Department of Neurology, Royal Victoria Hospital, Belfast, UK.
Northern Ireland Centre for Stratified Medicine, Altnagelvin Hospital Campus, Ulster University, Derry, UK.
Eur J Neurol. 2022 Mar;29(3):707-714. doi: 10.1111/ene.15172. Epub 2021 Nov 19.
This study evaluates the incidence, prevalence and survival trends of motor neurone disease (MND) in Northern Ireland from 2015 to 2019.
A capture-recapture analysis was performed using five independent data sources. Incidence and prevalence rates were standardized to the European Standard Population. Survival outcomes were analysed using Kaplan-Meier curves and Cox regression analysis.
Amongst 254 total cases of MND, capture-recapture analysis estimated three missing cases (case ascertainment 98.8%). Age standardized incidence of captured cases was 3.12 per 100,000 (2.73, 3.50) and standardized prevalence ranged from 9.45 to 6.49 per 100,000 from 2015 to 2019. Standardized incidence and prevalence rates in 2006 were 1.4 and 3.3 per 100,000 respectively. Of identified cases, 133 (52.4%) were male; 94.5% had amyotrophic lateral sclerosis; median age of onset was 67 years; median time to diagnosis was 12 months (95% confidence interval 11.2, 12.8); survival from diagnosis was 12 months (95% confidence interval 10.6, 15.4); 25 (9.8%) reported a family history of MND or frontotemporal dementia; and a known MND-associated genetic mutation was identified in 7.9% of total cases, of which the most common was C9orf72 (5.7% of all patients). Factors associated with improved survival were younger age at onset, longer time to diagnosis, attendance at regional MND clinic, and initial neurology presentation as outpatient (all p < 0.001).
The incidence and prevalence of MND in Northern Ireland has increased over the last 10 years, in line with increasing rates reported from other European countries. Improved survival was associated with younger age at onset, longer time to diagnosis, attendance at a regional MND clinic and outpatient presentation to a Neurology Department.
本研究评估了 2015 年至 2019 年期间北爱尔兰运动神经元病（MND）的发病率、患病率和生存趋势。
使用五个独立的数据来源进行捕获-再捕获分析。发病率和患病率均按欧洲标准人口进行标准化。使用 Kaplan-Meier 曲线和 Cox 回归分析来分析生存结果。
在 254 例 MND 总病例中，捕获-再捕获分析估计有 3 例漏诊病例（病例检出率 98.8%）。捕获病例的年龄标准化发病率为 3.12/100,000（2.73，3.50），2015 年至 2019 年期间标准化患病率范围为 9.45/100,000 至 6.49/100,000。2006 年的标准化发病率和患病率分别为 1.4/100,000 和 3.3/100,000。在确定的病例中，133 例（52.4%）为男性；94.5%为肌萎缩侧索硬化症；发病中位年龄为 67 岁；中位诊断时间为 12 个月（95%置信区间 11.2，12.8）；从诊断到死亡的中位生存时间为 12 个月（95%置信区间 10.6，15.4）；25 例（9.8%）报告有 MND 或额颞叶痴呆家族史；在总病例中，7.9%的病例发现了已知的 MND 相关基因突变，其中最常见的是 C9orf72（所有患者的 5.7%）。与生存改善相关的因素包括发病年龄较小、诊断时间较长、参加地区性 MND 诊所以及首次神经内科就诊为门诊（均 p<0.001）。
过去 10 年来，北爱尔兰的 MND 发病率和患病率有所增加，与其他欧洲国家报告的发病率增加一致。生存改善与发病年龄较小、诊断时间较长、参加地区性 MND 诊所以及神经内科门诊就诊有关。
