Autism Profiles of Males With Fragile X Syndrome

TLDR

Autism is common in fragile X syndrome but is often difficult to diagnose. The study compared ADOS, ADI‑R, and DSM‑IV‑TR diagnostic classifications in 63 males with fragile X syndrome and examined correlations between autism measures and molecular markers (FMRP, FMRI mRNA, CGG repeat), finding no significant relationships. Thirty percent of participants met criteria for autistic disorder and 30% for PDD‑NOS; ADOS and DSM‑IV‑TR classifications were most similar, while ADI‑R identified more autistic cases, and none of the autism measures correlated with FMRP, FMRI mRNA, or CGG repeat number.

Abstract

Autism, which is common in individuals with fragile X syndrome, is often difficult to diagnose. We compared the diagnostic classifications of two measures for autism diagnosis, the ADOS and the ADI-R, in addition to the DSM-IV-TR in 63 males with this syndrome. Overall, 30% of the subjects met criteria for autistic disorder and 30% met criteria for PDD-NOS. The classifications on the ADOS and DSM-IV-TR were most similar, whereas the ADI-R classified subjects as autistic much more frequently. We further investigated the relationship of both FMRP and FMRI mRNA to symptoms of autism in this cohort and found no significant relationship between the measures of autism and molecular features, including FMRP, FMRI mRNA, and CGG repeat number.