Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.
Dev Med Child Neurol. 2022 Aug;64(8):979-988. doi: 10.1111/dmcn.15176. Epub 2022 Feb 14.
To correlate the North Star Ambulatory Assessment (NSAA) and timed rise from floor (TRF) recorded at age of expected peak with age at loss of ambulation (LOA) in Duchenne muscular dystrophy (DMD).
Male children with DMD enrolled in the UK North Start Network database were included according to the following criteria: follow-up longer than 3 years, one NSAA record between 6 years and 7 years 6 months (baseline), at least one visit when older than 8 years. Data about corticosteroid treatment, LOA, genotype, NSAA, and TRF were analysed. Age at LOA among the different groups based on NSAA and TRF was determined by log-rank tests. Cox proportional hazard models were used for multivariable analysis.
A total of 293 patients from 13 different centres were included. Mean (SD) age at first and last visit was 5 years 6 months (1 year 2 months) and 12 years 8 months (2 years 11 months) (median follow-up 7 years 4 months). Higher NSAA and lower TRF at baseline were associated with older age at LOA (p<0.001). Patients scoring NSAA 32 to 34 had a probability of 0.61 of being ambulant when older than 13 years compared with 0.34 for those scoring 26 to 31. In multivariable analysis, NSAA, TRF, and corticosteroid daily regimen (vs intermittent) were all independently associated with outcome (p=0.01).
Higher functional abilities at peak are associated with older age at LOA in DMD. This information is important for counselling families. These baseline measures should also be considered when designing clinical trials.
将预期峰值时的北极星门诊评估（NSAA）和从地板上定时起身（TRF）与杜氏肌营养不良症（DMD）中的失能年龄（LOA）相关联。
根据以下标准，纳入英国北极星网络数据库中患有 DMD 的男性儿童：随访时间超过 3 年，6 岁至 7 岁 6 个月之间有一次 NSAA 记录（基线），年龄大于 8 岁时有至少一次就诊。分析有关皮质类固醇治疗、LOA、基因型、NSAA 和 TRF 的数据。根据 NSAA 和 TRF 将不同组的 LOA 年龄通过对数秩检验确定。使用 Cox 比例风险模型进行多变量分析。
共纳入来自 13 个不同中心的 293 名患者。首次和末次就诊的平均（SD）年龄分别为 5 岁 6 个月（1 岁 2 个月）和 12 岁 8 个月（2 岁 11 个月）（中位数随访时间 7 岁 4 个月）。基线时较高的 NSAA 和较低的 TRF 与 LOA 年龄较大相关（p<0.001）。NSAA 评分为 32 至 34 的患者在年龄大于 13 岁时具有 0.61 的可能性保持独立行走，而 NSAA 评分为 26 至 31 的患者为 0.34。在多变量分析中，NSAA、TRF 和皮质类固醇每日方案（与间歇性方案相比）均与结局独立相关（p=0.01）。
在 DMD 中，峰值时更高的功能能力与 LOA 年龄较大相关。此信息对咨询家庭很重要。在设计临床试验时，还应考虑这些基线测量。
