"Autism spectrum and genetics"

Abstract

The genetic etiology of spectrum disorders was first proposed by studies in the 1970s. More recently, genome-wide copy number variant and sequence analyses across the individual gene have revealed a list of rare and highly invasive variations of the copy number variants (CNVs) or single nucleotide variants (SNVs) associated with the autism spectrum, which is claimed. for genetic etiology of the disorder. Findings from research studies in the field of genetic factors associated with autism spectrum disorders lead to the emergence of their important role in their diagnosis and genetic evaluation.

Various molecular diagnostic tests, including single gene tests, targeted multiple gene frames, and copy number analyzes to be considered in the clinical genetic evaluation of autism spectrum disorders. The whole exome sequencing could also be considered in specific clinical cases. However, the challenge that remains is not determining the causal role of genetic variants identified through molecular testing. The variable expression, pleiotropic effects, and incomplete penetration associated with CNVs and SNVs also present significant challenges for counseling and prenatal diagnosis. Based on the above, the value of the genetic diagnosis of autism spectrum disorders becomes clear and so does the important contribution of the scientific community to the process of examining and highlighting the factors that lead to their manifestation. In this way, it is possible to highlight the nature of the disorder and to clarify aspects of it that to this day, many decades after its first observation, are not fully understood. The aspects of this development will be important for science, but also for society, people on the autism spectrum and their caregivers, education systems, health and welfare systems.

Therefore, it would be necessary to further examine the genetic aspects of autism spectrum disorders and to develop more accurate diagnosis methods, ideally methods that can lead to early diagnosis, that is more beneficial for the children that are diagnosed to be in the spectrum.  

AGGELI Ioanna