From the Neuroimmunology Program (C.G., L.S., A.I., J.S., J.O.D., F.G.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS); Department of Neurology (C.G., A.I., J.S., J.O.D.), and Sleep Disorders Center (C.G., A.I., J.S.), Hospital Clinic, Barcelona, Spain; Department of Neurology (T.G., I.A.), St. Josef Hospital, Ruhr University Bochum; Department Neurology (A.H.), Division of Sleep Medicine and Neuromuscular Disorders, University Hospital Muenster, Germany; Department of Neurology (A.H.), Medical University of Innsbruck; Department of Neurology (A.H.), Kepler Universitätsklinikum, Linz, Austria; Neuroimmunology (F.L.), Institute of Clinical Chemistry and Department of Neurology, University Hospital Schleswig-Holstein and Kiel University, Germany; and Institució Catalana de Recerca i Estudis Avançats (ICREA) (J.O.D.), Barcelona, Spain.
Neurology. 2024 Apr 9;102(7):e208101. doi: 10.1212/WNL.0000000000208101. Epub 2024 Mar 8.
To develop a composite score to assess the severity of the multiple symptoms present in anti-IgLON5 disease.
The anti-IgLON5 disease composite score (ICS) was designed to evaluate 17 symptoms divided into 5 clinical domains (bulbar, sleep, movement disorders, cognition, and others). Each symptom was scored from 0 (absent/normal) to 3 or 6 (severe) depending on the contribution of the symptom to neurologic disability with a maximum ICS of 69. The ICS was tested in patients from 2 cohorts (Barcelona, Spain, and GENERATE, Germany) that included cases personally seen by the authors (internal) and patients whose ICS was obtained from information of questionnaires completed by the referring neurologists (external). Test-retest and interrater reliabilities of the ICS were assessed by the intraclass coefficient (ICC) and the correlation between the ICS and modified Rankin scale (mRS) with the nonparametric Spearman rank coefficient. The Wilcoxon signed rank test was used to compare the ICS at diagnosis of anti-IgLON5 disease and follow-up in a subset of patients with available clinical information.
A total of 86 patients (46 from Barcelona cohort; 40 from GENERATE cohort) were included. The median ICS was 15 (range 2-31). The ICS was higher in the Barcelona cohort than in the German cohort (18 vs 12, < 0.001), due to higher partial scores in sleep and movement disorder domains. There were no significant differences in the ICS between internal and external patients (15 vs 14, = 0.96). The ICS correlated with the mRS score ( = 0.429, < 0.001). Test-retest and interrater reliabilities were excellent with an ICC of 0.997 (95% CI 0.992-0.999) and 0.973 (95% CI 0.925-0.990), respectively. ICS was retested during follow-up in 27 patients, and it was similar to that at diagnosis in 10 clinically stable patients (median ICS at diagnosis 11.5 vs 11.5 at follow-up; = 1), higher in 8 patients who worsened (12.5 vs 18; = 0.012), and lower in 9 patients who improved after immunotherapy (14 vs 10; = 0.007).
The ICS is a valid method to assess the extension and severity of the different clinical manifestations of anti-IgLON5 disease.
为了评估抗 IgLON5 病中存在的多种症状的严重程度，开发了一种综合评分。
抗 IgLON5 病综合评分（ICS）旨在评估 17 种症状，分为 5 个临床领域（球部、睡眠、运动障碍、认知和其他）。根据症状对神经功能障碍的影响程度，每个症状的评分范围为 0（无/正常）至 3 或 6（严重），ICS 的最高评分为 69。ICS 在 2 个队列（西班牙巴塞罗那和德国 GENERATE）的患者中进行了测试，包括作者亲自观察到的病例（内部）和通过参考神经科医生完成的问卷获得 ICS 的患者（外部）。通过内类系数（ICC）和 ICS 与改良 Rankin 量表（mRS）之间的非参数 Spearman 秩系数评估 ICS 的测试-再测试和组内可靠性。使用 Wilcoxon 符号秩检验比较有可用临床信息的患者子集的抗 IgLON5 病诊断时和随访时的 ICS。
共纳入 86 例患者（巴塞罗那队列 46 例；GENERATE 队列 40 例）。ICS 的中位数为 15（范围 2-31）。巴塞罗那队列的 ICS 高于德国队列（18 对 12，<0.001），这是由于睡眠和运动障碍领域的部分评分较高。内部和外部患者的 ICS 无显著差异（15 对 14，=0.96）。ICS 与 mRS 评分相关（=0.429，<0.001）。测试-再测试和组内可靠性非常好，ICC 分别为 0.997（95%CI 0.992-0.999）和 0.973（95%CI 0.925-0.990）。27 例患者在随访期间重新测试了 ICS，在 10 例临床稳定的患者中，其与诊断时相似（诊断时 ICS 中位数为 11.5，随访时为 11.5；=1），在 8 例病情恶化的患者中升高（12.5 对 18；=0.012），在 9 例免疫治疗后改善的患者中降低（14 对 10；=0.007）。
ICS 是评估抗 IgLON5 病不同临床表现的范围和严重程度的有效方法。
