vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v20i2.2255vsp-2595Research ArticleНЕПРЕРЫВНОЕ ПРОФЕССИОНАЛЬНОЕ ОБРАЗОВАНИЕPROFESSIONAL DEVELOPMENTРоль педиатра в раннем определении риска развития, диагностике и медицинском сопровождении детей с расстройствами аутистического спектраRole of Pediatrician in Early Risk Evaluation, Diagnosis and Management of Children with Autism Spectrum Disordershttps://orcid.org/0000-0002-3167-082XУстиноваН. В.UstinovaNataliya V.

Устинова Наталия Вячеславовна - доктор медицинских наук, заведующая отделом социальной педиатрии и организации мультидисциплинарного сопровождения детей НИИ ПОЗД ЦКБ РАН.

119333, Москва, ул. Фотиевой, д. 10, стр. 1

Moscow

ust-doctor@mail.ruhttps://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.

Москва

Moscow

Научно-исследовательский институт педиатрии и охраны здоровья детей ЦКБ, РАН; Научно-практический центр психического здоровья детей и подростков им. Г.Е. СухаревойРоссияResearch Institute of Pediatrics and Children's Health in Central Clinical Hospital of the Russian Academy of Sciences; Scientific and Practical Center for Mental Health of Children and Adolescents n.a. G.E. SukharevaRussian FederationНаучно-исследовательский институт педиатрии и охраны здоровья детей ЦКБ, РАН; Российский национальный исследовательский медицинский университет им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children's Health in Central Clinical Hospital of the Russian Academy of Sciences; Pirogov Russian National Research Medical UniversityRussian Federation202116052021202116121Copyright © Устинова Н.В., Намазова-Баранова Л.С., 20212021Устинова Н.В., Намазова-Баранова Л.С.Ustinova N.V., Namazova-Baranova L.S.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/2595

В статье обсуждаются современные представления об аутизме: подходы к классификации, распространенность, этиология и патогенез, клинические проявления и диагностика, сопутствующие медицинские состояния, подходы к раннему выявлению и медицинскому сопровождению детей с расстройствами аутистического спектра. Основной акцент сделан на информации, необходимой педиатрам в практической деятельности для оказания эффективной медицинской помощи детям с нарушениями психического развития.

The article discusses recent ideas about autism: classification approaches, incidence, etiology and pathogenesis, clinical manifestations and diagnosis, comorbid medical conditions, early detection approaches and medical care for children with autism spectrum disorders. The focus is on the information needed for pediatricians in their practice to provide effective medical care for children with neurodevelopmental disorders.

