Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by challenges in social interaction, communication, and behavior. For decades, researchers have endeavored to uncover its origins, which are believed to stem from a combination of genetic and environmental factors. Recent studies have provided compelling insights into potential causes of autism, offering hope for early detection and intervention.​

Genetic Factors

Genetic research has identified numerous genes linked to ASD. A landmark study published in Cell in January 2020 analyzed over 35,000 DNA samples and pinpointed 102 genes associated with autism. This extensive analysis distinguished genes linked specifically to autism from those associated with other neurodevelopmental disorders, enhancing our understanding of the genetic underpinnings of ASD. ​The Washington Post+3Time+3New York Post+3

Further research has illuminated the role of specific genes in brain development. For instance, a study identified a direct link between autism and the DDX53 gene, which plays a critical role in brain development. Variants in this gene were found in children with autism, suggesting its significant role in the condition. ​ScienceDaily+3The Washington Post+3Knowridge Science Report+3New York Post

Environmental Factors

Environmental influences during critical periods of brain development have also been implicated in autism. A comprehensive meta-analysis published in The Lancet Diabetes & Endocrinology in April 2025 reinforced the association between maternal diabetes during pregnancy and an increased risk of neurodevelopmental disorders, including autism, in children. The study analyzed data from over 56 million mother-child pairs and found that children born to mothers with diabetes had a 25% higher risk of developing autism. ​Reuters+1The Sun+1

Additionally, exposure to certain environmental chemicals has been linked to autism risk. A decade-long study by the Florey Institute in Australia established a connection between prenatal exposure to bisphenol A (BPA), a chemical found in plastics, and an increased risk of autism spectrum disorder in boys. The study found that boys born to mothers with higher BPA levels during late pregnancy were significantly more likely to exhibit autism symptoms by age two and be diagnosed with autism by age eleven. ​The Australian

Complex Interactions

The interplay between genetic predisposition and environmental factors adds complexity to understanding autism's origins. For example, a study by Yale researchers identified specific cell types and brain regions affected by gene mutations linked to autism, suggesting that targeted treatments may be possible. ​Yale School of Medicine

Conclusion

While significant progress has been made in identifying potential causes of autism, the condition's multifaceted nature necessitates ongoing research. Understanding the intricate interactions between genetic and environmental factors is crucial for developing effective prevention strategies, early diagnostic tools, and personalized interventions to support individuals with autism.