Overlaps Between Autism and Language Impairment: Phenomimicry or Shared Etiology?
Open accessAbstract
Traditionally, autistic spectrum disorder (ASD) and specific language impairment (SLI) are regarded as distinct conditions with separate etiologies. Yet these disorders co-occur at above chance levels, suggesting shared etiology. Simulations, however, show that additive pleiotropic genes cannot account for observed rates of language impairment in relatives, which are higher for probands with SLI than for those with ASD + language impairment. An alternative account is in terms of 'phenomimicry', i.e., language impairment in comorbid cases may be a consequence of ASD risk factors, and different from that seen in SLI. However, this cannot explain why molecular genetic studies have found a common risk genotype for ASD and SLI. This paper explores whether nonadditive genetic influences could account for both family and molecular findings. A modified simulation involving G x G interactions obtained levels of comorbidity and rates of impairment in relatives more consistent with observed values. The simulations further suggest that the shape of distributions of phenotypic trait scores for different genotypes may provide evidence of whether a gene is involved in epistasis.
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Deficits in cognitive functioning may be more common in individuals with dysmorphic features.
“and in individuals with dysmorphic features [49]”
From DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes (2013) · cites this paper as [49]
The Introduction and General discussion address language and communication impairments in autism and specific language impairment, but do not relate cognitive deficits to dysmorphic features. Searches for “dysmorphic,” “cognitive functioning,” and physical abnormalities found no passage addressing that association. Page numbers were not available in our copy. (LLM, conf=0.74)
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- Authors
- Bishop, D. V. M.
- Affiliations
- University of Oxford (GB)
- Corresponding author
- Bishop, D. V. M.
- ORCID
- Bishop, D. V. M.
- Venue
- Behavior Genetics
- Published
- 2010-07-18
- Volume
- 40
- Issue
- 5
- Pages
- 618-629
- ISSN
- 0001-8244 (ISSN-L)
- 1573-3297
- PMC
- PMC2921070
- OpenAlex
- W2001905680
- Cited by
- 169
- References
- 59
- Citations by year
- 2026: 2 · 2025: 10 · 2024: 11 · 2023: 29 · 2022: 8 · 2021: 12 · 2020: 7 · 2019: 9 · 2018: 8 · 2017: 11 · 2016: 9 · 2015: 8 · 2014: 13 · 2013: 15 · 2012: 8
- FWCI
- 6.21
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Behavior Genetics (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Oxford University Research Archive (ORA) (University of Oxford) (submittedVersion, cc-by-nc)
- Funders
- Wellcome Trust (082498/Z/07/Z, 082498)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Social Sciences › Psychology › Developmental and Educational Psychology › Language Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, specific language impairment, comorbidities, shared etiology, epistasis, gene-gene interaction, pleiotropy
- MeSH terms
- Autistic Disorder, Epistasis, Genetic, Humans, Language Disorders, Models, Theoretical, Software, Comorbidity
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