神经发育障碍与多维障碍中的遗传异常
Cyril Hanin1,2,3, Paloma Torres1,2, Isabelle Millet1,2
1Department of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
Journal of molecular neuroscience : MN
|October 2, 2025
概括
基因检测显示,患有复杂神经发育障碍 (NDD) 的儿童经常出现异常,缺乏具体诊断. 这凸显了在这些具有挑战性的情况下需要进行系统的遗传评估的必要性.
科学领域:
- 遗传学 是一个遗传学.
- 神经发育障碍 神经发育障碍
- 临床诊断 临床诊断 临床诊断
背景情况:
- 患有神经发育障碍 (NDD) 的儿童经常出现复杂的多维障碍.
- 目前的诊断标准 (DSM-5) 缺乏这样的病例的类别,使他们"诊断无家可归".
- 调查遗传原因对于理解这些复杂的NDD表现至关重要.
研究的目的:
- 确定患有复杂NDD和多维障碍的儿童遗传异常的流行率.
- 探索该群体中临床维度和遗传发现之间的潜在关联.
主要方法:
- 在2017-2019年期间666名患者中诊断出多维障碍 (MDI).
- 对122名患者进行了基因评估,包括DNA微阵列,型,基因组,FISH,FMR1测试和外基因组/基因组测序.
- 利用单变量分析和聚类来分析数据.
主要成果:
- 在122名患者中,78名患者 (64%) 发现了遗传异常.
- 发现包括已知的NDD相关异常 (41),与严重ASD/ID相关的突变 (16),新奇异常 (11),以及不确定的意义的变异 (10).
- 在临床尺寸/严重程度集群和遗传异常存在之间没有发现任何关联.
结论:
- 在患有复杂NDD和多维障碍的儿童中,观察到高基因发现率 (47-64%).
- 这强调了在这个患者群体中进行系统基因检测的必要性.
- 对严重病例的转诊偏差被注意到,但遗传发现仍然很重要.
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