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Am J Med Genet A. 2006 Sep 1;140A(17):1804-13.

Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP.

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FPG Child Development Institute, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA.


We examined autistic behavior in a cross-sectional sample of 179 children with fragile X syndrome (FXS) and a longitudinal subset of 116 children using the Childhood Autism Rating Scale (CARS) to (a) determine a prevalence of autistic behavior in FXS, (b) examine the stability of autistic ratings over time, and (c) assess the association between the fragile X mental retardation protein (FMRP) and autistic behavior. Approximately 21% of the sample of 129 children (25.9% of boys) scored at or above the cutoff for autism. CARS scores increased slowly, yet significantly, over time, and low levels of FMRP were associated with higher mean levels of autistic behavior as measured by the CARS.

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