Table_1_Cognitive impairment in Chinese adult patients with type III spinal muscular atrophy without disease-modifying treatment.docx

ObjectiveSpinal muscular atrophy (SMA) is a neurodegenerative disorder characterized by the degeneration of motor neurons in the spinal cord. It remains uncertain whether the cognitive performance of adult patients with SMA is impaired. The objective of this study was to assess the cognitive profile of adult Chinese patients with SMA and the association between clinical features and cognitive ability, particularly executive function.
MethodsThis cross-sectional study included 22 untreated adult patients with type III SMA and 20 healthy subjects. The following variables were assessed: general intelligence, memory, attention, language, executive function, depression, anxiety, and other demographic and clinical parameters. In addition, physical function was evaluated using the Hammersmith Functional Motor Scale Expanded (HFMSE), the Revised Upper Limb Module (RULM), and the 6-Minute Walk Test (6MWT).
ResultsSMA patients had lower scores than healthy subjects in the Verbal Fluency Test, Stroop effect, Total Errors, Perseverative Responses, Perseverative Errors, and Non-perseverative Errors in the Wisconsin Card Sorting Test, showing impaired abilities of SMA patients in executive function. In the Attention Network Test (ANT), the results indicated that the SMA patients also had selective deficits in their executive control networks. Ambulant patients had better executive function test performance than non-ambulant ones. Compromised executive abilities in patients with SMA were correlated with a younger age at onset, poorer motor function, and higher levels of anxiety and depression.
ConclusionOur study presented the distribution of cognitive impairment in a Chinese cohort with SMA. Patients with type III SMA showed selective deficits in executive function, which may be associated with disease severity, physical impairment, depression and anxiety. Future cognitive studies, accounting for motor and emotional impairment, are needed to evaluate if executive impairment is driven by specific brain changes or by those confounding factors.

研究目的：脊髓性肌萎缩症（Spinal Muscular Atrophy, SMA）是一类以脊髓运动神经元退行性病变为特征的神经退行性疾病。目前仍未明确成人脊髓性肌萎缩症患者的认知功能是否存在受损情况。本研究旨在评估中国成人脊髓性肌萎缩症患者的认知特征，以及临床特征与认知能力（尤其是执行功能）之间的关联。
研究方法：本项横断面研究纳入了22名未经治疗的III型脊髓性肌萎缩症成人患者，以及20名健康对照受试者。本次评估涵盖的变量包括：一般智力、记忆、注意、语言、执行功能、抑郁、焦虑，以及其他人口统计学与临床参数。此外，采用汉默史密斯功能运动评定量表扩展版（Hammersmith Functional Motor Scale Expanded, HFMSE）、修订上肢功能模块量表（Revised Upper Limb Module, RULM）以及6分钟步行试验（6-Minute Walk Test, 6MWT）对受试者的运动功能进行评估。
研究结果：脊髓性肌萎缩症患者在言语流畅性测验、斯特鲁普效应、威斯康星卡片分类测验的总错误数、持续反应数、持续错误数以及非持续错误数上的得分均显著低于健康对照者，提示该类患者的执行功能存在受损。在注意网络测验（Attention Network Test, ANT）中，结果显示脊髓性肌萎缩症患者的执行控制网络同样存在选择性缺陷。能够自主行走的患者其执行功能测验表现优于无法行走的患者。脊髓性肌萎缩症患者受损的执行功能与更早的发病年龄、更差的运动功能以及更高水平的焦虑和抑郁症状呈显著相关。
研究结论：本研究明确了中国脊髓性肌萎缩症队列中认知受损的分布特征。III型脊髓性肌萎缩症患者存在执行功能的选择性缺陷，该缺陷可能与疾病严重程度、躯体功能受损以及抑郁、焦虑症状相关。未来的认知研究需纳入运动与情感受损因素，以评估执行功能缺陷究竟是由特定的脑部病变所驱动，还是由上述混杂因素所导致。