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Gepubliceerd in: Journal of Autism and Developmental Disorders 4/2007

01-04-2007 | ORIGINAL PAPER

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

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

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 4/2007

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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.
Voetnoten
1
The rating of seven is given when abnormal behaviour of a type that is not encompassed by the other ratings is apparent, and eight is assigned when the behaviour does not occur and/or the rating is not applicable. These latter ratings cannot be used in the algorithm and are therefore given sparingly.
 
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Metagegevens
Titel
Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation
Auteurs
Sally Clifford
Cheryl Dissanayake
Quang M. Bui
Richard Huggins
Annette K. Taylor
Danuta Z. Loesch
Publicatiedatum
01-04-2007
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 4/2007
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-006-0205-z