特发性自闭症谱系障碍和脆性X综合征儿童独特和共享的内在静息状态功能网络

IF 10.1 1区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Dongyun Li, Danyong Feng, Chunchun Hu, Yuxin Tian, Allan L. Reiss, Randi J. Hagerman, Xiu Xu, Zhongwei Qiao, Rihui Li, Qiong Xu
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引用次数: 0

摘要

自闭症谱系障碍(ASD)和脆性X染色体综合征(FXS)在行为上是重叠的。然而,对于FXS和ASD的认知和行为特征背后的功能模式知之甚少。本研究旨在确定FXS和特发性ASD患儿中不同或/和共享的功能网络。我们连续招募了150名儿童,分为FXS组、特发性ASD组和典型发育(TD)儿童组。FXS组采集静息状态功能磁共振成像(fMRI)和行为学数据,获取遗传信息。我们比较了三组患者的功能连通性(FC),发现FXS和ASD患者的默认模式网络(DMN)、感觉运动网络(SMN)、小脑网络(CN)和视觉网络(VN)的FC均明显低于TD。FXS特别表现出DMN内FC降低,而FXS和ASD均表现出CN内FC显著降低,CN与DMN、SMN、VN之间FC也分别显著降低。在FXS和ASD患儿中发现了异常的CN拓扑改变,而ASD组在整合感觉和视觉信息以及运动协调功能的区域中表现出明显较低的分离。此外,FXS的社会情感严重程度与大脑-小脑各网络的平均FC之间的相关性与ASD中观察到的趋势明显不同。在FXS组中,发现小脑I小腿的拓扑测量与DNA甲基化水平呈负相关。这些结果具有统计学上的稳健性,并证明了FXS和ASD这两种表型重叠的发育障碍中固有功能网络的共享和独特特征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Distinct and shared intrinsic resting-state functional networks in children with idiopathic autism spectrum disorder and fragile X syndrome

Distinct and shared intrinsic resting-state functional networks in children with idiopathic autism spectrum disorder and fragile X syndrome

Autism spectrum disorder (ASD) and fragile X syndrome (FXS) are behaviorally overlapped. However, little is known about the functional patterns underlying the cognitive and behavioral characteristics of FXS and ASD. The present study aimed to identify the distinct or/and shared functional networks in young children with FXS and idiopathic ASD. We recruited 150 children consecutively in a group with FXS, a group with idiopathic ASD, and a group with typically developing (TD) children. Resting-state functional magnetic resonance imaging (fMRI) and behavioral data were collected and genetic information was obtained in the FXS group. We compared functional connectivity (FC) among the three groups and found that both FXS and ASD showed significantly decreased FC among the default mode network (DMN), sensorimotor network (SMN), cerebellum network (CN), and visual network (VN) relative to TD. FXS specifically demonstrated decreased FC within DMN, while both FXS and ASD exhibited significantly decreased FC within the CN and also between the CN and DMN, SMN, VN, respectively. Aberrant topological alterations of CN were identified in children with FXS and ASD, while ASD group showed significantly lower segregation in regions that integrate sensory and visual information, and motor coordination function. Moreover, correlations between the severity of social affect and mean FC of various cerebral-cerebellum networks in FXS exhibited significantly distinct trends from those observed in ASD. In the FXS group, the topological measure at crus I of the cerebellum is found to be negatively associated with DNA methylation levels. These results were statistically robust and demonstrated the shared and distinct profiles of intrinsic functional networks in FXS and ASD, two phenotypically overlapping developmental disorders.

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来源期刊
Molecular Psychiatry
Molecular Psychiatry 医学-精神病学
CiteScore
20.50
自引率
4.50%
发文量
459
审稿时长
4-8 weeks
期刊介绍: Molecular Psychiatry focuses on publishing research that aims to uncover the biological mechanisms behind psychiatric disorders and their treatment. The journal emphasizes studies that bridge pre-clinical and clinical research, covering cellular, molecular, integrative, clinical, imaging, and psychopharmacology levels.
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