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Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawal.
|Title||Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawal.|
|Publication Type||Journal Article|
|Year of Publication||2006|
|Authors||Budimirovic DB, Bukelis I, Cox C, Gray RM, Tierney E, Kaufmann WE|
|Journal||American journal of medical genetics. Part A|
|Date Published||2006 Sep 1|
The present study extends our previous work on characterizing the profile of social behavior abnormalities in boys with Fragile X (FraX) and autism spectrum disorder (ASD) using clinically oriented behavioral rating scales and standardized instruments. The goal was to further distinguish behavioral parameters contributing to the diagnostic classification of FraX + ASD. The study design included two cohorts of boys with FraX (3-8 years), a larger main cohort for cross-sectional analyses (n = 56, 24 with ASD), and a longitudinal subset (n = 30, 11 with ASD) of the main cohort with up to 3 yearly observations. The focus was on the relative contribution of delayed adaptive socialization and social withdrawal, including item components of their corresponding rating instruments, to the diagnosis of ASD in boys with FraX. Using a combination of regression analyses, we demonstrated that: (1) as delayed socialization, social withdrawal is also a correlate of FraX + ASD; (2) items of social withdrawal scales representing avoidance were the main predictors of ASD status, particularly in older boys; (3) adaptive socialization skills reflecting rules of social behavior and recognition and labeling of emotions, linked to verbal reasoning abilities, were selectively associated with FraX + ASD; (4) adaptive socialization is the primary determinant over time of ASD status in boys with FraX; and (5) integrated adaptive socialization-social withdrawal models allow the identification of distinctive FraX + ASD subgroups. Altogether, our findings suggest that two distinct but interrelated social behavior abnormalities, one linked to impaired cognitive processes (delayed socialization) and the second one to disturbance in limbic circuits (avoidance), play a role in the development of ASD in boys with FraX.
|Alternate Journal||Am. J. Med. Genet. A|