nogrЭкспериментальная и клиническая гастроэнтерологияExperimental and Clinical Gastroenterology1682-8658«Global Media Technologies»10.31146/1682-8658-ecg-233-1-65-70nogr-2942Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESНарушения пищевого поведения у детей с расстройством аутистического спектра: генетические аспектыEating disorders in children with autism spectrum disorder: genetic aspectshttps://orcid.org/0000-0001-5736-9624ГуменюкО. И.GumenyukO. I.noemail@neicon.ruhttps://orcid.org/0000-0002-1388-1842ЛобановМ. Е.LobanovM. E.noemail@neicon.ruhttps://orcid.org/0000-0002-6896-7563ЧерненковЮ. В.ChernenkovYu. V.noemail@neicon.ruhttps://orcid.org/0000-0002-7511-3240ГрозноваО. С.GroznovaO. S.noemail@neicon.ruhttps://orcid.org/0009-0004-6305-8231КурбановР. С.KurbanovR. S.noemail@neicon.ruhttps://orcid.org/0009-0003-7518-6057РубцовА. А.RubtsovA. A.noemail@neicon.ruhttps://orcid.org/0009-0004-0955-9756АвакянА. М.AvakyanA. M.noemail@neicon.ruhttps://orcid.org/0009-0000-6102-0695АлимагомедовИ. А.AlimagomedovI. A.noemail@neicon.ruhttps://orcid.org/0009-0009-7218-8261АбдулаевМ. А.AbdullayevM. A.noemail@neicon.ruФГБОУ ВО «Саратовский государственный медицинский университет имени В.И. Разумовского»РоссияSaratov State Medical University named after V.I. Razumovsky (Razumovsky University)Russian FederationОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России; Федеральное государственное автономное образовательное учреждение высшего образования «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Министерства здравоохранения Российской ФедерацииРоссияRSP “Research Clinical Institute of Pediatrics named after Academician Yu.E. Veltischev” FSBEI HE RNIMU named after N.I. Pirogov of the Ministry of Health of the Russian Federation; N.I. Pirogov Russian National Research Medical UniversityRussian Federation202517012025016570Copyright © Гуменюк О.И., Лобанов М.Е., Черненков Ю.В., Грознова О.С., Курбанов Р.С., Рубцов А.А., Авакян А.М., Алимагомедов И.А., Абдулаев М.А., 20252025Гуменюк О.И., Лобанов М.Е., Черненков Ю.В., Грознова О.С., Курбанов Р.С., Рубцов А.А., Авакян А.М., Алимагомедов И.А., Абдулаев М.А.Gumenyuk O.I., Lobanov M.E., Chernenkov Y.V., Groznova O.S., Kurbanov R.S., Rubtsov A.A., Avakyan A.M., Alimagomedov I.A., Abdullayev M.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.nogr.org/jour/article/view/2942

Расстройство аутистического спектра (РАС) - группа заболеваний, с присущими проблемами в социальной коммуникации и проявлениями стереотипного поведения, часто сопровождающимися различными сопутствующими заболеваниями. Нарушения пищевого поведения - одна из наиболее распространённых, но часто игнорируемых проблем у детей с РАС, встречающаяся у 51-89% детей с этим расстройством. В рамках данного исследования был проведён анализ генетических факторов, связанных с нарушениями пищевого поведения у детей с РАС, с применением полногеномного секвенирования и секвенирования по Сэнгеру в выборке из 28 детей. Были выявлены патогенные мутации в нескольких генах, таких как ANKRD11, ARID1B и UBE3A, которые влияют на нейропластичность и сенсорное восприятие. Результаты исследования подчеркивают налиие связи между нарушением пищевого поведения при РАС и генетическими мутациями. Понимание этих генетических факторов может привести к разработке более эффективных методов лечения и коррекции нарушений пищевого поведения, обеспечивая возможность для персонализированного подхода в терапии. Это исследование подтверждает важность включения генетического тестирования в клиническую практику для более точного прогноза и улучшения качества жизни детей с РАС.

