婴儿和幼男患有杜申肌力发育不良症的总运动延迟
Linda P Lowes1,2, Natalie F Reash1, Megan A Iammarino1
1Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Journal of neuromuscular diseases
|February 20, 2025
概括
新生儿对杜恩肌肉缩症 (DMD) 的查将增加诊断. 患有DMD的婴儿从婴儿时期就表现出普遍的毛发动机延迟,随着时间的推移而持续.
科学领域:
- 神经学 神经学
- 儿科 儿科 儿科
- 遗传学 是一个遗传学.
背景情况:
- 杜氏肌肉发育不良 (DMD) 是一种X系的神经退行性疾病.
- 针对DMD的全民新生儿查正在美国实施.
- 关于患有DMD的婴儿早期毛细运动技能的数据有限.
研究的目的:
- 描述被诊断患有DMD的男孩早期的总运动技能.
- 为了在这个人群中建立早期运动发育的基线.
主要方法:
- 评估了90名患有DMD的男孩 (年龄2个月-5岁10个月) 从2016-2024.
- 在标准护理访问期间使用贝利婴幼儿发展尺度,第三版 (Bayley-III).
- 进行了129次评估,包括47名男孩的纵向随访.
主要成果:
- 在患有DMD的男孩中,94%的男孩与规范数据相比,表现出总体运动技能延迟.
- 没有患者达到贝利-III的天花板,即使年龄大于测试的预期年龄范围.
- 在整个研究年龄段观察到延迟.
结论:
- 总运动延迟在患有DMD的婴儿和幼儿中几乎是普遍存在的.
- 这些运动技能的缺陷似乎不会随着时间的推移而在幼儿时代减少.
- 早期识别和干预对于管理DMD至关重要.
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