Genetic advances in autism: heterogeneity and convergence on shared pathways
Open accessAbstract
The autism spectrum disorders (ASD) are a heterogeneous set of developmental disorders characterized at their core by deficits in social interaction and communication. Current psychiatric nosology groups this broad set of disorders with strong genetic liability and multiple etiologies into the same diagnostic category. This heterogeneity has challenged genetic analyses. But shared patient resources, genomic technologies, more refined phenotypes, and novel computational approaches have begun to yield dividends in defining the genetic mechanisms at work. Over the last five years, a large number of autism susceptibility loci have emerged, redefining our notion of autism's etiologies, and reframing how we think about ASD.
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Because of etiological heterogeneity, diagnostic categories may be poorly suited to causal research.
“diagnostic definitions may not be ideal for causal research, a phenomena termed “etiological heterogeneity.”165–167”
From Environmental Chemical Exposures and Autism Spectrum Disorders: A Review of the Epidemiological Evidence (2014) · cites this paper as [166]
Autism, as with other psychiatric disorders, is diagnosed by clustering observable symptoms rather than by causal pathways.
“autism, like other psychiatric disorders, is diagnosed based on observable symptom clustering, not causal pathways”
From Environmental Chemical Exposures and Autism Spectrum Disorders: A Review of the Epidemiological Evidence (2014) · cites this paper as [166]
Many autistic disorder-implicated genes converge on common biological pathways and brain circuits, including synaptic formation, signaling, and homeostasis in brain regions such as frontal and temporal cortices, caudate, amygdala, and cerebellum.
“Compellingly, however, many genes converge on common biological pathways and brain circuits. These include synaptic formation, signaling and homeostasis in brain regions that process rapid and coherent integration of information from multiple, higher-level association areas, including frontal and temporal cortices, caudate, amygdala and cerebellum [55–58].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [56]
The value of pathway enrichment analysis depends on how well the tested genes are experimentally supported and how accurately current pathway annotations reflect reality.
“The value of this approach depends on the level of experimental support for the specific genes tested and the degree to which current pathway annotations represent reality [25, 68].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [68]
These results replicate and extend earlier composite pathway analyses of putative ASD susceptibility genes from the literature and CNV pathway analyses in AGRE and other cohorts.
“These results replicate and extend earlier composite pathway analysis of putative ASD susceptibility genes compiled from the literature [68], and CNV pathway analysis in the Autism Genetic Resource Exchange (AGRE) and other cohorts [32, 36].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [68]
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- Authors
- Bill, B. R., & Geschwind, D. H.
- Affiliations
- University of California, Los Angeles (US)
- Corresponding author
- Geschwind, Daniel H
- Venue
- Current Opinion in Genetics & Development
- Publisher
- Elsevier BV
- Published
- 2009-06
- Volume
- 19
- Issue
- 3
- Pages
- 271-278
- ISSN
- 0959-437X (ISSN-L)
- PMC
- PMC2715429
- OpenAlex
- W2078829538
- Cited by
- 164
- References
- 52
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 4 · 2023: 3 · 2022: 3 · 2021: 4 · 2020: 5 · 2019: 4 · 2018: 1 · 2017: 4 · 2016: 6 · 2015: 15 · 2014: 18 · 2013: 23 · 2012: 24
- FWCI
- 1.79
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Current Opinion in Genetics & Development (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Institute of Mental Health (R01MH081754, R0-1 MH81754-01)
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (T-32 HD0703230, T32HD007032, P50HD055784)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, genetic heterogeneity, shared genetic pathways, autism etiology, genetic susceptibility, social interaction deficits, communication difficulties, psychiatric classification, genetic mechanisms
- MeSH terms
- Autistic Disorder, Humans, Models, Genetic, Signal Transduction, Genetic Heterogeneity, Genetic Predisposition to Disease, Epigenesis, Genetic, Gene Regulatory Networks
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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