Autism spectrum disorder (ASD) is a group of disorders with inherent problems in social communication and stereotypical behaviour, often accompanied by various comorbidities. Eating disorders are one of the most common but often neglected problems in children with ASD occurring in 51-89% of children with the disorder. This study analysed genetic factors associated with eating disorders in children with ASD using a whole-genome sequencing and a Sanger sequencing in a sample of 28 children. Pathogenic mutations in several genes such as ANKRD11, ARID1B and UBE3A, which affect neuroplasticity and sensory perception, were identified. The results of the study emphasize the link between eating disorders in ASD and genetic mutations. Understanding these genetic factors may lead to the development of more effective treatments and management of eating disorders allowing for a personalised approach to the therapy. This study confirms the importance of the incorporating genetic testing into a clinical practice to better predict and improve the quality of life of children with ASD.

расстройство аутистического спектрадетипитаниенарушение пищевого поведенияautism spectrum disorderchildrennutritioneating disordersReferencesLord C., Elsabbagh M., Baird G., Veenstra-Vanderweele J. Autism spectrum disorder. Lancet. 2018; 392(10146): 508-520. doi: 10.1016/S0140-6736(18)31129-2.Lord C., Elsabbagh M., Baird G., Veenstra-Vanderweele J. Autism spectrum disorder. Lancet. 2018; 392(10146): 508-520. doi: 10.1016/S0140-6736(18)31129-2.Lai M.C., Lombardo M.V., Baron-Cohen S. Autism. Lancet. 2014; 383(9920): 896-910. doi: 10.1016/S0140-6736(13)61539-1.Lai M.C., Lombardo M.V., Baron-Cohen S. Autism. Lancet. 2014; 383(9920): 896-910. doi: 10.1016/S0140-6736(13)61539-1.Thapar A., Rutter M. Genetic Advances in Autism. Journal of autism and developmental disorders. 2021; 51(12): 4321-4332. doi: 10.1007/s10803-020-04685-z.Thapar A., Rutter M. Genetic Advances in Autism. Journal of autism and developmental disorders. 2021; 51(12): 4321-4332. doi: 10.1007/s10803-020-04685-z.Gaona V.A. Etiología del autismo. MEDICINA (Buenos Aires). 2024; 84(Supl. I): 31-36.Gaona V.A. Etiología del autismo. MEDICINA (Buenos Aires). 2024; 84(Supl. I): 31-36.Strunz S., Dziobek I., Roepke S.Comorbid psychiatric disorders and differential diagnosis of patients with autism spectrum disorder without intellectual disability. Psychotherapie, Psychosomatik, Medizinische Psychologie. 2013; 64(6): 206-213. doi: 10.1055/s-0033-1358708.Strunz S., Dziobek I., Roepke S.Comorbid psychiatric disorders and differential diagnosis of patients with autism spectrum disorder without intellectual disability. Psychotherapie, Psychosomatik, Medizinische Psychologie. 2013; 64(6): 206-213. doi: 10.1055/s-0033-1358708.Khachadourian V., Mahjani B., Sandin S. et al.Comorbidities in autism spectrum disorder and their etiologies. Transl Psychiatry. 2023; 13(1): 71. doi: 10.1038/s41398-023-02374-w.Khachadourian V., Mahjani B., Sandin S. et al.Comorbidities in autism spectrum disorder and their etiologies. Transl Psychiatry. 2023; 13(1): 71. doi: 10.1038/s41398-023-02374-w.Madra M., Ringel R., Margolis K.G. Gastrointestinal Issues and Autism Spectrum Disorder. Child Adolesc Psychiatr Clin N Am. 2020; 29(3): 501-513. doi: 10.1016/j.chc.2020.02.005.Madra M., Ringel R., Margolis K.G. Gastrointestinal Issues and Autism Spectrum Disorder. Child Adolesc Psychiatr Clin N Am. 2020; 29(3): 501-513. doi: 10.1016/j.chc.2020.02.005.Antshel K.M., Russo N. Autism Spectrum Disorders and ADHD: Overlapping Phenomenology, Diagnostic Issues, and Treatment Considerations. Curr Psychiatry Rep. 2019; 21(5): 34. doi: 10.1007/s11920-019-1020-5.Antshel K.M., Russo N. Autism Spectrum Disorders and ADHD: Overlapping Phenomenology, Diagnostic Issues, and Treatment Considerations. Curr Psychiatry Rep. 2019; 21(5): 34. doi: 10.1007/s11920-019-1020-5.Chen S., Xiong J., Chen B. et al. Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort. Clin Chim Acta. 2022; 524: 179-186. doi: 10.1016/j.cca.2021.11.014.Chen S., Xiong J., Chen B. et al. Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort. Clin Chim Acta. 2022; 524: 179-186. doi: 10.1016/j.cca.2021.11.014.Lobanov M.E., Chursina E.M., Consequently T.E. Nutrigenetic features in children with autism spectrum disorder.Russian Pediatric Journal. 2024; 27(2): 43. (In Russ.)@@ Лобанов М.Е., Чурсина Е.М., Послед Т.Е. Нутригенетические особенности у детей с расстройством аутистического спектра. Российский педиатрический журнал. 2024; 27(2): 43.Lobanov M.E., Chursina E.M., Consequently T.E. Nutrigenetic features in children with autism spectrum disorder.Russian Pediatric Journal. 2024; 27(2): 43. (In Russ.)@@ Лобанов М.Е., Чурсина Е.М., Послед Т.Е. Нутригенетические особенности у детей с расстройством аутистического спектра. Российский педиатрический журнал. 2024; 27(2): 43.Tye C. et al. Characterizing the Interplay Between Autism Spectrum Disorder and Comorbid Medical Conditions: An Integrative Review. Frontiers in Psychiatry. 2019; 27(10): 438. doi: 10.3389/fpsyt.2019.00438.Tye C. et al. Characterizing the Interplay Between Autism Spectrum Disorder and Comorbid Medical Conditions: An Integrative Review. Frontiers in Psychiatry. 2019; 27(10): 438. doi: 10.3389/fpsyt.2019.00438.Margari L. et al. Eating and Mealtime Behaviors in Patients with Autism Spectrum Disorder: Current Perspectives. Neuropsychiatric disease and treatment. 2020; 16: 2083-2102. doi: 10.2147/NDT.S224779.Margari L. et al. Eating and Mealtime Behaviors in Patients with Autism Spectrum Disorder: Current Perspectives. Neuropsychiatric disease and treatment. 2020; 16: 2083-2102. doi: 10.2147/NDT.S224779.Kozak A. et al. Avoidant/Restrictive Food Disorder (ARFID), Food Neophobia, Other Eating-Related Behaviours and Feeding Practices among Children with Autism Spectrum Disorder and in Non-Clinical Sample: A Preliminary Study.International journal of environmental research and public health. 2023; 20(10): 5822. doi: 10.3390/ijerph20105822.Kozak A. et al. Avoidant/Restrictive Food Disorder (ARFID), Food Neophobia, Other Eating-Related Behaviours and Feeding Practices among Children with Autism Spectrum Disorder and in Non-Clinical Sample: A Preliminary Study.International journal of environmental research and public health. 2023; 20(10): 5822. doi: 10.3390/ijerph20105822.Nimbley E. et al. Sensory processing and eating behaviours in autism: A systematic review. European eating disorders review: the journal of the Eating Disorders Association. 2022; 30(5): 538-559. doi: 10.1002/erv.2920.Nimbley E. et al. Sensory processing and eating behaviours in autism: A systematic review. European eating disorders review: the journal of the Eating Disorders Association. 2022; 30(5): 538-559. doi: 10.1002/erv.2920.Ramírez-Valenzuela D.G., Ramos Jimenez A., et al. Food Selectivity and Its Implications Associated with Gastrointestinal Disorders in Children with Autism Spectrum Disorders. Nutrients. 2022; 14(13): 2660. doi: 10.3390/nu14132660.Ramírez-Valenzuela D.G., Ramos Jimenez A., et al. Food Selectivity and Its Implications Associated with Gastrointestinal Disorders in Children with Autism Spectrum Disorders. Nutrients. 