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• W1641873459 abstract "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.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.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.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." @default.
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• W1641873459 date "2015-08-01" @default.
• W1641873459 modified "2023-09-27" @default.
• W1641873459 title "Incontinence in persons with Noonan Syndrome" @default.
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• W1641873459 doi "https://doi.org/10.1016/j.jpurol.2015.06.002" @default.
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