title: Detailed assessment of incontinence in boys with fragile-X-syndrome in a home setting.
abstract: Fragile-X-syndrome (FXS) is caused by a mutation on the X chromosome (Xq27.3). Males with a full mutation have typical dysmorphic signs, moderate intellectual disability and psychological disorders. Twenty-five to fifty percent are affected by incontinence. The aim of the study was to assess subtypes of incontinence and psychological problems in children with FXS in their home environments. Twenty-two boys with FXS (mean age 11.0 years) and 22 healthy controls (mean age 11.1 years) were examined with sonography, uroflowmetry, 48-h bladder diary, physical examination, IQ test, parental psychiatric interview and questionnaires regarding incontinence and psychological symptoms in a home setting. Boys with FXS had higher rates of incontinence than controls (59.1 vs. 4.8 %). The most common subtypes in FXS boys were primary non-monosymptomatic nocturnal enuresis, urge incontinence and nonretentive faecal incontinence. 90.9 % boys with FXS had a psychological comorbidity. Incontinence and behavioural symptoms were not associated.
  
  
  CONCLUSIONS
  Boys with FXS have a higher risk for physical disabilities, psychological disorders and incontinence than healthy boys. Constipation is not a major problem in FXS. As effective treatment is available for children with ID, we recommend offering assessment and therapy to all children with FXS and incontinence.
  
  
  BACKGROUND
  • Boys with fragile-X-syndrome (FXS) have higher rates of incontinence, psychological disorders and somatic conditions than typically developing boys. What is New: • Constipation is a rare condition in FXS in contrast to other genetic syndromes. • Although incontinence rates are higher, urological findings (uroflowmetry, sonography) are not more pathological per se in FXS.
authors: Department of Child and Adolescent Psychiatry, Saarland University Hospital, 66421, Homburg, Germany. justine.niemczyk@uks.eu.
authors: Justine
authors: J
authors: Niemczyk
authors: Department of Child and Adolescent Psychiatry, Saarland University Hospital, 66421, Homburg, Germany.
authors: Alexander
authors: A
authors: von Gontard
authors: Department of Child and Adolescent Psychiatry, Saarland University Hospital, 66421, Homburg, Germany.
authors: Monika
authors: M
authors: Equit
authors: Department of Child and Adolescent Psychiatry, Saarland University Hospital, 66421, Homburg, Germany.
authors: Katharina
authors: K
authors: Bauer
authors: Department of Child and Adolescent Psychiatry, Saarland University Hospital, 66421, Homburg, Germany.
authors: Teresa
authors: T
authors: Naumann
authors: Department of Child and Adolescent Psychiatry, Saarland University Hospital, 66421, Homburg, Germany.
authors: C
authors: C
authors: Wagner
authors: Department of Clinical Genetics, Governor Kremers Centre, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors: Leopold
authors: L
authors: Curfs
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D005242:Fecal Incontinence / Q000453:epidemiology / Q000209:etiology*; D005600:Fragile X Syndrome / Q000150:complications* / Q000523:psychology; D006801:Humans; D008297:Male; D053206:Nocturnal Enuresis / Q000453:epidemiology / Q000209:etiology*; D010290:Parents; D018709:Statistics, Nonparametric; D011795:Surveys and Questionnaires; D053202:Urinary Incontinence, Urge / Q000453:epidemiology / Q000209:etiology*
keywords: Constipation; Faecal incontinence; Fragile-X-syndrome; Nocturnal enuresis; Psychological disorders; Urinary incontinence