title: Delineation of behavioral phenotypes in genetic syndromes: characteristics of autism spectrum disorder, affect and hyperactivity.
abstract: We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4-51). ASD symptomatology was heightened in CdLS and FXS. High levels of impulsivity were seen in SMS, AS, CdCS, FXS and adults with CdLS. Negative affect was prominent in adults with CdLS, while positive affect was prominent in adults with AS and FXS. Heightened levels of overactivity and impulsivity were identified in FXS, AS and SMS while low levels were identified in PWS. These findings confirm and extend previously reported behavioral phenotypes.
authors.affiliation: Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT UK. c.oliver@bham.ac.uk
authors.forename: Chris
authors.initials: C
authors.lastname: Oliver
authors.forename: Katy
authors.initials: K
authors.lastname: Berg
authors.forename: Jo
authors.initials: J
authors.lastname: Moss
authors.forename: Kate
authors.initials: K
authors.lastname: Arron
authors.forename: Cheryl
authors.initials: C
authors.lastname: Burbidge
mesh_terms: D000293:Adolescent; D000328:Adult; D000339:Affect; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000150:complications* / Q000235:genetics / Q000523:psychology; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000150:complications* / Q000235:genetics / Q000523:psychology; D005260:Female; D006801:Humans; D006948:Hyperkinesis / Q000150:complications* / Q000235:genetics / Q000523:psychology; D008297:Male; D008875:Middle Aged; D010641:Phenotype