Нервно-мышечные болезни. 2025; 15: 39-52
Оценка социально-эмоционального, когнитивного, коммуникативного развития и адаптивного поведения детей со спинальной мышечной атрофией 5q
https://doi.org/10.17650/2222-8721-2025-15-1-39-52Аннотация
Введение. Спинальная мышечная атрофия 5q (СМА) – тяжелое наследственное нервно-мышечное заболевание, основным проявлением которого является мышечная слабость. Когнитивное развитие при естественном течении СМА ранее оценивалось как нормальное. Внедрение этиопатогенетической терапии привело к изменению траектории течения болезни, появлению новых фенотипов, увеличило выживаемость и подчеркнуло значимость исследований развития эмоциональной, когнитивной, коммуникативной сфер и адаптивного поведения у пациентов со СМА.
Цель исследования – провести комплексную оценку эмоциональной, когнитивной и адаптивной сфер, а также речевого развития у пациентов с генетически подтвержденным диагнозом СМА, включая случаи, выявленные по программе скрининга новорожденных, и не имеющих симптомов на момент начала этиопатогенетической терапии, определить факторы, влияющие на нервно-психическое развитие пациентов со СМА.
Материалы и методы. В исследование включено 87 пациентов со СМА в возрасте от 0 до 12 лет (медиана возраста на момент тестирования – 57,0 [37,0; 103,0] мес), получающих этиопатогенетическую терапию. Для оценки нервно-психического развития использовалась методика Developmental Profile 3 (DP-3). Статистический анализ проведен с применением программного пакета SPSS Statistics v.26.0 (IBM, США).
Результаты. У детей, получивших терапию на предсимптоматической стадии (6,9 % детей), не было снижения ни в одной из оцениваемых сфер развития и результаты значимо отличались от каждого из 3 типов СМА по субшкалам двигательных навыков (рadj <0,001) и адаптивного поведения (padj ≤0,026). Пациенты со СМА 1–3-го типа имели тяжелые двигательные нарушения (снижение при оценке двигательной сферы каждой из групп: 93,0; 89,7 и 88,9 % детей соответственно) и нарушения адаптивной сферы (снижение у ≥55 % в каждой из групп СМА 1–3-го типа). Пациенты со СМА 1-го типа помимо двигательных и адаптивных нарушений демонстрировали отставание в развитии в социально-эмоциональной (39,5 %), познавательной (30,2 %) и коммуникативной (39,5 %) сферах. Дети с более низким функциональным классом («лежачие») имели более значительное отставание в развитии в адаптивной, социальноэмоциональной и познавательной сферах (p ≤0,048). У пациентов в группе СМА 1-го типа малое число копий гена SMN2, ранний дебют коррелировали с более выраженными нарушениями эмоциональной, когнитивной и адаптивной сфер, а также речевого развития (с числом копий гена SMN2: р ≤0,034; с возрастом дебюта: р ≤0,012). Дети с клиническими симптомами СМА 1-го типа с нарушением глотания и дисфагией имели более низкие показатели по всем субшкалам, за исключением двигательных навыков (р ≤0,015). Дети с хронической дыхательной недостаточностью демонстрировали снижение показателей по каждой из 5 оцениваемых субшкал: в группе СМА 1-го типа хуже были двигательные навыки, адаптивная, социально-эмоциональная, познавательная сферы (р ≤0,045), в группе СМА 2-го типа – адаптивная, социально-эмоциональная, познавательная сферы (р ≤0,018). Задержка старта терапии в последующем ассоциирована с более низкими показателями двигательных навыков и адаптивного поведения при СМА 1 (р ≤0,012), 2 (р ≤0,002) и 3-го типа (р ≤0,048), а для СМА 2-го типа также с более низкими показателями социально-эмоциональной и познавательной сфер (р = 0,001).
Выводы. Пациенты со СМА, помимо двигательных нарушений, имеют нарушения адаптации, социализации, а также отставание в развитии коммуникативной и познавательной сфер. Требуется стандартизированный подход к выявлению данных нарушений и разработка адаптированных методик восстановления и реабилитации. Инициация этиопатогенетической терапии на предсимптоматической стадии обеспечит профилактику нейропсихических проявлений СМА.
Список литературы
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Neuromuscular Diseases. 2025; 15: 39-52
Assessment of social emotional, cognitive and communicative development and adaptive behavior in children with spinal muscular atrophy 5q
https://doi.org/10.17650/2222-8721-2025-15-1-39-52Abstract
Background. Spinal muscular atrophy 5q (SMA) is a severe genetic neuromuscular disorder, which is primarily manifested through musclar weakness. Previously, cognitive development in the natural course of SMA was considered normal. The introduction of etiopathogenetic therapy has altered the disease trajectory, led to new phenotypes, improved survival rates, and outlined the importance of studying the development of emotional, cognitive, and communicative domains, and adaptive behavior in SMA patients.
Aim. To conduct a comprehensive assessment of emotional, cognitive, and adaptive domains, as well as speech development, in patients with genetically confirmed SMA, including cases, which were identified through newborn screening programs and were asymptomatic at the initiation of etiopathogenetic therapy, and to identify factors influencing neuropsychic development in SMA patients.
Materials and methods. The study included 87 SMA patients receiving etiopathogenetic therapy, aged 0–12 years (median age at testing – 57.0 [37.0; 103.0] months). The Developmental Profile-3 (DP-3) instrument was used to assess neuropsychic development. Statistical analysis was performed using SPSS Statistics v.26.0 (IBM, USA).
Results. Children who received therapy at the presymptomatic stage (6.9 % of the cohort) showed no deficits in any assessed developmental domains. These results significantly differed from those of SMA types 1, 2, and 3 in motor skills (padj <0.001) and adaptive behavior (padj ≤0.026). Patients with SMA types 1, 2, and 3 exhibited severe motor impairments (reduced motor skills in 93.0 %, 89.7 %, and 88.9 % of children, respectively) and adaptive deficits (impairments in ≥55 % of each group). SMA type 1 patients additionally demonstrated delays in social emotional (39.5 %), cognitive (30.2 %), and communicative (39.5 %) domains. Children with lower functional status (“lying”) had more pronounced delays in adaptive, social emotional, and cognitive domains (p ≤0.048). In SMA type 1, fewer SMN2 gene copies and earlier disease onset correlated with more severe deficits in emotional, cognitive, and adaptive domains, as well as in speech development (SMN2 copies: p ≤0.034; age of onset: p ≤0.012). SMA type 1 patients with dysphagia showed lower scores across all subscales except motor skills (p ≤0.015). Chronic respiratory insufficiency was associated with reduced scores in all five subscales: in SMA type 1, motor skills, adaptive, social emotional, and cognitive domains were affected (p ≤0.045); in SMA type 2, adaptive, social emotional, and cognitive domains were affected (p ≤0.018). Delayed therapy initiation correlated with lower motor and adaptive scores in SMA types 1 (p ≤0.012), 2 (p ≤0.002), and 3 (p ≤0.048), and with worse social emotional and cognitive outcomes in SMA type 2 (p = 0.001).
Conclusion. SMA patients exhibit not only motor impairments but also adaptive and socialization deficits, as well as delays in communicative and cognitive development. A standardized approach to identifying these impairments should be developed, and developing tailored rehabilitation methods is important as well. Initiating etiopathogenetic therapy at the presymptomatic stage may prevent neuropsychiatric manifestations of SMA.
References
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