Related Experiment Video
Updated: Apr 6, 2026

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
Published on: June 28, 2024
Maternal folate status as a risk factor for autism spectrum disorders: a review of existing evidence
Elizabeth A DeVilbiss1, Renee M Gardner2, Craig J Newschaffer1
11Department of Epidemiology and Biostatistics,Drexel University School of Public Health,Philadelphia,PA 19104,USA.
Insights
Maternal folate status may impact autism risk, but current evidence is inconclusive. Further research is needed to confirm the link between folate and autism spectrum disorders (ASD) in expectant mothers.
Area of Science:
- Neuroscience
- Nutritional Science
- Genetics
Background:
- Emerging epidemiological data suggest maternal folate status influences autism spectrum disorder (ASD) risk.
- Folate's role in neurodevelopmental disorders is under investigation, involving dietary, genetic, and epigenetic factors.
Purpose of the Study:
- To review the role of folate in neurodevelopment and ASD etiology.
- To summarize biological, genetic, and epigenetic mechanisms linking maternal folate to ASD.
- To synthesize evidence from human studies on maternal folate and ASD risk.
Main Methods:
- Review of epidemiological studies, observational studies, and randomized controlled trials.
- Analysis of biological, genetic, and epigenetic mechanisms.
- Assessment of limitations in existing literature, including confounding factors and exposure windows.
Main Results:
- Existing evidence on the maternal folate-ASD link is inconclusive.
- Current studies are limited by potential confounding factors and narrow exposure assessment windows.
- Further research is required to validate the hypothesis.
Conclusions:
- A definitive link between maternal folate status and ASD risk is not yet established.
- Comprehensive assessment requires measuring folate, vitamin B12, homocysteine, and relevant genetic variants.
- Future studies must carefully consider confounding factors and functional folate status during critical developmental periods.
Abstract:
Emerging evidence from epidemiological studies supports the notion that maternal folate status regulated by dietary and genetic factors early in pregnancy may influence the risk of autism spectrum disorders (ASD). In this review, we provide an overview of what is known about the role of folate in the aetiology of neurodevelopmental disorders; summarise relevant biological, genetic and epigenetic mechanisms; and synthesise the evidence from human observational studies and randomised controlled trials that have examined the relationship between maternal folate and ASD or related traits. Much of the existing literature on this topic is subject to limitations such as potential confounding by healthy behaviours and other dietary factors, and exposure assessed within limited exposure windows. As the existing evidence is inconclusive, further research remains to be conducted in order to verify this hypothesis. Complete assessment of maternal functional folate status through the pre- and peri-conceptional periods requires biological measurement of folate, vitamin B12 and homocysteine and genetic variants involved in one-carbon metabolism and epigenetic mechanisms. In addition to more complete assessment of maternal functional folate status, careful consideration of potential confounding is warranted.
Related Concept Videos
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Development of the Oral Microbiota
Meiosis vs. Mitosis
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Teratogenicity
Pedigree Analysis

