Autism spectrum phenotype in males and females with fragile X full mutation and premutation.
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.
Clifford
Sally
S
School of Psychological Science, La Trobe University, Victoria, Australia.
Dissanayake
Cheryl
C
Bui
Quang M
QM
Huggins
Richard
R
Taylor
Annette K
AK
Loesch
Danuta Z
DZ
D000203:Activities of Daily Living / Q000145:classification; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003405:Creativity; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D007092:Imagination; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D010988:Play and Playthings / Q000523:psychology; D012919:Social Behavior; D012951:Socialization; D013239:Stereotyped Behavior