353594
ISSN: 1520-6777
Date of registration: 1-Feb-2022
Faculty: M - Medizinische Fakultät
Department: M - Neurologie und Psychiatrie
Professorship: M - Prof. Dr. Alexander von Gontard
Collections:SciDok - Der Wissenschaftsserver der Universität des Saarlandes

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