Autism spectrum disorder (ASD) is a heterogeneous, behaviorally-defined neurodevelopmental disorder. Over the past two decades, the prevalence of ASD has increased progressively to about 14.7% in developed countries. Although the exact cause of autism is not clear, genetics appears to be a key factor. Environmental factors are also important causes of autism during the early stages of child growth and development. Many susceptibility genes/candidate genes have so far been identified, with studies showing that autism may occur because of mutations in genes that affect signaling pathways involved in brain development. These include the NLGN3/NLGN4X-NRXN1-SHANK3, mTOR, and RAS pathways. However, genetic factors cannot explain the heterogeneity of autism, and environmental factors such as prenatal and perinatal risk factors, drugs, and heavy metal exposure during pregnancy are also involved. Evidence suggests that the pathogenesis of ASD caused by genetics and environmental factors is closely associated with gene transcription, mRNA, functionally significant non-coding mRNA, altered synaptic signaling pathways, abnormal epigenetic post-translational modifications, and immune and inflammatory aspects. Therefore, the main goal of this topic is to provide readers with a deeper understanding of the genetic and environmental factors implicated in autism and the underlying pathological mechanism, and to communicate new ideas for the treatment of autistic children. Original research reports, review articles, communications, and perspectives in all areas pertinent to this topic are welcome.
Mingkuan Sun and Guanglin Xing
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