Genetics and autism: demystifying discoveries

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by language deficits, social difficulties, and repetitive behaviors. Genetics plays a fundamental role in ASD, with studies suggesting substantial heritability in the condition. Law No. 12,764, known as the Berenice Piana Law, establishes guidelines for protecting the rights of people with ASD in Brazil. The methodology consisted of a literature review between January and March 2024, using databases such as Scielo, Pubmed, and LILACS. The reviewed studies highlight the association between genetic polymorphisms and the risk of developing ASD, as well as genetic diagnostic techniques. A holistic approach that considers genetic, environmental, and psychosocial factors is essential for a comprehensive understanding of autism. Although genetic studies have made significant advances, it is necessary to avoid a reductionist view of autism. Recent advances in genetics have provided a deeper understanding of ASD, but new questions arise, including the role of environmental factors and the ethical implications of genetic research.