Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Associazione "La Nostra Famiglia" - IRCCS "E. Medea", Scientific Hospital for Neurorehabilitation, Brindisi, Italy.
Scientific Institute IRCCS "E. Medea", Scientific Direction, Via Don L. Monza 20, 23842, Bosisio Parini (LC), Italy.
Neurol Sci. 2024 Aug;45(8):3699-3710. doi: 10.1007/s10072-024-07503-x. Epub 2024 Apr 6.
The cognitive functioning of individuals with spinal muscular atrophy (SMA) is not well understood, prompting a call for more research to better grasp cognitive involvement in SMA. This study aims to explore recent findings regarding cognitive outcomes in SMA patients, including correlations between clinical features and cognitive abilities. The investigation seeks to identify commonly used measures for assessing cognitive function in this patient population. A scoping review following the Joanna Briggs Institute methodology examined literature until December 2023. Two databases were searched along with relevant article references using specific terms such as "spinal muscular atrophy," "SMA," "cognitive," "abilities," "functions," "intellective," or "intellectual." Screening focused on titles and abstracts from English language peer-reviewed journals. After the initial research, 1452 articles were identified. Subsequent screening and selection led to the inclusion of 13 articles in the review. Among these studies, four indicated a cognitive trend within the normal range for SMA patients. In four other studies, the majority of patients fell within the normal range. However, smaller proportions were observed to be either above or below the norm compared to the controls. Three studies reported noted cognitive performance below the average, while two showed above-average scores. The scoping review suggests that most SMA patients have cognitive abilities similar to the general population, with types II and III showing even lesser impact. However, certain cognitive domains may be affected in type I patients, highlighting the need for further research to fully understand cognitive involvement in SMA.
脊髓性肌萎缩症（SMA）患者的认知功能尚未得到充分理解，因此需要更多的研究来更好地掌握 SMA 患者的认知功能。本研究旨在探讨 SMA 患者认知结果的最新发现，包括临床特征与认知能力之间的相关性。该研究旨在确定用于评估该患者人群认知功能的常用测量方法。本研究采用 Joanna Briggs 研究所方法进行范围综述，检索了截至 2023 年 12 月的文献。通过特定术语（如“脊髓性肌萎缩症”、“SMA”、“认知”、“能力”、“功能”、“智力”或“智力”），在两个数据库中搜索并结合相关文章参考文献。筛选侧重于英语同行评议期刊的标题和摘要。初步研究后，共确定了 1452 篇文章。随后的筛选和选择导致 13 篇文章被纳入综述。在这些研究中，有 4 项研究表明 SMA 患者的认知趋势处于正常范围内。在另外 4 项研究中，大多数患者的认知能力处于正常范围内。然而，与对照组相比，较小比例的患者的认知能力高于或低于正常值。有 3 项研究报告认知表现低于平均水平，而 2 项研究显示得分高于平均水平。范围综述表明，大多数 SMA 患者的认知能力与普通人群相似，II 型和 III 型的影响更小。然而，某些认知领域可能会受到 I 型患者的影响，这突出表明需要进一步研究以充分了解 SMA 患者的认知功能。
