School of Medicine, Chung Shan Medical University, Taichung, Taiwan,Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan,Department of Psychology, Chung Shan Medical University, Taichung, Taiwan,Clinical Psychological Room, Chung Shan Medical University Hospital, Taichung,Taiwan,Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan,Department of Medical Imaging, Chung Shan Medical University Hospital, TaichungTaiwan,Department of Medical Imaging and Radiological Sciences, and Graduate Institute of Artificial Intelligence, Chang Gung University, Taoyuan, Taiwan,MedicalImaging Research Center, Institute for Radiological Research, Chang Gung University and Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan,Department ofPsychiatry, Chang Gung Memorial Hospital, Chiayi, Taiwan.
Medicine (Baltimore). 2022 Mar 18;101(11). doi: 10.1097/MD.0000000000029024.
Tuberous sclerosis complex (TSC) is a rare genetic disorder with multisystem involvement. TSC is characterized by benign hamartomas in multiple organs, including the brain, and its clinical phenotypes may be associated with abnormal functional connections. We aimed to use resting-state functional connectivity to provide findings of disrupted functional brain networks in TSC patients using graph theoretical analysis (GTA) and network-based statistic (NBS) analysis.Forty TSC patients (age = 24.11+/-11.44 years old) and 18 age-matched (25.13+/- 10.01 years old) healthy controls were recruited; they underwent resting-state functional magnetic resonance imaging using a 3T magnetic resonance imaging scanner. After image preprocessing and removing physiological noises, GTA was used to calculate the topological parameters of the brain network. NBS analysis was then used to determine the differences in cerebrum functional connectivity between the 2 groups.In GTA, several topological parameters, including the clustering coefficient, local efficiency, transitivity, and modularity, were better in controls than in TSC patients (P < .05). In NBS analysis, the edges of the brain networks between the groups were compared. One subnetwork showed more edges in controls than in TSC patients (P < .05), including the connections from the frontal lobe to the temporal and parietal lobe.The study results provide the findings on disrupted functional connectivity and organization in TSC patients compared with controls. The findings may help better understand the underlying physiological mechanisms of brain connection in TSC.
结节性硬化症复合征（TSC）是一种罕见的多系统受累的遗传性疾病。TSC 的特征是多个器官存在良性错构瘤，包括大脑，其临床表型可能与异常功能连接有关。我们旨在使用静息态功能连接，通过图论分析（GTA）和基于网络的统计学（NBS）分析，为 TSC 患者提供功能脑网络中断的发现。
招募了 40 名 TSC 患者（年龄=24.11+/-11.44 岁）和 18 名年龄匹配的健康对照者（25.13+/-10.01 岁）；他们使用 3T 磁共振成像扫描仪进行了静息态功能磁共振成像。在图像预处理和去除生理噪声后，使用 GTA 计算脑网络的拓扑参数。然后使用 NBS 分析来确定两组之间大脑功能连接的差异。
在 GTA 中，几个拓扑参数，包括聚类系数、局部效率、传递性和模块性，在对照组中均优于 TSC 患者（P<0.05）。在 NBS 分析中，比较了两组大脑网络的边缘。一个子网络显示对照组的边缘比 TSC 患者多（P<0.05），包括额叶到颞叶和顶叶的连接。
研究结果提供了与对照组相比 TSC 患者功能连接和组织中断的发现。这些发现可能有助于更好地理解 TSC 中大脑连接的潜在生理机制。
