akusherstvoObstetrics, Gynecology and ReproductionАкушерство, Гинекология и Репродукция2313-73472500-3194IRBIS LLC10.17749/2313-7347/ob.gyn.rep.2024.526akusherstvo-2290Research ArticleREVIEW ARTICLESНАУЧНЫЕ ОБЗОРЫNew perspectives on autism: two equations to describe a complex disorder and envisage new treatmentsНовые представления об аутизме: два уравнения для описания сложного расстройства и разработки новых методов леченияСуарезБ.SuareB.

Суарез Бруно

104 Бульвар Раймон Пуанкаре, Гарш 92380

Bruno Suarez, MD.

104 Boulevard Raymond Poincare, 92380 Garches

suarez.bruno@free.frЖенМ.-А.JeuneM.-A.

Жен Мари-Агнес

12 ул. Эрнест Ренан, Севр 92310

Marie-Agnes Jeune, MD.

12 rue Ernest Renan, 92310 Sevres

Отделение радиологии, Больница де Гарш, Университет Париж-СаклеФранцияRadiology Department, Hopital de Garches, Universite Paris-SaclayFranceLes Papillons Blancs de la Colline, Центр исследований и передового опыта в области аутизма, Больница de jour Les LierresФранцияLes Papillons Blancs de la Colline, Centre de Recherche et d'Excellence sur l'autisme, Hopital de jour Les LierresFrance202410012025186882890Copyright © Suare B., Jeune M., 20252025Суарез Б., Жен М.Suare B., Jeune M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.gynecology.su/jour/article/view/2290

Autism spectrum disorder (ASD) is a neurodevelopmental condition that can be reliably diagnosed in children by age 18–24 months. Prospective longitudinal studies of infants aged 1 year and younger who are later diagnosed with autism are elucidating the early developmental course of autism and identifying ways of predicting autism before diagnosis is possible. Studies that use magnetic resonance imaging and electroencephalography, have identified differences in brain development in infants later diagnosed with autism compared with infants without autism. Retrospective studies of infants younger than 1 year who received a later diagnosis of autism have also showed an increased prevalence of health conditions, such as sleep disorders, gastrointestinal disorders, and vision problems. We propose two equations to describe this complex disorder: the first indicates the factors at the origin of the disease, the second synthesizes the different factors leading to a more or less severe disease. Although research findings offer insight on promising screening approaches for predicting autism in infants, individual-level predictions remain a future goal. Multiple scientific challenges and ethical questions remain to be addressed to translate research on early brain-based and behavioural predictors of autism into feasible and reliable screening tools for clinical practice.

Расстройство аутистического спектра (РАС) – это состояние неврологического развития, которое представляется реальным достоверно диагностировать у детей в возрасте от 18 до 24 месяцев. Проспективные продольные исследования младенцев в возрасте 1 года и младше, у которых позже диагностируют аутизм, указывают на развитие аутизма в раннем возрасте и предлагают способы прогнозирования аутизма до возможности проведения диагностики. Исследования с применением магнитно-резонансной томографии и электроэнцефалографии выявили различия в развитии мозга у младенцев, у которых позже диагностируют аутизм, по сравнению с младенцами без аутизма. Ретроспективные исследования младенцев младше 1 года, у которых позже диагностировали аутизм, также показали повышенную распространенность нарушений сна, желудочно-кишечных расстройств и проблем со зрением. Мы предлагаем два уравнения для описания этого сложного расстройства: первое указывает на факторы, лежащие в основе заболевания, второе предсказывает различные факторы, влияющие на степень тяжести заболевания. Хотя результаты исследований дают представление о перспективных подходах к скринингу для прогнозирования аутизма у младенцев, прогнозы на индивидуальном уровне остаются целью для будущего. Необходимо решить множество научных проблем и этических вопросов, чтобы исследования ранних мозговых и поведенческих предикторов аутизма стали реализуемыми и надежными инструментами скрининга для клинической практики.

