rospedРоссийский педиатрический журнал имени М.Я. СтуденикинаM.Ya. Studenikin Russian Pediatric JournalФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/1560-9561-2023-26-1-4-13nlyjxorosped-31Research ArticleЮБИЛЕЙANNIVERSARYГеоргий Несторович Сперанский и педиатрия XXI векаGeorgy Nestorovich Speransky and Pediatrics of the XXI centuryhttps://orcid.org/0000-0001-8586-7946ФисенкоАндрей ПетровичFisenkoAndrey P.

Директор ФГАУ «НМИЦ здоровья детей» Минздрава России.

e-mail: director@nczd.ru

MD, PhD, DSci., Professor, Honoured Physician of the Russian Federation, Director of the National Medical Research Center for Children’s Health, Moscow, 119991, Russian Federation.

e-mail: director@nczd.ru

director@nczd.ruФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииNational Medical Research Center for Children’s Health202307092023261413Copyright © Фисенко А.П., 20232023Фисенко А.П.Fisenko A.P.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.rosped.ru/jour/article/view/31

Статья посвящена основоположнику отечественной неонатологии, одному из инициаторов и активных строителей советской системы охраны материнства и младенчества, организатору и руководителю первого отечественного научно-исследовательского учреждения в области педиатрии Георгию Несторовичу Сперанскому. Последовательно описаны этапы многогранной деятельности Г.Н. Сперанского по организации отечественной системы охраны материнства и младенчества, созданию неонатологии как научной дисциплины, подготовке и повышению квалификации педиатров и врачей-неонатологов, введению новой системы специализированного обучения педиатров на педиатрических факультетах, активизации деятельности научных обществ детских врачей. Указаны пути дальнейшего развития отечественной педиатрии, новые горизонты в создании и реализации отечественных и глобальных педиатрических проектов, направленных на улучшение качества жизни и своевременное комплексное оказание медицинской помощи детям.

Участие авторов

Участие авторов: концепция и дизайн, написание текста, ответственность за целостность всех частей статьи — автор.

Финансирование

Финансирование. Исследование не имело финансовой поддержки.

Конфликт интересов

Конфликт интересов. Автор подтверждает отсутствие конфликта интересов.

Поступила 29

Поступила 29.12.2022Принята к печати 17.01.2023Опубликована 28.02.2023

The article is devoted to the founder of Russian neonatology, one of the initiators and active builders of the Soviet system of maternity and infancy care, the manager and head of the first domestic research institution in the field of pediatrics, George Nestorovich Speransky. There are consistently described stages of G.N. Speransky multifaceted activity on the management of the national system of maternity and infancy care, the creation of neonatology as a scientific discipline, the education and advanced training of pediatricians and neonato­logists, the introduction of a new system of specialized training of pediatricians at pediatric faculties, the activation of scientific societies of pediatricians. The ways of the further development of domestic pediatrics, new horizons in the creation and implementation of domestic and global pediatric projects aimed at improving the quality of life and timely comprehensive medical care for children are indicated.

Contribution

Contribution: study conception and design, drafting of the manuscript, critical revision — Fisenko A.P. The author is responsible for the integrity of all parts of the article.

Funding

Funding. This research did not receive any specific funding.

Conflict of interests

Conflict of interests. The author confirms that there is no conflict of interest.

Received

Received: December 29, 2022Accepted: January 17, 2023Published: February 28, 2023