аутизмрасстройства аутистического спектраскринингмультидисциплинарная помощьautismautism spectrum disordersscreeningmultidisciplinary careНе указанNot specifiedReferencesМеждународная классификация болезней десятого пересмотра МКБ-10 (принята 43-й Всемирной Ассамблеей Здравоохранения). Доступно по: http://base.garant.ru/4100000/#ixzz6ksMDaF00. Ссылка активна на 06.04.2021.The 10th revision of the International Classification of Diseases ICD-10 (endorsed by the Forty-third World Health Assembly). (In Russ). Доступно по: http://base.garant.ru/4100000/#ixzz6ksMDaF00. Ссылка активна на 06.04.2021.Международная классификация болезней 11 пересмотра МКБ-11. Доступно по: https://icd.who.int/ru. Ссылка активна на 06.04.2021.The 11th revision of the International Classification of Diseases ICD-11. (In Russ). Доступно по: https://icd.who.int/ru. Ссылка активна на 06.04.2021.Lord C, Jones R. Re-thinking the classification of autism spectrum disorders. J Child Psychol Psychiatry. 2012;53(5):490-509. doi: 10.1111/j.1469-7610.2012.02547.xLord C, Jones R. Re-thinking the classification of autism spectrum disorders. J Child Psychol Psychiatry. 2012;53(5):490-509. doi: 10.1111/j.1469-7610.2012.02547.xHyman SL, Levy SE, Myers SM. Clinical report. Guidance for the clinician in rendering pediatric care. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020;145(1):e20193447.Hyman SL, Levy SE, Myers SM. Clinical report. Guidance for the clinician in rendering pediatric care. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020;145(1):e20193447.Buja A, Volfovsky N, Krieger AM, et al. Damaging de novo mutations diminish motor skills in children on the autism spectrum. Proc Natl Acad Sci. 2018;115(8):1859-1866. doi: 10.1073/pnas.1715427115Buja A, Volfovsky N, Krieger AM, et al. Damaging de novo mutations diminish motor skills in children on the autism spectrum. Proc Natl Acad Sci. 2018;115(8):1859-1866. doi: 10.1073/pnas.1715427115Malaga I, Blanco-Lago R, Hedrera-Fernandez A, et al. Prevalence of Autism Spectrum Disorders in USA, Europe and Spain: Coincidences and Discrepancies. Medicina. 2019;79(Suppl 1):4-9. doi: 10.1073/pnas.1715427115Malaga I, Blanco-Lago R, Hedrera-Fernandez A, et al. Prevalence of Autism Spectrum Disorders in USA, Europe and Spain: Coincidences and Discrepancies. Medicina. 2019;79(Suppl 1):4-9. doi: 10.1073/pnas.1715427115ВОЗ. Расстройства аутистического спектра. [WHO. Autism spectrum disorders. (In Russ).] Доступно по: https://www.who.int/ru/news-room/fact-sheets/detail/autism-spectrum-disorders. Ссылка активна на 06.04.2021.ВОЗ. Расстройства аутистического спектра. [WHO. Autism spectrum disorders. (In Russ).] Доступно по: https://www.who.int/ru/news-room/fact-sheets/detail/autism-spectrum-disorders. Ссылка активна на 06.04.2021.Fombonne E. The rising prevalence of autism. J Child Psychol Psychiatry. 2018;59(7):717-720. doi: 10.1111/jcpp.12941Fombonne E. The rising prevalence of autism. J Child Psychol Psychiatry. 2018;59(7):717-720. doi: 10.1111/jcpp.12941Nassar N, Dixon G, Bourke J, et al. Autism spectrum disorders in young children: effect of changes in diagnostic practices. Int J Epidemiol. 2009;38(5):1245-1254. doi: 10.1093/ije/dyp260Nassar N, Dixon G, Bourke J, et al. Autism spectrum disorders in young children: effect of changes in diagnostic practices. Int J Epidemiol. 2009;38(5):1245-1254. doi: 10.1093/ije/dyp260Lyall K, Croen L, Daniels J, et al. The Changing Epidemiology of Autism Spectrum Disorders. Annu Rev Public Health. 2017;38: 81-102. doi: 10.1146/annurev-publhealth-031816-044318Lyall K, Croen L, Daniels J, et al. The Changing Epidemiology of Autism Spectrum Disorders. Annu Rev Public Health. 2017;38: 81-102. doi: 10.1146/annurev-publhealth-031816-044318Baxter AJ, Brugha TS, Erskine HE, et al. The epidemiology and global burden of autism spectrum disorders. Psychol Med. 2015; 45(3):601-613. doi: 10.1017/S003329171400172XBaxter AJ, Brugha TS, Erskine HE, et al. The epidemiology and global burden of autism spectrum disorders. Psychol Med. 2015; 45(3):601-613. doi: 10.1017/S003329171400172XWeiss LA, Arking DE, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature. 