Characterizing Autism Spectrum Disorder in the All of Us Research Program

Many autism spectrum disorder (ASD) studies have been established for early diagnosis in youth, which make it difficult to investigate issues arising in adults, such as heterogeneity in symptoms and the timing of clinical manifestations. The All of Us Research Program is a nationwide precision medicine initiative that provides an important cohort consisting of 393,596 participants with both health records, survey data, and whole genome sequencing data, making it a unique resource to study ASD adults and other complex diseases such as cancer. In this study, we identified 1,049 ASD cases and 22,777 non-autistic controls from the All of Us cohort. Autistic adults presented a high rate (over 90%) of co-occurring psychiatric conditions, with over 60% receiving a delayed ASD diagnosis after other mental disorders. Comparison analysis of the 739 matched cases and controls showed statistically significant differences in various sociodemographic factors, including marriage, employment rates, and annual income.