Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound
Open accessAbstract
Current research suggests that incidence and heterogeneity of autism spectrum disorder (ASD) symptoms may arise through a variety of exogenous and/or endogenous factors. While subject to routine clinical practice and generally considered safe, there exists speculation, though no human data, that diagnostic ultrasound may also contribute to ASD severity, supported by experimental evidence that exposure to ultrasound early in gestation could perturb brain development and alter behavior. Here we explored a modified triple hit hypothesis [Williams & Casanova, ] to assay for a possible relationship between the severity of ASD symptoms and (1) ultrasound exposure (2) during the first trimester of pregnancy in fetuses with a (3) genetic predisposition to ASD. We did so using retrospective analysis of data from the SSC (Simon's Simplex Collection) autism genetic repository funded by the Simons Foundation Autism Research Initiative. We found that male children with ASD, copy number variations (CNVs), and exposure to first trimester ultrasound had significantly decreased non‐verbal IQ and increased repetitive behaviors relative to male children with ASD, with CNVs, and no ultrasound. These data suggest that heterogeneity in ASD symptoms may result, at least in part, from exposure to diagnostic ultrasound during early prenatal development of children with specific genetic vulnerabilities. These results also add weight to on‐going concerns expressed by the FDA about non‐medical use of diagnostic ultrasound during pregnancy. Autism Res 2017, 10: 472–484. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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In male children with ASD, copy number variations and exposure to ultrasound are associated with lower non-verbal IQ and more repetitive behaviors relative to control children.
“findings drawn from the Simon’s Simplex Collection report that in male children with ASD, copy number variations and exposure to ultrasound was associated with lower non-verbal IQ and more repetitive behaviors, relative to control children [121].”
From The contribution of environmental exposure to the etiology of autism spectrum disorder (2019) · cites this paper as [121]
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The contribution of environmental exposure to the etiology of autism spectrum disorder
Bölte, S., Girdler, S., & Marschik, P. B. (2019) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-018-2988-4 · Cited by 509 · see citing works
- Authors
- Webb, S. J., Garrison, M. M., Bernier, R., McClintic, A. M., King, B. H., & Mourad, P. D.
- Affiliations
- Seattle Children's Research Institute (US)
- Departments of Psychiatry & Behavioral Science, Neurological Surgery Seattle Washington
- University of Washington (US)
- Corresponding author
- Mourad, Pierre D.
- Venue
- Autism Research
- Publisher
- Wiley
- Published
- 2016-09
- Volume
- 10
- Issue
- 3
- Pages
- 472-484
- ISSN
- 1939-3792 (ISSN-L)
- 1939-3806
- PMC
- PMC5332517
- OpenAlex
- W2516157142
- Cited by
- 29
- References
- 137
- Citations by year
- 2026: 1 · 2025: 1 · 2023: 3 · 2022: 1 · 2021: 5 · 2020: 1 · 2019: 4 · 2018: 9 · 2017: 2 · 2016: 2
- FWCI
- 3.61
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Autism Research (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD064820, P50HD055782, U54HD083091)
- 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 › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Keywords
- autism spectrum disorder, ASD severity, copy number variation, prenatal ultrasound exposure, first-trimester ultrasound, non-verbal IQ, repetitive behavior, fetal brain development
- MeSH terms
- Autism Spectrum Disorder, Child, Female, Humans, Male, Pregnancy, Pregnancy Trimester, First, Retrospective Studies, Severity of Illness Index, Ultrasonography, Incidence, Databases, Factual, Genetic Predisposition to Disease, DNA Copy Number Variations
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