Autism Research Today is a free monthly online journal that collates and summarizes the latest research about Autism, including details on symptoms, diagnosis, treatment, causes, effects.

Autism spectrum phenotype in males and females with fragile X full mutation and premutation.

Clifford S, Dissanayake C, Bui QM, Huggins R, Taylor AK, Loesch DZ

School of Psychological Science, La Trobe University, Victoria, Australia.

The behavioural phenotype of autism was assessed in individuals with full mutation and premutation fragile X syndrome (FXS) using the Autism Diagnostic Observation Scale-Generic (ADOS-G) and the Autism Diagnostic Interview (ADI-R). The participants, aged 5-80 years, comprised 33 males and 31 females with full mutation, 7 males and 43 females with premutation, and 38 non-fragile X relatives (29 males, 9 females). In the full mutation group, a total of 67% males and 23% females met either the Autism Disorder (AD) or the Autism Spectrum Disorder (ASD) criteria on at least one of the diagnostic tests. In the premutation group, 14% males and 5% females met the ADOS-G criteria for ASD. The presence of autism manifestations in males and females with full mutation and premutation provide support for a spectrum view.

Published 6 April 2007 in J Autism Dev Disord, 37(4): 738-47.
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