детиГ.Н. Сперанскийпедиатриянеонатологиянеонатальный скринингсетевые технологииповышение квалификации педиатровchildrenG.N. Speranskypediatricsneonatologyneonatal screeningnetwork technologiesadvanced training of pediatriciansReferencesЧумаевская О.А. Г.Н. Сперанский. М.: Медицина; 1973.Chumaevskaya O.A. G.N. Speransky [G.N. Speranskiy]. Moscow: Meditsina; 1973. (in Russian)Сперанский Г.Н. Физиология ребенка и его болезни. В кн.: Сочинения Ассистента Московской детской клиники Г.Н. Сперанского. М.: М. Викулов и Кo; 1909.Speranskiy G.N. The physiology of the child and his diseases. In: Essays of Assistant of the Moscow Children’s Clinic named after G.N. Speransky [Sochineniya Assistenta Moskovskoy detskoy kliniki G.N. Speranskogo]. Moscow: M. Vikulov i Ko; 1909. (in Russian)Микиртичан Г.Л. Основные этапы развития отечественной педиатрии. История медицины. 2014; (1): 46–60.Mikirtichan G.L. Main stages in the development of pediatrics in Russia. Istoriya meditsiny. 2014; (1): 46–60. (in Russian)Овсянников А.А. Главный детский доктор. Г.Н. Сперанскому посвящается… М.: М-Студио; 2009.Ovsyannikov A.A. Chief Children’s Doctor. Dedicated to G.N. Speransky... [Glavnyy detskiy doktor. G.N. Speranskomu posvyashchaetsya]. Moscow: M-Studio; 2009. (in Russian)Микиртичан Г.Л., Суворова Р.В. История отечественной педиатрии. СПб.; 1988.Mikirtichan G.L., Suvorova R.V. History of Russian Pediatrics [Istoriya otechestvennoy pediatrii]. St. Perersburg; 1988. (in Russian)Фисенко А.П. 100 лет научно-исследовательскому институту педиатрии имени Г.Н. Сперанского. Российский педиатрический журнал. 2022; 25(5) 296–305. https://doi.org/10.46563/1560-9561-2022-25-5-296-305Fisenko A.P. One hundred years of the Research Institute of Pediatrics named after G.N. Speransky. Rossiyskiy pediatricheskiy zhurnal. 2022; 25(5) 296–305. https://doi.org/10.46563/1560-9561-2022-25-5-296-305 (in Russian)Сперанский Г.Н. Государственный научный институт охраны материнства и младенчества. Журнал по изучению раннего детского возраста. 1927; 6(3): 253–7.Speranskiy G.N. State Scientific Institute of Maternity and Infancy Protection. Zhurnal po izucheniyu rannego detskogo vozrasta. 1927; 6(3): 253–7. (in Russian)Зборовская Ф.И., Сперанский Г.Н., ред. Влияние института педиатрии на развитие лечебно-профилактической помощи детям в СССР. В кн.: XXV лет института педиатрии. Юбилейный сборник. М.: АМН СССР; 1947: 10–22.Zborovskaya F.I., Speranskiy G.N., eds. The influence of the Institute of Pediatrics on the development of therapeutic and preventive care of children in the USSR. In: XXV years of the Institute of Pediatrics. Jubilee Collection [XXV let instituta pediatrii. Yubileynyy sbornik]. Moscow: AMN SSSR; 1947: 10–22. (in Russian)НМИЦ здоровья детей. Летопись ФГАУ «НМИЦ здоровья детей» Минздрава России. М.: Полиграфист и издатель; 2020.NMIC for Children’s Health. The Chronicle of the FSAU “NMIC for Children’s Health” of the Ministry of Health of Russia. [Letopis’ FGAU «NMIC zdorov’ya detey» Minzdrava Rossii]. Moscow: Poligrafist i izdatel’; 2020. (in Russian)Redhead D., Power E.A. Social hierarchies and social networks in humans. Philos. Trans. R Soc. Lond. B Biol. Sci. 2022; 377(1845): 20200440. https://doi.org/10.1098/rstb.2020.0440Redhead D., Power E.A. Social hierarchies and social networks in humans. Philos. Trans. R Soc. Lond. B Biol. Sci. 2022; 377(1845): 20200440. https://doi.org/10.1098/rstb.2020.0440Melamed D., Simpson B., Montgomery B., Patel V. Inequality and cooperation in social networks. Sci. Rep. 2022; 12(1): 6789. https://doi.org/10.1038/s41598-022-10733-8Melamed D., Simpson B., Montgomery B., Patel V. Inequality and cooperation in social networks. Sci. Rep. 2022; 12(1): 6789. https://doi.org/10.1038/s41598-022-10733-8Сперанский Г.Н. Вопросы научно-исследовательской работы по отделу педиатрии раннего возраста на вторую пятилетку. Журнал по раннему детскому возрасту. 