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Autism spectrum disorder (ASD) is characterized by deficits in social interaction and social communication, along with restricted and repetitive sensory-motor behaviors. The diagnosis of ASD includes various phenotypes outlined in the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM)-5. The comprehensive evaluation of each individual case with ASD is needed because many of them have comorbidity with number of neuropsychiatric disorders or somatic conditions. The growing number of genetic studies detected multiple rare variants with relatively large effect sizes. The results have revealed their common potential pathology including abnormal chromatin regulation, which induces epigenetic changes. More researches are expected to elucidate the pathogenesis of ASD and to develop therapeutic approaches.

The considerations for diagnosis of autism spectrum disorders and its pathogenic mechanisms