Autism is a neurodevelopmental condition affecting approximately 1 in 31 children (3.2%) and approximately 2.2% of adults.[1],[2]
Research shows that genetic factors significantly contribute to autism; hundreds of genes and chromosomal variations are known to increase the likelihood of autism.[3]
Advances in genetic testing – such as genome sequencing – and large-scale collaborative genomic studies have improved the ability to identify likely genetic causes, which can allow early intervention for associated medical conditions to improve outcomes.[4],[5]
[1] Shaw, K. A., Williams, S., Patrick, M. E., et al. (2025). Prevalence and early identification of autism spectrum disorder among children aged 4 and 8 years — Autism and Developmental Disabilities Monitoring Network, 16 sites, United States, 2022. MMWR Surveillance Summaries, 74(SS-2), 1–22. https://doi.org/10.15585/mmwr.ss7402a1
[2] Dietz, P. M., Rose, C. E., McArthur, D., & Maenner, M. (2020). National and state estimates of adults with autism spectrum disorder. Journal of Autism and Developmental Disorders, 50(12), 4258–4266. https://doi.org/10.1007/s10803-020-04494-4
[3] Kim, S. W., & An, J. Y. (2025). Advancing precision diagnosis in autism: Insights from large-scale genomic studies. Molecules and cells, 48(8), 100248. https://doi.org/10.1016/j.mocell.2025.100248
[4] Specchio, N., Di Micco, V., Aronica, E., et al. (2025). The epilepsy-autism phenotype associated with developmental and epileptic encephalopathies: New mechanism-based therapeutic options. Epilepsia, 66(4), 970–987. https://doi.org/10.1111/epi.18209
[5] Stafford, C. F., & Sanchez-Lara, P. A. (2022). Impact of Genetic and Genomic Testing on the Clinical Management of Patients with Autism Spectrum Disorder. Genes, 13(4), 585. https://doi.org/10.3390/genes13040585