Niemczyk Justine, Einfeld Stewart, Mowat David, Equit Monika, Wagner Catharina, Curfs Leopold, von Gontard Alexander
Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg 66421, Germany.
Centre for Disability Research and Policy, Brain and Mind Research Institute, University of Sydney, Sydney, NSW, Australia.
Res Dev Disabil. 2017 Mar;62:230-237. doi: 10.1016/j.ridd.2017.01.006. Epub 2017 Jan 13.
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.
The aim was to investigate incontinence and psychological problems in MWS.
26 children (4-12 years), 13 teens (13-17 years) and 8 adults (>18years) 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.
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.
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.
莫瓦特-威尔逊综合征（MWS）由2号染色体q22区域的ZEB2基因缺失/突变引起。MWS的特征为独特的面部外观、严重智力残疾及其他异常，如癫痫发作和/或先天性巨结肠（HSCR）。大多数患者性格友善，但三分之一有心理问题。
旨在调查MWS患者的尿失禁及心理问题。
通过一个MWS支持小组招募了26名儿童（4至12岁）、13名青少年（13至17岁）和8名成年人（>18岁）。父母或照料者完成了《父母问卷：遗尿/尿失禁》以及《发育行为检查表》（DBC）。
97.7%的MWS患者有尿失禁（夜间遗尿74.4%；白天尿失禁76.2%；大便失禁81.4%）。各年龄组的尿失禁发生率均较高（儿童95.8%，青少年100%，成年人100%）。46.2%的儿童、25%的青少年和37.5%的成年人DBC得分超过临床临界值。排尿自理能力随年龄增长而提高。
MWS患者的尿失禁发生率非常高。所有患者都有身体残疾，包括泌尿生殖道和胃肠道异常。鉴于高患病率，建议对MWS患者进行尿失禁和心理问题筛查。
