新西兰奥特罗瓦地区脊髓性肌萎缩症流行病学研究。

IF 3.2 4区 医学 Q2 CLINICAL NEUROLOGY
Richard H Roxburgh, Alana Cavadino, Miriam Rodrigues, Sharron Meadows, Juliette Meyer, Gina O'Grady
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引用次数: 0

摘要

背景:脊髓性肌萎缩症(SMA)的三种有效的疾病修饰疗法的出现突出了了解脊髓性肌萎缩症(SMA)的流行病学及其对残疾的影响的必要性。目的:了解新西兰奥特罗瓦地区SMA的全国发病率和患病率,评估患者的残疾状况及其对卫生资源利用的影响。方法:我们使用多种来源来识别SMA患者,并通过回顾患者个人笔记和遗传结果来验证诊断,残疾和资源利用。4年发病期为2015年7月1日至2019年6月30日。发病日期为2019年3月1日。值得注意的是,这一时期早于新西兰获得疾病治疗的时间。分母使用2018年的人口普查数据。采用描述性统计和捕获-再捕获法对数据进行分析。作为背景,我们回顾了国际SMA流行病学。结果:每10万活产的发病率为8.0(95%可信区间(CI): 4.8-12.5)。2019年3月1日SMA的标准化患病率为1.78 / 10万(95% CI: 1.24, 2.33)。患病率显著低于Māori,为0.34 (95% CI: 0.08, 1.13;p = 0.006)。与最佳运动里程碑性能相比,出现了大幅下降;7例SMA1患者在没有获得疾病改善治疗的情况下死亡。整个队列中有74%的人使用轮椅。23%需要呼吸支持。62%患有脊柱侧凸,其中61%做过手术。存活的SMA1患者的医疗服务利用率非常高。结论:发病率和患病率数据与国际研究结果非常吻合。这是Māori首次记录低SMA率。虽然最大的疾病负担落在SMA1和2患者身上,但SMA3和SMA4患者仍然大量使用卫生资源。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Epidemiology of spinal muscular atrophy in Aotearoa-New Zealand.

Background: The advent of three effective disease modifying therapies for SMA has highlighted the need to understand the epidemiology of spinal muscular atrophy (SMA) and its disability impact.

Objective: We aimed to establish the nationwide incidence and prevalence of SMA in Aotearoa-New Zealand, and to estimate the patients' disability and the impact of this on health resource utilisation.

Methods: We used multiple sources to identify patients with SMA and verified the diagnosis, disabilities and resources utilisation by review of the individual patient notes and genetic results. The four year incidence period was from 1st July 2015 to 30th June 2019. Prevalence date was 1st March 2019. Of note, this time period pre-dated access to disease modifying therapy in New Zealand. Census data for 2018 was used for denominators. Descriptive statistics and capture-recapture were used to analyse the data. For context, we reviewed international SMA epidemiology.

Results: The incidence per 100,000 live births was 8.0 (95% confidence interval (CI): 4.8-12.5). The standardised prevalence rate of SMA on 1st March 2019 was 1.78 per 100,000 (95% CI: 1.24, 2.33). Prevalence was significantly lower amongst Māori at 0.34 (95% CI: 0.08, 1.13; p = 0.006). Substantial decline from best motor milestone performance was seen; seven patients with SMA1 died without access to disease modifying therapy. 74% of the total cohort used wheelchairs. 23% required respiratory support. 62% had scoliosis, of whom 61% had had surgery. Surviving SMA1 patients had very high health service utilisation.

Conclusions: Incidence and prevalence figures match closely with international studies. This is the first record of low SMA rates in Māori. While the largest burden of disease falls on patients with SMA1 and 2 there is still substantial use of health resources among SMA3 and SMA4 patients.

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来源期刊
Journal of neuromuscular diseases
Journal of neuromuscular diseases Medicine-Neurology (clinical)
CiteScore
5.10
自引率
6.10%
发文量
102
期刊介绍: The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.
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