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

Sally Clifford; Cheryl Dissanayake; Quang M. Bui; Richard Huggins; Annette K. Taylor; Danuta Z. Loesch

doi:10.1007/s10803-006-0205-z

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

Sally Clifford, Cheryl Dissanayake^*, Quang M. Bui, Richard Huggins, Annette K. Taylor, Danuta Z. Loesch

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

310 Citations (Scopus)

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.

Original language	English
Pages (from-to)	738-747
Number of pages	10
Journal	Journal of Autism and Developmental Disorders
Volume	37
Issue number	4
DOIs	https://doi.org/10.1007/s10803-006-0205-z
Publication status	Published - Apr 2007

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title = "Autism spectrum phenotype in males and females with fragile X full mutation and premutation",

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

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AU - Clifford, Sally

AU - Dissanayake, Cheryl

AU - Bui, Quang M.

AU - Huggins, Richard

AU - Taylor, Annette K.

AU - Loesch, Danuta Z.

PY - 2007/4

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N2 - 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.

AB - 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.

KW - Autism Diagnostic Interview-Revised (ADI-R)

KW - Autism Diagnostic Observation Schedule-Generic (ADOS-G)

KW - Autism Spectrum Disorder (ASD)

KW - Fragile X premutation (FXP)

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JO - Journal of Autism and Developmental Disorders

JF - Journal of Autism and Developmental Disorders

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ER -

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

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