vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v13i3.1029vsp-193Research ArticleНЕПРЕРЫВНОЕ ПРОФЕССИОНАЛЬНОЕ ОБРАЗОВАНИЕPROFESSIONAL DEVELOPMENTПЕРСПЕКТИВЫ ДИАГНОСТИКИ РАССТРОЙСТВ АУТИСТИЧЕСКОГО СПЕКТРА У ДЕТЕЙPROSPECTS OF DIAGNOSTICS OF AUTISM SPECTRUM DISORDERS IN CHILDRENНовосёловаО. Г.NovoselovaO. G.

Novoselova Ol’ga Grigor’evna, junior research scientist of the Laboratory of Molecular and Genetic Diagnostics

lgnovoselova@gmail.comКаркашадзеГ. А.KarkashadzeG. A.lgnovoselova@gmail.comЖурковаН. В.ZhurkovaN. V.lgnovoselova@gmail.comМасловаО. И.MaslovaO. I.lgnovoselova@gmail.comНаучный центр здоровья детей, МоскваРоссияScientific Centre of Children Health, MoscowRussian Federation201419062014133Вопросы современной педиатрии6168Copyright © Новосёлова О.Г., Каркашадзе Г.А., Журкова Н.В., Маслова О.И., 20142014Новосёлова О.Г., Каркашадзе Г.А., Журкова Н.В., Маслова О.И.Novoselova O.G., Karkashadze G.A., Zhurkova N.V., Maslova O.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/193

В статье раскрывается актуальность проблемы расстройств аутистического спектра у детей и современный взгляд на этиологию и патогенез данных состояний. Рассматривается классификация аутизма согласно принятой в России Международной классификации болезней 10-го пересмотра и важные изменения нового классификатора Американской психиатрической ассоциации, касающиеся расстройств аутистического спектра. Упоминаются сложности, связанные диагностикой расстройств аутистического спектра у детей, коморбидность аутизма и ряда других психиатрических нозологий и необходимость тщательной дифференциальной диагностики в кругу этих заболеваний. Расстройства аутистического спектра представлены с точки зрения клинической генетики, доказывается необходимость медико-генетического консультирования при постановке диагноза. Дается определение комплексного и эссенциального аутизма. В группе комплексного аутизма выделен ряд распространенных генетических синдромов с описанием клинической картины и молекулярно-генетических механизмов, лежащих в основе патогенеза. Раскрываются сложности молекулярно-генетического подтверждения диагноза, приведены алгоритм поиска мутаций и краткое описание методов диагностики. В группе детей с эссенциальным аутизмом продемонстрирована эффективность стандартной процедуры молекулярно-генетической диагностики на каждом этапе, согласно литературным данным. На примере распространенных микроделеционных и микродупликационных синдромов освещены возможности и преимущества метода хромосомного микроматричного анализа как одного из доступных современных методов молекулярно-генетической диагностики в группе детей с расстройствами аутистического спектра.

The relevance of a problem of autism spectrum disorder in children and the modern view on etiology and pathogenesis of these states are revealed in the article. Autism classification according to the International classification of diseases of the 10th revision adopted in Russia and important changes of a new classifier of the American psychiatric association concerning autism spectrum disorders are considered. The difficulties connected with diagnostics of autism spectrum disorders in children, autism comorbidity and some other psychiatric nosologies and the necessity of detailed differential diagnostics for a circle of these diseases are mentioned. Autism spectrum disorders are presented from the point of view of clinical genetics, the necessity of medical genetic consultation in diagnosing is proved. Definition of complex and essential autism is given. A number of widespread genetic syndromes with the description of clinical characteristics and molecular genetic mechanisms underlying the pathogenesis is allocated in the group of complex autism. Difficulties of molecular genetic confirmation of the diagnosis are revealed, the algorithm of search of mutations and the short description of methods of diagnostics are given. The efficiency of standard procedure of molecular genetic diagnostics at each stage, according to literary data, is shown in the group of children with essential autism. The opportunities and advantages of a method of the chromosomal micromatrix analysis as one of available modern methods of molecular genetic diagnostics in the group of children with autism spectrum disorders are highlighted on the example of extended microdeletion and microduplicational syndromes.

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The authors declare that there are no conflicts of interest present.