Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.
Open accessAbstract
Language and communication development is a complex process influenced by numerous environmental and genetic factors. Many neurodevelopment disorders include deficits in language and communication skills in their diagnostic criteria, including autism spectrum disorders (ASD), language impairment (LI), and dyslexia. These disorders are polygenic and complex with a significant genetic component contributing to each. The similarity of language phenotypes and comorbidity of these disorders suggest that they may share genetic contributors. To test this, we examined the association of genes previously implicated in dyslexia, LI, and/or language‐related traits with language skills in children with ASD. We used genetic and language data collected in the A utism G enome R esearch E xchange (AGRE) and S imons S implex C ollection (SSC) cohorts to perform a meta‐analysis on performance on a receptive vocabulary task. There were associations with LI risk gene ATP2C2 and dyslexia risk gene MRPL19. Additionally, we found suggestive evidence of association with CMIP, GCFC2, KIAA0319L, the DYX 2 locus (ACOT13, GPLD1, and FAM65B), and DRD2. Our results show that LI and dyslexia genes also contribute to language traits in children with ASD. These associations add to the growing literature of generalist genes that contribute to multiple related neurobehavioral traits. Future studies should examine whether other genetic contributors may be shared among these disorders and how risk variants interact with each other and the environment to modify clinical presentations. Autism Res 2015, 8: 229–234. © 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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ASD may share etiologies of language and verbal communication deficits with dyslexia and LI.
“Nonetheless, both diseases are well-documented comorbid diseases of language impairment (LI) with similar language traits, suggesting that ASD may share etiologies of language and verbal communication deficits with dyslexia and LI (Eicher and Gruen, 2015).”
From Two Autism/Dyslexia Linked Variations of DOCK4 Disrupt the Gene Function on Rac1/Rap1 Activation, Neurite Outgrowth, and Synapse Development (2020) · cites this paper as Eicher and Gruen, 2015
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Myres, S., Christensen, K. E., & Lundwall, R. A. (2025) · Frontiers in Neuroscience · doi:10.3389/fnins.2025.1449354
Yang, Y., Zheng, T., Tang, Q., Xiang, B., Yang, M., Zeng, J., Zhou, F., & Xie, X. (2024) · Figshare · doi:10.6084/m9.figshare.26322680
Lodi, M. K., Flax, J. F., Gwin, C., Wilson, S., Robinson, A. B., Buyske, S. G., Brzustowicz, L. M., Xing, J., & Bartlett, C. W. (2026) · Genes · doi:10.3390/genes17020125
- Authors
- Eicher, J. D., & Gruen, J. R.
- Affiliations
- Yale University (US)
- Corresponding author
- Gruen, Jeffrey R.
- ORCID
- Gruen, Jeffrey R.
- Venue
- Autism Research
- Publisher
- Wiley
- Published
- 2014-12
- Volume
- 8
- Issue
- 2
- Pages
- 229-234
- ISSN
- 1939-3792 (ISSN-L)
- 1939-3806
- PMC
- PMC4412753
- OpenAlex
- W1519469912
- Cited by
- 48
- References
- 46
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 3 · 2023: 3 · 2022: 5 · 2021: 12 · 2020: 4 · 2019: 4 · 2018: 5 · 2017: 2 · 2016: 4 · 2015: 3
- FWCI
- 0.29
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Autism Research (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- NIH (T32 GM007223, F31 DC012270)
- Manton Family Foundation
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Social Sciences › Psychology › Developmental and Educational Psychology › Reading and Literacy Development
- Keywords
- autism spectrum disorder, language impairment, dyslexia, language skills, risk genes, receptive vocabulary, DRD2, CMIP, children
- MeSH terms
- Autism Spectrum Disorder, Calcium-Transporting ATPases, Child, Dyslexia, Female, Genetic Markers, Humans, Language Development Disorders, Male, Ribosomal Proteins, Vocabulary, Mitochondrial Proteins
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