Abstract Book - 26th ESPU Congress, Joint Meeting with ICCS + SPU + AAP/SOU + AAPU + SFU

16:02 - 16:06

ICCS S6-7

(SO)

INCONTINENCE IN PERSONS WITH MOWAT-WILSON SYNDROME

Justine NIEMCZYK

, Monika EQUIT

, Stewart EINFELD

, David MOWAT

, Catharina WAGNER

and Alexander VON

GONTARD

1) Saarland University Hospital, Department of Child and Adolescent Psychiatry, Homburg, GERMANY - 2) University of

Sydney, Centre for Disability Research and Policy, Brain and Mind Research Institute, Sydney, AUSTRALIA - 3) Sydney

Children's Hospital, Department of Medical Genetics, Sydney, AUSTRALIA

PURPOSE

Mowat-Wilson Syndrome (MWS) is a congenital syndrome caused by deletion or mutation of the ZEB2 gene on

chromosome 2q22. MWS is characterized by a distinctive facial appearance, severe intellectual disability and other

anomalies, i.e. seizures or congenital heart defects. Most individuals have a sociable demeanor, but one third show

psychological problems. The aim of the study was to investigate incontinence and psychological problems in MWS.

MATERIAL AND METHODS

35 children (mean 10.5 years) and 8 adults (mean 24.8 years) with MWS were recruited through a worldwide MWS

support group. The Parental Questionnaire: Enuresis/Urinary Incontinence, as well as the Developmental Behavior

Checklist (DBC) were completed by parents or care-givers.

RESULTS

97.5% of persons with MWS were affected by at least one subtype of incontinence. 72.5% had nocturnal enuresis (NE),

74.4% daytime urinary incontinence (DUI) and 82.1% fecal incontinence (FI). Incontinence was still high in adults

(100% vs. 97% in children). 38.2% of the children and 37.5% of adults reached a clinically relevant DBC score. The

majority was affected by physical disabilities: seizures (86%), congenital heart defects (44.2%), Hirschsprung disease

(39.5%) and anomalies of the urogenital tract (39.5%).

CONCLUSIONS

Incontinence rates in children and adults with MWS are high. All had physical disabilities including anomalies of the

urogenital tract, so that both functional and organic incontinence could be present. About 40% of persons with MWS

were affected by psychological problems. Due to the high prevalence rates, a screening for organic and functional

incontinence and psychological problems in persons with MWS is recommended.