Gli autismi

Th is article reviews all forms of autisms due to known etiologies, including (a) “classical” syndromic forms, (b) mitochondrial disorders, (c) autisms due to small chromosomal rearrangements (Copy Number Variants), (d) syndromic autisms of monogenic nature due to mutations aff ecting single genes involved in the structure and function of synapses, the packaging of DNA into chromatin, the regulation of cell cycle and morphogenesis, calcium signalling, as well as (e) environmental autisms due to teratogenic drugs, such as valproic acid, misoprostol and thalidomide, or prenatal infections with rubella or cytomegalovirus. Whenever present, signs and symptoms which should spur targetted diagnostic testing are outlined. Progress in our understanding of the biochemical and genetic underpinnings of autism spectrum disorder should pave the path toward pharmacological treatments targeted toward the core symptoms of autism and not merely toward comornid conditions, as suggested by the exciting therapeutic results recently obtained in several animal models of syndromic autisms.