PubMed Health⌕ Search

PubMed · 9586771

Autism in tuberous sclerosis complex.

Abstract

The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC) are reported and risk factors that may influence the development of autism in TSC are examined. Eight probands meet ICD-10 and DSM-IV criteria for autism, an additional 4 meet criteria for pervasive developmental disorder (PDD). Twelve TSC probands with autism/PDD are compared to 16 TSC probands without these conditions for factors which may underlie the association of autism and TSC. A specific seizure type, infantile spasms, as well as mental retardation, are increased in the TSC, autistic/PDD group. Furthermore, rates of social phobia and substance abuse are elevated among first-degree relatives of TSC probands with autism compared to first-degree relatives of TSC probands without autism. Implications of these findings in understanding the association of autism and TSC are discussed.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

G C Gutierrez, S L Smalley, P E Tanguay. 1998. Autism in tuberous sclerosis complex.. https://doi.org/10.1023/a%3A1026032413811

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

One-year change in repetitive behaviours in young children with communication disorders including autism.

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.

Autistic Disorder↗

Mutation screening of the ARX gene in patients with autism.

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.

Autistic Disorder↗