An integrative review of genetic testing for the diagnosis of autism spectrum disorder

The purpose of the study is to verify in the literature in a systematized way studies that prove the efficacy of genetic tests in the diagnosis of Autism Spectrum Disorder. Data were collected from the Research Databases of the Virtual Health Library and PubMed, using the combination of the following keywords: Genetic tests AND autistic spectrum disorder diagnosis. Articles from 1980 to 2020 were researched in the Portuguese, English and Spanish languages of national and international journals and included 17 full-text articles, in English, from PubMed to make up this study. The selection process of the studies was carried out by adapting the protocol to systematic PRISMA Flow Diagram reviews and characterized in a table. By the study selection method, the 17 articles were categorized into a table that was initially divided into five groups according to the genetic tests addressed. They were systematically subdivided into two definitive classes. The study gave relevance and visibility to the diagnostic yield of each test, in order to scientifically stimulate constant research for results that can positively influence the genetic counseling of each affected family. Thus, this Integrative Literature Review demonstrated the efficacy of genetic tests in search of the light of accuracy.