Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder
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OBJECTIVE: Aside from features associated with risk of neurogenetic syndromes in general (e.g., cognitive impairment), limited progress has been made in identifying phenotype-genotype relationships in autism spectrum disorder (ASD). The objective of this study was to extend work in the Simons Simplex Collection by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of function mutations or copy number variants in high-confidence ASD-associated genes or loci. METHOD: Analyses preemptively accounted for documented differences in sex and IQ in affected individuals with de novo mutations by matching probands with and without these genetic events on sex, IQ, and age before comparing them on multiple behavioral domains. RESULTS: Children with de novo mutations (N=112) had a greater likelihood of motor delay during early development (later age at walking), but they were less impaired on certain measures of ASD core symptoms (parent-rated social communication abnormalities and clinician-rated diagnostic certainty about ASD) in later childhood. These children also showed relative strengths in verbal and language abilities, including a smaller discrepancy between nonverbal and verbal IQ and a greater likelihood of having achieved fluent language (i.e., regular use of complex sentences). CONCLUSIONS: Children with ASD with de novo mutations may exhibit a "muted" symptom profile with respect to social communication and language deficits relative to those with ASD with no identified genetic abnormalities. Such findings suggest that examining early milestone differences and standardized testing results may be helpful in etiologic efforts, and potentially in clinical differentiation of various subtypes of ASD, but only if developmental and demographic variables are properly accounted for first.
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Existing studies investigating genotype-phenotype associations have been limited to summed scores of core autism features in smaller sample sizes rather than underlying latent dimensions.
“First, existing studies investigating genotype–phenotype associations have been limited to summed scores of core autism features in smaller sample sizes19–21 rather than the underlying latent dimensions.”
From Genetic correlates of phenotypic heterogeneity in autism (2022) · cites this paper as [21]
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Self-citationAdditional file 1 of Enhanced motor noise in an autism subtype with poor motor skills
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Additional file 1 of The diagnostic journey of genetically defined neurodevelopmental disorders
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“In at least a third of 12 individuals, ASD is one of a constellation of symptoms of neurodevelopmental delay (NDD), 13 alongside intellectual disability (2) and motor impairments (21).”
BackgroundSelf-citation
- Authors
- Bishop, S. L., Farmer, C., Bal, V., Robinson, E. B., Willsey, A. J., Werling, D. M., Havdahl, K. A., Sanders, S. J., & Thurm, A.
- Affiliations
- Broad Institute (US)
- From the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco; the Pediatrics and Developmental Neuroscience Branch, NIMH, Bethesda, Md.; the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston; the Stanley Center for Psychiatric Research and the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Mass.; and the MRC Integrative...
- Corresponding author
- Bishop, Somer L.
- ORCID
- Venue
- American Journal of Psychiatry
- Published
- 2017-06-01
- Volume
- 174
- Issue
- 6
- Pages
- 576-585
- ISSN
- 0002-953X (ISSN-L)
- 1535-7228
- PMC
- PMC5578709
- OpenAlex
- W2592553489
- Cited by
- 92
- References
- 36
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 8 · 2023: 10 · 2022: 12 · 2021: 16 · 2020: 12 · 2019: 10 · 2018: 8 · 2017: 4
- FWCI
- 5.34
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- American Journal of Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Bristol Research (University of Bristol) (acceptedVersion, other-oa)
- Rutgers University Community Repository (Rutgers University) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Alliance for Research on Schizophrenia and Depression
- University of Bristol (MC_UU_12013/1)
- National Institutes of Health (5k01mh099286-02, Z99 MH999999)
- Medical Research Council (MC_UU_12013, MCUU12013/1)
- National Institute of Mental Health (MH106934, P50MH106934, K01 MH099286, 1K01MH099286-01A1)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
- Keywords
- autism spectrum disorder, de novo mutations, copy number variation, genotype-phenotype correlation, motor delay, language development, social communication, IQ discrepancy, neurogenetic syndromes, Simons Simplex Collection, developmental milestones, ASD subtypes
- MeSH terms
- Autism Spectrum Disorder, Adolescent, Child, Developmental Disabilities, Child, Preschool, DNA Mutational Analysis, Female, Genotype, Humans, Intelligence, Language Development Disorders, Male, Phenotype, Prognosis, Reference Values, Likelihood Functions, Case-Control Studies, DNA Copy Number Variations
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