Brain Connectivity Signatures of Behavior and Cognition in Duchenne Muscular Dystrophy

项目总结 Duchenne肌营养不良症(DMD)的治疗方法(药物和遗传学)旨在改善 肌肉功能和延缓疾病的发展。因此，骨骼甚至心脏 肌肉学研究得很好。然而，关注大脑结构的研究一直很少，尽管 各种不同的认知缺陷都有报道。使用先进的治疗方法，如外显子 跳过，以及VBP15等类固醇替代品进入人体试验，人们对 提高DMD患者的预期寿命和质量。因此，更好地理解 大脑结构及其与认知功能的假设联系变得重要起来。我们的计划是收集飞行员的大脑 36名儿童(24名DMD儿童和12名健康儿童，均为8~21岁)的影像资料 来自人类连接组项目的成像协议。我们的首要目标是确定大脑连接 通过研究结构神经成像信号和功能的潜力来预测DMD的认知生物标志物 连接模体，并将它们与大脑中的基因表达谱联系起来。

PROJECT SUMMARY Therapies (drugs and genetics-based) in Duchenne Muscular Dystrophy (DMD) are targeted towards improving muscle function and arresting the progression of disease. As a result, the skeletal and even the cardiac musculature are well researched. However, studies focusing on brain structure have been sparse even though varying cognitive deficits have been reported across the spectrum. With advancing treatments, such as exon skipping, as well as steroid alternatives such as VBP15 moving to human trials, there is renewed optimism about improving the life expectancy and quality of patients with DMD. Consequently, a better understanding of the brain structure and its putative link with cognitive function becomes important. Our plan is to collect pilot brain imaging data in 36 children (24 children with DMD and 12 healthy controls, both 8~21 years) using cutting-edge imaging protocols from the Human Connectome Project. Our overarching goal is to identify a brain connectivity biomarker of cognition in DMD by investigating the potential of structural neuroimaging signatures and functional connectomic motifs and relating them to gene expression profiles in the brain.