{"title":"肌萎缩侧索硬化症患者诊断时爱丁堡认知和行为 ALS 筛选(ECAS)改变的相关因素","authors":"","doi":"10.1016/j.clineuro.2024.108499","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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 <em>C9orf72</em> mutations had alteration of both total ECAS score and ALS-specific tests.</p></div><div><h3>Discussion</h3><p>At diagnosis, bulbar-onset ALS, family history, diagnosis delay and <em>C9orf72</em> hexanucleotide repeat expansion may contribute to impairment of ECAS.</p></div>","PeriodicalId":10385,"journal":{"name":"Clinical Neurology and Neurosurgery","volume":null,"pages":null},"PeriodicalIF":1.8000,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Factors associated with Edinburgh Cognitive and Behavioural ALS Screen (ECAS) alteration at time of diagnosis, in amyotrophic lateral sclerosis\",\"authors\":\"\",\"doi\":\"10.1016/j.clineuro.2024.108499\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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 <em>C9orf72</em> mutations had alteration of both total ECAS score and ALS-specific tests.</p></div><div><h3>Discussion</h3><p>At diagnosis, bulbar-onset ALS, family history, diagnosis delay and <em>C9orf72</em> hexanucleotide repeat expansion may contribute to impairment of ECAS.</p></div>\",\"PeriodicalId\":10385,\"journal\":{\"name\":\"Clinical Neurology and Neurosurgery\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2024-08-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Neurology and Neurosurgery\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S030384672400386X\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Neurology and Neurosurgery","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S030384672400386X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
摘要
背景爱丁堡认知和行为ALS筛查(ECAS)是一项经过验证的评估,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一组未合并痴呆诊断的 ALS 患者在确诊时与 ECAS 损伤相关的因素。我们收集了临床和人口统计学数据、ALS 熟悉程度、ALS 最常见突变基因分析、ALS 米兰都灵分期系统和 ALS 功能率量表修订版评分、病情进展率;最后,我们记录了发病症状涉及脊柱还是球部。根据年龄和受教育程度调整的 ECAS 各项目的验证截止值,估算了 ECAS 的变化情况。结果ECAS变化的重要决定因素是:在ALS特异性测试和ECAS总分中,球部发病;在ALS非特异性测试中,球部发病和熟悉程度;最后,在ALS行为测试中,熟悉程度和诊断延迟。所有携带C9orf72突变的受试者在ECAS总分和ALS特异性测试中均有改变。
Factors associated with Edinburgh Cognitive and Behavioural ALS Screen (ECAS) alteration at time of diagnosis, in amyotrophic lateral sclerosis
Background
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.
Methods
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.
Results
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.
Discussion
At diagnosis, bulbar-onset ALS, family history, diagnosis delay and C9orf72 hexanucleotide repeat expansion may contribute to impairment of ECAS.
期刊介绍:
Clinical Neurology and Neurosurgery is devoted to publishing papers and reports on the clinical aspects of neurology and neurosurgery. It is an international forum for papers of high scientific standard that are of interest to Neurologists and Neurosurgeons world-wide.