Advances in Autism
Top Cited Papers
- 1 February 2009
- journal article
- review article
- Published by Annual Reviews in Annual Review of Medicine
- Vol. 60 (1) , 367-380
- https://doi.org/10.1146/annurev.med.60.053107.121225
Abstract
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 on 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.Keywords
This publication has 96 references indexed in Scilit:
- A Functional Genetic Link between Distinct Developmental Language DisordersNew England Journal of Medicine, 2008
- Autism: Many Genes, Common Pathways?Cell, 2008
- Psychiatric Disorders in Children With Autism Spectrum Disorders: Prevalence, Comorbidity, and Associated Factors in a Population-Derived SampleJournal of the American Academy of Child & Adolescent Psychiatry, 2008
- Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosisNature Medicine, 2008
- Advances in autism genetics: on the threshold of a new neurobiologyNature Reviews Genetics, 2008
- Evidence-Based Comprehensive Treatments for Early AutismJournal of Clinical Child & Adolescent Psychology, 2008
- Structural Variation of Chromosomes in Autism Spectrum DisorderAmerican Journal of Human Genetics, 2008
- Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility GenePublished by Elsevier ,2008
- Correction of Fragile X Syndrome in MiceNeuron, 2007
- Genome-wide analyses of human perisylvian cerebral cortical patterningProceedings of the National Academy of Sciences, 2007