Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These…
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
It is reported that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders.
Functional impact of global rare copy number variation in autism spectrum disorders
The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
A Screening Questionnaire for Asperger Syndrome and Other High-Functioning Autism Spectrum Disorders in School Age Children
- S. Ehlers, C. Gillberg, L. Wing
- Psychology, MedicineJournal of Autism and Developmental Disorders
- 1 April 1999
Findings indicate that the ASSQ is a useful brief screening device for the identification of autism spectrum disorders in clinical settings.
The epidemiology of Asperger syndrome. A total population study.
- S. Ehlers, C. Gillberg
- Medicine, PsychologyJournal of Child Psychology and Psychiatry and…
- 1 November 1993
A total population study of Asperger syndrome using a two-stage procedure and findings obtained using Szatmari et al.'s and ICD-10 draft criteria for the disorder are described.
Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders
The clinical psychiatric presentation and important outcome measures of a large group of normal-intelligence adult patients with ASDs, characterized by impaired social interaction and non-verbal communication in adulthood as well as in childhood, are described.
Can Autism be Detected at 18 Months?
This study screened 41 18-month-old toddlers who were at high genetic risk for developing autism, and 50 randomly selected 18- month-olds, using a new instrument, the CHAT, administered by GPs or health visitors, to establish if detection of autism was possible at 18 months of age.
The ESSENCE in child psychiatry: Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations.
- C. Gillberg
- Psychology, MedicineResearch in Developmental Disabilities
- 1 November 2010
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
Asperger syndrome--some epidemiological considerations: a research note.
It is concluded that among children with normal intelligence, rates of 10-26 per 10,000 children are minimum figures and the combination of Asperger syndrome and mild mental retardation is shown.