neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2025-6-4-209-220glkqnkneurojour-204Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL INVESTIGATIONSРоль реабилитации в развитии моторных навыков у пациентов со спинальной мышечной атрофией 5q, получающих патогенетическую терапиюThe role of rehabilitation in the development of motor skills in patients with spinal muscular atrophy 5q receiving pathogenetic therapyhttps://orcid.org/0000-0003-3794-6855ПапинаЮлия ОлеговнаPapinaYuliya O.

Врач-невролог отд. детской психоневрологии № 2 НИКИ педиатрии и детской хирургии им. академика Ю.Е. Вельтищева ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России, 125412, Москва, Россия

e-mail: papina.u@pedklin.ru

Neurologist of the Department of psychoneurology No. 2, Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University, Moscow, 125412, Russian Federation

e-mail: papina.u@pedklin.ru

papina.u@pedklin.ruhttps://orcid.org/0009-0004-4814-7316СтевановичАлександр РаденковичStevanovichAleksandr R.

Специалист по физической реабилитации, специалист по подбору и адаптации ТСР, НИКИ педиатрии и детской хирургии им. академика Ю.Е. Вельтищева ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России, 125412, Москва, Россия

e-mail: stevanovich.a@yandex.ru

Specialist in physical rehabilitation and in the selection and adaptation of assistive devices, Branch of the Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University, Moscow, 125412, Russian Federation

e-mail: stevanovich.a@yandex.ru

stevanovich.a@yandex.ruhttps://orcid.org/0000-0001-5436-836XМельникЕвгения АлександровнаMelnikEvgeniya A.

Канд. мед. наук, ведущ. науч. сотр. научно-консультативного отд. МГНЦ им. акад. Н.П. Бочкова, 115522, Москва, Россия; мл. науч. сотр. отд. психоневрологии и эпилептологии НИКИ педиатрии и детской хирургии им. академика Ю.Е. Вельтищева ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России, 125412, Москва, Россия

e-mail: evmel88@gmail.com

PhD (Medicine), leading researcher, Research and counseling department, Research Center for Medical Genetics, Moscow, 115522, Russian Federation; junior researcher, Department of psychoneurology and epileptology, Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University, Moscow, 125412, Russian Federation

e-mail: evmel88@gmail.com

evmel88@gmail.comhttps://orcid.org/0000-0002-8876-7462АртемьеваСветлана БрониславовнаArtemyevaSvetlana B.

Канд. мед. наук, отд. детской психоневрологии № 2 НИКИ педиатрии и детской хирургии им. академика Ю.Е. Вельтищева ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России, 125412, Москва, Россия

e-mail: artemievasb@gmail.com

PhD (Mediicne), Head, Neurological department, Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University, Moscow, 125412, Russian Federation

e-mail: artemievasb@gmail.com

artemievasb@gmail.comhttps://orcid.org/0000-0003-2635-2752ВлодавецДмитрий ВладимировичVlodavetsDmitry V.

Канд. мед. наук, доц., руководитель Российского детского нервно-мышечного центра, ведущ. науч. сотр. отд. психоневрологии и эпилептологии НИКИ педиатрии и детской хирургии им. академика Ю.Е. Вельтищева ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России, 125412, Москва, Россия

e-mail: mityaus@gmail.com

PhD (Medicine), Associated Professor, Head, Russian Children’s Neuromuscular Center, leading researcher, Department of psychoneurology and epileptology, Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University, Moscow, 125412, Russian Federation

e-mail: mityaus@gmail.com

mityaus@gmail.comОСП Научно-исследовательский клинический институт педиатрии и детской хирургии имени академика Ю.Е. Вельтищева ФГАОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Минздрава РоссииVeltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical UniversityОСП Научно-исследовательский клинический институт педиатрии и детской хирургии имени академика Ю.Е. Вельтищева ФГАОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Минздрава России; ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University; Research Center for Medical Genetics20253101202664209220Copyright © Папина Ю.О., Стеванович А.Р., Мельник Е.А., Артемьева С.Б., Влодавец Д.В., 20262026Папина Ю.О., Стеванович А.Р., Мельник Е.А., Артемьева С.Б., Влодавец Д.В.Papina Y.O., Stevanovich A.R., Melnik E.A., Artemyeva S.B., Vlodavets D.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.neuro-journal.ru/jour/article/view/204Введение

Введение. Спинальная мышечная атрофия 5q (СМА) — прогрессирующее нейромышечное заболевание, обусловленное мутацией в гене SNN1. Патогенетическая терапия существенно изменила естественное течение заболевания, но не обеспечила полного восстановления ранее утраченных моторных функций. На фоне сохраняющейся мышечной слабости реабилитация остаётся важнейшим компонентом комплексного ведения пациентов. Цель исследования — оценить объём и структуру реабилитации у пациентов со СМА 1–3-го типов, получающих патогенетическую терапию, и определить её связь с динамикой моторного развития по числу моторных навыков.

