Beckwith Weidemann syndrome: A behavioral phenotype–genotype study

AbstractNeurobehavioral 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. © 2008 Wiley‐Liss, Inc.