Department of Neurosciences (Padova Neuroscience Center), University of Padova, Italy.
Department of Neurosciences (Padova Neuroscience Center), University of Padova, Italy.
Neuromuscul Disord. 2022 Aug;32(8):672-677. doi: 10.1016/j.nmd.2022.05.005. Epub 2022 May 11.
Cognitive abilities are often affected in progressive neurodegenerative disorders, but there is a lack of understanding about whether spinal muscular atrophy (SMA) patients experience cognitive deficits and, if so, whether they are associated with clinical factors. A sample of 22 type III SMA patients and 22 healthy controls completed a comprehensive neuropsychological battery, including tests in memory, executive function, language, visuospatial, and global cognitive functioning. Clinical severity was assessed using the Hammersmith Functional Motor Scale, the Revised Upper Limb Module and the Six Minute Walk Test. SMA patients showed poorer performance in visuospatial abilities, executive functions and language as compared to healthy controls. In the SMA sample, patients with greater motor difficulties had lower performance in attention, but higher performance in measures of language, verbal fluency, and memory. In men, but not women, cognitive test performance was associated with motor functioning. Our findings showing cognitive changes in SMA type III may reflect the presence of intrinsic brain pathology and cognitive adaptation mechanisms following physical dysfunction, which may be mediated by other factors, such as sex.
认知能力在进行性神经退行性疾病中经常受到影响，但人们对于脊髓性肌萎缩症（SMA）患者是否存在认知缺陷，以及如果存在，这些缺陷是否与临床因素相关，仍缺乏了解。我们选取了 22 名 III 型 SMA 患者和 22 名健康对照者完成了一项全面的神经心理学测试，包括记忆、执行功能、语言、视空间和整体认知功能的测试。临床严重程度使用 Hammersmith 功能运动量表、修订后的上肢模块和 6 分钟步行测试进行评估。与健康对照组相比，SMA 患者在视空间能力、执行功能和语言方面的表现更差。在 SMA 样本中，运动困难较大的患者在注意力方面的表现较差，但在语言、语言流畅性和记忆方面的表现较好。在男性中，但在女性中，认知测试表现与运动功能相关。我们的研究结果表明，III 型 SMA 患者存在认知变化，这可能反映了大脑内在病理的存在以及身体功能障碍后的认知适应机制，而这些机制可能受到其他因素的影响，如性别。