1933; 13(1): 6–12.Speranskiy G.N. Questions of research work on the Department of pediatrics of early age for the second five-year plan. Zhurnal po rannemu detskomu vozrastu. 1933; 13(1): 6–12. (in Russian)Зборовская Ф.И., Сперанский Г.Н., ред. XXV лет института педиатрии. Юбилейный сборник. М.: АМН СССР; 1947.Zborovskaya F.I., Speranskiy G.N., eds. XXV years of the Institute of Pediatrics. Jubilee Collection [XXV let instituta pediatrii. Yubileynyy sbornik]. Moscow: AMN SSSR; 1947: 10–22. (in Russian)Фисенко А.П. Охрана здоровья детей в России: история и задачи Десятилетия детства (к 255-летию государственной системы охраны здоровья детей). Российский педиатрический журнал. 2018; 21(5): 260–5. https://doi.org/10.18821/1560-9561-2018-21-5-260-265Fisenko A.P. Children’s health in Russia: history and tasks of the decade of childhood (to the 255th anniversary of the state system of child health). Rossiyskiy pediatricheskiy zhurnal. 2018; 21(5): 260–5. https://doi.org/10.18821/1560-9561-2018-21-5-260-265 (in Russian)Кнопов М.Ш., Тарануха В.К. Академик Г.Н. Сперанский – один из основоположников отечественной педиатрии (к 140-летию со дня рождения). Российский педиатрический журнал. 2013; (3): 62–4.Knopov M.Sh., Taranukha V.K. Academician G.N. Speransky is one of founders of the national pediatrics (To the 140th anniversary of his birth). Rossiyskiy pediatricheskiy zhurnal. 2013; (3): 62–4. (in Russian)Корсунский А.А., Смирнова Г.И. История кафедры педиатрии и детских инфекционных болезней педиатрического факультета Первого Московского государственного медицинского университета им. И.М. Сеченова: краткий очерк. Российский педиатрический журнал. 2015; 18(1): 60–5.Korsunskiy A.A., Smirnova G.I. History of the Chair of Pediatrics and Pediatric Infectious Diseases, Faculty of Pediatrics of the I.M. Sechenov First Moscow State Medical University: An epitome of the history. Rossiyskiy pediatricheskiy zhurnal. 2015; 18(1): 60–5. (in Russian)Сперанский Г.Н. Как кормить ребенка до года. Советы родителям. М.: Медгиз; 1956.Speranskiy G.N. How to Feed a Child Up to a Year. Advice to Parents [Kak kormit’ rebenka do goda. Sovety roditelyam]. Moscow: Medgiz; 1956. (in Russian)Сперанский Г.Н. Классификация расстройств питания детей раннего возраста. М.: ОММ; 1927.Speranskiy G.N. Classification of Eating Disorders in Young Children [Klassifikatsiya rasstroystv pitaniya detey rannego vozrasta]. Moscow: OMM; 1927. (in Russian)Meier P.P. More evidence: Mothers’ own milk is personalized medicine for very low birthweight infants. Cell Rep. Med. 2022; 3(8): 100710. https://doi.org/10.1016/j.xcrm.2022.100710Meier P.P. More evidence: Mothers’ own milk is personalized medicine for very low birthweight infants. Cell Rep. Med. 2022; 3(8): 100710. https://doi.org/10.1016/j.xcrm.2022.100710Kumbhare S.V., Jones W.D., Fast S., Bonner C., Jong G., Domselaar G.V., et al. Source of human milk (mother or donor) is more important than fortifier type (human or bovine) in shaping the preterm infant microbiome. Cell Rep. Med. 2022; 3(9): 100712. https://doi.org/10.1016/j.xcrm.2022.100712Kumbhare S.V., Jones W.D., Fast S., Bonner C., Jong G., Domselaar G.V., et al. Source of human milk (mother or donor) is more important than fortifier type (human or bovine) in shaping the preterm infant microbiome. Cell Rep. Med. 2022; 3(9): 100712. https://doi.org/10.1016/j.xcrm.2022.100712Aguilar-Lopez M., Wetzel C., MacDonald A., Ho T.T.B., Donovan S.M. Metagenomic profile of the fecal microbiome of preterm infants consuming mother’s own milk with bovine milk-based fortifier or infant formula: a cross-sectional study. Am. J. Clin. Nutr. 2022; 116(2): 435–45. https://doi.org/10.1093/ajcn/nqac081Aguilar-Lopez M., Wetzel C., MacDonald A., Ho T.T.B., Donovan S.M. Metagenomic profile of the fecal microbiome of preterm infants consuming mother’s own milk with