Department of Medical, Surgery and Neurological Sciences, University of Siena, Neurology and Clinical Neurophysiology Unit, Siena, Italy.
Department of Mental Health and Sensory Organs, UOSA Psychology, Siena, Italy.
Clin Neurol Neurosurg. 2024 Oct;245:108499. doi: 10.1016/j.clineuro.2024.108499. Epub 2024 Aug 6.
Edinburgh Cognitive and Behavioral ALS Screen (ECAS) is a validated assessment designed to screen cognitive functions and behavioral disorders in amyotrophic lateral sclerosis (ALS). Objective of this study is to determine the factors associated with ECAS impairment in a cohort of ALS patients without a co-morbid diagnosis of dementia, at the time of diagnosis.
We enrolled 71 non-demented ALS patient. We collected clinical and demographic data, ALS familiarity, analysis of the most commonly mutated genes in ALS, ALS Milano Torino Staging System and ALS Functional Rate Scale revised scores, progression rate; finally, we recorded whether symptoms onset involved spinal or bulbar area. The alteration of the ECAS was estimated based on age and education-adjusted-validated cut off for each of the items included in ECAS. A multivariable regression analysis was done.
The significant determinants of ECAS alterations were: bulbar onset in both ALS-specific test and total ECAS score; bulbar onset and familiarity in ALS-non-specific test; finally, familiarity and diagnosis delay in ALS-behavioral test. All the subjects carrying C9orf72 mutations had alteration of both total ECAS score and ALS-specific tests.
At diagnosis, bulbar-onset ALS, family history, diagnosis delay and C9orf72 hexanucleotide repeat expansion may contribute to impairment of ECAS.
爱丁堡认知与行为肌萎缩侧索硬化症筛查（ECAS）是一种经过验证的评估工具，旨在筛查肌萎缩侧索硬化症（ALS）患者的认知功能和行为障碍。本研究的目的是确定在无合并痴呆诊断的 ALS 患者队列中，与 ECAS 损伤相关的因素，这些患者在诊断时无认知功能障碍。
我们纳入了 71 例非痴呆性 ALS 患者。我们收集了临床和人口统计学数据、ALS 熟悉度、分析 ALS 中最常见突变基因、ALS 米兰-都灵分期系统和 ALS 功能评定量表修订版评分、进展率；最后，我们记录了症状起始部位是脊髓还是延髓。ECAS 的改变基于每个包含在 ECAS 中的项目的年龄和教育调整验证的截止值来估计。进行了多变量回归分析。
ECAS 改变的显著决定因素为：在 ALS 特异性测试和总 ECAS 评分中，延髓起病；在 ALS 非特异性测试中，延髓起病和熟悉度；最后，熟悉度和诊断延迟在 ALS 行为测试中。所有携带 C9orf72 突变的患者均出现总 ECAS 评分和 ALS 特异性测试的改变。
在诊断时，延髓起病的 ALS、家族史、诊断延迟和 C9orf72 六核苷酸重复扩展可能导致 ECAS 损伤。
