PubMed · 11086979
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E Maestrini, A Paul, A P Monaco, A Bailey. 2000. Identifying autism susceptibility genes.. https://doi.org/10.1016/s0896-6273(00)00081-7
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Repetitive behaviours are a relatively neglected area of study in autism. Previous research has concluded that repetitive behaviour is inversely related to ability and that it tends to increase over the preschool years. One-hundred and four children ages 24-48 months, with autism, autism spectrum disorder (ASD) or other disorders, were followed for 13 months. Twelve items from the Autism Diagnostic Interview (ADI-R) were analysed, as well as diagnostic algorithm scores. Ability was related to degree of repetitive behaviours, except for one cluster of relatively able children. ADI-R repetitive behaviour algorithm scores increased over time; however, when all 12 behaviours were considered, there was a general decrease in impact upon the child's and family's activities. Reasons for this decrease are discussed.
Mutations in the Aristaless related homeobox (ARX) gene are associated with a broad spectrum of disorders, including nonsyndromic X-linked mental retardation, sometimes associated with epilepsy, as well as syndromic forms with brain abnormalities and abnormal genitalia. Furthermore, ARX mutations have been described in a few patients with autism or autistic features. In this study, we screened the ARX gene in 226 male patients with autism spectrum disorders and mental retardation; 42 of the patients had epilepsy. The mutation analysis was performed by direct sequencing of all exons and flanking regions. No ARX mutations were identified in any of the patients tested. These findings indicate that mutations in the ARX gene are very rare in autism.
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