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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
TLDR
It is reported that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders.
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
Functional impact of global rare copy number variation in autism spectrum disorders
TLDR
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.
The epidemiology of Asperger syndrome. A total population study.
  • S. Ehlers, C. Gillberg
  • Psychology, Medicine
    Journal of child psychology and psychiatry, and…
  • 1 November 1993
TLDR
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.
A Screening Questionnaire for Asperger Syndrome and Other High-Functioning Autism Spectrum Disorders in School Age Children
TLDR
Findings indicate that the ASSQ is a useful brief screening device for the identification of autism spectrum disorders in clinical settings.
Can autism be detected at 18 months? The needle, the haystack, and the CHAT.
TLDR
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.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
TLDR
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.
Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders
TLDR
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.
The ESSENCE in child psychiatry: Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations.
  • C. Gillberg
  • Medicine, Psychology
    Research in developmental disabilities
  • 1 November 2010
TLDR
The acronym ESSENCE refers to Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations, a term I have coined to refer to the reality of children presenting in clinical settings with impairing child symptoms before age 3 (-5) years.
Asperger syndrome--some epidemiological considerations: a research note.
TLDR
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.
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