Resumo

ARBERAS, Claudia  e  RUGGIERI, Víctor. Autismo: Aspectos genéticos y biológicos. Medicina (B. Aires) [online]. 2019, vol.79, n.1, suppl.1, pp.16-21. ISSN 0025-7680.

Autism is a neurodevelopmental disorder characterized by commitment to social interaction and communication, associated with interests restricted and stereotyped behaviors with a high population prevalence, neurobiological bases and high heritability. Its etiology is heterogeneous, numerous genetic bases, environmental factors and epigenetic mechanisms have been recognized. Advances in molecular genetics, as well as epidemiological studies of large cohorts, have made it possible to identify specific medical entities, as well as genes and environmental factors partially or totally linked in their pathogenesis. This knowledge, according to the clinical characteristics, allows to guide the complementary studies, the therapeutic conducts, to infer a clinical prognosis and to propitiate the familiar genetic advice. In this work, the most prevalent clinical characteristics identified are described; the specific medical entities that are strongly related to autism are stated, as well as the recognized genes, the possible environmental factors and the epidemiological results that allow family counseling.

Palavras-chave : Autism; Epigenetic; Genes; Genomic hybridization; Heritability.

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