A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants
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Abstract
OBJECTIVE: Certain copy number variants (CNVs) greatly increase the risk of autism. The authors conducted a genetics-first study to investigate whether heterogeneity in the clinical presentation of autism is underpinned by specific genotype-phenotype relationships. METHODS: This international study included 547 individuals (mean age, 12.3 years [SD=4.2], 54% male) who were ascertained on the basis of having a genetic diagnosis of a rare CNV associated with high risk of autism (82 16p11.2 deletion carriers, 50 16p11.2 duplication carriers, 370 22q11.2 deletion carriers, and 45 22q11.2 duplication carriers), as well as 2,027 individuals (mean age, 9.1 years [SD=4.9], 86% male) with autism of heterogeneous etiology. Assessments included the Autism Diagnostic Interview-Revised and IQ testing. RESULTS: The four genetic variant groups differed in autism symptom severity, autism subdomain profile, and IQ profile. However, substantial variability was observed in phenotypic outcome in individual genetic variant groups (74%-97% of the variance, depending on the trait), whereas variability between groups was low (1%-21%, depending on the trait). CNV carriers who met autism criteria were compared with individuals with heterogeneous autism, and a range of profile differences were identified. When clinical cutoff scores were applied, 54% of individuals with one of the four CNVs who did not meet full autism diagnostic criteria had elevated levels of autistic traits. CONCLUSIONS: Many CNV carriers do not meet full diagnostic criteria for autism but nevertheless meet clinical cutoffs for autistic traits. Although profile differences between variants were observed, there is considerable variability in clinical symptoms in the same variant.
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A higher autism polygenic score is linked to a lower likelihood of co-occurring developmental disabilities.
“A higher autism polygenic score (PGS) is linked to a lower likelihood of co-occurring developmental disabilities.”
From The Gut–Brain–Microbiota Connection and Its Role in Autism Spectrum Disorders (2025) · cites this paper as [9]
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- Authors
- Chawner, S. J. R. A., Doherty, J. L., Anney, R. J. L., Antshel, K. M., Bearden, C. E., Bernier, R., Chung, W. K., Clements, C. C., Curran, S. R., Cuturilo, G., Fiksinski, A. M., Gallagher, L., Goin-Kochel, R. P., Gur, R. E., Hanson, E., Jacquemont, S., Kates, W. R., Kushan, L., Maillard, A. M., McDonald-McGinn, D. M., Mihaljevic, M., Miller, J. S., Moss, H., Pejovic-Milovancevic, M., Schultz, R. T., Green-Snyder, L., Vorstman, J. A., Wenger, T. L., IMAGINE-ID Consortium, Hall, J., Owen, M. J., & van den Bree, M. B. M.
- Affiliations
- Syracuse University (US)
- University of California, Los Angeles (US)
- University of Washington (US)
- Columbia University Irving Medical Center (US)
- Children's Hospital of Philadelphia (US)
- South West London and St George's Mental Health NHS Trust (GB)
- MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom (Chawner, Doherty, Anney, Moss, Hall, Owen, van den Bree); Cardiff University Centre for Human Developmental Science, School of Psychology, Cardiff University, Cardiff, United Kingdom (Chawner); Department of Psychology, Syracuse University, Syracuse, N.Y. (Antshel); Department of Psychiatry and Behavioral Sciences and Psychology, Semel...
- University Health Network (CA)
- Trinity College Dublin (IE)
- Boston Children's Hospital (US)
- SUNY Upstate Medical University (US)
- Centre Hospitalier Universitaire Vaudois (CH)
- University of Belgrade (RS)
- University of Toronto (CA)
- Seattle Children's Hospital (US)
- ORCID
- Chawner, Samuel J.R.A.
- Doherty, Joanne L.
- Anney, Richard J. L.
- Antshel, Kevin M.
- Bearden, Carrie E.
- Bernier, Raphael
- Chung, Wendy K.
- Clements, Caitlin C.
- Curran, Sarah R.
- Fiksinski, Ania M.
- Gallagher, Louise
- Kates, Wendy R.
- Kushan, Leila
- Maillard, Anne M.
- Mihaljevic, Marina
- Moss, Hayley
- Pejovic-Milovancevic, Milica
- Schultz, Robert T.
- Vorstman, Jacob A.
- Wenger, Tara L.
- Owen, Michael J.
- Venue
- American Journal of Psychiatry
- Published
- 2021-01-01
- Volume
- 178
- Issue
- 1
- Pages
- 77-86
- ISSN
- 0002-953X (ISSN-L)
- 1535-7228
- PMC
- PMC8022239
- OpenAlex
- W3117598890
- Cited by
- 95
- References
- 51
- Citations by year
- 2026: 9 · 2025: 12 · 2024: 15 · 2023: 22 · 2022: 17 · 2021: 18 · 2020: 2
- FWCI
- 9.46
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- American Journal of Psychiatry (publishedVersion)
- medRxiv (acceptedVersion, cc-by-nd)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- IRIS (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion)
- Funders
- National Science Foundation
- Autism Speaks
- Simons Foundation (400528)
- Genome Canada
- Fondation Brain Canada (159734)
- Wellcome Trust (505714, 503147)
- Health Research Board
- Waterloo Foundation (WF 918‐1234)
- Ontario Genomics
- Simons Foundation Autism Research Initiative
- International Seafood Sustainability Foundation
- Ontario Genomics Institute
- National Institute for Health and Care Research (NF-SI-0513-10141)
- Cardiff University (G0800509)
- European Cooperation in Science and Technology (CA16210)
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (171331, 159734)
- National Institutes of Health
- Canadian Institutes of Health Research
- Medical Research Council (MR/K006584/1, MR/T033045/1, G0801418, 503147, MR/N022572/1, MR/L010305/1, MR/L011166/1, G0800509)
- National Institute of Mental Health (R21MH116473, U01MH101719, U01MH119738, U01MH119736, U01MH101724, R01MH085953, R01MH064824, U01MH119739, U01MH119758, U01MH119741, R37MH085953)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD105354)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, copy number variation, 16p11.2 deletion, 16p11.2 duplication, 22q11.2 deletion, 22q11.2 duplication, genotype-phenotype correlation, autism severity, autistic traits, IQ, autism heterogeneity
- MeSH terms
- Autistic Disorder, Child, Heterozygote, Humans, Interview, Psychological, Male, Risk Factors, Severity of Illness Index, Prevalence, Gene Deletion, Genetic Predisposition to Disease, Genetic Association Studies, DNA Copy Number Variations
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