bovine milk-based fortifier or infant formula: a cross-sectional study. Am. J. Clin. Nutr. 2022; 116(2): 435–45. https://doi.org/10.1093/ajcn/nqac081Ford S.L., Lohmann P., Preidis G.A., Gordon P.S., O’Donnell A., Hagan J., et al. Improved feeding tolerance and growth are linked to increased gut microbial community diversity in very-low-birth-weight infants fed mother’s own milk compared with donor breast milk. Am. J. Clin. Nutr. 2019; 109(4): 1088–97. https://doi.org/10.1093/ajcn/nqz006Ford S.L., Lohmann P., Preidis G.A., Gordon P.S., O’Donnell A., Hagan J., et al. Improved feeding tolerance and growth are linked to increased gut microbial community diversity in very-low-birth-weight infants fed mother’s own milk compared with donor breast milk. Am. J. Clin. Nutr. 2019; 109(4): 1088–97. https://doi.org/10.1093/ajcn/nqz006Cai C., Zhang Z., Morales M., Wang Y., Khafipour E., Friel J. Feeding practice influences gut microbiome composition in very low birth weight preterm infants and the association with oxidative stress: A prospective cohort study. Free Radic. Biol. Med. 2019; 142: 146–54. https://doi.org/10.1016/j.freeradbiomed.2019.02.032Cai C., Zhang Z., Morales M., Wang Y., Khafipour E., Friel J. Feeding practice influences gut microbiome composition in very low birth weight preterm infants and the association with oxidative stress: A prospective cohort study. Free Radic. Biol. Med. 2019; 142: 146–54. https://doi.org/10.1016/j.freeradbiomed.2019.02.032Henrick B.M., Rodriguez L., Lakshmikanth T., Pou C., Henckel E., Arzoomand A., et al. Bifidobacteria-mediated immune system imprinting early in life. Cell. 2021; 184(15): 3884–98.e11. https://doi.org/10.1016/j.cell.2021.05.030.Henrick B.M., Rodriguez L., Lakshmikanth T., Pou C., Henckel E., Arzoomand A., et al. Bifidobacteria-mediated immune system imprinting early in life. Cell. 2021; 184(15): 3884–98.e11. https://doi.org/10.1016/j.cell.2021.05.030.Mimouni F.B., Nathan N., Ziegler E.E., Lubetzky R., Mandel D. The use of multinutrient human milk fortifiers in preterm infants: a systematic review of unanswered questions. Clin. Perinatol. 2017; 44(1): 173–8. https://doi.org/10.1016/j.clp.2016.11.011Mimouni F.B., Nathan N., Ziegler E.E., Lubetzky R., Mandel D. The use of multinutrient human milk fortifiers in preterm infants: a systematic review of unanswered questions. Clin. Perinatol. 2017; 44(1): 173–8. https://doi.org/10.1016/j.clp.2016.11.011Gao C., Miller J., Collins C.T., Rumbold A.R. Comparison of different protein concentrations of human milk fortifier for promoting growth and neurological development in preterm infants. Cochrane Database Syst. Rev. 2020; 11(11): CD007090. https://doi.org/10.1002/14651858.CD007090.pub2Gao C., Miller J., Collins C.T., Rumbold A.R. Comparison of different protein concentrations of human milk fortifier for promoting growth and neurological development in preterm infants. Cochrane Database Syst. Rev. 2020; 11(11): CD007090. https://doi.org/10.1002/14651858.CD007090.pub2Molloy E.J., El-Dib M., Juul S.E., Benders M., Gonzalez F., Bearer C., et al. Neuroprotective therapies in the NICU in term infants: present and future. Pediatr. Res. 2022. https://doi.org/10.1038/s41390-022-02295-2Molloy E.J., El-Dib M., Juul S.E., Benders M., Gonzalez F., Bearer C., et al. Neuroprotective therapies in the NICU in term infants: present and future. Pediatr. Res. 2022. https://doi.org/10.1038/s41390-022-02295-2Моисеева К.Е. Мониторинг состояния медицинской помощи новорожденным в организациях родовспоможения Российской Федерации. Российский педиатрический журнал. 2020; 23(1): 28–34. https://doi.org/10.18821/1560-9561-2020-23-1-28-34Moiseeva K.E. Monitoring the state of medical care to newborns in the birth care facilities of the Russian Federation. Rossiyskiy pediatricheskiy zhurnal. 2020; 23(1): 28–34. https://doi.org/10.18821/1560-9561-2020-23-1-28-34 (in Russian)Воронин С.