4.5 Review Book Chapter

Advances in Autism

Journal

ANNUAL REVIEW OF MEDICINE
Volume 60, Issue -, Pages 367-380

Publisher

ANNUAL REVIEWS
DOI: 10.1146/annurev.med.60.053107.121225

Keywords

autism spectrum disorders; complex genetics; copy number variation; disconnection syndrome; neuroimaging; neuropathology

Funding

  1. NIMH
  2. Cure Autism Now
  3. Autism Speaks
  4. Tourette syndrome Foundation
  5. EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [P50HD055784] Funding Source: NIH RePORTER
  6. NATIONAL INSTITUTE OF MENTAL HEALTH [R01MH064547, R01MH081754] Funding Source: NIH RePORTER

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Autism is a common childhood neurodevelopmental disorder with strong genetic liability. It is not a unitary entity but a clinical syndrome, with variable deficits in social behavior and language, restrictive interests, and repetitive behaviors. Recent advances in the genetics of autism emphasize its etiological heterogeneity, with each genetic susceptibility locus accounting for only a small fraction of cases or having a small effect. Therefore, it is not surprising that no unifying structural or neuropathological features have been conclusively identified. Given the heterogeneity of autism spectrum disorder (ASD), approaches based oil studying heritable components of the disorder, or endophenotypes, such as language or social cognition, provide promising avenues for genetic and neurobiological investigations. Early intensive behavioral and cognitive interventions are efficacious in many cases, but autism does not remit in the majority of children. Therefore, development of targeted therapies based on pathophysiologically and etiologically defined subtypes of ASD remains an important and achievable goal of current research.

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