The Autism Birth Cohort: a paradigm for gene–environment–timing research
Open accessAbstract
The reported prevalence of autism spectrum disorders (ASDs) has increased by 5- to 10-fold over the past 20 years. Whether ASDs are truly more frequent is controversial; nonetheless, the burden is profound in human and economic terms. Although autism is among the most heritable of mental disorders, its pathogenesis remains obscure. Environmental factors are proposed; however, none is implicated. Furthermore, there are no biomarkers to screen for ASD or risk of ASD. The Autism Birth Cohort (ABC) was initiated to analyze gene x environment x timing interactions and enable early diagnosis. It uses a large, unselected birth cohort in which cases are prospectively ascertained through population screening. Samples collected serially through pregnancy and childhood include parental blood, maternal urine, cord blood, milk teeth and rectal swabs. More than 107,000 children are continuously screened through questionnaires, referral, and a national registry. Cases are compared with a control group from the same cohort in a 'nested case-control' design. Early screening and diagnostic assessments and re-assessments are designed to provide a rich view of longitudinal trajectory. Genetic, proteomic, immunologic, metagenomic and microbiological tools will be used to exploit unique biological samples. The ABC is a paradigm for analyzing the role of genetic and environmental factors in complex disorders.
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Two large-scale prospective epidemiological studies aiming at exploring environmental factors and GxE interaction were recently launched.
“Two large-scale prospective epidemiological studies aiming at exploring environmental factors and GxE interaction were recently launched.”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [110]
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- Authors
- Stoltenberg, C., Schjølberg, S., Bresnahan, M., Hornig, M., Hirtz, D., Dahl, C., Lie, K. K., Reichborn-Kjennerud, T., Schreuder, P., Alsaker, E., Øyen, A.-S., Magnus, P., Surén, P., Susser, E., Lipkin, W. I., & and the ABC Study Group
- Affiliations
- Norwegian Institute of Public Health (NO)
- New York State Psychiatric Institute (US)
- Columbia University (US)
- National Institute of Neurological Disorders and Stroke (US)
- Corresponding author
- Stoltenberg, C
- Lipkin, W I
- Venue
- Molecular Psychiatry
- Published
- 2010-06-23
- Volume
- 15
- Issue
- 7
- Pages
- 676-680
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC2892398
- OpenAlex
- W2168148740
- Cited by
- 119
- References
- 33
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 1 · 2023: 5 · 2022: 8 · 2021: 6 · 2020: 3 · 2019: 4 · 2018: 5 · 2017: 10 · 2016: 13 · 2015: 12 · 2014: 17 · 2013: 13 · 2012: 11
- FWCI
- 6.19
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (NS 047537, U01NS047537)
- 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, gene-environment interaction, developmental timing, birth cohort, early diagnosis, autism screening, prevalence, biomarkers, genetic risk factors, environmental risk factors, nested case-control design, longitudinal trajectories, maternal urine, umbilical cord blood, primary teeth, rectal swabs, microbiome, proteomics
- MeSH terms
- Adult, Autistic Disorder, Child, Child Development Disorders, Pervasive, Female, Humans, Male, Population Surveillance, Risk Factors, Cohort Studies, Case-Control Studies, Genomics, Early Diagnosis
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