2009;461:802-808. doi: 10.1038/nature08490Weiss LA, Arking DE, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature. 2009;461:802-808. doi: 10.1038/nature08490Rosti RO, Sadek AA, Vaux KK, Gleeson JG. The genetic landscape of autism spectrum disorders. Dev Med Child Neurol. 2014; 56(1):12-18. doi: 10.1111/dmcn.12278Rosti RO, Sadek AA, Vaux KK, Gleeson JG. The genetic landscape of autism spectrum disorders. Dev Med Child Neurol. 2014; 56(1):12-18. doi: 10.1111/dmcn.12278Carter MT, Scherer SW. Autism spectrum disorder in the genetics clinic: a review. Clin Genet. 2013;83(5):399-407. doi: 10.1111/cge.12101Carter MT, Scherer SW. Autism spectrum disorder in the genetics clinic: a review. Clin Genet. 2013;83(5):399-407. doi: 10.1111/cge.12101Moss J, Richards C, Nelson L, Oliver C. Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome. Autism. 2013;17(4): 390-404. doi: 10.1177/1362361312442790Moss J, Richards C, Nelson L, Oliver C. Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome. Autism. 2013;17(4): 390-404. doi: 10.1177/1362361312442790Slawinski BL, Talge N, Ingersoll B, et al. Maternal CMV sero-positivity and autism symptoms in children. Am J Reprod Immunol. 2018;79(5):12840. doi: 10.1111/aji.12840Slawinski BL, Talge N, Ingersoll B, et al. Maternal CMV sero-positivity and autism symptoms in children. Am J Reprod Immunol. 2018;79(5):12840. doi: 10.1111/aji.12840Huguet G, Ey E, Bourgeron T. The Genetic Landscapes of Autism Spectrum Disorders. Annu Rev Genomics Hum Genet. 2013;14: 191-213. doi: 10.1146/annurev-genom-091212-153431Huguet G, Ey E, Bourgeron T. The Genetic Landscapes of Autism Spectrum Disorders. Annu Rev Genomics Hum Genet. 2013;14: 191-213. doi: 10.1146/annurev-genom-091212-153431Glinton KE, Elsea SH. Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions. Front Psychiatry. 2019;10:647. doi: 10.3389/fpsyt.2019.00647Glinton KE, Elsea SH. Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions. Front Psychiatry. 2019;10:647. doi: 10.3389/fpsyt.2019.00647Szatmari P, Chawarska K, Dawson G, et al. Prospective Longitudinal Studies of Infant Siblings of Children With Autism: Lessons Learned and Future Directions. J Am Acad Child Adolesc Psychiatry. 2016;55(3):179-187. doi: 10.1016/j.jaac.2015.12.014Szatmari P, Chawarska K, Dawson G, et al. Prospective Longitudinal Studies of Infant Siblings of Children With Autism: Lessons Learned and Future Directions. J Am Acad Child Adolesc Psychiatry. 2016;55(3):179-187. doi: 10.1016/j.jaac.2015.12.014Tammimies K. Genetic mechanisms of regression in autism spectrum disorder. Neurosci Biobehav Rev. 2019;102:208-220. doi: 10.1016/j.neubiorev.2019.04.022Tammimies K. Genetic mechanisms of regression in autism spectrum disorder. Neurosci Biobehav Rev. 2019;102:208-220. doi: 10.1016/j.neubiorev.2019.04.022Vivanti G, Dissanayake C. Outcome for children receiving the Early Start Denver Model before and after 48 months. J Autism Dev Disord. 2016;46(7):2441-2449. doi: 10.1007/s10803-016-2777-6Vivanti G, Dissanayake C. Outcome for children receiving the Early Start Denver Model before and after 48 months. J Autism Dev Disord. 2016;46(7):2441-2449. doi: 10.1007/s10803-016-2777-6Landa RJ. Efficacy of early interventions for infants and young children with, and at risk for, autism spectrum disorders. Int Rev Psychiatry. 2018;30(1):25-39. doi: 10.1080/09540261.2018.1432574Landa RJ. Efficacy of early interventions for infants and young children with, and at risk for, autism spectrum disorders. Int Rev Psychiatry. 2018;30(1):25-39. doi: 10.1080/09540261.2018.1432574Meeting report: autism spectrum disorders and other developmental disorders: from raising awareness to building capacity. Geneva, Switzerland: World Health Organization; 2013. 