Using the syndrome approach to the diagnosis of autism in children

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 dia...

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Main Author: E. A. Tkachuk
Format: Article
Language:Russian
Published: Remedium Group LLC 2022-07-01
Series:Медицинский совет
Subjects:
Online Access:https://www.med-sovet.pro/jour/article/view/6976
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author E. A. Tkachuk
author_facet E. A. Tkachuk
author_sort E. A. Tkachuk
collection DOAJ
description 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.
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spelling doaj.art-95c1f6cdf6e74d43a065d2234cde6cee2023-04-23T06:57:03ZrusRemedium Group LLCМедицинский совет2079-701X2658-57902022-07-0101220020410.21518/2079-701X-2022-16-12-200-2046245Using the syndrome approach to the diagnosis of autism in childrenE. A. Tkachuk0Irkutsk State Medical University; Scientific Center for Family Health and Human Reproduction; East Siberian Institute of Medical and Environmental ResearchAutism 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.https://www.med-sovet.pro/jour/article/view/6976autismscreening diagnosis of autismchildrenearly diagnosis of autismsyndromic approach
spellingShingle E. A. Tkachuk
Using the syndrome approach to the diagnosis of autism in children
Медицинский совет
autism
screening diagnosis of autism
children
early diagnosis of autism
syndromic approach
title Using the syndrome approach to the diagnosis of autism in children
title_full Using the syndrome approach to the diagnosis of autism in children
title_fullStr Using the syndrome approach to the diagnosis of autism in children
title_full_unstemmed Using the syndrome approach to the diagnosis of autism in children
title_short Using the syndrome approach to the diagnosis of autism in children
title_sort using the syndrome approach to the diagnosis of autism in children
topic autism
screening diagnosis of autism
children
early diagnosis of autism
syndromic approach
url https://www.med-sovet.pro/jour/article/view/6976
work_keys_str_mv AT eatkachuk usingthesyndromeapproachtothediagnosisofautisminchildren