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Genetic, Epigenetic, and Environmental Influences on Fetal Alcohol Spectrum Disorder: Implications for Diagnosis, Research and Clinical Practice

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Abstract

Fetal Alcohol Spectrum Disorder (FASD) is a diagnostic term in the Canadian guidelines and an umbrella term in the US guidelines, that describes the broad range of adverse effects that can result from prenatal exposure to alcohol, including deficits across multiple physical, physiological, neurobiological, and behavioral domains. The prevalence of FASD is estimated to be 1.1–5.0%, which is significantly higher than that of other common disorders, including Autism Spectrum Disorder and Down Syndrome. This relatively high prevalence highlights the urgent need for better recognition, diagnosis, and treatment of this disorder. Currently, however, there are numerous challenges in obtaining an accurate and reliable diagnosis of FASD, and many children remain undiagnosed. This dilemma further highlights the need for new screening and diagnostic tools that provide sensitive biomarkers of prenatal alcohol exposure. Identification of at-risk children at a young age will allow these children access to early interventions and services, which can profoundly change the long-term outcomes and quality of life of individuals with FASD and their families. In this Chapter, we discuss the evidence supporting the emerging potential for genetic, epigenetic, transcriptomic, and proteomic approaches to elucidate FASD etiology, and to serve as potential biomarkers or signatures of early-life events, including prenatal alcohol exposure. We provide an overview of FASD and a brief history of the development of diagnostic criteria, review risk and resilience factors that impact the expression of the disorder, discuss genetic and epigenetic factors in FASD, and conclude by relating these findings to the clinical context.

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Author notes

  1. Alexandre A. Lussier and Berardino Petrelli contributed equally with all other contributors.

Authors and Affiliations

  1. Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA

    Alexandre A. Lussier

  2. Department of Psychiatry, Harvard Medical School, Boston, MA, USA

    Alexandre A. Lussier

  3. Department of Biochemistry & Medical Genetics; Regenerative Medicine Program, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada

    Berardino Petrelli & Geoffrey G. Hicks

  4. Department of Cellular & Physiological Sciences, Faculty of Medicine, Life Sciences Institute, University of British Columbia, Vancouver, BC, Canada

    Joanne Weinberg

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  1. Alexandre A. Lussier
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  2. Berardino Petrelli
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  3. Geoffrey G. Hicks
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  4. Joanne Weinberg
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Correspondence to Geoffrey G. Hicks .

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Editors and Affiliations

  1. Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia

    David D. Eisenstat

  2. Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada

    Dan Goldowitz

  3. Department of Pediatrics and School of Population and Public Health, University of British Columbia, Vancouver, BC, Canada

    Tim F. Oberlander

  4. Department of Pediatrics, University of Alberta, Edmonton, AB, Canada

    Jerome Y. Yager

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Lussier, A.A., Petrelli, B., Hicks, G.G., Weinberg, J. (2023). Genetic, Epigenetic, and Environmental Influences on Fetal Alcohol Spectrum Disorder: Implications for Diagnosis, Research and Clinical Practice. In: Eisenstat, D.D., Goldowitz, D., Oberlander, T.F., Yager, J.Y. (eds) Neurodevelopmental Pediatrics. Springer, Cham. https://doi.org/10.1007/978-3-031-20792-1_28

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