The changing natural history of spinal muscular atrophy type 1
The changing natural history of spinal muscular atrophy type 1
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DOI：
10.1212/01.wnl.0000290830.40544.b9
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发表时间：
2007-11-13
期刊：
影响因子：
9.9
通讯作者：
Kaufmann, P.
中科院分区：
文献类型：
--
作者：
Oskoui, M.;Levy, G.;Kaufmann, P.
背景：自 20 世纪 90 年代初以来，无创通气越来越多地适用于脊髓性肌萎缩症 (SMA) 患者。预计这将改善 1 型 SMA 患者的生存率。 目的：评估 1980 年至 2006 年间 1 型 SMA 患者的生存率是否发生变化。 方法：我们使用来自国际脊髓性肌萎缩症患者登记处参与者的去识别化、家庭报告的数据，并通过邮寄问卷获得了额外的临床信息。 143 名 SMA 1 型患者被纳入分析中。采用 Kaplan-Meier 方法和 Cox 比例风险模型，以死亡年龄为结果，将 1995-2006 年出生的患者 (n = 78) 与 1980-1994 年出生的患者 (n = 65) 的生存率进行比较。结果：与 1980-1994 年出生的患者相比，1995 年至 2006 年出生的患者生存率显着增加（对数秩检验，p = 0.001）。在 Cox 模型中，平均随访 49.9 个月（SD 61.1，中位数 22.0），1995-2006 年出生的患者与 1980-1994 年出生的患者相比，死亡风险降低了 70%（风险比 [HR] 0.3，95% Cl 0.2-0.5，p < 0.001）。然而，在控制人口和临床护理变量时，出生年份与死亡年龄不再显着相关（HR 1.0，95% Cl 0.6-1.8，p = 0.9），而通气时间超过 16 小时/天、使用机械吹气-吹气装置和胃造口管喂养在降低死亡风险方面显示出显着效果。 结论：1 型脊髓性肌萎缩症患者的生存率有所增加近年来，随着更加积极主动的临床护理的不断增长的趋势。
Background: Noninvasive ventilation has become increasingly available to spinal muscular atrophy (SMA) patients since the early 1990s. This is expected to have improved survival for SMA type 1 patients.Objective: To assess whether there has been a change in survival in patients with SMA type 1 between 1980 and 2006.Methods: We used deidentified, family- reported data from participants in the International Spinal Muscular Atrophy Patient Registry and obtained additional clinical information through a mail- in questionnaire. One hundred forty- three patients with SMA type 1 were included in the analysis. Survival of patients born in 1995-2006 (n = 78) was compared with that of patients born in 1980-1994 (n = 65), using the Kaplan-Meier method and Cox proportional hazards models with age at death as the outcome.Results: Patients born in 1995 though 2006 had significantly increased survival compared with those born in 1980-1994 (log- rank test, p = 0.001). In a Cox model, patients born in 1995 2006 had a 70% reduction in the risk of death compared with those born in 1980-1994 (hazard ratio [HR] 0.3, 95% Cl 0.2-0.5, p < 0.001) over a mean follow- up of 49.9 months (SD 61.1, median 22.0). However, when controlling for demographic and clinical care variables, year of birth was no longer significantly associated with age at death (HR 1.0, 95% Cl 0.6-1.8, p = 0.9), whereas ventilation for more than 16 h/d, use of a mechanical insufflation-exsufflation device, and gastrostomy tube feeding showed a significant effect in reducing the risk of death.Conclusion: Survival in spinal muscular atrophy type 1 patients has increased in recent years, in relation to the growing trend toward more proactive clinical care.