Padula Maria C, Schaer Marie, Scariati Elisa, Maeder Johanna, Schneider Maude, Eliez Stephan
Developmental Imaging and Psychopathology Laboratory, Department of Psychiatry, University of Geneva School of medicine, Geneva, Switzerland.
Stanford Cognitive and Systems Neuroscience Laboratory, Stanford University School of Medicine, Stanford, California.
Hum Brain Mapp. 2017 Apr;38(4):2177-2189. doi: 10.1002/hbm.23512. Epub 2017 Jan 24.
Large-scale brain networks play a prominent role in cognitive abilities and their activity is impaired in psychiatric disorders, such as schizophrenia. Patients with 22q11.2 deletion syndrome (22q11DS) are at high risk of developing schizophrenia and present similar cognitive impairments, including executive functions deficits. Thus, 22q11DS represents a model for the study of neural biomarkers associated with schizophrenia. In this study, we investigated structural and functional connectivity within and between the Default Mode (DMN), the Central Executive (CEN), and the Saliency network (SN) in 22q11DS using resting-state fMRI and DTI. Furthermore, we investigated if triple network impairments were related to executive dysfunctions or the presence of psychotic symptoms. Sixty-three patients with 22q11DS and sixty-eighty controls (age 6-33 years) were included in the study. Structural connectivity between main nodes of DMN, CEN, and SN was computed using probabilistic tractography. Functional connectivity was computed as the partial correlation between the time courses extracted from each node. Structural and functional connectivity measures were then correlated to executive functions and psychotic symptom scores. Our results showed mainly reduced structural connectivity within the CEN, DMN, and SN, in patients with 22q11DS compared with controls as well as reduced between-network connectivity. Functional connectivity appeared to be more preserved, with impairments being evident only within the DMN. Structural connectivity impairments were also related to executive dysfunctions. These findings show an association between triple network structural alterations and executive deficits in patients with the microdeletion, suggesting that 22q11DS and schizophrenia share common psychopathological mechanisms. Hum Brain Mapp 38:2177-2189, 2017. © 2017 Wiley Periodicals, Inc.
大规模脑网络在认知能力中起着重要作用，其活动在精神疾病（如精神分裂症）中会受损。患有22q11.2缺失综合征（22q11DS）的患者患精神分裂症的风险很高，并且表现出类似的认知障碍，包括执行功能缺陷。因此，22q11DS代表了一个研究与精神分裂症相关的神经生物标志物的模型。在本研究中，我们使用静息态功能磁共振成像（fMRI）和扩散张量成像（DTI）研究了22q11DS患者默认模式网络（DMN）、中央执行网络（CEN）和突显网络（SN）内部及之间的结构和功能连接性。此外，我们研究了三重网络损伤是否与执行功能障碍或精神病性症状的存在有关。该研究纳入了63名22q11DS患者和68名对照（年龄6 - 33岁）。使用概率纤维束成像计算DMN、CEN和SN主要节点之间的结构连接性。功能连接性计算为从每个节点提取的时间序列之间的偏相关性。然后将结构和功能连接性测量结果与执行功能和精神病性症状评分相关联。我们的结果显示，与对照组相比，22q11DS患者中CEN、DMN和SN内部的结构连接性主要降低，网络间连接性也降低。功能连接性似乎保存得更好，仅在DMN内部存在明显损伤。结构连接性损伤也与执行功能障碍有关。这些发现表明微缺失患者的三重网络结构改变与执行缺陷之间存在关联，提示22q11DS和精神分裂症具有共同的精神病理机制。《人类大脑图谱》38:2177 - 2189，2017年。© 2017威利期刊公司。
