Pathogenetic aspects of the development of autism spectrum disorders

Author:

Stupak V. P.1ORCID,Keshishyan E. S.2ORCID,Garina S. V.3ORCID

Affiliation:

1. Bashlyaeva Children’s City Clinical Hospital

2. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University

3. National Research Ogarev Mordovia State University

Abstract

There is currently an increase in the number of patients diagnosed with autism spectrum disorders due to the broad interpretation of the criteria for this diagnosis and an actual increase in the number of children with impaired communication and behavioral functions. There are different in their cause, but clinically similar conditions that are attributed to this group. However, the difference in pathogenetic causes may require different approaches to treatment — selection of pharmacological and pedagogical methods of therapy and rehabilitation of these clinical conditions.In this article, we plan to discuss possible causes of idiopathic (primary) autism spectrum disorders complex, i.e., when there is no indication that the child has conditions or diseases that may lead to the autism spectrum disorders symptom complex (syndromal autism): perinatal disorders, microanomalies of brain structures, sluggish infections (e.g., CMV infection with smoldering encephalitis), and autoimmune brain damage, chromosomal and genetic diseases with an identified gene with pathogenic significance. When discussing autism spectrum disorders or autism without the above conditions, a genetic model is also assumed, but with the inclusion of a large number of candidate genes, without specifying a clear contribution of each gene to pathogenicity.Numerous studies show that the mechanism of these disorders in autochthonous disease is related to the disruption of synaptic transmission, changes in the ontogenesis of the nervous system in the context of combinations of genetic disorders, as well as the resulting mechanisms of autoinflammatory changes in the structures of the central nervous system. Changes in the permeability of the hematoencephalic barrier, inflammation and disturbance of the glymphatic system are also considered as probable mechanisms of autism spectrum disorders pathophysiology. As a result of impaired synaptogenesis, differentiation and neurogenesis, the resulting excitotoxicity of neurotransmitters and their metabolites, reliably contribute to the formation of the maintenance of this process.

Publisher

The National Academy of Pediatric Science and Innovation

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