基因组和发育模型预测自闭症儿童的认知和适应结果.
Vincent-Raphaël Bourque1,2,3,4, Zoe Schmilovich3, Guillaume Huguet1
1CHU Sainte-Justine Pediatric Hospital and Research Centre, Université de Montréal, Montréal, Québec, Canada.
JAMA pediatrics
|April 21, 2025
概括
在自闭症儿童中预测智力障碍 (ID) 是一个挑战. 结合遗传变异和发育里程碑的模型显示出早期干预的前景,尽管单个遗传因素是不够的.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 发育儿科 发育儿科
背景情况:
- 自闭症谱系障碍 (ASD) 的早期迹象出现在幼儿时期,但预测同时出现的智力障碍 (ID) 仍然很困难.
- 目前的临床工具缺乏预测能力来识别患有ID高风险的自闭症儿童.
研究的目的:
- 开发和验证用于识别被诊断患有自闭症谱系障碍 (ASD) 的儿童智力障碍 (ID) 的预测模型.
主要方法:
- 一项预后研究开发并验证了整合遗传变异和发育里程碑的模型.
- 模型经过训练,交叉验证,并在三个大型自闭症队列 (SPARK,SSC,MSSNG) 中进行了测试.
- 用AUROC,PPV和NPV来评估预测性表现.
主要成果:
- 综合模型实现了0.653的AUROC,证明了跨队列的概括性.
- 基因变异的组合,通常不具有临床相关性,实现了55%的PPV,确定了10%的患有ID的人.
- 多基因分数改善了负预测值 (NPV) 当添加到发展里程碑时.
结论:
- 个人神经发育状况相关的变异通常不足以预测ID.
- 结合遗传变异和发育里程碑的模型为早期干预目标提供了临床相关的预测.
- 对ID概率的遗传分层在发育里程碑延迟的个体中更有效.
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