расстройство аутистического спектраРАСранняя диагностиканейропластичностьautism spectrum disorderASDearly diagnosisneuroplasticityReferencesDawson G., Rieder A.D., Johnson M.H. Prediction of autism in infants: Progress and challenges. Lancet Neurol. 2023;22(3):244-54. https://doi.org/10.1016/S1474-4422(22)00407-0.Dawson G., Rieder A.D., Johnson M.H. Prediction of autism in infants: Progress and challenges. Lancet Neurol. 2023;22(3):244-54. https://doi.org/10.1016/S1474-4422(22)00407-0.Bourgeron T. Des genes, des synapses, des autismes. Paris: Odile Jacob, 2023. 320 p.Bourgeron T. Des genes, des synapses, des autismes. Paris: Odile Jacob, 2023. 320 p.Warrier V., Zhang X., Reed P. et al. Genetic correlates of phenotypic heterogeneity in autism. Nat Genet. 2022;54(9):1293-304. https://doi.org/10.1038/s41588-022-01072-5.Warrier V., Zhang X., Reed P. et al. Genetic correlates of phenotypic heterogeneity in autism. Nat Genet. 2022;54(9):1293-304. https://doi.org/10.1038/s41588-022-01072-5.Girault J., Donovan K., Hawsk Z. et al. Infant visual brain development and inherited genetic liability in autism. Am J Psychiatry. 2022;179(8):573-85. https://doi.org/10.1176/appi.ajp.21101002.Girault J., Donovan K., Hawsk Z. et al. Infant visual brain development and inherited genetic liability in autism. Am J Psychiatry. 2022;179(8):573-85. https://doi.org/10.1176/appi.ajp.21101002.Magee J.C., Grienberger C. Synaptic plasticity forms and functions. Annu Rev Neurosci. 2020;43:95-117. https://doi.org/10.1146/annurev-neuro-090919-022842.Magee J.C., Grienberger C. Synaptic plasticity forms and functions. Annu Rev Neurosci. 2020;43:95-117. https://doi.org/10.1146/annurev-neuro-090919-022842.Tang G., Gudsnuk K., Kuo S.-H. et al. Loss of mTOR-dependent 2014;83(5):1131-43. https://doi.org/10.1016/j.neuron.2014.07.040.Tang G., Gudsnuk K., Kuo S.-H. et al. Loss of mTOR-dependent 2014;83(5):1131-43. https://doi.org/10.1016/j.neuron.2014.07.040.D'Albis M.-A., Guevara P., Guevara M. et al. Local structural connectivity is associated with social cognition in autism spectrum disorder. Brain. 2018;141(12):3472-81. https://doi.org/10.1093/brain/awy275.D'Albis M.-A., Guevara P., Guevara M. et al. Local structural connectivity is associated with social cognition in autism spectrum disorder. Brain. 2018;141(12):3472-81. https://doi.org/10.1093/brain/awy275.Caporale N., Leemans M., Birgersson L. et al. From cohorts to molecules: Adverse impacts of endocrine disrupting mixtures. Science. 2022;375(6582):eabe8244. https://doi.org/10.1126/science.abe8244.Caporale N., Leemans M., Birgersson L. et al. From cohorts to molecules: Adverse impacts of endocrine disrupting mixtures. Science. 2022;375(6582):eabe8244. https://doi.org/10.1126/science.abe8244.Bongaerts E., Lecante LL., Bove H. et al. Maternal exposure to ambient black carbon particles and their presence in maternal and fetal circulation and organs: an analysis of two independent population-based observational studies. Lancet Planet Health. 2022;6(10):e804-e811. https://doi.org/10.1016/S2542-5196(22)00200-5.Bongaerts E., Lecante LL., Bove H. et al. Maternal exposure to ambient black carbon particles and their presence in maternal and fetal circulation and organs: an analysis of two independent population-based observational studies. Lancet Planet Health. 2022;6(10):e804-e811. https://doi.org/10.1016/S2542-5196(22)00200-5.Demeneix B. Cocktail toxique: Comment les perturbateurs endocriniens empoisonnent notre cerveau. Paris, Odile Jacob, 2017. 