Материалы и методы

Материалы и методы. В исследование включено 143 пациента со СМА 1–3-го типов (59 — СМА 1-го типа; 52 — СМА 2-го типа; 32 — СМА 3-го типа) в возрасте 0–18 лет. Медиана времени до начала патогенетической терапии от дебюта заболевания равнялась 6,0 [3,0; 13,0] мес при СМА 1-го типа, 45,0 [14,0; 90,0] мес при СМА 2-го типа и 100,0 [67,0; 147,5] мес при СМА 3-го типа. Период наблюдения составил 3 года от инициации патогенетической терапии. Функциональный статус оценивали по 8 моторным навыкам согласно критериям ВОЗ. Объём реабилитации определяли по опросу и медицинской документации.

Результаты

Результаты. На фоне патогенетической терапии у пациентов со СМА 1-го типа отмечена положительная динамика развития к конечной точке наблюдения: удержание головы увеличилось с 35,6% случаев до 82,5%, перевороты — с 1,7% до 67,5%, самостоятельное сидение достигнуто у 75% детей, у 15% появилась опора на ноги. У пациентов со СМА 2-го типа на патогенетической терапии зафиксирована стабилизация базовых функций и умеренный прирост сложных моторных навыков (освоение ползания увеличилось с 12,5% до 17,4% пациентов; стояния с поддержкой — с 8,3% до 21,7%; ходьбы с поддержкой — с 2,1% до 13%; самостоятельной ходьбы — до 7,9%). В группе пациентов со СМА 3-го типа моторная динамика на фоне патогенетической терапии характеризовалась преимущественно сохранением имеющихся навыков с отдельными улучшениями (например, рост частоты ползания до 42,9% и единичный случай появления самостоятельной ходьбы у исходно «сидячего» пациента). У исходно «ходячих» пациентов со СМА 3-го типа отмечалась стабилизация состояния. Выявлена значимая связь между числом приобретённых моторных навыков и объёмом реабилитации у пациентов со СМА 1-го типа, а также у исходно «сидячих» пациентов со СМА 2-го и 3-го типов (p ≤ 0,014). У пациентов со СМА 1-го типа регулярная комплексная реабилитация обеспечивала достоверно более высокие показатели моторных навыков по сравнению со всеми другими подходами (ppadj < 0,001). У пациентов со СМА 2-го типа регулярные формы реабилитации (комплексная или домашняя) демонстрировали преимущество перед курсовой реабилитацией (ppadj ≤ 0,024). В группе со СМА 3-го типа у сидячих пациентов реабилитация курсами (курсовая) в течение года приводила к лучшему моторному ответу на лечение по сравнению с детьми, не получающими реабилитации (ppadj = 0,028).

Заключение

Заключение. Реабилитационные мероприятия на регулярной основе, особенно в комплексе с курсами на базе медицинских центров, были связаны с лучшим моторным ответом на патогенетическую терапию как у пациентов со СМА 1-го типа, так и у исходно «сидячих» пациентов со СМА 2-го и 3-го типов. Полученные данные подтверждают важную роль непрерывной реабилитации в составе стандарта ведения пациента со СМА как необходимого условия достижения наилучшего моторного прогресса при современных терапевтических патогенетических подходах.

Соблюдение этических стандартов. Исследование одобрено локальным этическим комитетом РНИМУ им. Пирогова (протокол № 226 от 20.02.2023).

Участие авторов

Участие авторов:Папина Ю.О. — обзор публикаций по теме статьи, сбор и анализ данных, написание текста статьи, формулирование выводов;Стеванович А.Р. — обзор публикаций по теме статьи, написание текста статьи;Мельник Е.А. — редактирование статьи, формулирование выводов;Артемьева С.Б. — координация исследования;Влодавец Д.В. — координация исследования, редактирование статьи.

