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Incontinence and psychological symptoms in Phelan-McDermid syndrome
- Source :
- Neurourology and Urodynamics, 39(1), 310-318. Wiley
- Publication Year :
- 2019
-
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.
- Subjects :
- Adult
Male
Parents
Pediatrics
medicine.medical_specialty
Adolescent
Urology
Chromosomes, Human, Pair 22
030232 urology & nephrology
Urinary incontinence
CHILDREN
Chromosome Disorders
03 medical and health sciences
Young Adult
0302 clinical medicine
Enuresis
Surveys and Questionnaires
medicine
Prevalence
Fecal incontinence
Humans
Child
Depression (differential diagnoses)
030219 obstetrics & reproductive medicine
business.industry
Functional incontinence
DELETION SYNDROME
Phelan���McDermid syndrome
Middle Aged
psychopathology
Urinary Incontinence
enuresis
Child, Preschool
Toileting
Anxiety
Phelan-McDermid syndrome
Female
Neurology (clinical)
medicine.symptom
Chromosome Deletion
business
Fecal Incontinence
Psychopathology
Subjects
Details
- ISSN :
- 15206777 and 07332467
- Volume :
- 39
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Neurourology and urodynamicsREFERENCES
- Accession number :
- edsair.doi.dedup.....0c4790d9ac81ec5f950480aa4bd6a714