Social behavior profile in young males with fragile X syndrome: Characteristics and specificity

• Published in: American journal of medical genetics. Part A Vol. 126A; no. 1; pp. 9 - 17
• Main Authors: Kau, Alice S.M., Tierney, Elaine, Bukelis, Irena, Stump, Mariah H., Kates, Wendy R., Trescher, William H., Kaufmann, Walter E.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.04.2004
• Subjects: Adolescent; autism; autism diagnostic interview; Autistic Disorder - diagnosis; Autistic Disorder - genetics; Autistic Disorder - psychology; Child; Child Behavior; child behavior checklist; Child, Preschool; fragile X; Fragile X Syndrome - diagnosis; Fragile X Syndrome - genetics; Fragile X Syndrome - psychology; Humans; Language Development Disorders; Male; Neuropsychological Tests - statistics & numerical data; Sensitivity and Specificity; Social Behavior; social behavior profile; social withdrawal
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.20218

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FraX+Aut and non‐autistic FraX and DLD+Aut, we were able to identify measures (e.g., child behavior checklist (CBCL) withdrawn subscale) that better define social interaction impairment in FraX.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. © 2004 Wiley‐Liss, Inc.