Last update:
05-Aug-2017

Autism spectrum disorders (ASDs) are a set of neurodevelopmental disorders characterized by impaired capacity for social interaction, stereotyped behaviors and problems in the use of language. They are divided into syndromic and non-syndromic disorders. Over the past few years, significant progress has been made in identifying the mechanisms that contribute to the pathogenesis of ASDs and it has become evident that these exhibit great heterogeneity. Specifically, the emergence of an ASD phenotype may result from the contribution of both genetic mechanisms (such as the presence of specific copy number variations [CNVs], point mutations or microscopically detectable chromosomal abnormalities), and epigenetic modifications. In addition, exposure to certain environmental factors and a combination of some of the above mechanisms can all eventually lead to an ASD phenotype. ASDs have been associated with various well-known monogenic disorders, including Fragile X syndrome and Rett syndrome, and also with certain metabolic diseases, and present in a much higher frequency in males. Despite the fact that a number of theories and models concerning the interpretation of this phenomenon have been proposed, none of them has been confirmed yet.

Key words: Autism spectrum disorders, CNVs, Epigenetic modifications, Metabolic disorders, Monogenic disorders.