289 p.Demeneix B. Cocktail toxique: Comment les perturbateurs endocriniens empoisonnent notre cerveau. Paris, Odile Jacob, 2017. 289 p.Ahrens A.P., Hyotylainen T., Petrone J.R. et al. Infant microbes and metabolites point to childhood neurodevelopemental disorders. Cell. 2024;187(8):1853-1873.e15. https://doi.Org/10.1016/j.cell.2024.02.035.Ahrens A.P., Hyotylainen T., Petrone J.R. et al. Infant microbes and metabolites point to childhood neurodevelopemental disorders. Cell. 2024;187(8):1853-1873.e15. https://doi.Org/10.1016/j.cell.2024.02.035.Kang D.-W., Adams J.B., Coleman D.M. et al. Long-term benefit of Microbiota Transfer Therapy on autism symptoms and gut microbiota. Sci Rep. 2019;9(1):5821. https://doi.org/10.1038/s41598-019-42183-0.Kang D.-W., Adams J.B., Coleman D.M. et al. Long-term benefit of Microbiota Transfer Therapy on autism symptoms and gut microbiota. Sci Rep. 2019;9(1):5821. https://doi.org/10.1038/s41598-019-42183-0.Elandaloussi Y., Floris D.L., Coupe P et al. Understanding the relationshipbetweencerebellar structure and social habilities. MolAutism. 2023;14(1):18. https://doi.org/10.1186/s13229-023-00551-8.Elandaloussi Y., Floris D.L., Coupe P et al. Understanding the relationshipbetweencerebellar structure and social habilities. MolAutism. 2023;14(1):18. https://doi.org/10.1186/s13229-023-00551-8.Dumas G., Nadel J., Soussignan R. et al. Inter-brain synchronization during social interaction. Plos One. 2010;5(8):e12166. https://doi.org/10.1371/journal.pone.0012166.Dumas G., Nadel J., Soussignan R. et al. Inter-brain synchronization during social interaction. Plos One. 2010;5(8):e12166. https://doi.org/10.1371/journal.pone.0012166.Endevelt-Shapira Y., Djalovski A., Dumas G., Feldman R. Maternal chemosignals enhance infant-adult-brain-to-brain synchrony. Sci Adv. 2021;7(50):eabg6867. https://doi.org/10.1126/sciadv.abg6867.Endevelt-Shapira Y., Djalovski A., Dumas G., Feldman R. Maternal chemosignals enhance infant-adult-brain-to-brain synchrony. Sci Adv. 2021;7(50):eabg6867. https://doi.org/10.1126/sciadv.abg6867.Eggebrecht A., Elison J.T., Feczko E. et al. Joint attention and brain functional connectivity in infants and toddlers. Cereb Cortex. 2017;27(3):1709—20. https://doi.org/10.1093/cercor/bhw40.Eggebrecht A., Elison J.T., Feczko E. et al. Joint attention and brain functional connectivity in infants and toddlers. Cereb Cortex. 2017;27(3):1709—20. https://doi.org/10.1093/cercor/bhw40.Santamaria L., Noreika V., Georgieva S. et al. Emotional valence modulates the topology of the parent-infant inter-brain network. Neuroimage. 2020;207:116341. https://doi.org/10.1016/j.neuroimage.2019.116341.Santamaria L., Noreika V., Georgieva S. et al. Emotional valence modulates the topology of the parent-infant inter-brain network. Neuroimage. 2020;207:116341. https://doi.org/10.1016/j.neuroimage.2019.116341.Piazza P., Hazenfratz L., Hasson U., Lew-Williams C.L. Infant and adult brains are coupled to the dynamics of natural communication. Psychol Sci. 2020;31(1):6-17. https://doi.org/10.1177/0956797619878698.Piazza P., Hazenfratz L., Hasson U., Lew-Williams C.L. Infant and adult brains are coupled to the dynamics of natural communication. Psychol Sci. 2020;31(1):6-17. https://doi.org/10.1177/0956797619878698.Wang Q., Han Z., Hu X. et al. Autism symptoms modulate interpersonal neural synchronization in children with autism spectrum disorder in cooperative interactions. Brain Topography. 