37 p.Meeting report: autism spectrum disorders and other developmental disorders: from raising awareness to building capacity. Geneva, Switzerland: World Health Organization; 2013. 37 p.Robins D, Casagrande K, Barton M, et al. Validation of the modified checklist for autism in toddlers, revised with followup (M-CHAT-R/F). Pediatrics. 2014;133(1):37-45. doi: 10.1542/peds.2013-1813Robins D, Casagrande K, Barton M, et al. Validation of the modified checklist for autism in toddlers, revised with followup (M-CHAT-R/F). Pediatrics. 2014;133(1):37-45. doi: 10.1542/peds.2013-1813Baduel S, Guillon Q, Afzali MH, et al. The French Version of the Modified-Checklist for Autism in Toddlers (M-CHAT): A Validation Study on a French Sample of 24 Month-Old Children. J Autism Dev Disord. 2017;47(2):297-304. doi: 10.1007/s10803-016-2950-yBaduel S, Guillon Q, Afzali MH, et al. The French Version of the Modified-Checklist for Autism in Toddlers (M-CHAT): A Validation Study on a French Sample of 24 Month-Old Children. J Autism Dev Disord. 2017;47(2):297-304. doi: 10.1007/s10803-016-2950-ySheldrick C, Perrin E. Evidence-based milestones for surveillance of cognitive, language, and motor development. Acad Pediatr. 2013;13(6):577-586. doi: 10.1016/j.acap.2013.07.001Sheldrick C, Perrin E. Evidence-based milestones for surveillance of cognitive, language, and motor development. Acad Pediatr. 2013;13(6):577-586. doi: 10.1016/j.acap.2013.07.001Баранов А.А., Намазова-Баранова Л.С., Терлецкая РН. и др. Оценка качества проведения профилактических медицинских осмотров несовершеннолетних в Российской Федерации // Проблемы социальной гигиены, здравоохранения и истории медицины. — 2017. — Т. 25. — № 1. — С. 23-29.Baranov AA, Namazova-Baranova LS, Terletskaia RN, et al. The evaluation of quality of implementation of preventive medical examinations of underage persons in the Russian Federation. Problems of Social Hygiene, Public Health and History of Medicine. 2017;25(1):23-29. (In Russ).Приказ Министерства здравоохранения РФ от 10 августа 2017 г. N 514н «О Порядке проведения профилактических медицинских осмотров несовершеннолетних» (с изменениями и дополнениями). Доступно по: http://base.garant.ru/71748018/#ixzz6knZL7Oyi. Ссылка активна на 06.04.2021.Order of the Ministry of Health of Russia dated August 10, 2017. N 514н “O Poryadke provedeniya profilakticheskikh meditsinskikh osmotrov nesovershennoletnikh" (as amended and supplemented). (In Russ). Доступно по: http://base.garant.ru/71748018/#ixzz6knZL7Oyi. Ссылка активна на 06.04.2021.Приказ Министерства здравоохранения РФ от 13 июня 2019 г. N 396н «О внесении изменений в Порядок проведения профилактических медицинских осмотров несовершеннолетних, утвержденный приказом Министерства здравоохранения Российской Федерации от 10 августа 2017 г. N 514н». Доступно по: http://base.garant.ru/72817530/#ixzz6ktFOntiz. Ссылка активна на 06.04.2021.Order of the Ministry of Health of Russia dated June 13, 2019 N 396н “O vnesenii izmenenii v Poryadok provedeniya profilakticheskikh meditsinskikh osmotrov nesovershennoletnikh, utverzhdennyi prikazom Ministerstva zdravookhraneniya Rossiiskoi Federatsii ot 10 avgusta 2017 N 514n". (In Russ). Доступно по: http://base.garant.ru/72817530/#ixzz6ktFOntiz. Ссылка активна на 06.04.2021.Dunn K, Rydzewska Е, Fleminget М, et al. Prevalence of mental health conditions, sensory impairments and physical disabil ity in people with co-occurring intellectual disabilities and autism compared with other people: a cross-sectional total population study in Scotland. BMJ Open. 2020;10(4):e035280. doi: 10.1136/bmjopen-2019-035280Dunn K, Rydzewska Е, Fleminget М, et al. Prevalence of mental health conditions, sensory impairments and physical disabil ity in people with co-occurring intellectual disabilities and autism compared with other people: a cross-sectional total population study in Scotland. BMJ Open. 2020;10(4):e035280. doi: 10.1136/bmjopen-2019-035280Steyaert JG, De La Marche W. What's new in autism? Eur J Pediatr. 