Journal of Autism and Developmental Disorders

, Volume 37, Issue 4, pp 738–747

Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation

Authors

  • Sally Clifford
    • School of Psychological ScienceLa Trobe University
    • School of Psychological ScienceLa Trobe University
  • Quang M. Bui
    • Centre for Mathematics and its ApplicationsAustralian National University
    • Department of Mathematics and StatisticsUniversity of Melbourne
  • Richard Huggins
    • Centre for Mathematics and its ApplicationsAustralian National University
    • Department of Mathematics and StatisticsUniversity of Melbourne
  • Annette K. Taylor
    • Kimball Genetics Incorporation
  • Danuta Z. Loesch
    • School of Psychological ScienceLa Trobe University
ORIGINAL PAPER

DOI: 10.1007/s10803-006-0205-z

Cite this article as:
Clifford, S., Dissanayake, C., Bui, Q.M. et al. J Autism Dev Disord (2007) 37: 738. doi:10.1007/s10803-006-0205-z

Abstract

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.

Keywords

Fragile X syndrome (FXS)Fragile X premutation (FXP)Autism Spectrum Disorder (ASD)Autism Diagnostic Observation Schedule- Generic (ADOS-G)Autism Diagnostic Interview-Revised (ADI-R)

Copyright information

© Springer Science+Business Media, Inc. 2006