16:06 - 16:10
ICCS S6-8
(SO)
INCONTINENCE IN BOYS WITH FRAGILE-X-SYNDROME
Justine NIEMCZYK, Katharina BAUER, Teresa NAUMANN, Catharina WAGNER, Monika EQUIT and Alexander VON
GONTARD
Saarland University Hospital, Department of Child and Adolescent Psychiatry, Homburg, GERMANY
PURPOSE
Fragile-X-Syndrome (FXS) is caused by a mutation on the X-chromosome (Xq27.3). Male persons with a full mutation
have typical dysmorphic signs, moderate intellectual disability and psychological problems (ADHD, autism, anxiety). 20-
40% are affected by incontinence. The aim of the study was to clinically assess and diagnose subtypes of incontinence
and psychological problems in children with FXS in their home environments.
MATERIAL AND METHODS
In 22 boys with FXS (mean age 11.0 years) and 22 healthy controls (mean age 11.1 years), sonography (rectum,
bladder), uroflowmetry, 48-h-bladder diary, physical examination, IQ test, parental psychiatric interview and
questionnaires regarding incontinence and psychological symptoms (CBCL) were performed in a home setting.
RESULTS
Boys with FXS had higher rates of incontinence than controls: nocturnal enuresis (NE) 45.5% vs. 4.5%, daytime urinary
incontinence (DUI) 36.4% vs. 0%, fecal incontinence (FI) 31.8% vs. 0%. The most common subtypes in FXS boys were
primary non-monosymptomatic NE (n=8), urge incontinence (n=3) and non-retentive FI (n=7). 90.9% boys with FXS
had a psychological comorbidity, e.g. ADHD, anxiety, obsessive-compulsive and tic disorders. Incontinence and
behavioral symptoms were not associated.
CONCLUSIONS
Boys with FXS have a higher risk for physical disabilities, psychological disorders and incontinence than healthy boys.
Constipation does not seem to be 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 or psychological symptoms.