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Distinguishing features of autism in boys with fragile X syndrome


Mr Matthew Brock, University of North Carolina, Campus Box 8040, Chapel Hill, NC 27599-8040, USA (e-mail:


Background  Males with fragile X syndrome and autism (FXS/autism) represent a distinct subgroup of males with FXS at risk for markedly poorer outcomes. Early identification and intervention can improve outcomes for males with autism spectrum disorder.

Method  To advance the development of a specialised autism screening tool for young males with FXS that could assist in early identification, backward regression was used to identify the combination of parent-report questionnaire items that best predicted autism symptoms in a sample of 60 males with FXS, ages 4–18 years old.

Results  Both social and repetitive behaviours distinguished males with FXS/autism, with repetitive behaviours playing a more prominent role than previously documented in the literature.

Conclusions  Healthcare workers and early interventionists may be able to interview parents about a few key behaviours to determine if young child with FXS should be formally evaluated for autism. Evidence-based practices identified for children with autism spectrum disorder can be implemented as early as possible.