Cited by 102Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersWilliams Syndrome Research

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Genetic basis of autism: is there a way forward?

Eapen, Valsamma·2011·Current Opinion in Psychiatry

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Abstract

PURPOSE OF REVIEW: This paper outlines some of the key findings from genetic research carried out in the last 12-18 months, which indicate that autism spectrum disorder (ASD) is a complex disorder involving interactions between genetic, epigenetic and environmental factors. RECENT FINDINGS: The current literature highlights the presence of genetic and phenotypic heterogeneity in ASD with a number of underlying pathogenetic mechanisms. In this regard, there are at least three phenotypic presentations with distinct genetic underpinnings: autism plus phenotype characterized by syndromic ASD caused by rare, single-gene disorders; broad autism phenotype caused by genetic variations in single or multiple genes, each of these variations being common and distributed continually in the general population, but resulting in varying clinical phenotypes when it reaches a certain threshold through complex gene-gene and gene-environment interactions; and severe and specific phenotype caused by 'de-novo' mutations in the patient or transmitted through asymptomatic carriers of such mutation. SUMMARY: Understanding the neurobiological processes by which genotypes become phenotypes, along with the advances in developmental neuroscience and neuronal networks at the cellular and molecular level, is paving the way for translational research involving targeted interventions of affected molecular pathways and early intervention programs that promote normal brain responses to stimuli and alter the developmental trajectory.

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Authors: Eapen, V.
Affiliations: Sydney South West Area Health Service (AU)
Corresponding author: Eapen, Valsamma
ORCID: Eapen, Valsamma
Venue: Current Opinion in Psychiatry
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2011-05
Volume: 24
Issue: 3
Pages: 226-236
ISSN: 0951-7367 (ISSN-L)
DOI: 10.1097/yco.0b013e328345927e
OpenAlex: W2334481864
Cited by: 102
References: 105
Citations by year: 2026: 2 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 3 · 2021: 2 · 2020: 4 · 2019: 16 · 2018: 3 · 2017: 6 · 2016: 3 · 2015: 12 · 2014: 11 · 2013: 15 · 2012: 17
FWCI: 1.27
Type: journal article
Language: en
Open access: closed
Locations: Current Opinion in Psychiatry (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords: autism spectrum disorder, autism genetics, genetic heterogeneity, phenotypic heterogeneity, broader autism phenotype, de novo mutations, gene-environment interaction, epigenetics, genotype-phenotype correlation, early intervention, translational research
MeSH terms: Child, Child Development Disorders, Pervasive, Genotype, Humans, Phenotype, Epigenesis, Genetic, Epigenomics

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Genetic basis of autism: is there a way forward?

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