Authors:
Justine Niemczyk | Saarland University Hospital | Germany
Catharina Wagner | Saarland University Hospital
PD Dr. Monika Equit | Saarland University
Leopold Curfs | Maastricht University Medical Centre
Alexander von Gontard | Saarland University Hospital
Introduction:
Rates of incontinence are higher in persons with genetic syndromes than in typically developing peers. They are associated with the level of intellectual disability (ID). So far, incontinence was examined only in specific syndromes. The aim of this study was to compare the rates of incontinence over the life span and to identify risk factors in a large cohort of several syndromes using the same methods.
Methods:
Parents/carergivers of persons with Down Syndrome (DS), Williams Syndrome (WBS), Noonan Syndrome (NS), Angelman Syndrome (AS) and Mowat-Wilson Syndrome (MWS) filled out two questionnaires on incontinence, as well as the Developmental Behavior Checklist (DBC). Data from 773 individuals aged 4-59 years (nDS=317, nWBS=231, nNS=29, nAS=153, nMWS=43) in 3 age groups (children: 4-12 years; teenagers: 13-17 years; adults: >18 years) were evaluated.
Results:
The overall rate of incontinence ranged between 21.7% (WBS) and 97.5% (MWS) (DS=25.5%; NS=29.2%; AS=85.6%). Incontinence rates decreased significantly over the age groups in DS (64.0% - 10.3% - 14.0%), WBS (51.5% - 19.4% - 4.7 %) and AS (96.6% - 92.6% - 74.0%), but not in NS (50.0% - 14.3% - 16.7%) and MWS (95.7% - 100 % - 100%). Constipation was found in NS only in childhood (30%), while there was a significant increase with age in MWS (13.0% - 55.6% - 50.0%). In DS, WBS and AS, the rates remained constant through the lifetime. Incontinence is associated with psychological symptoms in WBS and DS, with epilepsy in AS and with physical disability in DS.
Conclusion:
This is the largest study on incontinence conducted in persons with genetic syndromes, so far. Incontinence is common and remains a problem from child- to adulthood, especially in syndromes with severe ID. Not only ID, but also other medical influences (anomalies/malformations, epilepsy, dementia, psychiatric disorders) are involved as risk factors for incontinence.