Brain Alteration Patterns in Children with Duchenne Muscular Dystrophy: A Machine Learning Approach to Magnetic Resonance Imaging.

IF 3.2 4区 医学 Q2 CLINICAL NEUROLOGY
D. Peruzzo, Tommaso Ciceri, Sara Mascheretti, Valentina Lampis, Filippo Arrigoni, Nivedita Agarwal, Alice Giubergia, Filippo Maria Villa, Alessandro Crippa, Maria Nobile, Elisa Mani, Annamaria Russo, Maria Grazia D'Angelo
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Abstract

Background Duchenne Muscular Dystrophy (DMD) is a genetic disease in which lack of the dystrophin protein causes progressive muscular weakness, cardiomyopathy and respiratory insufficiency. DMD is often associated with other cognitive and behavioral impairments, however the correlation of abnormal dystrophin expression in the central nervous system with brain structure and functioning remains still unclear. Objective To investigate brain involvement in patients with DMD through a multimodal and multivariate approach accounting for potential comorbidities. Methods We acquired T1-weighted and Diffusion Tensor Imaging data from 18 patients with DMD and 18 age- and sex-matched controls with similar cognitive and behavioral profiles. Cortical thickness, structure volume, fractional anisotropy and mean diffusivity measures were used in a multivariate analysis performed using a Support Vector Machine classifier accounting for potential comorbidities in patients and controls. Results the classification experiment significantly discriminates between the two populations (97.2% accuracy) and the forward model weights showed that DMD mostly affects the microstructural integrity of long fiber bundles, in particular in the cerebellar peduncles (bilaterally), in the posterior thalamic radiation (bilaterally), in the fornix and in the medial lemniscus (bilaterally). We also reported a reduced cortical thickness, mainly in the motor cortex, cingulate cortex, hippocampal area and insula. Conclusions Our study identified a small pattern of alterations in the CNS likely associated with the DMD diagnosis.
杜兴氏肌肉萎缩症患儿的大脑改变模式:磁共振成像的机器学习方法。
背景杜氏肌营养不良症(DMD)是一种遗传性疾病,缺乏肌营养不良蛋白会导致进行性肌无力、心肌病和呼吸功能不全。DMD 常伴有其他认知和行为障碍,但中枢神经系统中 dystrophin 的异常表达与大脑结构和功能的相关性仍不清楚。方法我们获取了 18 名 DMD 患者和 18 名年龄和性别匹配、认知和行为特征相似的对照组的 T1 加权和弥散张量成像数据。在使用支持向量机分类器进行多变量分析时,使用了皮质厚度、结构体积、分数各向异性和平均弥散度测量,并考虑了患者和对照组的潜在合并症。分类实验明显区分了两种人群(准确率为 97.2%),前向模型权重显示,DMD 主要影响长纤维束的微观结构完整性,尤其是小脑脚(双侧)、丘脑后部辐射(双侧)、穹窿和内侧半月板(双侧)。我们还报告了皮层厚度的减少,主要是在运动皮层、扣带回皮层、海马区和岛叶。
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来源期刊
Journal of neuromuscular diseases
Journal of neuromuscular diseases Medicine-Neurology (clinical)
CiteScore
5.10
自引率
6.10%
发文量
102
期刊介绍: The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.
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