2022; 14(13): 2660. doi: 10.3390/nu14132660.Babinska K. et al. Gastrointestinal symptoms and feeding problems and their associations with dietary interventions, food supplement use, and behavioral characteristics in a sample of children and adolescents with autism spectrum disorders.International Journal of Environmental Research and Public Health. 2020; 17(17): 6372. doi: 10.3390/ijerph17176372.Babinska K. et al. Gastrointestinal symptoms and feeding problems and their associations with dietary interventions, food supplement use, and behavioral characteristics in a sample of children and adolescents with autism spectrum disorders.International Journal of Environmental Research and Public Health. 2020; 17(17): 6372. doi: 10.3390/ijerph17176372.Wallace G.L. et al. Autism spectrum disorder and food neophobia: clinical and subclinical links. The American journal of clinical nutrition. 2018; 108(4): 701-707.Wallace G.L. et al. Autism spectrum disorder and food neophobia: clinical and subclinical links. The American journal of clinical nutrition. 2018; 108(4): 701-707.Berg L.M. et al. The neuroanatomical substrates of autism and ADHD and their link to putative genomic underpinnings. Molecular autism. 2023; 14(1): 36. doi: 10.1186/s13229-023-00568-z.Berg L.M. et al. The neuroanatomical substrates of autism and ADHD and their link to putative genomic underpinnings. Molecular autism. 2023; 14(1): 36. doi: 10.1186/s13229-023-00568-z.Wang C. et al. Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD. Neuron. 2024; 112(9): 1444-1455. doi: 10.1016/j.neuron.2024.01.029.Wang C. et al. Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD. Neuron. 2024; 112(9): 1444-1455. doi: 10.1016/j.neuron.2024.01.029.Li X. et al. Structural, Functional, and Molecular Imaging of Autism Spectrum Disorder. Neuroscience bulletin. 2021; 37(7): 1051-1071. doi: 10.1007/s12264-021-00673-0.Li X. et al. Structural, Functional, and Molecular Imaging of Autism Spectrum Disorder. Neuroscience bulletin. 2021; 37(7): 1051-1071. doi: 10.1007/s12264-021-00673-0.Caputi V. et al. Functional contribution of the intestinal microbiome in autism spectrum disorder, attention deficit hyperactivity disorder, and Rett syndrome: a systematic review of pediatric and adult studies. Frontiers in neuroscience. 2024; 18; 1341656. doi: 10.3389/fnins.2024.1341656.Caputi V. et al. Functional contribution of the intestinal microbiome in autism spectrum disorder, attention deficit hyperactivity disorder, and Rett syndrome: a systematic review of pediatric and adult studies. Frontiers in neuroscience. 2024; 18; 1341656. doi: 10.3389/fnins.2024.1341656.Lubbers K. et al. Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison. Frontiers in psychiatry. 2022; 13: 852208. doi: 10.3389/fpsyt.2022.852208.Lubbers K. et al. Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison. Frontiers in psychiatry. 2022; 13: 852208. doi: 10.3389/fpsyt.2022.852208.Van Dongen L.C. et al.Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study. Frontiers in behavioral neuroscience. 2017; 11: 248. doi: 10.3389/fnbeh.2017.00248.Van Dongen L.C. et al.Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study. Frontiers in behavioral neuroscience. 2017; 11: 248. doi: 10.3389/fnbeh.2017.00248.Sabariego-Navarro M. et al. Neurodevelopmental disorders: 2022 update. Free neuropathology. 2022; 3: 3-8. doi: 10.17879/freeneuropathology-2022-3801.Sabariego-Navarro M. et al. Neurodevelopmental disorders: 2022 update. Free neuropathology. 2022; 3: 3-8. doi: 10.17879/freeneuropathology-2022-3801.

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