title: Beckwith Weidemann syndrome: a behavioral phenotype-genotype study.
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.
authors.affiliation: Bute Medical School, University of St. Andrews, St. Andrews, Scotland, UK. lsk8@st-andrews.ac.uk
authors.forename: Lindsey
authors.initials: L
authors.lastname: Kent
authors.forename: Sarah
authors.initials: S
authors.lastname: Bowdin
authors.forename: Gail A
authors.initials: GA
authors.lastname: Kirby
authors.forename: Wendy N
authors.initials: WN
authors.lastname: Cooper
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
mesh_terms: D000293:Adolescent; D000342:Affective Symptoms / Q000235:genetics; D001321:Autistic Disorder / Q000235:genetics; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D003625:Data Collection; D005260:Female; D018392:Genomic Imprinting; D005838:Genotype; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000235:genetics; D010641:Phenotype; D011795:Surveys and Questionnaires