Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy
Male; Child; Humans; Adolescent; Female; Enuresis/etiology/physiopathology; Muscular Atrophy Spinal/complications/physiopathology; Nerve Degeneration/complications/physiopathology; Urinary Incontinence/etiology/physiopathology; urinary incontinence; SMA1; trajectory; characteristics
OBJECTIVE: To assess the rate and type of urinary incontinence in a large sample of children and adolescents with spinal muscular atrophy (SMA), a genetic disorder characterized by loss of motor function caused by anterior horn degeneration. PATIENTS, SUBJECTS AND METHODS: The study included 96 severely incapacitated patients with SMA (aged 6.0-18.11 years) who were examined in detail, including a structured interview (Kinder-DIPS), the Child Behaviour Checklist (CBCL) and a specific questionnaire for urinary incontinence. They were compared with two control groups of unaffected siblings and normal children. RESULTS: In all, 29% of the patients were wet at night and/or during the day; mostly younger children with SMA types I and II only were affected. The results of the interview were more reliable than the CBCL. The specific questionnaire revealed a variety of possible functional and neurogenic forms of wetting, including nocturnal enuresis, voiding postponement, dysfunctional voiding, stress, symptomatic (urinary tract infections, UTIs) and neurogenic incontinence. Many patients were constipated, soiled or had UTIs. The rate of behavioural problems was twice as high (32%) as normal (15%; CBCL). CONCLUSION: Children with SMA have a high rate of urinary incontinence which is often overlooked, and not diagnosed and treated adequately. These problems should be addressed routinely by paediatricians in children referred to paediatric urological specialists.
von Gontard A; Laufersweiler-Plass C; Backes M; Zerres K; Rudnik-Schoneborn S
BJU International
2001
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1046/j.1464-410x.2001.02341.x" target="_blank" rel="noreferrer noopener">10.1046/j.1464-410x.2001.02341.x</a>
Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome
children; Rehabilitation; Enuresis; Education & Educational Research; phenotype; features; urinary-incontinence; angelman-syndrome; Fecal incontinence; hirschsprungs-disease; Mowat-Wilson Syndrome; Psychopathology; Urinary incontinence; constipation; behavioral problems; bowel incontinence; trajectory; characteristics; fecal incontinence
Background: Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22. MWS is characterized by a distinctive facial appearance, severe intellectual disability and other anomalies, e.g. seizures and/or Hirschsprung disease (HSCR). Most individuals have a sociable demeanor, but one third show psychological problems. Aims: The aim was to investigate incontinence and psychological problems in MWS. Methods and procedures: 26 children (4-12 years), 13 teens (13-17 years) and 8 adults (>18 years) were recruited through a MWS support group. The Parental Questionnaire: Enuresis/Urinary Incontinence, as well as the Developmental Behaviour Checklist (DBC) were completed by parents or care-givers. Outcomes and results: 97.7% of persons with MWS had incontinence (nocturnal enuresis 74.4%; daytime urinary incontinence 76.2%; fecal incontinence 81.4%). Incontinence remained high over age groups (children 95.8%, teens 100%, adults 100%). 46.2% of children, 25% of teens and 37.5% of adults exceeded the clinical cut-off on the DBC. The ability to use the toilet for micturition improved with age. Conclusions and implications: MWS incontinence rates are very high. All had physical disabilities including anomalies of the genitourinary and gastrointestinal tract. Due to the high prevalence rates, a screening for incontinence and psychological problems in MWS is recommended. (C) 2017 Elsevier Ltd. All rights reserved.
Niemczyk J; Einfeld S; Mowat D; Equit M; Wagner C; Curfs L; von Gontard A
Research in Developmental Disabilities
2017
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.ridd.2017.01.006" target="_blank" rel="noreferrer noopener">10.1016/j.ridd.2017.01.006</a>
Incontinence in Individuals with Rett Syndrome: A Comparative Study
children; Rehabilitation; adolescents; epidemiology; disorders; Rett syndrome; behavioral-phenotype; Comparative study; enuresis; females; Incontinence; intellectual disability; mental-retardation; urinary incontinence; bowel incontinence; fecal incontinence; trajectory; characteristics; adaptive functioning
Frequency and type of incontinence and its association with other variables were assessed in females with Rett Syndrome (RS) ( = 63), using an adapted Dutch version of the 'Parental Questionnaire: Enuresis/Urinary Incontinence' (Beetz et al. 1994). Also, incontinence in RS was compared to a control group consisting of females with non-specific (mixed) intellectual disability ( = 26). Urinary incontinence (UI) (i.e., daytime incontinence and nocturnal enuresis) and faecal incontinence (FI) were found to be common problems among females with RS that occur in a high frequency of days/nights. UI and FI were mostly primary in nature and occur independent of participants' age and level of adaptive functioning. Solid stool, lower urinary tract symptoms and urinary tract infections (UTI's) were also common problems in females with RS. No differences in incontinence between RS and the control group were found, except for solid stool that was more common in RS than in the control group. It is concluded that incontinence is not part of the behavioural phenotype of RS, but that there is an increased risk for solid stool in females with RS.
Giesbers S; Didden R; Radstaake M; Korzilius H; von Gontard A; Lang R; Smeets E; Curfs L M G
Journal of Developmental and Physical Disabilities
2012
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/s10882-012-9271-7" target="_blank" rel="noreferrer noopener">10.1007/s10882-012-9271-7</a>