Research Progress on Genetic and Environmental Risk Factors, Clinical Manifestations, and Intervention Strategies of Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized primarily by deficits in social communication and repetitive, stereotyped behaviors. Its global prevalence has continued to rise, making it a significant public health concern. This paper provides a systematic review of recent research on the genetic and environmental risk factors, clinical manifestations, and intervention strategies related to ASD. Genetic studies indicate that the heritability of ASD is approximately 50%, and genome-wide association studies (GWAS) as well as copy number variation (CNV) analyses have revealed the potential involvement of cadherin genes (such as CDH10 and CDH9) and genes related to synaptic function. However, the genetic mechanisms underlying 75% of cases remain unclear. In terms of environmental factors, advanced paternal age, maternal infections during pregnancy, chemical exposures, and perinatal complications have all been shown to significantly increase the risk of ASD, with gene-environment interactions becoming a focal point of current research. Clinically, the core symptoms of ASD include social communication deficits and repetitive behaviors, while comorbid sensory abnormalities and psychiatric disorders (such as anxiety and ADHD) further complicate treatment. Behavioral therapies remain the primary intervention approach; applied behavior analysis (ABA), the Early Start Denver Model (ESDM), and function-based comprehensive interventions have proven effective in improving patient functioning. Pharmacological treatments (such as risperidone and aripiprazole) are mainly used to alleviate secondary symptoms, but there is still a lack of targeted therapies for core social deficits. Future research should integrate precision medicine and interdisciplinary collaboration to explore innovative treatments, including neuroimmune modulation and gene editing, aiming to improve patients quality of life and reduce the societal burden.