在接受前症状和症状治疗的婴儿之间,疾病修饰治疗的吞疗效的差异
Katlyn Elizabeth McGrattan1, Alicia Hofelich Mohr2, Anna Miles3
1University of Minnesota, Minneapolis, USA. kmcgratt@umn.edu.
Orphanet journal of rare diseases
|October 22, 2025
概括
脊椎肌肉缩 (SMA) 的早期治疗导致更好的吞功能. 在症状出现之前接受治疗的婴儿,与症状出现后接受治疗的婴儿相比,吞障碍显著减少.
科学领域:
- 神经学 神经学
- 儿科 儿科 儿科
- 胃肠病学 胃肠病学
背景情况:
- 脊髓肌肉缩 (SMA) 是一种遗传性疾病,导致运动神经元逐渐退化.
- 新兴的SMA治疗方法可以阻止神经肌肉退化,改善生存和运动功能.
- 治疗时间对SMA婴儿吞功能的影响尚不清楚.
研究的目的:
- 评估前症状与症状治疗对患有SMA的婴儿吞生物力学和功能的影响.
- 为了比较接受早期 (预症状) 和延迟 (症状) 疾病修饰治疗的婴儿之间的吞结果.
主要方法:
- 在13个国际儿童医院接受治疗的69名婴儿的吞研究的回顾性分析.
- 视频光镜吞研究 (VFSS) 用BabyVFSSImP©和Swallowtail分析了生物力学测量.
- 包括口服摄入量和分泌管理在内的功能性结果通过图表审查进行了评估.
主要成果:
- 在症状前治疗的婴儿很少有严重的吞生物机械障碍.
- 在症状出现后接受治疗的婴儿通常在关键领域表现出明显更差的吞生物力学.
- 虽然大多数在症状前接受治疗的婴儿可以口服分泌和营养,但有些人仍然有功能障碍.
结论:
- 对SMA的预症状治疗与典型的良好吞结果和最小的生物力学缺陷有关.
- 喉生物机械缺陷在症状发作后接受治疗的婴儿中更为普遍,这表明亚临床神经损伤.
- 在 SMA 早期干预对于优化吞功能和整体口腔健康至关重要.
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