В., Куцев С.И. Неонатальный скрининг на наследственные заболевания в России: вчера, сегодня, завтра. Неонатология: Новости. Мнения. Обучение. 2022; 10(4): 34–9. https://doi.org/10.33029/2308-2402-2022-10-4-34-39Voronin S.V., Kutsev S.I. Neonatal screening for hereditary diseases in Russia: yesterday, today, and tomorrow. Neonatologiya: Novosti. Mneniya. Obuchenie. 2022; 10(4): 34–9. https://doi.org/10.33029/2308-2402-2022-10-4-34-39 (in Russian)Lalani S.R. Current genetic testing tools in neonatal medicine. Pediatr. Neonatol. 2017; 58(2): 111–21. https://doi.org/10.1016/j.pedneo.2016.07.002Lalani S.R. Current genetic testing tools in neonatal medicine. Pediatr. Neonatol. 2017; 58(2): 111–21. https://doi.org/10.1016/j.pedneo.2016.07.002Verma R.P. Evaluation and risk assessment of congenital anomalies in neonates. Children (Basel). 2021; 8(10): 862. https://doi.org/10.3390/children8100862Verma R.P. Evaluation and risk assessment of congenital anomalies in neonates. Children (Basel). 2021; 8(10): 862. https://doi.org/10.3390/children8100862Lee H., Lim J., Shin J.E., Eun H.S., Park M.S., Park K.I., et al. Implementation of a targeted next-generation sequencing panel for constitutional newborn screening in high-risk neonates. Yonsei Med. J. 2019; 60(11): 1061–6. https://doi.org/10.3349/ymj.2019.60.11.1061Lee H., Lim J., Shin J.E., Eun H.S., Park M.S., Park K.I., et al. Implementation of a targeted next-generation sequencing panel for constitutional newborn screening in high-risk neonates. Yonsei Med. J. 2019; 60(11): 1061–6. https://doi.org/10.3349/ymj.2019.60.11.1061Померанцева Е.А., Докшукина А.А., Дегтярева А.В., Масленников Д.Н., Трофимов Д.Ю., Дегтярев Д.Н. Критерии оценки фенотипа новорожденного для формирования группы повышенного риска генетических заболеваний. Неонатология: Новости. Мнения. Обучение. 2022; 10(4): 47–53. https://doi.org/10.33029/2308-2402-2022-10-4-47-53Pomerantseva E.A., Dokshukina A.A., Degtyareva A.V., Maslennikov D.N., Trofimov D.Yu., Degtyarev D.N. Criteria of phenotype assessment of newborn for the group formation with increased risk of genetic diseases. Neonatologiya: Novosti. Mneniya. Obuchenie. 2022; 10(4): 47–53. https://doi.org/10.33029/2308-2402-2022-10-4-47-53 (in Russian)Burdick K.J., Cogan J.D., Rives L.C., Robertson A.K., Koziura M.E., Brokamp E., et al. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Am. J. Med. Genet. A. 2020; 182(6): 1400–6. https://doi.org/10.1002/ajmg.a.61558Burdick K.J., Cogan J.D., Rives L.C., Robertson A.K., Koziura M.E., Brokamp E., et al. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Am. J. Med. Genet. A. 2020; 182(6): 1400–6. https://doi.org/10.1002/ajmg.a.61558Linhart Y., Bashiri A., Maymon E., Shoham-Vardi I., Furman B., Vardi H., et al. Congenital anomalies are an independent risk factor for neonatal morbidity and perinatal mortality in preterm birth. Eur. J. Obstet. Gynecol. Reprod. Biol. 2000; 90(1): 43–9. https://doi.org/10.1016/s0301-2115(99)00196-7Linhart Y., Bashiri A., Maymon E., Shoham-Vardi I., Furman B., Vardi H., et al. Congenital anomalies are an independent risk factor for neonatal morbidity and perinatal mortality in preterm birth. Eur. J. Obstet. Gynecol. Reprod. Biol. 2000; 90(1): 43–9. https://doi.org/10.1016/s0301-2115(99)00196-7Baldacci S., Gorini F., Santoro M., Pierini A., Minichilli F., Bianchi F. Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence. Epidemiol. Prev. 2018; 42(3-4 Suppl. 1): 1–34. https://doi.org/10.19191/EP18.3-4.S1.P001.057Baldacci S., Gorini F., Santoro M., Pierini A., Minichilli F., Bianchi F. Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence. Epidemiol. Prev. 2018; 42(3-4 Suppl. 