发育迟缓可以在早期发病的元染色性白血病衰变中先发生神经学回归
Laura Ann Adang1, Samuel Groeschel2, Chloe Grzyb3
1The Children's Hospital of Philadelphia, Neurology, Philadelphia, PA, USA.
Molecular genetics and metabolism
|July 4, 2024
概括
早期发育迟缓在患有婴儿晚期甲基色白血病 (LI-MLD) 的儿童中出现退行. 监测这些延迟可以使这种罕见的神经退行性疾病的早期诊断和治疗成为可能.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 甲色性白血病 (MLD) 是一种罕见的神经退行性疾病.
- 新兴的MLD疗法在症状前阶段最有效.
- 确定神经系统疾病的发病时间对于及时的治疗干预至关重要.
研究的目的:
- 为了确定早期发育迟缓是否在患有晚期婴儿MLD (LI-MLD) 的儿童发育平原或回归之前.
- 建立在LI-MLD中进行症状前干预的窗口.
- 在LI-MLD中识别神经功能障碍的早期指标.
主要方法:
- 从351名MLD受试者的国际队列中回顾性分析病历,其中194名患有LI-MLD.
- 里程碑获取的特征是目标,延迟或平稳.
- 回归的定义是失去了年龄技能;LI-MLD被定义为在2.5岁之前的发病.
主要成果:
- 在LI-MLD队列 (n=194) 中,39%的患者在临床表现之前表现出发育延迟或平原.
- 在随访的LI-MLD患者中 (n=187),39%从未实现独立行走.
- 从第一个错过的里程碑到MLD下降的中位时间在LI-MLD+延迟子组中为0.60年.
结论:
- 早期发育迟缓在LI-MLD患者的一个子集的回归之前发生,这表明神经功能障碍的发病时间比以前认识的更早.
- 现实世界的数据揭示了诊断前与典型发展的早期偏差.
- 密切监测预症状个体的早期发育迟缓对于LI-MLD早期诊断和治疗决策至关重要.
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