GENETIC TESTS AS AUXILIARY TOOLS FOR THE DIAGNOSIS OF AUTISTIC SPECTRUM DISORDER

Abstract

According to data from the World Health Organization (WHO) 7.6 million children are Born with some genetic disorder each year, among these disorders stands out Autistic Spectrum Disorder (ASD). This condition is defined as a set of neuro develop mental disorders that compromise social, communication and behavioral skills, present different degrees of impairment and maybe associated with other disorders. Epidemiological studies show that the prevalence of ASD increase severy year, being more common in males. It is also considered as a multifactorial and heterogeneous spectrum, which makes it difficult to identify its etiology in each particular patient. This scenario hás changed substantially in recent decades, due to the development of knowledge about the genetic and molecular aspects of autism, as well as the improvement of biotechnological tools for diagnosis. Currently, some genetic tests can be performed to screen for the condition, such as: PCR, karyotype, CGH-arrays and sequencing, which together with the patient's clinical history contribute to the outcome of the diagnosis. Thus, this article provides a survey of the main tests available to assist in the diagnosis of children with suspected ASD, including advantages, disadvantages and their influence on therapeutic conduct and genetic counseling, based on a literature review.