Authors:
L Kent, S Bowdin, GA Kirby, WN Cooper, ER Maher
Journal name: 
Am J Med Genet B Neuropsychiatr Genet
Citation info: 
147B(7):1295-1297
Abstract: 
Neurobehavioral defects have been reported in human imprinting disorders such as Prader-Willi syndrome and Angelman syndrome and imprinted genes are often implicated in neurodevelopment processes. Beckwith-Wiedemann syndrome (BWS) is a classical human imprinting disorder characterized by prenatal and postnatal overgrowth and variable developmental anomalies. As neurodevelopmental aspects of BWS have not previously been studied in detail, we undertook a questionnaire based neurobehavioral survey of 87 children with BWS. A greater than expected proportion of children demonstrated abnormal scores on measures of emotional and behavioral difficulties. In addition, 6.8% of children had been diagnosed with an autistic spectrum disorder (ASD). 4/6 BWS children with ASD had normal chromosomes and ASD occurred in children with UPD and imprinting center 2 defects. These findings suggest a potential role for the 11p15.5 imprinted gene cluster in ASD and indicate a need for further investigations of neurobehavioral phenotypes in BWS.
DOI: 
http://doi.org/10.1002/ajmg.b.30729
E-pub date: 
05 Oct 2008