Autism Spectrum Disorder and Genetic Counseling.

Neurodevelopmental disorders are characterized by developmental deficits in cognition, language, behavior, and/or motor skills that result in impairments in personal, social, academic, and/or occupational functioning. Among chronic diseases in the pediatric age period (between 3-17 years of age), the most common reason for applying to primary healthcare services is neurodevelopmental disorders. Autism spectrum disorder (ASD) is one of them. Copy number variations (CNVs) are recommended as the first-line genetic test for ASD in guidelines. When the data of 11 studies examining CNVs are examined, it has a diagnostic rate of 1.5-20.5% (average 8.1%) in the diagnosis of ASD. Among these CNVs, variants of uncertain significance are most challenging conditions. In this case, it should be evaluated whether the detected variant relevantly associated with phenotype, whether there are previously reported cases involving a similar region, whether the breakpoints match, whether it is de novo/familial, whether it is related to SNVs in the same gene. In a meta-analysis study investigating the Exome Sequencing method, which included ASD cases, the diagnosis rate was found to be 8-26% (average 15%). As a conclusion genetic tests and genetic counseling providing information about the risk of other individuals in the family, risk of recurrence, preimplantation genetic diagnosis and prenatal diagnosis is important for family planning. [ABSTRACT FROM AUTHOR]