Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
J Neuromuscul Dis. 2021;8(4):453-456. doi: 10.3233/JND-210640.
Over the last few years there has been increasing attention to detect early signs of impairment in young Duchenne muscular dystrophy boys but less has been reported on whether the delay may also affect the very early aspects of motor development, such as gross motor milestones.
The aim of this study was to retrospectively assess the age when early motor milestones were achieved in Duchenne muscular dystrophy.
The study is a retrospective analysis of data collected as part of a larger natural history project. Information on past medical history, collected at the time the boys were seen for the first time, were recorded and re available on clinical notes and on electronic CRF.
Data were collected in 134 DMD boys. Sitting was achieved at 7.04 months. The % of DMD boys not achieving sitting by 9.4 months was 10%, ranging from 2% in the boys with mutations before exon 44 to 33% in those beyond exon 63. Walking was achieved at a mean age of 16.35 months. The % of DMD boys not achieving independent walking by 18 months was 17%, ranging from 9% in the boys with mutations between 44 and 51 to 42% in those beyond exon 63.
Our results showed that the risk of a delay in sitting and walking was increasingly high in patients with mutations predictive of the involvement of different brain dystrophin isoforms.
在过去的几年中，人们越来越关注早期发现患有杜兴氏肌营养不良症的年轻男孩的受损迹象，但关于这种延迟是否也会影响运动发育的早期阶段，例如粗大运动里程碑，报道较少。
本研究旨在回顾性评估杜兴氏肌营养不良症患儿早期运动里程碑的达成年龄。
本研究是对作为更大自然史项目一部分收集的数据进行的回顾性分析。在男孩首次就诊时收集的病史信息记录在临床病历和电子 CRF 中，可供查阅。
共收集了 134 名 DMD 男孩的数据。独坐的年龄为 7.04 个月。9.4 个月时仍无法独坐的 DMD 男孩比例为 10%，从 exon 44 之前突变的男孩的 2%到 exon 63 之后突变的男孩的 33%不等。独立行走的平均年龄为 16.35 个月。18 个月时仍无法独立行走的 DMD 男孩比例为 17%，从 exon 44 和 51 之间突变的男孩的 9%到 exon 63 之后突变的男孩的 42%不等。
我们的结果表明，预测不同脑型肌营养不良蛋白异构体参与的突变患者，其坐姿和行走延迟的风险越来越高。
