Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong impacts. Genetic and environmental factors contribute to ASD etiology, which remains incompletely understood. Significant advances in ASD epidemiology have been seen in the past decade. Current prevalence is estimated to be at least 1.5% in developed countries, with recent increases primarily among those without comorbid intellectual disability. Genetic studies have identified a number of rare de novo mutations, and gained footing in the areas of polygenic risk, epigenetics, polygenic risk, and gene x environment (GxE) interaction. Epidemiologic investigations focused on non-genetic factors have established advanced parental age and preterm birth as ASD risk factors, indicated that prenatal exposure to air pollution and short inter-pregnancy interval are potential risk factors, and suggest that further exploration of certain prenatal nutrients, metabolic conditions, and exposure to endocrine-disrupting chemicals is warranted. Future challenges and goals for ASD epidemiology are discussed.