The DOI matches its Crossref record; 105 of the 105 references it cites were found in a registry or an index.
Genetic basis of autism: is there a way forward?
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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“The overrepresentation of HR siblings among latent classes characterized by subtly disturbed levels of functioning is consonant with genetic models of ASD that encompass the transmission of subclinical manifestations of the autistic syndrome in a subset of first-degree relatives, on the basis of either incomplete penetrance or additive (multigenic) models of inheritance.39–41”
From Beyond Autism: A Baby Siblings Research Consortium Study of High-Risk Children at Three Years of Age (2013) · cites this paper as [39]
Citations
Cites
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Strong association of de novo copy number mutations with autism
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Autism as a strongly genetic disorder: evidence from a British twin study
Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995) · Psychological Medicine · doi:10.1017/s0033291700028099 · Cited by 2,461
Functional impact of global rare copy number variation in autism spectrum disorders
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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666
Genomewide Association Studies and Assessment of the Risk of Disease
Manolio, T. A. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0905980 · Cited by 1,512
Genetic Mapping in Human Disease
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Research works printed but not linked: 1
- Lichtenstein, 2010, Am J Psychiatry, 167, 1357, 10.1176/appi.ajp.2010.10020223 · DOI · Paper page
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Wang, L., Christophersen, C. T., Sorich, M. J., Gerber, J. P., Angley, M. T., & Conlon, M. A. (2012) · Digestive Diseases and Sciences · doi:10.1007/s10620-012-2167-7 · Cited by 412
Nair, A., Treiber, J. M., Shukla, D. K., Shih, P., & Müller, R.-A. (2013) · Brain · doi:10.1093/brain/awt079 · Cited by 370
Beyond Autism: A Baby Siblings Research Consortium Study of High-Risk Children at Three Years of Age
Messinger, D., Young, G. S., Ozonoff, S., Dobkins, K., Carter, A., Zwaigenbaum, L., Landa, R. J., Charman, T., Stone, W. L., Constantino, J. N., et al. (2013) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2012.12.011 · Cited by 290
Eapen, V., Črnčec, R., & Walter, A. (2013) · BMC Pediatrics · doi:10.1186/1471-2431-13-3 · Cited by 230
“Building on genetic vulnerability [4], it has been hypothesised that ASD emerges from a developmental cascade in which a deficit in attention to social stimuli leads to impaired interactions with primary caregivers.”
BackgroundSelf-citationNeurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system
Cristino, A. S., Williams, S. M., Hawi, Z., An, J., Bellgrove, M. A., Schwartz, C. E., Costa, L. D. F., & Claudianos, C. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.16 · Cited by 229
Metadata
- Authors
- Eapen, V.
- Affiliations
- Sydney South West Area Health Service (AU)
- Corresponding author
- Eapen, Valsamma
- ORCID
- Eapen, Valsamma
- Venue
- Current Opinion in Psychiatry
- Published
- 2011-05
- Volume
- 24
- Issue
- 3
- Pages
- 226-236
- ISSN
- 0951-7367 (ISSN-L)
- 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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