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ENIGMA-DTI: Translating reproducible white matter deficits into personalized vulnerability metrics in cross-diagnostic psychiatric research
Human Brain Mapping ( IF 4.8 ) Pub Date : 2020-04-16 , DOI: 10.1002/hbm.24998
Peter Kochunov 1 , L Elliot Hong 1 , Emily L Dennis 2, 3, 4, 5 , Rajendra A Morey 6 , David F Tate 4, 5 , Elisabeth A Wilde 4, 5 , Mark Logue 7, 8, 9, 10 , Sinead Kelly 3, 11 , Gary Donohoe 12 , Pauline Favre 13, 14 , Josselin Houenou 13, 14, 15, 16 , Christopher R K Ching 3 , Laurena Holleran 12 , Ole A Andreassen 17, 18 , Laura S van Velzen 19, 20 , Lianne Schmaal 19, 20 , Julio E Villalón-Reina 3 , Carrie E Bearden 21, 22 , Fabrizio Piras 23 , Gianfranco Spalletta 23, 24 , Odile A van den Heuvel 25 , Dick J Veltman 25 , Dan J Stein 26 , Meghann C Ryan 1 , Yunlong Tan 27 , Theo G M van Erp 28, 29 , Jessica A Turner 30 , Liz Haddad 3 , Talia M Nir 3 , David C Glahn 31, 32 , Paul M Thompson 3 , Neda Jahanshad 3
Affiliation  

The ENIGMA-DTI (diffusion tensor imaging) workgroup supports analyses that examine the effects of psychiatric, neurological, and developmental disorders on the white matter pathways of the human brain, as well as the effects of normal variation and its genetic associations. The seven ENIGMA disorder-oriented working groups used the ENIGMA-DTI workflow to derive patterns of deficits using coherent and coordinated analyses that model the disease effects across cohorts worldwide. This yielded the largest studies detailing patterns of white matter deficits in schizophrenia spectrum disorder (SSD), bipolar disorder (BD), major depressive disorder (MDD), obsessive–compulsive disorder (OCD), posttraumatic stress disorder (PTSD), traumatic brain injury (TBI), and 22q11 deletion syndrome. These deficit patterns are informative of the underlying neurobiology and reproducible in independent cohorts. We reviewed these findings, demonstrated their reproducibility in independent cohorts, and compared the deficit patterns across illnesses. We discussed translating ENIGMA-defined deficit patterns on the level of individual subjects using a metric called the regional vulnerability index (RVI), a correlation of an individual's brain metrics with the expected pattern for a disorder. We discussed the similarity in white matter deficit patterns among SSD, BD, MDD, and OCD and provided a rationale for using this index in cross-diagnostic neuropsychiatric research. We also discussed the difference in deficit patterns between idiopathic schizophrenia and 22q11 deletion syndrome, which is used as a developmental and genetic model of schizophrenia. Together, these findings highlight the importance of collaborative large-scale research to provide robust and reproducible effects that offer insights into individual vulnerability and cross-diagnosis features.

中文翻译:

ENIGMA-DTI:将可重复的白质缺陷转化为交叉诊断精神病学研究中的个性化脆弱性指标

ENIGMA-DTI(扩散张量成像)工作组支持分析精神、神经和发育障碍对人脑白质通路的影响,以及正常变异及其遗传关联的影响。七个以 ENIGMA 疾病为导向的工作组使用 ENIGMA-DTI 工作流程,通过连贯和协调的分析来得出缺陷模式,这些分析模拟了全球队列中的疾病影响。这项研究详细介绍了精神分裂症谱系障碍 (SSD)、双相情感障碍 (BD)、重度抑郁症 (MDD)、强迫症 (OCD)、创伤后应激障碍 (PTSD) 和创伤性脑损伤的白质缺陷模式(TBI) 和 22q11 缺失综合征。这些缺陷模式为潜在的神经生物学提供了信息,并且可以在独立队列中重现。我们回顾了这些发现,证明了它们在独立队列中的可重复性,并比较了不同疾病的缺陷模式。我们讨论了使用区域脆弱性指数 (RVI) 指标将 ENIGMA 定义的缺陷模式转化为个体受试者的水平,RVI 是个体大脑指标与疾病预期模式的相关性。我们讨论了 SSD、BD、MDD 和 OCD 之间白质缺陷模式的相似性,并提供了在交叉诊断神经精神病学研究中使用该指数的基本原理。我们还讨论了特发性精神分裂症和 22q11 缺失综合征(用作精神分裂症的发育和遗传模型)之间缺陷模式的差异。总之,这些发现凸显了大规模协作研究的重要性,以提供强大且可重复的效果,从而深入了解个体脆弱性和交叉诊断特征。
更新日期:2020-04-16
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