perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2024-69-2-26-33perinatology-1967Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSФормирование когнитивных процессов у детей с аутизмом. Часть II. Генетические механизмыFormation of cognitive processes in children with autism. Part II. Genetic mechanismshttps://orcid.org/0000-0002-0091-2224ГлотовО. С.GlotovO. S.

Глотов Олег Сергеевич - д.б.н., зав. отделом вирусологических и молекулярно-генетических методов диагностики Детского научно-клинического центра инфекционных болезней; ст. науч. сотр. отдела геномной медицины; вед. науч. сотр. лаборатории исследований тактильной коммуникации департамента научной деятельности

199034 Санкт-Петербург, Менделеевская линия, д. 3

Saint Petersburg

Moscow

https://orcid.org/0000-0003-2464-7370ЧерновА. Н.ChernovA. N.

Чернов Александр Николаевич - к.б.н., ст. науч. сотр. отдела общей патологии и патофизиологии; науч. сотр. отдела геномной медицины

197376 Санкт-Петербург, ул. акад. Павлова, д. 12

Saint Petersburg

al.chernov@mail.ruCучкоП. A.SuchkoP. A.

Сучко Павел Александрович - студент IV курса кафедры молекулярной биотехнологии

190013 Санкт-Петербург, Московский проспект, д. 24–26/49 А

Saint Petersburg

https://orcid.org/0000-0002-4828-8053ЭйсмонтЮ. А.EismontYu. A.

Эйсмонт Юрий Александрович - к.б.н., ст. науч. сотр. научно-исследовательского отдела вирусологии и молекулярно-биологических методов исследования

197022 Санкт-Петербург, ул. профессора Попова, д. 9

Saint Petersburg

https://orcid.org/0000-0001-5112-7878МайороваЛ. А.MayorovaL. A.

Майорова Лариса Алексеевна - к.м.н., ст. науч. сотр. лаборатории физиологии сенсорных систем; ст. науч. сотр.; зав. лабораторией экспериментальной неврологии и нейровизуализации

117485 Москва, ул. Бутлерова, д. 5 А

Moscow

ФГБУ «Детский научно-клинический центр инфекционных болезней Федерального медико-биологического агентства»; ФГБНУ «Научно-исследовательский институт акушерства, гинекологии и репродуктологии им. Д.О. Отта»; ФГБОУ ВО «Государственный институт русского языка им. А.С. Пушкина»РоссияPediatric Research and Clinical Center for Infectious Diseases; Ott Research Institute of Obstetrics, Gynecology and Reproductology; Pushkin State Russian Language InstituteRussian FederationФГБНУ «Научно-исследовательский институт акушерства, гинекологии и репродуктологии им. Д.О. Отта»; ФГБНУ «Институт экспериментальной медицины»РоссияOtt Research Institute of Obstetrics, Gynecology and Reproductology; Institute of Experimental MedicineRussian FederationФГБОУ ВО «Санкт-Петербургский государственный технологический институт (технический университет)»РоссияSt. Petersburg State Technological Institute (Technical University)Russian FederationФГБУ «Детский научно-клинический центр инфекционных болезней Федерального медико-биологического агентства»РоссияPediatric Research and Clinical Center for Infectious DiseasesRussian FederationФГБОУ ВО «Государственный институт русского языка им. А.С. Пушкина»; ФГБУН «Институт высшей нервной деятельности и нейрофизиологии РАН»; ФБГНУ «Федеральный научно-клинический центр реаниматологии и реабилитологии»РоссияPediatric Research and Clinical Center for Infectious Diseases; Institute of Higher Nervous Activity and Neurophysiology; Federal Scientific and Clinical Center for Reanimatology and RehabilitationRussian Federation2024080520246922633Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20242024Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1967

Аутизм и расстройства аутистического спектра — нервно-психические заболевания, которые начинают проявляться у детей в возрасте до 3 лет. За последнее десятилетие число детей с расстройствами аутистического спектра увеличилось в 10 раз и продолжает расти, составляя 1–2% населения планеты. В настоящее время диагностика расстройств аутистического спектра основывается только на клинических и поведенческих тестах, а биологические и генетические маркеры, которые могли бы способствовать раннему выявлению этого расстройства, отсутствуют. Цель: на основе анализа современных данных литературы о симптомах, генетических этиологических факторах, ассоциированных с аутизмом, изучить возмож- ность использования генов в качестве диагностических биомаркеров у детей с расстройствами аутистического спектра. Анализ данных литературы свидетельствует, что в основе нарушений внимания, скорости обработки информации, рабочей памяти, обучения лежат генетические (патогенные варианты, SNP) изменения экспрессии многих генов: BDNF, CAPS2, CNTNAP2, GABRB3, FMR1, FOXP1, GTF2I, HSD11B2, MECP2, NF2, NGF, NR3C1, OXTR, PAK2, RELN, SLC6A4, UBE3A и др. Некоторые из этих генов (RELN) ассоциированы с тяжестью расстройств аутистического спектра.

Autism and autism spectrum disorders are neuropsychiatric diseases that begin to appear in children under 3 years. Over the past decade, the number of children with autism spectrum disorders has increased more than in 10-fold and continues to grow, accounting for 1–2% of the world’s population. Currently, the diagnosis of autism spectrum disorders is based only on clinical and behavioral tests, and there are no biological and genetic markers that could contribute to the early detection of this disorder. The review, based on the analysis of modern literature data about symptoms, genetic etiological factors that associated with autism, examines the possibility of using genes as diagnostic biomarkers in children with autism spectrum disorders. Analysis of literature data shows that disorders of attention, speed of information processing, working memory, learning are based on genetic (mutations, SNPs) and epigenetic (methylation) changes in the expression of many genes: BDNF, CAPS2, CNTNAP2, GABRB3, FMR1, FOXP1, GTF2I, HSD11B2, MECP2, NF2, NGF, NR3C1, OXTR, PAK2, RELN, SLC6A4, UBE3A, etc. Some of these genes (RELN) are associated with ASD severity.

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