Конфликт интересов

Конфликт интересов. Авторы заявляют об отсутствии конфликта интересов.

Финансирование

Финансирование. Исследование не имело спонсорской поддержки.

Поступила 03

Поступила 03.11.2025Принята к печати 01.12.2025Опубликована 31.01.2026

Introduction

Introduction. Spinal muscular atrophy (SMA) 5q is a progressive neuromuscular disorder caused by a mutation in the SMN1 gene. Pathogenetic therapy has significantly altered the natural course of the disease but has not ensured complete restoration of previously lost motor functions. Given the persistence of muscle weakness, rehabilitation remains a crucial component of comprehensive patient management. Objective of the study. To assess the volume and structure of rehabilitation in patients with SMA types 1–3 receiving pathogenetic therapy and determine its association with the trend in motor development based on the number of motor skills.

Materials and methods

Materials and methods. The study included one hundred forty three patients with SMA types 1–3 (59 — SMA 1; 52 — SMA 2; 32 — SMA 3) aged of 0–18 years. The median time from the disease onset to the initiation of pathogenetic therapy was 6.0 [3.0; 13.0] months in SMA type 1, 45.0 [14.0; 90.0] months in SMA type 2, and 100.0 [67.0; 147.5] months in SMA type 3. The observation period was 3 years from the initiation of pathogenetic therapy. Functional status was assessed using eight motor skills according to WHO criteria. The volume of rehabilitation was determined through interviews and medical documentation. Statistical analysis was performed using SPSS Statistics, version 26.0 (IBM, USA).

Results

Results. During pathogenetic therapy, patients with SMA type 1 demonstrated positive developmental course by the end of the follow-up period: head control increased from 35.6% to 82.5%, rolling from 1.7% to 67.5%, independent sitting was achieved in 75% of children, and 15% developed the ability to bear weight on their legs. In patients with SMA type 2, pathogenetic therapy resulted in stabilization of basic functions and a moderate increase in more complex motor skills (crawling improved from 12.5% to 17.4%; supported standing from 8.3% to 21.7%; assisted walking from 2.1% to 13%; independent walking — 7.9%). In the SMA type 3 group, motor progress on therapy was characterized mainly by preservation of existing skills with some improvements (e.g., an increase in the frequency of crawling to 42.9% and a single case of new-onset independent walking in a baseline “sitter”). In baseline “walkers” with SMA type 3, stabilization was observed. A significant association was identified between the number of acquired motor skills and the volume of rehabilitation in patients with SMA type 1, as well as in baseline “sitters” with SMA types 2 and 3 (p ≤ 0.014). In SMA type 1, regular comprehensive rehabilitation resulted in significantly higher motor skill scores compared with all other approaches (ppadj < 0.001). In SMA type 2, regular forms of rehabilitation (comprehensive or home-based) demonstrated advantages over course-based rehabilitation (ppadj ≤ 0.024). In the SMA type 3 group, among “sitters,” course-based rehabilitation during the year led to a better motor response to therapy compared with children receiving no rehabilitation (ppadj = 0.028).

Conclusions

Conclusions. Regular rehabilitation interventions, especially when combined with center-based rehabilitation courses, were associated with better motor responses to pathogenetic therapy in both SMA type 1 patients and baseline “sitters” with SMA types 2 and 3. These findings confirm the important role of continuous rehabilitation as part of the standard of care for SMA, serving as a necessary condition for achieving optimal motor progress under modern pathogenetic therapeutic approaches.

Compliance with ethical standards. The study was approved by the local ethics committee of the Pirogov Russian National Research Medical University (protocol No. 226 dated February 20, 2023).

Contributions

Contributions:Papina Yu.O — literature review, data collection and analysis, manuscript preparation, formulation of conclusions;Stevanovich A.R. — literature review, manuscript preparation;Melnik E.A. — manuscript editing, formulation of conclusions;Artemyeva S.B. — study coordination;Vlodavets D.V. — study coordination, manuscript editing.All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Funding

Funding. The study had no sponsorship.

Conflict of interest

Conflict of interest. The authors declare no conflict of interest.

Received

Received: November 3, 2025Accepted: December 1, 2025Published: January 31, 2026

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