2020;33:112-22.Wang Q., Han Z., Hu X. et al. Autism symptoms modulate interpersonal neural synchronization in children with autism spectrum disorder in cooperative interactions. Brain Topography. 2020;33:112-22.Regev O., Hadar A., Meiri G. et al. Association between ultrasonography fetal anomalies and autism spectrum disorder. Brain. 2022;145(12):4519- 30. https://doi.org/10.1093/brain/awac008.Regev O., Hadar A., Meiri G. et al. Association between ultrasonography fetal anomalies and autism spectrum disorder. Brain. 2022;145(12):4519- 30. https://doi.org/10.1093/brain/awac008.Turk E., van Den Heuvel M., Benders M.J. et al. Functional connectome of the fetal brain. J Neuroscie. 2019;39(49):9716-24. https://doi.org/10.1523/JNEUROSCI.2891-18.2019.Turk E., van Den Heuvel M., Benders M.J. et al. Functional connectome of the fetal brain. J Neuroscie. 2019;39(49):9716-24. https://doi.org/10.1523/JNEUROSCI.2891-18.2019.Bosl W.J., Tager-Flusberg H., Nelson C.A. EEG analytics for early detection of autism spectrum disorder: A data-driven approach. Sci Rep. 2018;8(1):6828. https://doi.org/10.1038/s41598-018-24318-x.Bosl W.J., Tager-Flusberg H., Nelson C.A. EEG analytics for early detection of autism spectrum disorder: A data-driven approach. Sci Rep. 2018;8(1):6828. https://doi.org/10.1038/s41598-018-24318-x.Emerson R.W., Adams C., Nishino T. et al. Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age. Sci Translat Med. 2017;9(393):eaag2882. https://doi.org/10.1126/scitranslmed.aag2882.Emerson R.W., Adams C., Nishino T. et al. Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age. Sci Translat Med. 2017;9(393):eaag2882. https://doi.org/10.1126/scitranslmed.aag2882.Gao W., Zhu H., Giovanello K.S. et al. Evidence on the emergence of the brain's default network from 2-week-old to 2-year-old healthy pediatric subjects. Proc Natl Acad Sci U S A. 2009;106(16):6790-5. https://doi.org/10.1073/pnas.0811221106.Gao W., Zhu H., Giovanello K.S. et al. Evidence on the emergence of the brain's default network from 2-week-old to 2-year-old healthy pediatric subjects. Proc Natl Acad Sci U S A. 2009;106(16):6790-5. https://doi.org/10.1073/pnas.0811221106.Shen M.D., Kim S.H., McKinstry R.C. et al. Increased extra-axial cerebrospinal fluid in high-risk infants who later develop autism. Biol Psychiatry. 2017;82(3):186-93. https://doi.org/10.1016/j.biopsych.2017.02.1095.Shen M.D., Kim S.H., McKinstry R.C. et al. Increased extra-axial cerebrospinal fluid in high-risk infants who later develop autism. Biol Psychiatry. 2017;82(3):186-93. https://doi.org/10.1016/j.biopsych.2017.02.1095.Leroy F., Mangin J.-F., Rousseau F. et al. Atlas-free surface reconstruction of the cortical grey-white matter interface in infants. PLoS One. 2011;6(11):e27128. https://doi.org/10.1371/journal.pone.0027128.Leroy F., Mangin J.-F., Rousseau F. et al. Atlas-free surface reconstruction of the cortical grey-white matter interface in infants. PLoS One. 2011;6(11):e27128. https://doi.org/10.1371/journal.pone.0027128.Guillon L., Chavas J., Benezit A. et al. Identification of rare cortical folding patterns using unsupervised deep learning. Imaging Neuroscience. 2024;2:1-27. https://doi.org/1./1162/imag_a_00084.Guillon L., Chavas J., Benezit A. et al. Identification of rare cortical folding patterns using unsupervised deep learning. Imaging Neuroscience. 