Using the syndrome approach to the diagnosis of autism in children

Abstract

Autism spectrum disorders in children is a very urgent problem. Today, there is an increase in the number of children suffering from autism spectrum disorders around the world. The relevance of early diagnosis of autism spectrum disorders for timely treatment and correction is high. However, the diagnostic criteria for ASD require an assessment of certain psychomotor skills in a child, which mature much later than necessary for a timely diagnosis, so the diagnosis is made by 5-7 years. New clinical guidelines suggest that primary screening should be performed by a pediatrician. However, practice shows that in reality this does not happen. The reason for this is not only a contradiction in the diagnostic criteria, but also the current ICD-10 classification, which does not reflect the pathogenetic processes in the child's body. Despite this, new clinical guidelines recognize the role of genetic disorders and epigenetic factors in the development of autism spectrum disorders. In this regard, it is proposed to consider autism spectrum disorders as a syndrome that accompanies various genetic disorders, both chromosomal and monogenic anomalies. This approach enables early diagnosis of autism spectrum disorders, as well as the development of treatment and correction methods based on pathogenetic disorders. Currently, more than 100 genes associated with autism are known. In the above studies, it was noted that the polygenic nature of disorders in autism does not allow focusing on phenotypic features. Probably, this is the reason for the difficulties in diagnosing autism by external signs and the low efficiency of the currently known screening methods for diagnosing autism spectrum disorders. Therefore, autism spectrum disorders must be considered from the point of view of pathogenetic changes in the child's body, usually of a hereditary nature, which will allow us to offer effective methods of diagnosis, treatment and correction.