From the Neuroimaging of Epilepsy Laboratory (R.S.G., H.-M.L., B.C., S.-J.H., N.B., A.B.), Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada; Pediatric Neurology Unit and Laboratories (C.B., M.L., R.G.), Children's Hospital A. Meyer-University of Florence, Italy; Epilepsy Unit (F.D.) and Neuroradiology (L.D.), Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Department of Neurology (V.C.M.C., F.C.), University of Campinas, Brazil; The Florey Institute of Neuroscience and Mental Health and The University of Melbourne (M.S., G.J.), Victoria, Australia; Department of Pediatrics (D.V.S.), British Columbia Children's Hospital, Vancouver, Canada; Aix Marseille University (F.B.), INSERM UMR 1106, Institut de Neurosciences des Systèmes; Aix Marseille University (M.G.), CNRS, CRMBM UMR 7339, Marseille, France; Freiburg Epilepsy Center (A.S.-B., H.U.), Universitätsklinikum Freiburg, Germany; Department of Neurology (K.H.C.), Yonsei University College of Medicine, Seoul, Korea; and Department of Neurology (R.E.H.), Washington University School of Medicine, St. Louis, MO.
Neurology. 2021 Oct 19;97(16):e1571-e1582. doi: 10.1212/WNL.0000000000012698. Epub 2021 Sep 14.
To test the hypothesis that a multicenter-validated computer deep learning algorithm detects MRI-negative focal cortical dysplasia (FCD).
We used clinically acquired 3-dimensional (3D) T1-weighted and 3D fluid-attenuated inversion recovery MRI of 148 patients (median age 23 years [range 2-55 years]; 47% female) with histologically verified FCD at 9 centers to train a deep convolutional neural network (CNN) classifier. Images were initially deemed MRI-negative in 51% of patients, in whom intracranial EEG determined the focus. For risk stratification, the CNN incorporated bayesian uncertainty estimation as a measure of confidence. To evaluate performance, detection maps were compared to expert FCD manual labels. Sensitivity was tested in an independent cohort of 23 cases with FCD (13 ± 10 years). Applying the algorithm to 42 healthy controls and 89 controls with temporal lobe epilepsy disease tested specificity.
Overall sensitivity was 93% (137 of 148 FCD detected) using a leave-one-site-out cross-validation, with an average of 6 false positives per patient. Sensitivity in MRI-negative FCD was 85%. In 73% of patients, the FCD was among the clusters with the highest confidence; in half, it ranked the highest. Sensitivity in the independent cohort was 83% (19 of 23; average of 5 false positives per patient). Specificity was 89% in healthy and disease controls.
This first multicenter-validated deep learning detection algorithm yields the highest sensitivity to date in MRI-negative FCD. By pairing predictions with risk stratification, this classifier may assist clinicians in adjusting hypotheses relative to other tests, increasing diagnostic confidence. Moreover, generalizability across age and MRI hardware makes this approach ideal for presurgical evaluation of MRI-negative epilepsy.
This study provides Class III evidence that deep learning on multimodal MRI accurately identifies FCD in patients with epilepsy initially diagnosed as MRI negative.
本研究旨在验证一个多中心验证的计算机深度学习算法是否能够检测到 MRI 阴性的局灶性皮质发育不良(FCD)。
我们使用来自 9 个中心的 148 例经组织学证实的 FCD 患者的临床采集的三维(3D)T1 加权和 3D 液体衰减反转恢复 MRI,对一个深度卷积神经网络(CNN)分类器进行训练。在最初的 51%的患者中,图像被认为是 MRI 阴性,在这些患者中,颅内 EEG 确定了病灶。为了进行风险分层,CNN 纳入了贝叶斯不确定性估计作为置信度的度量。为了评估性能,检测图与专家 FCD 手动标记进行了比较。在一个独立的 FCD 病例队列(23 例,平均年龄 13±10 岁)中测试了敏感性。将算法应用于 42 名健康对照和 89 名颞叶癫痫疾病对照中,测试了特异性。
采用留一法交叉验证,总体敏感性为 93%(148 例 FCD 中 137 例被检测到),平均每位患者有 6 个假阳性。MRI 阴性 FCD 的敏感性为 85%。在 73%的患者中,FCD 位于置信度最高的簇中;在一半的患者中,它的置信度最高。在独立队列中,敏感性为 83%(23 例中有 19 例;平均每位患者有 5 个假阳性)。在健康和疾病对照组中,特异性为 89%。
这是第一个多中心验证的深度学习检测算法,在 MRI 阴性的 FCD 中达到了迄今为止最高的敏感性。通过将预测与风险分层相结合,这种分类器可以帮助临床医生根据其他测试调整假设,增加诊断信心。此外,这种方法在年龄和 MRI 硬件方面具有通用性,非常适合 MRI 阴性癫痫的术前评估。
本研究提供了 III 级证据,表明多模态 MRI 上的深度学习能够准确识别最初被诊断为 MRI 阴性的癫痫患者的 FCD。