2008;167(10):1091-1101. doi: 10.1007/s00431-008-0764-4Steyaert JG, De La Marche W. What's new in autism? Eur J Pediatr. 2008;167(10):1091-1101. doi: 10.1007/s00431-008-0764-4Scalli LE. Accessibility to Health Care Services for Children with Autism Spectrum Disorders. Walden University; 2018. 105 p.Scalli LE. Accessibility to Health Care Services for Children with Autism Spectrum Disorders. Walden University; 2018. 105 p.McElhanon BO, McCracken С, Karpen S, Sharp WG. Gastrointestinal symptoms in autism spectrum disorder: a meta-analysis. Pediatrics. 2014;133(5):872-883. doi: 10.1542/peds.2013-3995McElhanon BO, McCracken С, Karpen S, Sharp WG. Gastrointestinal symptoms in autism spectrum disorder: a meta-analysis. Pediatrics. 2014;133(5):872-883. doi: 10.1542/peds.2013-3995Bauman ML. Medical comorbidities in autism: challenges to diagnosis and treatment. Neurotherapeutics. 2010;7(3):320-327. doi: 10.1016/j.nurt.2010.06.001Bauman ML. Medical comorbidities in autism: challenges to diagnosis and treatment. Neurotherapeutics. 2010;7(3):320-327. doi: 10.1016/j.nurt.2010.06.001Tonacci A, Billeci L, Ruta L, et al. A systematic review of the association between allergic asthma and autism. Minerva Pediatr. 2017;69(6):538-550. doi: 10.23736/S0026-4946.16.04623-5Tonacci A, Billeci L, Ruta L, et al. A systematic review of the association between allergic asthma and autism. Minerva Pediatr. 2017;69(6):538-550. doi: 10.23736/S0026-4946.16.04623-5Xu G, Linda GS, Jing J, et al. Association of Food Allergy and Other Allergic Conditions With Autism Spectrum Disorder in Children. JAMA Netw Open. 2018;1(2):е180279. doi: 10.1001/jamanetworkopen.2018.0279Xu G, Linda GS, Jing J, et al. Association of Food Allergy and Other Allergic Conditions With Autism Spectrum Disorder in Children. JAMA Netw Open. 2018;1(2):е180279. doi: 10.1001/jamanetworkopen.2018.0279Spann MN, Timonen-Soivio L, Suominen A, et al. Proband and familial autoimmune diseases are associated with proband diagnosis of autism spectrum disorders. J Am Acad Child Adolesc Psychiatry. 2019;58(5):496-505. doi: 10.1016/j.jaac.2018.09.444Spann MN, Timonen-Soivio L, Suominen A, et al. Proband and familial autoimmune diseases are associated with proband diagnosis of autism spectrum disorders. J Am Acad Child Adolesc Psychiatry. 2019;58(5):496-505. doi: 10.1016/j.jaac.2018.09.444Obaydi H, Puri BK. Prevalence of premenstrual syndrome in autism: a prospective observer-rated study. J Int Med Research. 2008;36(2):268-272. doi: 10.1177/147323000803600208Obaydi H, Puri BK. Prevalence of premenstrual syndrome in autism: a prospective observer-rated study. J Int Med Research. 2008;36(2):268-272. doi: 10.1177/147323000803600208Tajima-Pozo К, Zambrano-Enriquez D, De Anta L, et al. Otitis and autism spectrum disorders. BMJ Case Rep. 2010;2010: bcr10.2009.2351. doi: 10.1136/bcr.10.2009.2351Tajima-Pozo К, Zambrano-Enriquez D, De Anta L, et al. Otitis and autism spectrum disorders. BMJ Case Rep. 2010;2010: bcr10.2009.2351. doi: 10.1136/bcr.10.2009.2351Guan J, Li G. Characteristics of unintentional drowning deaths in children with autism spectrum disorder. Inj Epidemiol. 2017; 4(1):32-36. doi: 10.1186/s40621-017-0129-4Guan J, Li G. Characteristics of unintentional drowning deaths in children with autism spectrum disorder. Inj Epidemiol. 2017; 4(1):32-36. doi: 10.1186/s40621-017-0129-4McDonnell CG, Boan AD, Bradley CC, et al. Child maltreatment in autism spectrum disorder and intellectual disability: results from a population-based sample. J Child Psychol Psychiatry. 2019;60(5):576-584. doi: 10.1111/jcpp.12993McDonnell CG, Boan AD, Bradley CC, et al. Child maltreatment in autism spectrum disorder and intellectual disability: results from a population-based sample. J Child Psychol Psychiatry. 2019;60(5):576-584. doi: 10.1111/jcpp.12993

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