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在生命的前三年内,NF1特定的头周长增长图表

Ayan S Mandal^1,2,3, Russell T Shinohara⁴, Benjamin Jung^2,3

¹Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

medRxiv : the preprint server for health sciences

|July 16, 2025

概括

1型神经纤维素炎 (NF1) 的新头周长生长图显示,相对于NF1预期的头部尺寸较小与发育迟缓有关. 这些NF1特异性图表可能有助于更好地检测NF1.1儿童的非典型生长模式.

科学领域:

儿科神经学儿科神经学
遗传学是一个遗传学.
增长和发展增长和发展

背景情况:

宏观头是神经纤维素炎1型 (NF1) 的常见发现.
标准生长图表可能不会准确地反映NF1.1中预期的头部大小.
特定于NF1的图表可以提高非典型生长的检测.

研究的目的:

为0-3岁的年龄组创建NF1特定的头周长增长图表.
评估这些专业图表的临床影响.

主要方法:

利用来自儿童医院的电子健康记录.
从NF1和对照组的儿童收集了头周长数据.
开发了NF1特定的生长图表,并将其与CDC图表进行了比较.
使用统计模型将成长百分位与发育迟缓联系起来.

主要成果:

与对照组相比,NF1儿童的头周长显著增加.
特定于NF1的图表显示,最初头部增长较慢,但随着时间的推移持续增长.
与NF1预期相比,头部周长较小,未被CDC图表检测到,与发育迟缓相关.

结论:

介绍了第一个NF1特定的头周长增长图表0-3岁.
随着年龄的增长,NF1中的大脑变得更加明显.
特定于NF1的图表可以提高识别NF1儿童生长模式和发育迟缓的灵敏度.

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