与自闭症社会障碍相关的大脑网络中的跨诊断相似性和区别:一个前性队列研究
Jennifer L Bruno1, Julia R Plank2, Samantha Leder2
1Department of Psychiatry and Behavioral Sciences, Stanford University, 1520 Page Mill Road Palo Alto, Stanford, CA, 94305, USA. jenbruno@stanford.edu.
Molecular autism
|November 19, 2025
概括
患有努南综合征 (NS) 的儿童表现出类似于自闭症谱系障碍 (ASD) 的大脑网络模式. 这项研究使用预测建模来将NS大脑连接与ASD症状联系起来,在数据集中验证发现.
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) 病理生理学并未得到充分理解,尽管其流行程度很高.
- RAS-mitogen-activated protein kinase (RAS-MAPK) 途径与ASD有关,并且在诺南综合征 (NS) 中发生变化.
- 患有NS的儿童是研究ASD遗传和神经学的基础的宝贵模型.
研究的目的:
- 研究与NS儿童社会障碍相关的功能性大脑网络解剖学.
- 测试ASD症状预测模型的概括性,在一个大型的非综合征队列 (ABIDE) 中开发到患有NS的儿童.
主要方法:
- 使用了功能磁共振成像 (fMRI) 和基于连接体的预测建模 (CPM).
- 应用CPM对患有NS的儿童的fMRI数据 (n=28) 来预测自闭症症状严重程度 (SRS得分).
- 来自ABIDE队列 (n=352) 的预测模型被测试了其预测NS队列症状严重程度的能力.
主要成果:
- 预测模型与NS儿童观察到的社会响应得分有显著的相关性 (r=0.43,p=0.011).
- 在自闭症丰富的ABIDE队列中开发的模型也显著预测了NS队列中的症状严重程度 (r=0.46,p=0.018).
- 两个队伍的共享预测性大脑网络涉及皮质下大脑和视觉处理区域.
结论:
- 尽管NS队列很小,但交叉数据集验证取得了成功,突出了对罕见遗传综合征的大型公共数据集的有用性.
- 融合的功能连接模式表明,在NS和非综合征性ASD中,自闭症症状的神经学基础是共同的.
- 对RAS-MAPK通路失调的进一步研究是有必要的,以了解其在ASD相关的大脑功能中的作用.
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