Wilson disease tissue classification and characterization using seven artificial intelligence models embedded with 3D...

Wilson's disease (WD) is caused by copper accumulation in the brain and liver, and if not treated early, can lead to severe disability and death. WD has shown white matter hyperintensity (WMH) in the brain magnetic resonance scans (MRI) scans, but the diagnosis is challenging due to (i) subtle intensity changes and (ii) weak training MRI when using artificial intelligence (AI). Design and validate seven types of high-performing AI-based computer-aided design (CADx) systems consisting of 3D optimized classification, and characterization of WD against controls. We propose a "conventional deep convolution neural network" (cDCNN) and an "improved DCNN" (iDCNN) where rectified linear unit (ReLU) activation function was modified ensuring "differentiable at zero." Three-dimensional optimization was achieved by recording accuracy while changing the CNN layers and augmentation by several folds. WD was characterized using (i) CNN-based feature map strength and (ii) Bispectrum strengths of pixels having higher probabilities of WD. We further computed the (a) area under the curve (AUC), (b) diagnostic odds ratio (DOR), (c) reliability, and (d) stability and (e) benchmarking. Optimal results were achieved using 9 layers of CNN, with 4-fold augmentation. iDCNN yields superior performance compared to cDCNN with accuracy and AUC of 98.28 ± 1.55, 0.99 (p < 0.0001), and 97.19 ± 2.53%, 0.984 (p < 0.0001), respectively. DOR of iDCNN outperformed cDCNN fourfold. iDCNN also outperformed (a) transfer learning-based "Inception V3" paradigm by 11.92% and (b) four types of "conventional machine learning-based systems": k-NN, decision tree, support vector machine, and random forest by 55.13%, 28.36%, 15.35%, and 14.11%, respectively. The AI-based systems can potentially be useful in the early WD diagnosis. Graphical Abstract.