2024;2:1-27. https://doi.org/1./1162/imag_a_00084.Mihailov A., Pron A., Lefevre J. et al. Normative models combining fetal and postnatal MRI data to characterize neurodevelopemental trajectories during transition from in- to ex-utero. bioRxiv. March 11, 2024. https://doi.org/10.1101/2024.03.07.583908.Mihailov A., Pron A., Lefevre J. et al. Normative models combining fetal and postnatal MRI data to characterize neurodevelopemental trajectories during transition from in- to ex-utero. bioRxiv. March 11, 2024. https://doi.org/10.1101/2024.03.07.583908.Brun L., Auzias G., Viellard M. et al. Localized misfolding within Broca's area as a distinctive feature of autistic disorder. Biol Psychiatry Cogn Neurosci Neuroimaging. 2016;1(2):160-8. https://doi.org/10.1016/j.bpsc.2015.11.003.Brun L., Auzias G., Viellard M. et al. Localized misfolding within Broca's area as a distinctive feature of autistic disorder. Biol Psychiatry Cogn Neurosci Neuroimaging. 2016;1(2):160-8. https://doi.org/10.1016/j.bpsc.2015.11.003.Nystrom P., Gliga T., Jobs E.N. et al. Enhanced pupillary reflex in in fancy is associated with autism diagnosis in toddlerhood. Nat Commun. 2018;9(1):1678. https://doi.org/10.1038/s41467-018-03985-4.Nystrom P., Gliga T., Jobs E.N. et al. Enhanced pupillary reflex in in fancy is associated with autism diagnosis in toddlerhood. Nat Commun. 2018;9(1):1678. https://doi.org/10.1038/s41467-018-03985-4.Guillon Q., Afzali M.H., Roge B. et al. The importance of networking in autisl gaze analysis. PLoS One. 2015;10(10):e0141191. https://doi.org/10.1371/journal.pone.0141191.Guillon Q., Afzali M.H., Roge B. et al. The importance of networking in autisl gaze analysis. PLoS One. 2015;10(10):e0141191. https://doi.org/10.1371/journal.pone.0141191.Katsantonis I., McLellan R. The role of parent-child interactions in the association between mental health and prosocial behavior: Evidence from early childhood to late adolescence. Int J Behav Dev. 2024;48(1):59-70. https://doi.org/10.1177/01650254231202444.Katsantonis I., McLellan R. The role of parent-child interactions in the association between mental health and prosocial behavior: Evidence from early childhood to late adolescence. Int J Behav Dev. 2024;48(1):59-70. https://doi.org/10.1177/01650254231202444.Collet M., Gagnaire B., Rousseau C. et al. L'exposition aux ecrans chez les jeunes enfants est-elle a l'origine de l'apparition de troubles primaires du langage ? Une etude cas-temoins en Ille et Villaine. BEH. 2020;1:17-27.Collet M., Gagnaire B., Rousseau C. et al. L'exposition aux ecrans chez les jeunes enfants est-elle a l'origine de l'apparition de troubles primaires du langage ? Une etude cas-temoins en Ille et Villaine. BEH. 2020;1:17-27.Hutton J., Dudley J., Horowitz-Kraus T. et al. Associations between screen-based media use and brain white matter integrity in preschool-ages children. JAMA Pediatr. 2020;174(1):e193869. https://doi.org/10.1001/jamapediatrics.2019.3869.Hutton J., Dudley J., Horowitz-Kraus T. et al. Associations between screen-based media use and brain white matter integrity in preschool-ages children. JAMA Pediatr. 2020;174(1):e193869. https://doi.org/10.1001/jamapediatrics.2019.3869.De Lauzon-Guillain B., Marques C., Kadawathagedara M. et al. Maternal diet during pregnancy and child neurodevelopment up to age 3.5 years: the nationwide Étude Longitudinale Française depuisl'Enfance (ELFE) birth cohort. Am J Clin Nutr. 2022;116(4):1101–11. https://doi.org/10.1093/ajcn/nqac206.De Lauzon-Guillain B., Marques C., Kadawathagedara M. et al. Maternal diet during pregnancy and child neurodevelopment up to age 3.5 years: the nationwide Étude Longitudinale