ABSTRACT
AIMS: Williams Syndrome (WS) is a microdeletion syndrome (chromosome 7q11.23) characterized by typical facial features, cardiovascular disease, behavioural symptoms, and mild intellectual disability (ID). The aim of this study was to assess the rates of incontinence and psychological problems in persons with WS. METHODS: 231 individuals with WS were recruited through the German parent support group (52.0% male, mean age 19.4 years). Faecal incontinence (FI) was diagnosed from the age of 4 years and nocturnal enuresis (NE) and daytime urinary incontinence (DUI) of 5 years onwards. The Parental Questionnaire: Enuresis/Urinary Incontinence, the International-Consultation-on-Incontinence-Questionnaire-Pediatric LUTS (ICIQ-CLUTS), as well as the Developmental Behavior Checklist for parents (DBC-P) or for adults (DBC-A) were filled out by parents or caregivers. RESULTS: 17.8% of the sample had NE, 5.9% DUI and 7.6% FI. NE was present in 44.9% of children (4-12 years), 13.5% of teens (13-17y), 3.3% of young adults (18-30y) and in 3.6% of adults (> 30y). DUI (and FI) decreased from 17.9% (21.4%) in children to 0% in adults. 3.5% of the sample had an ICIQ-CLUTS score in the clinical range. 30.5% of children and 22.1% of adults had a clinical DBC score. Children and teens with clinically relevant DBC-P-scores had significantly higher DUI rates. CONCLUSIONS: Children with WS have high rates of incontinence and LUTS, which decrease with age. Most adults are continent. NE is the most common subtype. Except for DUI in children, incontinence is not associated with behavioural problems. Screening, assessment and treatment of incontinence in individuals with WS is recommended. Neurourol. Urodynam. 35:1000-1005, 2016. © 2015 Wiley Periodicals, Inc.
Subject(s)
Fecal Incontinence/etiology , Urinary Incontinence/etiology , Williams Syndrome/complications , Adolescent , Adult , Age Factors , Child , Child Behavior Disorders/complications , Child Behavior Disorders/etiology , Child Behavior Disorders/psychology , Child, Preschool , Constipation/epidemiology , Constipation/etiology , Fecal Incontinence/epidemiology , Fecal Incontinence/psychology , Female , Humans , Male , Nocturnal Enuresis/etiology , Nocturnal Enuresis/psychology , Parents , Prevalence , Surveys and Questionnaires , Urinary Incontinence/epidemiology , Urinary Incontinence/psychology , Williams Syndrome/epidemiology , Williams Syndrome/psychology , Young AdultABSTRACT
OBJECTIVE: Noonan Syndrome (NS) is an autosomal neurodevelopmental disorder with a high phenotypic variability. Mutations in several genes of the RASMAPK signaling pathways are now known to be responsible for NS. Most of the children with NS are of average intelligence, one-third have a mild intellectual disability (ID) (IQ 50-79). So far, no studies have assessed incontinence in persons with NS. The aim of this study therefore was to investigate the prevalence of incontinence and psychological problems in persons with NS. SUBJECTS AND METHODS: Nineteen children (5-17 years) and 10 adults (18-48 years) with NS were recruited through a German parent support group (58.6% male, mean age 15.26 years). The "Parental Questionnaire: Enuresis/Urinary Incontinence", "Encopresis Questionnaire - Screening Version" and the German version of the International Consultation on Incontinence Questionnaire - Pediatric Lower Urinary Tract Symptom (ICIQ-CLUTS) were completed by parents or caregivers to assess incontinence and lower urinary tract symptoms (LUTS). The Developmental Behavior Checklist for parents (DBC-P) or the Developmental Behavior Checklist for adults (DBC-A) were filled out to assess psychological symptoms. RESULTS: In total, 27.3% of the children (4-12 years) had nocturnal enuresis (NE), 36.4% had daytime urinary incontinence (DUI), and 11.1% had fecal incontinence (FI). Only one adolescent (13-17 years) had NE (14.3%) and one young adult (18-30 years) had FI (11.1%); 36.4% of the children, 33.3% of the adolescents and 12.5% of young adults had a DBC score in the clinical range. No adult (>30 years) had incontinence or a critical DBC score. Children and adolescents with NE had significantly higher scores in the DBC total score as well in the "self-absorbed" and "social relating" subscales than continent children and adolescents, whereas no significant difference was found between children and adolescents with DUI compared with the continent group. CONCLUSIONS: A significant proportion of children with NS are affected by incontinence. Incontinence is a relevant problem in children and adolescents with NS, but does not persist into adulthood. In particular, psychological problems are present in children and adolescents with NE. Screening for both incontinence and psychological symptoms are recommended in children with NS. As most of the children with NS have average intelligence or a mild ID, they can be treated effectively with standard methods.
