患有CDKL5缺乏障碍的个体的生长模式
Kingsley Wong1, George Davies2, Helen Leonard1
1Telethon Kids Institute, Perth, Western Australia, Australia.
Developmental medicine and child neurology
|October 7, 2023
概括
与人口规范相比,患有循环素依赖性酶类5 (CDKL5) 缺陷障碍的个体表现出生长受损,特别是头周长. 胃口术在CDKL5疾病患者的体重和BMI方面提供了有限的早期好处.
科学领域:
- 遗传学和发育障碍 遗传学和发育障碍
- 儿科生长和发育的发展.
- 临床营养学 临床营养学
背景情况:
- 循环素依赖酶类5 (CDKL5) 缺乏症是一种罕见的遗传疾病,影响大脑发育.
- 在CDKL5缺乏障碍患者中经常观察到生长异常.
- 营养干预措施 (如胃口术) 对这一群体生长的影响需要进一步研究.
研究的目的:
- 为了比较CDKL5缺陷障碍患者的人类测量 (体重,身高,BMI,头周) 与人口规范.
- 评估胃口管放置对患有CDKL5缺乏障碍的个体生长参数的影响.
主要方法:
- 一项纵向研究利用国际CDKL5疾病数据库中的353名个体的数据.
- 根据年龄和性别标准化的z分数是使用英国1990年增长参考计算的.
- 用通用估计方程的高斯线性回归模型来分析重复的横截面数据.
主要成果:
- 所有测量的生长参数,包括体重,身高,BMI和头周,均明显低于人口标准 (平均z分数分别为-0.97,-0.65,-0.81和-2.12).
- 除了BMI外,生长缺陷在4岁后更加明显.
- 与没有胃口的人相比,胃口术患者的生长参数下降幅度更大.
结论:
- CDKL5缺乏症与体重,身高,BMI,尤其是头周长的生长受损有关.
- 微头症可能成为CDKL5缺乏障碍的有价值的诊断指标,特别是在成年人中.
- 胃口切口安置证明了对体重和BMI的暂时益处,主要是在生命早期观察到的.
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