UMA VISÃO GENÉTICA DO TRANSTORNO DO ESPECTRO AUTISTA (TEA)

Abstract

Autism Spectrum Disorder (ASD) is recognized as a complex neurodevelopmental disorder, which encompasses a wide range of characteristics, manifesting itself variously in each affected individual. The detection and diagnosis of this disorder are based on the careful observation of behaviors that deviate from the typical pattern, standing out for the presence of deficiencies in communication, social interaction, and the manifestation of restricted and repetitive patterns of behavior, interests, or activities. This study set out to explore the intrinsic connection between Autism Spectrum Disorder and its hereditary basis. Through the detailed identification of the genes most consistently associated with ASD, we sought to better understand the heritability of these genes concerning the incidence of the disorder and its symptoms. In addition, some general factors correlated with neurodivergence were examined, thus broadening the understanding of the broader context in which ASD is inserted. Using a robust methodological approach, a comprehensive bibliographic survey was conducted, encompassing resources from virtual libraries and specialized literature on the possible relationship between certain genes and Autism Spectrum Disorder. The results highlighted the most prominent genes in studies in which polymorphisms were identified at different loci, providing a valuable understanding of those that have the greatest influence on the manifestation of the symptoms of the disorder. This in-depth understanding of the genetic aspects underlying ASD can significantly contribute to the development of more effective early diagnosis strategies and interventions.