在运动功能严重受损的 1 型脊髓性肌萎缩症患者中,纽西奈森可诱导复合运动动作电位反应发生可检测到的变化

IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY
Yuki Ueda , Kiyoshi Egawa , Kentaro Kawamura , Noriki Ochi , Takeru Goto , Shuhei Kimura , Masashi Narugami , Sachiko Nakakubo , Midori Nakajima , Atsushi Manabe , Hideaki Shiraishi
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引用次数: 0

摘要

背景大多数长期受影响的脊髓性肌萎缩症(SMA)1型患者运动功能严重受损,需要依靠气管造口术进行机械通气。方法我们回顾性评估了持续治疗至少 12 个月的 1 型 SMA 患者鞘内注射奴西那生的疗效。有三名患者(分别为 3 岁、4 岁和 16 岁)参加了我们的研究,他们的大运动功能严重受损,没有头部控制能力或翻身能力。这三名患者都需要气管插管机械通气和管饲。运动功能的评估采用费城儿童医院婴儿神经肌肉疾病测试(CHOP-INTEND)和护理人员的评估。同时,我们对神经传导进行了纵向检查,并比较了复合运动动作电位(CMAP)的振幅。虽然CHOP-INTEND评分没有显著增加,但据护理人员称,所有三名患者的手指或面部肌肉运动均有所改善,使他们能够表达自己的意图。结论运动功能的改善可使交流更加顺畅,这可能是继续使用纽西奈森治疗的基础。目前可用的运动功能评分并不能有效评估对医疗护理复杂的 SMA 患者的治疗干预。纵向神经传导研究可作为一项客观指标。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function

Background

Most long-term affected spinal muscular atrophy (SMA) type 1 patients have severe impairment of motor function and are dependent on mechanical ventilation with tracheostomy. The efficacy and safety of nusinersen in these patients have not been established.

Methods

We retrospectively evaluated the efficacy of intrathecal nusinersen treatment in patients with SMA type 1 who continued treatment for at least 12 months. There were three patients enrolled in our study (3, 4 and 16 years of age) who had severe impairment of gross motor function without head control or the ability to roll over. All three needed mechanical ventilation with tracheostomy and tube feeding. Motor function was assessed using the Children s Hospital of Philadelphia infant test of neuromuscular disorders (CHOP-INTEND) and the caregivers’ evaluations. Concurrently, we examined nerve conduction longitudinally and compared compound motor action potential (CMAP) amplitudes.

Results

All patients continued nusinersen administration without significant adverse events for more than three years. While CHOP-INTEND scores did not remarkably increase, according to the caregivers, all three patients had improved finger or facial muscle movements that enabled them to make their intentions understood. Some CMAPs before treatment were not identified but became traces after nusinersen administration.

Conclusions

The improvement in motor function that leads to smoother communication could be a basis for continuing nusinersen treatment. Currently available motor function scorings are not efficient for assessing therapeutic interventions in SMA patients with medical care complexity. Longitudinal nerve conduction studies could be an objective indicator.

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来源期刊
Brain & Development
Brain & Development 医学-临床神经学
CiteScore
3.60
自引率
0.00%
发文量
153
审稿时长
50 days
期刊介绍: Brain and Development (ISSN 0387-7604) is the Official Journal of the Japanese Society of Child Neurology, and is aimed to promote clinical child neurology and developmental neuroscience. The journal is devoted to publishing Review Articles, Full Length Original Papers, Case Reports and Letters to the Editor in the field of Child Neurology and related sciences. Proceedings of meetings, and professional announcements will be published at the Editor''s discretion. Letters concerning articles published in Brain and Development and other relevant issues are also welcome.
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