1): 1–34. https://doi.org/10.19191/EP18.3-4.S1.P001.057Nguengang Wakap S., Lambert D.M., Olry A., Rodwell C., Gueydan C., Lanneau V., et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 2020; 28(2): 165–73. https://doi.org/10.1038/s41431-019-0508-0Nguengang Wakap S., Lambert D.M., Olry A., Rodwell C., Gueydan C., Lanneau V., et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 2020; 28(2): 165–73. https://doi.org/10.1038/s41431-019-0508-0Bick D., Jones M., Taylor S.L., Taft R.J., Belmont J. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J. Med. Genet. 2019; 56(12): 783–91. https://doi.org/10.1136/jmedgenet-2019-106111Bick D., Jones M., Taylor S.L., Taft R.J., Belmont J. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J. Med. Genet. 2019; 56(12): 783–91. https://doi.org/10.1136/jmedgenet-2019-106111Elliott A.M. Genetic counseling and genome sequencing in pediatric rare disease. Cold Spring Harb. Perspect. Med. 2020; 10(3): a036632. https://doi.org/10.1101/cshperspect.a036632Elliott A.M. Genetic counseling and genome sequencing in pediatric rare disease. Cold Spring Harb. Perspect. Med. 2020; 10(3): a036632. https://doi.org/10.1101/cshperspect.a036632Sullivan J.A., Schoch K., Spillmann R.C., Shashi V. Exome/genome sequencing in undiagnosed syndromes. Annu. Rev. Med. 2023; 74: 489–502. https://doi.org/10.1146/annurev-med-042921-110721Sullivan J.A., Schoch K., Spillmann R.C., Shashi V. Exome/genome sequencing in undiagnosed syndromes. Annu. Rev. Med. 2023; 74: 489–502. https://doi.org/10.1146/annurev-med-042921-110721Шубина Е., Павлова Н.С., Донников А.Е., Померанцева Е.А., Трофимов Д.Ю. Использование экзомного секвенирования для проведения неонатального скрининга: возможности и ограничения. Неонатология: Новости. Мнения. Обучение. 2022; 10(4): 40–6. https://doi.org/10.33029/2308-2402-2022-10-4-40-46Shubina E., Pavlova N.S., Donnikov A.E., Pomerantseva E.A., Trofimov D.Yu. Perspectives and limitations of whole exome based neonatal screening. Neonatologiya: Novosti. Mneniya. Obuchenie. 2022; 10(4): 40–6. https://doi.org/10.33029/2308-2402-2022-10-4-40-46 (in Russian)Lee H., Huang A.Y., Wang L.K., Yoon A.J., Renteria G., Eskin A., et al. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet. Med. 2020; 22(3): 490–9. https://doi.org/10.1038/s41436-019-0672-1Lee H., Huang A.Y., Wang L.K., Yoon A.J., Renteria G., Eskin A., et al. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet. Med. 2020; 22(3): 490–9. https://doi.org/10.1038/s41436-019-0672-1Кравчук Н.В. Конвенция о правах ребенка ООН как инструмент защиты семейных прав ребенка в России. Государство и право. 2006; (4): 48–53.Kravchuk N.V. United Nations convention on the rights of a child as a instrument of family rights of a child in Russia. Gosudarstvo i pravo. 2006; (4): 48–53. (in Russian)Лазуренко С.Б. Современное состояние и перспективы развития психолого-педагогической помощи в педиатрии. Российский педиатрический журнал. 2020; 23(3): 148–53. https://doi.org/10.18821/1560-9561-2020-23-3-148-153Lazurenko S.B. Current status and development prospects of psychological and pedagogical assistance in pediatrics. Rossiyskiy pediatricheskiy zhurnal. 2020; 23(3): 148–53. https://doi.org/10.18821/1560-9561-2020-23-3-148-153 (in Russian)Сперанский Г.Н. Вопросы педиатрии и роль Центрального института ОММ в развитии физиологии и патологии раннего детского возраста. Педиатрия. Москва. 1957; (10): 11–20.Speranskiy G.N. Issues of pediatrics and the role of the Central Institute of OMM in the development of physiology and pathology of early childhood. Pediatriya. Moskva. 1957; (10): 11–20. (in Russian)Pena L.D.M., Jiang Y.H., Schoch K., Spillmann R.C., Walley N., Stong N., et al. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet. Med. 2018; 20(4): 464–9. https://doi.org/10.1038/gim.2017.128Pena L.D.M., Jiang Y.H., Schoch K., Spillmann R.C., Walley N., Stong N., et al. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet. Med. 2018; 20(4): 464–9. https://doi.org/10.1038/gim.2017.128

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