title: Social behavior profile in young males with fragile X syndrome: characteristics and specificity.
abstract: The present study characterizes distinctive and specific features of social behavior impairment, termed social behavior profile (SBP), in young males with fragile X syndrome (FraX). Fourteen males with FraX and autism (FraX+Aut), ages 3-8 years, were compared with either 41 FraX boys without autism (Aut), 7 age-matched males with developmental language delay and autism (DLD+Aut), or with 11 boys with non-selected (for language delay) idiopathic autism (IA), on several standardized instruments assessing social behavior and autistic features (i.e., autism diagnostic interview-revised, ADI-R). We found that FraX+Aut subjects displayed more impairment in overall cognition, problem/aberrant behavior, and adaptive behavior than the rest of the FraX cohort, even when individuals with pervasive developmental disorder (PDD) were included in the latter. Compared to both DLD+Aut and IA, FraX+Aut males were less impaired in ADI-R reciprocal social interaction (RECS) domain. However, boys with FraX+Aut were in general comparable to DLD+Aut subjects in problem/aberrant and adaptive behaviors. Based on the contrast between FraX+Aut and non-autistic FraX and DLD+Aut, we were able to identify measures (e.g., child behavior checklist (CBCL) withdrawn subscale) that better define social interaction impairment in FraX. Comparisons with DLD+Aut and IA led to the conclusion that communication impairment (COMM) and stereotypic behavior contribute relatively more to the diagnosis of autism in FraX+Aut. In agreement with recent studies, our data suggest that FraX+Aut, and more generally SBP, is a distinctive subphenotype among boys with FraX, which may share some pathophysiological mechanisms with IA.
authors.affiliation: Kennedy Krieger Institute, Baltimore, Maryland 21205, USA.
authors.forename: Alice S M
authors.initials: AS
authors.lastname: Kau
authors.forename: Elaine
authors.initials: E
authors.lastname: Tierney
authors.forename: Irena
authors.initials: I
authors.lastname: Bukelis
authors.forename: Mariah H
authors.initials: MH
authors.lastname: Stump
authors.forename: Wendy R
authors.initials: WR
authors.lastname: Kates
authors.forename: William H
authors.initials: WH
authors.lastname: Trescher
authors.forename: Walter E
authors.initials: WE
authors.lastname: Kaufmann
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D002648:Child; D002652:Child Behavior; D002675:Child, Preschool; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D006801:Humans; D007805:Language Development Disorders; D008297:Male; D009483:Neuropsychological Tests / Q000706:statistics & numerical data; D012680:Sensitivity and Specificity; D012919:Social Behavior