PrirodaPrirodaПрирода0032-874XAkademizdatcenter Nauka62778910.7868/S0032874X23040026ArticlesСтатьиResearch ArticleAutism Spectrum Disorders: Looking for a Prism to Break Up for the SubtypesРасстройства аутистического спектра: в поисках призмы для разделения на отдельные подтипыTrifonovaE. AТрифоноваЕ. Аet@bionet.nsc.ruPashchenkoA. AПащенкоА. АLashinS. AЛашинС. АInstitute of Cytology and Genetics, Siberian Branch of the Russian Academy of SciencesИнститут цитологии и генетики СО РАНNovosibirsk State UniversityНовосибирский государственный университет300420234NO4 (2023)№4 (2023)142001032024Copyright ©; 2023, Издательство «Наука»2023Издательство «Наука»https://journals.eco-vector.com/0032-874X/article/view/627789

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder, currently diagnosed in more than 2% of children. The core symptoms of ASD are impairments in communicative and social functions and narrow and repetitive pattern of behavior. ASD is characterized by both symptomatic and genetic heterogeneity, which is an obstacle to the development of effective therapy. The recognition of several subtypes of autism according to the common pathogenic mechanisms is becoming increasingly relevant. One of such subtypes is autism associated with maternal immune activation in pregnancy, that activates production of autoantibodies to fetal neuronal proteins and thereby disruption of normal neurodevelopment. Other difficulties in ASD differential diagnosis bring PANS/PANDAS syndromes — post-infectious autoimmune sequelae with pronounced neuropsychiatric symptoms. The connection of genetic and immune ASD patterns with the mTOR signaling pathway, frequently hyperactivated in autism, is also discussed.

Расстройства аутистического спектра (РАС) — это сложное нарушение нейропсихического развития, диагностируемое в настоящее время более, чем у 2 % детей. Основные симптомы РАС: снижение коммуникативных и социальных функций, повышение стереотипий во всех формах поведения. Для РАС характерна как симптоматическая, так и генетическая гетерогенность, что является препятствием для разработки эффективной терапии. Разделение аутизма на несколько подтипов, основанных на общих патогенетических механизмах, становится все более актуальным. Одним из таких подтипов стал аутизм, связанный с материнской иммунной активацией в процессе беременности, в результате которого организмом матери нарабатываются аутоантитела к нейрональным белкам плода и тем самым нарушается нормальное нейроразвитие. Другими сложными для дифференциальной диагностики РАС считаются синдромы PANS/PANDAS — постинфекционные аутоиммунные осложнения, имеющие ярко выраженную нейропсихическую симптоматику. Также обсуждается связь генетических и иммунных нарушений при РАС с сигнальным путем mTOR, гиперактивация которого часто наблюдается при аутизме.

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