Molecular genetics of autism spectrum disorder

Abstract

Autism Spectrum Disorders are a group of heterogeneous neuropsychiatric disorders in both their phenotype as in their aetiology. The importance of the issue lies in the increased prevalence, currently being the worldwide prevalence 60 to 90/10,000. In Uruguay there´s no epidemiological data on these and other developmental disorders, but it is estimated that there are approximately between 6 to 7 cases every 1,000 people. The following monographic work attempts to update on the aetiology, diagnosis, and applications of molecular genetics in the Autism Spectrum Disorders, in order to contribute to their understanding, generating a useful tool for health professionals. These disorders are one of child psychiatry’s pathology with greater impact in family dynamics and it is crucial to highlight the importance of the genetic component in their aetiology. It has become evident, in both classical genetics studies and through new technologies such as Genome Wide Association Studies, microarrays and complete genome sequencing, the role that genetics plays in the aetiology of these disorders. The knowledge of the genetic basis that underlies the Autism Spectrum Disorders makes it possible to detect cases according to a genetic profile that will help to find groups with similar phenotypes. In the future, this will allow us to develop preventive measures, early diagnosis and lead treatment according to their etiologic basis, which will have a greater impact on the prognosis of these patients.