How to Cite this Article: Evans E, Einfeld S, Mowat D, Taffe J, Tonge B, Wilson M. 2012. The behavioral phenotype of Mowat–Wilson syndrome. Am J Med Genet Part A 158A:358–366.
The behavioral phenotype of Mowat–Wilson syndrome†
Article first published online: 13 JAN 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 2, pages 358–366, February 2012
How to Cite
Evans, E., Einfeld, S., Mowat, D., Taffe, J., Tonge, B. and Wilson, M. (2012), The behavioral phenotype of Mowat–Wilson syndrome. Am. J. Med. Genet., 158A: 358–366. doi: 10.1002/ajmg.a.34405
- Issue published online: 19 JAN 2012
- Article first published online: 13 JAN 2012
- Manuscript Accepted: 29 OCT 2011
- Manuscript Received: 25 FEB 2011
- University of New South Wales Faculty of Medicine Research Grants
- Sydney Children's Hospital Foundation
- NHMRC. Grant Numbers: 384211, 13844
- National Institute of Mental Health. Grant Numbers: MH61809, MH61809-01A2
- Mowat–Wilson syndrome;
- ZEB2 protein;
- human genetics;
- mental retardation;
- intellectual disability
Mowat–Wilson syndrome (MWS) is caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirschsprung disease. The current study investigated the behavioral phenotype of MWS. Parents and carers of 61 individuals with MWS completed the Developmental Behavior Checklist. Data were compared with those for individuals selected from an epidemiological sample of people with ID from other causes. The behaviors associated with MWS included a high rate of oral behaviors, an increased rate of repetitive behaviors, and an under-reaction to pain. Other aspects of the MWS behavioral phenotype are suggestive of a happy affect and sociable demeanor. Despite this, those with MWS displayed similarly high levels of behavioral problems as those with intellectual disabilities from other causes, with over 30% showing clinically significant levels of behavioral or emotional disturbance. These findings have the potential to expand our knowledge of the role of the ZEB2 gene during neurodevelopment. Furthermore, they are a foundation for informing interventions and management options to enhance the independence and quality of life for persons with MWS. © 2012 Wiley Periodicals, Inc.