患有史密斯-马格尼斯综合征 (SMS) 的儿童的生长标准
Julie Hoover-Fong1, John McGready2, Leah Fleming3
1Department of Genetic Medicine, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University, Baltimore, Maryland, USA.
American journal of medical genetics. Part A
|October 21, 2025
概括
这项研究引入了史密斯-马格尼斯综合征 (SMS) 的第一个标准化生长图表,有助于临床监测受影响个体的生长和发育. 这些图表提供了线性生长,体重和SMS患者头部周长的基本参考点.
科学领域:
- 遗传学和发育生物学
- 儿科内分泌学 儿科内分泌学
- 临床遗传学 临床遗传学
背景情况:
- 史密斯-马格尼斯综合征 (SMS) 是一种由RAI1基因脱节性引起的复杂遗传疾病,其特征是明显的面部特征,神经行为差异和生长异常.
- 现有的生长参考数据不足以监测SMS患者,阻碍了准确的临床评估和研究.
- 短身和中部肥胖在SMS中很常见,需要特定的生长参数.
研究的目的:
- 为患有史密斯-马格尼斯综合征的个体开发了第一个标准化的生长曲线.
- 为临床医生提供可靠的工具来监测SMS患者的线性生长,体重增加和头周长.
- 在临床护理和研究环境中为SMS建立增长评估的参考数据.
主要方法:
- 人类测量数据 (身长/身高,体重,头部周长) 从190名SMS患者 (出生至成年) 通过直接接触,父母报告和医疗记录收集.
- 以性别为特征的长度/身高-年龄和体重-年龄曲线 (0-15岁) 使用多项式平滑线条创建.
- 头周长-年龄曲线 (0-5岁) 是通过汇集两性数据来生成的.
主要成果:
- 该研究产生了第一个标准化的长度/身高-年龄,体重-年龄和头部周长-年龄曲线,专门针对SMS患者.
- 这些曲线包括第5,第50和第95百分点线,涵盖从出生到15岁的身高和体重的年龄,以及从出生到5岁的头周长.
- 数据包括近6000次测量,为增长评估提供了强大的数据集.
结论:
- 新开发的生长曲线对于监测和管理史密斯-马格尼斯综合征患者的生长参数至关重要.
- 这些标准化图表将促进一致的临床护理,并提高涉及SMS的研究研究的准确性.
- 这些曲线的可用性使得对SMS群体的增长轨迹有更好的预期设置.
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