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Journal of Autism and Developmental Disorders

, Volume 37, Issue 4, pp 738–747 | Cite as

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

  • Sally Clifford
  • Cheryl DissanayakeEmail author
  • Quang M. Bui
  • Richard Huggins
  • Annette K. Taylor
  • Danuta Z. Loesch
ORIGINAL PAPER

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) 

Notes

Acknowledgments

We would like to acknowledge receipt of the National Institutes of Health Grant No. HD36071, and Grant No. 5MO1RR00069, General Clinical Research Centers Program, National Center for Research Resources, NIH.

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Copyright information

© Springer Science+Business Media, Inc. 2006

Authors and Affiliations

  • Sally Clifford
    • 1
  • Cheryl Dissanayake
    • 1
    Email author
  • Quang M. Bui
    • 2
    • 4
  • Richard Huggins
    • 2
    • 4
  • Annette K. Taylor
    • 3
  • Danuta Z. Loesch
    • 1
  1. 1.School of Psychological ScienceLa Trobe UniversityVictoriaAustralia
  2. 2.Centre for Mathematics and its ApplicationsAustralian National UniversityCanberraAustralia
  3. 3.Kimball Genetics IncorporationDenverColorado
  4. 4.Department of Mathematics and StatisticsUniversity of MelbourneVictoriaAustralia

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