Infant siblings and the investigation of autism risk factors
Craig J Newschaffer1, Lisa A Croen, M Daniele Fallin
1Department of Epidemiology and Biostatistics, Drexel School of Public Health, 1505 Race Street, Mail Stop 1033, Philadelphia, PA 19102, USA. nllee@drexel.edu.
Insights
Infant sibling studies offer new insights into autism spectrum disorders (ASD). Shifting enrollment to conception enables studying early risk factors and biomarkers for ASD development.
Area of Science:
- Neurodevelopmental Disorders
- Genetics and Etiology of Autism Spectrum Disorders
- Developmental Psychology
Background:
- Infant sibling studies are crucial for understanding early signs of autism spectrum disorders (ASD).
- These studies have significant potential for advancing research into the causes of ASD.
- Current research focuses on identifying genetic and environmental risk factors for ASD.
Purpose of the Study:
- To review the enriched-risk pregnancy cohort approach for studying infant siblings in the context of ASD etiology.
- To discuss the key features and implementation of this advanced research design.
- To describe the Early Autism Risk Longitudinal Investigation (EARLI) study as a model for this approach.
Main Methods:
- Reconfiguring traditional sibling studies into enriched-risk pregnancy cohorts.
- Enrolling participants from conception through the neonatal period.
- Conducting close developmental follow-up of at-risk infants through the third year of life.
Main Results:
- This approach allows for optimal study of risk factors and biomarkers during critical prenatal and early postnatal periods.
- It provides a powerful design for investigating the developmental trajectory of ASD.
- The EARLI study serves as a practical example of implementing this methodology.
Conclusions:
- The enriched-risk pregnancy cohort approach significantly enhances the potential of infant sibling studies for ASD research.
- This methodology is vital for unraveling the complex etiologic mechanisms of ASD.
- Early identification of risk factors through this approach can inform future interventions for ASD.
Abstract:
Infant sibling studies have been at the vanguard of autism spectrum disorders (ASD) research over the past decade, providing important new knowledge about the earliest emerging signs of ASD and expanding our understanding of the developmental course of this complex disorder. Studies focused on siblings of children with ASD also have unrealized potential for contributing to ASD etiologic research. Moving targeted time of enrollment back from infancy toward conception creates tremendous opportunities for optimally studying risk factors and risk biomarkers during the pre-, peri- and neonatal periods. By doing so, a traditional sibling study, which already incorporates close developmental follow-up of at-risk infants through the third year of life, is essentially reconfigured as an enriched-risk pregnancy cohort study. This review considers the enriched-risk pregnancy cohort approach of studying infant siblings in the context of current thinking on ASD etiologic mechanisms. It then discusses the key features of this approach and provides a description of the design and implementation strategy of one major ASD enriched-risk pregnancy cohort study: the Early Autism Risk Longitudinal Investigation (EARLI).
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