Distinguishing features of autism in boys with fragile X syndrome

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.