Children's medicine of the North-West

Selected etiopathogenetic aspects of autism spectrum disorders: focus on gut dysfunction and microRNAs

GASTROENTEROLOGY AND DIETOLOGY

Keywords:
autism spectrum disorders autism genome gut microbiota intestinal permeability disorder microRNA расстройства аутистического спектра аутизм геном микробиота кишечника нарушение проницаемости кишечника микроРНК

Abstract

Autism spectrum disorders are neurodevelopmental disorders characterized by abnormalities in social interaction, communication, and stereotypical, repetitive behaviors. These qualitative abnormalities are common features of an individual’s functioning in all situations and can vary significantly in severity. The global prevalence of autism spectrum disorders at the end of 2021 was 0.6%. According to statistics from the Russian State Psychiatric Service, more than 36,000 people were registered with autism in 2019, representing 2.5 individuals per 10,000 population, or 1 in 4,000 people. Most studies on the epidemiology of autism spectrum disorders report significantly higher prevalence figures. The basis for research into the etiology of autism spectrum disorders is to identify the specificity of the underlying conditions in relation to the presenting symptoms of the disease. Due to the heterogeneity of genotypic variants and phenotypic manifestations, researchers face numerous challenges and are unable to draw uniform conclusions. The purpose of this review is to review and analyze data on the etiopathogenesis of autism spectrum disorders to improve our understanding of the pathophysiology of the disease. We have identified objectives to achieve this goal. In the first stage, a comprehensive search of the e LIBRARY, Pub Med, Scopus, and Web of Science databases was conducted for articles published between 2010 and 2025. The review included original studies, systematic reviews, and meta-analyses published in Russian and English. In the second stage, 99 articles containing information on the genetic structure, environmental factors, and other analyzed aspects of autism spectrum disorders were selected and analyzed. Finally, the authors concluded that further research on the nature of autism spectrum disorders is warranted and that the most promising research directions are identified. An information-analytical method was used to write this literature review.

Author Biographies

Elena V. Loshkova, Siberian State Medical University; Medical Genetic Research Center named after Academician N.P. Bochkov; Children’s City Hospital No. 1

Dr. Sci. (Med.), Associate Professor, Professor of the Department of Hospital Pediatrics, Siberian State Medical University; Leading Researcher, Medical Genetic Research Center Named after Academician N.P. Bochkov;Leading Research Fellow, Children’s City Hospital No. 1

Zainutdinkhuzha F. ugli Sayfitdinkhuzhaev, Siberian State Medical University; City Clinical Hospital No. 1

Ph D Candidate in the Department of Neurology and Neurosurgery, Siberian State Medical University; intern in the Department of Neurology at the City Clinical Hospital No. 1 of the Ministry
of Health of Republic of Uzbekistan

Elena V. Romanova, Siberian State Medical University

Cand. Sci. (Med.), Associate Professor,Department of Microbiology and Virology

Marina V. Fedosova, Siberian State Medical University

5thyear student in the Faculty of Pediatrics

Anastasia A. Khatkevich, Siberian State Medical University

Assistant Professor, Department of Pediatrics with a Course in Endocrinology

Andrey L. Solnyshko, Siberian State Medical University; Children’s City Hospital No. 1

Cand. Sci. (Med.), Associate Professor, Department of Anesthesiology, Resuscitation, and Intensive Care, Siberian State Medical University; Chief Physician, Children’s Hospital No. 1

Aleksandr V. Budkin, Children’s City Hospital No. 1; Regional specialized orphanage for children with organic lesions of the central nervous system and mental disorders

pediatrician, Palliative Care Department, RegionalspecializedChildren’s Home; pediatrician, Children’s Hospital No. 1

Elena A. Balakireva, Belgorod State National Research University

Dr. Sci. (Med.), Associate Professor, Head of the Department of Pediatrics

Olga V. Voronkova, Siberian State Medical University

Dr. Sci. (Med.), Professor, Head of the Department of Biology and Genetics

Alena V. Zaitseva, Siberian State Medical University

1styear Resident, Department of Dermatovenereology

Svetlana V. Samarina, Siberian State Medical University

Cand. Sci. (Med.), Associate Professor of the Department of Pediatrics with Endocrinology Course

Anatoly I. Khavkin, Scientific Research Clinical Institute of Childhood of the Ministry of Health of the Moscow Region; Belgorod State National Research University

Dr. Sci. (Med.), Professor, Director of the A.V. Mazurin Moscow Regional Center for Pediatric Gastroenterology and Hepatology, Research Clinical Institute of Childhood, Ministry of Health of the Moscow Region; Professor of the Department of Pediatrics, Medical Institute, Belgorod State National Research University

Dilorom A. Nurmatova, City Clinical Hospital No. 1

Ph D, Cand. Sci. (Med.), Associate Professor, Head of the Neurology Department, City Clinical Hospital No. 1, Ministry of Health of Republic of Uzbekistan

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How to Cite
Selected etiopathogenetic aspects of autism spectrum disorders: focus on gut dysfunction and microRNAs: GASTROENTEROLOGY AND DIETOLOGY. (2026). Children’s Medicine of the North-West, 14(2), 103-121. https://doi.org/10.56871/
Issue
Vol. 14 No. 2 (2026)
Section
Reviews
Published
2026-07-30

How to Cite

Selected etiopathogenetic aspects of autism spectrum disorders: focus on gut dysfunction and microRNAs: GASTROENTEROLOGY AND DIETOLOGY. (2026). Children’s Medicine of the North-West, 14(2), 103-121. https://doi.org/10.56871/