Обоснование

psychiatry

ПСИХИАТРИЯ

Psychiatry (Moscow) (Psikhiatriya)

1683-83192618-6667

FSBSI “The Mental Health Research Centre”; LLC «Publisher «MIA»

10.30629/2618-6667-2024-22-1-90-98

psychiatry-1102

Research Article

НАУЧНЫЕ ОБЗОРЫ

SCIENTIFIC REVIEWS

Нарушения нейропсихического развития, обусловленные генетическими дефектами структуры рецепторов глутаматергической системы

Neurodevelopmental Disorders Caused by Genetic Defects in Structure of Glutamatergic Receptors

https://orcid.org/0000-0003-2505-741X

Абрамов

А. В.

Abramov

A. V.

Александр Викторович Абрамов, младший научный сотрудник, научно-организационный отдел, преподаватель учебно-методического отдела, врач-психиатр детский

Москва

Aleksandr V. Abramov, Junior Researcher, Scientific and Organizational Department, Teacher, Educational andMethodological Department, Child Psychiatrist

Moscow

dr.aabramov@gmail.com

https://orcid.org/0000-0002-1937-5908

Макушкин

Е. В.

Makushkin

E. V.

Евгений Вадимович Макушкин, доктор медицинских наук, профессор, главный внештатный детский специалист–психиатр; начальник научно-медицинскогоцентра детской психиатрии; главный научный сотрудник

Москва

Evgenii V. Makushkin, Dr. of Sci. (Med.), Professor, Chief Untenured Specialist Child Psychiatrist; Head of the Scientific and Medical Center of Child Psychiatry; ChiefResearcher

Moscow

evm14@list.ru

ГБУЗ «Научно-практический центр психического здоровья детей и подростков им. Г.Е. Сухаревой Департамента здравоохранения г. Москвы»; ФГАУ «Национальный медицинский исследовательский центр здоровья детей» Министерства здравоохранения Российской ФедерацииРоссияScientific and Practical Center for Mental Health of Children and Adolescents named after G.E. Sukhareva; Federal State Autonomous Institution «Scientific Center of Children’s Health» of the Ministry of Health of the Russian FederationRussian Federation

ФГАУ «Национальный медицинский исследовательский центр здоровья детей» Министерства здравоохранения Российской Федерации; ФГБНУ «Научный центр психического здоровья»РоссияFederal State Autonomous Institution «Scientific Center of Children’s Health» of the Ministry of Health of the Russian Federation; FSBSI «Mental Health Research Centre»Russian Federation

2024

01032024

2219098

2024

Абрамов А.В., Макушкин Е.В.

Abramov A.V., Makushkin E.V.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.journalpsychiatry.com/jour/article/view/1102

Обоснование

Обоснование: в последние десятилетия происходит активное изучение роли дисфункции глутаматных рецепторов в генезе психических расстройств, неврологической и аутоиммунной патологии, онкологических и иных заболеваний. Ведется разработка лекарственных препаратов, воздействующих на глутаматергические рецепторы.

Цель

Цель: изложить современные представления о вторичных расстройствах нейропсихического развития (согласно кодификации Международной классификации болезней 11-го пересмотра, блок L1-6E60), ассоциированных с генетически обусловленными нарушениями структуры глутаматергических рецепторов.

Материал и методы

Материал и методы: был проведен поиск и анализ описаний случаев нарушенного нейропсихического развития, ассоциированных с генетическими обусловленными дефектами субъединиц ионотропных и метаботропных глутаматных рецепторов в научных библиотеках MEDLINE/Gene database, MEDLINE/PubMed, Online Mendelian Inheritance in Man (OMIM), UniProt, ClinGen, eLibrary.

Заключение

Заключение: генетически обусловленные нарушения большинства известных ионотропных (GluA, GluN, GluK, GluD) и ряда метаботропных глутаматных рецепторов (mGluR1, 5, 7) ассоциированы с тяжелыми вариантами расстройств нейропсихического развития с манифестом в младенческом периоде и раннем детстве. Представленные разнообразные симптомы определяют транснозологический подход к диагностике и ведению пациентов, требующий привлечения специалистов в области педиатрии, детской психиатрии, неврологии, генетики и медико-социальной реабилитации.

Background

Background: the role of glutamate receptor dysfunction in mental disorders, neurological, autoimmune, and oncological pathology has been intensively investigated in the past decade. The development of drugs that target glutamatergic receptors has also been a focus of research.

The aim was to describe modern concepts of neurodevelopmental disorders (according to the International Classification of Diseases 11th revision, L1-6A0) that are associated with genetically induced alterations of the structure of glutamatergic receptors.

Material and method

Material and method: a search for descriptions of cases with impaired neuropsychiatric development associated with genetic defects of ionotropic and metabotropic glutamate receptor subunits was performed in the MEDLINE/Gene database, MEDLINE/PubMed scientific library, Online Mendelian Inheritance in Man (OMIM), UniProt, ClinGen and eLibrary. Genetically induced structural abnormalities of most known ionotropic (GluA, GluN, GluK, GluD) and a number of metabotropic glutamate receptors (mGluR1, 5, 7) are associated with severe variants of neuropsychiatric disorders that manifest in infancy and early childhood.

Conclusion

Conclusion: the considerable variation in the clinical presentation of these cases demands a transnosological approach to diagnosis and management of patients, under cooperation of specialists in pediatrics, child psychiatry, neurology, genetics, and medical and social rehabilitation.

нарушения нейропсихического развитиянарушения интеллектуального развитиярасстройства аутистического спектраглутаматглутаматные рецепторыгенетика

neurodevelopmental disordersintellectual development disordersautism spectrum disordersglutamateglutamate receptorsgenetics

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