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The Autism Birth Cohort: a paradigm for gene–environment–timing research

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Abstract

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 × environment × 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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Acknowledgements

In addition to the named co-authors on this paper, the ABC Study Group consists of Kari Harbak, Ole-Martin Kvinge, Kristin Opsahl, Kjersti Skjold Rønningen, Nina Stenberg, Nina Stensrud and Arild Sunde from the Norwegian Institute of Public Health, and Thomas Briese, Vishal Kapoor and Ian McKeague from the Mailman School of Public Health. We gratefully acknowledge the dedication of the parents and children of the ABC and MoBa cohorts, the efforts of the clinical assessment team at Nic Waals Institute and the thoughtful guidance of our Scientific Advisory Board members, Michael Rutter, Catherine Lord, Margaret Pericak-Vance and Alan Leviton. The ABC is supported by National Institutes of Health award NS047537.

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Correspondence to C Stoltenberg or W I Lipkin.

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Stoltenberg, C., Schjølberg, S., Bresnahan, M. et al. The Autism Birth Cohort: a paradigm for gene–environment–timing research. Mol Psychiatry 15, 676–680 (2010). https://doi.org/10.1038/mp.2009.143

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