Social behavior profile in young males with fragile X syndrome: characteristics and specificity.
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FraX+Aut and non-autistic FraX and DLD+Aut, we were able to identify measures (e.g., child behavior checklist (CBCL) withdrawn subscale) that better define social interaction impairment in FraX.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.
Kau
Alice S M
AS
Kennedy Krieger Institute, Baltimore, Maryland 21205, USA.
Tierney
Elaine
E
Bukelis
Irena
I
Stump
Mariah H
MH
Kates
Wendy R
WR
Trescher
William H
WH
Kaufmann
Walter E
WE
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