Abstract

Autism Spectrum Disorder (ASD) is a complex condition with early childhood onset, characterized by a set of common behavioral features. The etiology of ASD is not yet fully understood; however, it reflects the interaction between genetics and environment. While genetics is now a well-established risk factor, several data support a contribution of the environment as well. This paper summarizes the conclusions of a consensus conference focused on the potential pathogenetic role of environmental factors and on their interactions with genetics. Several environmental factors have been discussed in terms of ASD risk, namely advanced parental age, assisted reproductive technologies, nutritional factors, maternal infections and diseases, environmental chemicals and toxicants, and medications, as well as some other conditions. The analysis focused on their specific impact on three biologically relevant time windows for brain development: the periconception, prenatal, and early postnatal periods. Possible protective factors that might prevent or modify an ASD trajectory have been explored as well. Recommendations for clinicians to reduce ASD risk or its severity have been proposed. Developments in molecular biology and big data approaches, which are able to assess a large number of coexisting factors, are offering new opportunities to disentangle the gene–environment interplay that can lead to the development of ASD.

Highlights

  • Autism Spectrum Disorder (ASD) is a complex biological condition characterized by a common set of behavioral features with early childhood onset, reflecting the interaction between different genetic and environmental risk factors [1].At present, there is no ultimate treatment for the core features of ASD

  • The heterogeneous clinical and biological phenotypes observed in ASD strongly suggest that, in genetically susceptible individuals, environmental risk factors combine or synergize to generate a “threshold point” that might determine a dysfunction

  • We summarize the results of this consensus conference and put forward clinical recommendations for clinicians to reduce ASD risk and/or its severity

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Summary

Introduction

Autism Spectrum Disorder (ASD) is a complex biological condition characterized by a common set of behavioral features with early childhood onset, reflecting the interaction between different genetic and environmental risk factors [1]. The heterogeneous clinical and biological phenotypes observed in ASD strongly suggest that, in genetically susceptible individuals, environmental risk factors combine or synergize to generate a “threshold point” that might determine a dysfunction. In October 2018, international ASD experts convened in Rome to discuss the potential pathogenetic role of environmental factors, as well as their interactions with genetic susceptibility, focusing on three biologically relevant windows for brain development: the periconception, prenatal and early postnatal periods. We summarize the results of this consensus conference and put forward clinical recommendations for clinicians to reduce ASD risk and/or its severity

Conception Period
Prenatal Period
Gene–Environment Interactions and Epigenetics
Protective Factors
Early Intervention Strategies
Findings
Clinical Recommendations
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