Fig. 1.

The milestone events associated with autism. Original description of autism was in 1940s, subsequently leading to a series of studies on the definition, diagnosis and treatment of autism in 1960s and 1970s. From the first twin study in 1977, people began to realize that autism as a common highly heritable neurodevelopmental disorder. Up to now, advances in WGS and WES have revealed patterns of inheritance and the types of genetic variation that result in ASD and studies in models have identified a mountain of evidence for molecular mechanisms for ASD. PDD pervasive developmental disorder, EEG electroencephalography, WGS whole gene sequencing, WES whole-exome sequencing