Fatores genéticos associados ao Transtorno do Espectro Autista: uma revisão sistemática da literatura

Abstract

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction, alongside restricted and repetitive patterns of behavior, interests, or activities. Among the factors associated with its development, genetic factors play a fundamental role, suggesting heritability. Thus, this study aimed to investigate the main genetic and environmental factors associated with the development of ASD, a complex and multifactorial neurodevelopmental condition. This systematic review followed the recommended guidelines for this type of study, considering the study of the genes SHANK3, NRXN1, and MECP2, environmental factors, and genetic predispositions in the modulation of the disorder. The results revealed that mutations in the analyzed genes are important in neurological development and synapse formation, directly influencing the clinical characteristics of ASD. Furthermore, environmental factors, such as maternal infections, pollution, and advanced parental age, proved relevant in modulating symptoms, particularly when interacting with genetic predispositions. Epigenetics also stood out as an important mechanism for understanding the variability of symptoms, with alterations in DNA methylation associated with ASD expression. In conclusion, Autism Spectrum Disorder results from a complex interaction between genetic and environmental factors, with epigenetics emerging as a promising area for future research. Understanding this interaction is essential to improve early diagnosis and the development of more effective therapeutic interventions.