与遗传神经发育障碍相关的运动现象
Alexandra Santana Almansa1,2, LeeAnne Green Snyder3, Wendy K Chung4
1Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Annals of clinical and translational neurology
|November 2, 2024
概括
遗传神经发育障碍 (NDD) 通常涉及运动障碍. 这项研究对959名患有57种遗传性NDD的患者的运动表型进行了表征,揭示了包括延迟里程碑和音调异常在内的各种挑战.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
背景情况:
- 单一性障碍越来越多地与神经发育障碍 (NDD) 相关,例如自闭症谱系障碍和智力障碍.
- 运动障碍在遗传性NDD中很常见,但没有得到很好的定义.
- 鉴别运动现象型对于理解和管理这些疾病至关重要.
研究的目的:
- 调查和描述具有遗传神经发育障碍的个体的运动表型.
- 确定与各种导致NDDs的遗传疾病相关的特定运动缺陷.
主要方法:
- 对来自西蒙斯搜索灯的数据进行分析,包括57种遗传疾病的959名患者.
- 使用的Vineland适应性行为量表第二版 (Vineland-II) 运动标准分数.
- 检查了运动里程碑 (坐着,走路) 和音调异常 (低压,高压,脑).
主要成果:
- 在GRIN2B,HNRNPH2和SCN2A相关疾病中观察到显著的运动障碍 (Vineland-II <56).
- 在GRIN1相关疾病 (平均26.3个月) 中观察到延迟无支的坐姿 (≥18个月).
- 在CTNNB1 (37.4个月) 和HNRNPH2 (41.9个月) 疾病中观察到延迟独立行走 (≥36个月). 低血压 (83%) 和高血压 (16%) 是普遍存在的,10%的人被诊断为脑.
结论:
- 遗传神经发育障碍具有广泛的运动障碍.
- 需要对这些运动现象型进行更详细的描述.
- 识别特定的运动缺陷可以帮助针对受影响个体进行有针对性的干预.
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