PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 1928098

Complex segregation analysis of autism.

L B Jorde·S J Hasstedt·E R Ritvo·A Mason-Brothers·B J Freeman·C Pingree·W M McMahon·B Petersen·W R Jenson·A Mo
View original source ↗Export metadata ↓

Abstract

A complex segregation analysis of autism in 185 Utah families was carried out using the mixed model. The 209 affected individuals in these families represent nearly complete ascertainment of the autistic cases born in Utah between 1965 and 1984. The sibling recurrence risk for autism was 4.5% (95% confidence limits 2.8%-6.2%). Likelihoods were maximized for major-gene models, a polygenic model, a sibling-effect model, and a mixed model consisting of major-gene and shared-sibling effects. The analysis provided no evidence for major-locus inheritance of autism. Subdivision of the sample according to the probands' IQ levels showed that sibling recurrence risk did not vary consistently with IQ level. A segregation analysis of families in which the proband had an IQ less than 50 also failed to provide evidence for a major locus. However, because of the etiologic heterogeneity of this disorder, genetic analysis of other meaningful subsets of families could prove informative.

Explore related subjects

Autistic DisorderFemaleHumansMaleModels, GeneticPrevalencePsychological TestsStatistics as TopicUtahJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.Research Support, U.S. Gov't, P.H.S.

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

L B Jorde, S J Hasstedt, E R Ritvo, A Mason-Brothers, B J Freeman, C Pingree, W M McMahon, B Petersen, W R Jenson, A Mo. 1991. Complex segregation analysis of autism.. https://pubmed.ncbi.nlm.nih.gov/1928098/

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

KEEP EXPLORING

Related citations

PubMed2008

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↗
PubMed2007

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↗