a Medical Area Department , University of Udine , Udine , Italy.
b Department of Medical, Surgical and Health Sciences, Neurology Clinic , Azienda Sanitaria Universitaria Integrata di Trieste , Trieste , Italy.
Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):176-185. doi: 10.1080/21678421.2018.1550517. Epub 2019 Jan 18.
: To characterize the timing and pathway of amyotrophic lateral sclerosis (ALS) diagnosis and to identify predictors of delayed diagnosis in a retrospective cohort. : The cohort included all patients with incident ALS between 2010 and 2014 in Friuli-Venezia Giulia (FVG) region, Italy, admitted to two University Hospitals. Information on demographics, clinical presentation, and healthcare use was obtained from health databases and electronic medical records (EMRs). Total diagnostic time (TDT), the interval between ALS symptoms onset and diagnosis, was compared between patient groups through Wilcoxon-Mann-Whitney test. The adjusted odds ratio (aOR), with 95% confidence interval (95% CI), of having a TDT ≥12 months was estimated using unconditional logistic regression. : Among 134 patients, median TDT (interquartile range [IQR]) was 11.5 months (7.1-18.3), shorter in those aged <60 years vs. ≥60 years (8.1; 5.1-11.1 vs. 12.4; 7.4-21.5; = 0.0064), first referred to a neurologist vs. other specialist (10.2; 6.1-16.3 vs. 13.2; 8.1-24.5; = 0.0386) and without neurologic comorbidities (11.1; 7.1-16.5 vs. 19.7; 8.8-33.7; = 0.0243). TDT was ≥12 months in 64 (48.5%) patients and was predicted by male sex (aOR: 2.47; 95% CI: 1.06-5.75), age at onset ≥60 years (11.46; 3.13-41.9), spinal onset (2.04; 1.00-5.93), and prior therapies or first referral to a non-neurologist (3.15; 1.36-7.29). : In this cohort, delayed diagnosis was common, particularly in older patients and in those with neurological comorbidities. Timely referral to a neurologist may improve diagnostic timing.
在回顾性队列研究中，描述肌萎缩侧索硬化症（ALS）的诊断时间和途径，并确定诊断延迟的预测因素。
该队列纳入了 2010 年至 2014 年期间意大利弗留利-威尼斯朱利亚（FVG）地区两家大学医院收治的所有新发 ALS 患者。从健康数据库和电子病历（EMR）中获取人口统计学、临床表现和医疗保健使用信息。通过 Wilcoxon-Mann-Whitney 检验比较不同患者组的总诊断时间（TDT），即 ALS 症状发作与诊断之间的间隔。使用非条件逻辑回归估计 TDT≥12 个月的调整优势比（aOR）及其 95%置信区间（95%CI）。
在 134 名患者中，中位 TDT（四分位距 [IQR]）为 11.5 个月（7.1-18.3），年龄<60 岁者较≥60 岁者更短（8.1；5.1-11.1 比 12.4；7.4-21.5；=0.0064），首次就诊于神经科医生者较其他专科医生更短（10.2；6.1-16.3 比 13.2；8.1-24.5；=0.0386），且无神经系统合并症者更短（11.1；7.1-16.5 比 19.7；8.8-33.7；=0.0243）。64 名（48.5%）患者的 TDT≥12 个月，其预测因素为男性（aOR：2.47；95%CI：1.06-5.75）、发病年龄≥60 岁（11.46；3.13-41.9）、脊髓起病（2.04；1.00-5.93）以及先前的治疗或首次就诊于非神经科医生（3.15；1.36-7.29）。
在该队列中，诊断延迟较为常见，尤其是在老年患者和有神经系统合并症的患者中。及时转至神经科医生处就诊可能会改善诊断时间。