Française depuisl'Enfance (ELFE) birth cohort. Am J Clin Nutr. 2022;116(4):1101–11. https://doi.org/10.1093/ajcn/nqac206.Guo A., Ludvigsson, Brantsaeter A.L. et al. Early-life diet and risk of inflammatory bowel disease: A pooled study in two Scandinavian birth cohorts. Gut. 2024;73(4):590-600. https://doi.org/10.1136/gutjnl-2023-330971.Guo A., Ludvigsson, Brantsaeter A.L. et al. Early-life diet and risk of inflammatory bowel disease: A pooled study in two Scandinavian birth cohorts. Gut. 2024;73(4):590-600. https://doi.org/10.1136/gutjnl-2023-330971.Dehaene-Lambertz G., Spelke E. The infancy of the human brain. Neuron. 2015;88(1):93-109. https://doi.org/10.1016/j.neuron.2015.09.026.Dehaene-Lambertz G., Spelke E. The infancy of the human brain. Neuron. 2015;88(1):93-109. https://doi.org/10.1016/j.neuron.2015.09.026.Kouider S., Stalhut K., Gelskov S.V. A neural marker of perceptual consciousness in infants. Science. 2013;340(6130):376-80. https://doi.org/10.1126/science.1232509.Kouider S., Stalhut K., Gelskov S.V. A neural marker of perceptual consciousness in infants. Science. 2013;340(6130):376-80. https://doi.org/10.1126/science.1232509.Dehaene S, Lau H, Kouider S. What is consciousness, and could machines have it? Science. 2017;358(6362):486-92. https://doi.org/10.1126/science.aan8871.Dehaene S, Lau H, Kouider S. What is consciousness, and could machines have it? Science. 2017;358(6362):486-92. https://doi.org/10.1126/science.aan8871.Cuillerier L., Genest C., Lefebvre H. Trouble du spectre de l'autisme: intervenir aupres de la clientele adolescente et de sa famille. Perspect Infirm. 2019;16(1):54-61.Cuillerier L., Genest C., Lefebvre H. Trouble du spectre de l'autisme: intervenir aupres de la clientele adolescente et de sa famille. Perspect Infirm. 2019;16(1):54-61.Jeune M.A., Suarez B. Cocooning developpemental. Paris, Odile Jacob, 2025.Jeune M.A., Suarez B. Cocooning developpemental. Paris, Odile Jacob, 2025.Green J., Charman T., Pickles A. et al.; BASIS team. Parent-mediated intervention versus no intervention for infants at high risk of autism: A parallel, single-blind, randomized trial. Lancet Psychiatry. 2015;2(2):133- 40. https://doi.org/10.1016/S2215-0366(14)00091-1.Green J., Charman T., Pickles A. et al.; BASIS team. Parent-mediated intervention versus no intervention for infants at high risk of autism: A parallel, single-blind, randomized trial. Lancet Psychiatry. 2015;2(2):133- 40. https://doi.org/10.1016/S2215-0366(14)00091-1.Maruani A., Amsellem F., Tabet A.C. et al. Lithium et TSA. French Journal of Psychiatry. 2018;1:S45.Maruani A., Amsellem F., Tabet A.C. et al. Lithium et TSA. French Journal of Psychiatry. 2018;1:S45.Ioannidis V., Pandey R., Bauer H.F. et al. Disrupted extracellular matrix and cell genes in autism-associated Shank 3 deficiency are targeted by lithium. Mol Psychiatry. 2023;29(3):704-17. https://doi.org/10.1038/s41380-023-02362-y.Ioannidis V., Pandey R., Bauer H.F. et al. Disrupted extracellular matrix and cell genes in autism-associated Shank 3 deficiency are targeted by lithium. Mol Psychiatry. 2023;29(3):704-17. https://doi.org/10.1038/s41380-023-02362-y.Andre F., Rassy E., Marabelle A. et al. The waywename cancers needs to change. Nature. 2024;626(7997):26-9. https://doi.org/10.1038/d41586-024-00216-3Andre F., Rassy E., Marabelle A. et al. The waywename cancers needs to change. Nature. 2024;626(7997):26-9. https://doi.org/10.1038/d41586-024-00216-3

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