克莱夫斯特拉综合征的婴儿和幼儿发育概况
Shanna L Yue1, Rajapillai L I Pillai1, Zoë Frazier1
1Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
American journal of medical genetics. Part A
|February 7, 2026
概括
这项研究详细介绍了克莱夫斯特拉综合征的早期发展,发现从婴儿时期起,运动和语言里程碑的显著延迟. 早期介入治疗对于Kleefstra综合征儿童的最佳技能发展至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 发育儿科 发育儿科
- 神经学 神经学
背景情况:
- 克莱夫斯特拉综合征的早期发育轨迹还不清楚.
- 了解发展的里程碑是早期干预策略的关键.
研究的目的:
- 描述Kleefstra综合征患者早期发育特征.
- 使用标准化工具量化语言和视觉运动发展.
主要方法:
- 对100名分子确诊的克莱夫斯特拉综合征患者的回顾性图表审查.
- 分析运动和语言里程碑的年龄.
- 在一组患者中使用卡普特尺度评估语言和视觉运动技能的发育系数 (DQs).
主要成果:
- 里程碑的平均年龄:滚动 (6个月),坐着 (10个月),走路 (1.96年),第一次说话 (24个月).
- 中位数DQs:视觉运动 (53),整体语言 (56),表达语言 (52),接受语言 (50).
- 显著的发育迟缓在生命的早期是显而易见的.
结论:
- 克莱夫斯特拉综合征的早期发育迟缓需要立即开始体力,职业和语言治疗.
- 长度发展评估对于定制的临床护理和教育支持至关重要.
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