Data-driven techniques for translational neuroscience and personalized neuro-health
Authors: Vishal Subedi, Shashipraba N. K. Rajakaruna, Pratyusha Sarkar, Subhankar Chattoraj, Anjali Khasa, Siddhartha Nandy, Hamza Farooq, Animikh Biswas, Sanjay Chaudhuri, Asim K. Dey, Karuna Joshi, Christophe Lenglet, Ansu Chatterjee
Organizations: Department of Mathematics and Statistics, University of Maryland Baltimore County, Baltimore, Maryland, USA · Department of Mathematics and Statistics, Texas Tech University, Lubbock, Texas, USA · Department of Information Systems, University of Maryland Baltimore County, Baltimore, Maryland, USA · Center for Magnetic Resonance Research, Department of Radiology, University of Minnesota, Minneapolis, Minnesota, USA · Department of Statistics, University of Nebraska Lincoln, Lincoln, Nebraska, USA.
Neurodegenexrative diseases such as Alzheimer's disease and Parkinson's disease are diagnosed most reliably only after substantial, often irreversible, neuronal loss has already occurred, creating an urgent need for quantitative tools that can detect subtle, early, and individual-specific brain changes from neuroimaging data. This review surveys a broad and rapidly evolving toolkit of data-driven techniques for translational neuroscience and personalized neuro-health, organized around four complementary methodological pillars. Throughout, we emphasize how these methodologically diverse approaches converge on a common translational goal: personalized, mechanistically grounded, and clinically actionable models of individual brain health, and we close by discussing the principal open statistical, computational, and clinical challenges that remain.
Figures & tables
Notation/Acronym
Definition (expanded form)
Neuroscince related terms
ADHD
attention deficit hyperactivity disorder
AD
Alzheimer’s disease
ADNI
Alzheimer’s Disease Neuroimaging Initiative
ASD
autism spectrum disorder
dMRI
diffusion magnetic resonance imaging
Table 1: Some commonly used acronyms used in this paper. Some additional acronyms, that are less commonly used, are embedded in text as and when they arise.
Figure 1: An illustrative example of empirical likelihood-based inference in fMRI data. The left panel shows the masked region. The middle panel shows active voxels obtained using linear regression model in an axial slice, and the right panel is the its equivalent obtained using EL techniques.
Figure 2: Visualizations of the brain regions with absolute loading values greater than 0.05 for the first Bayesian covariate-assisted principal components, obtained using SSGP, GICA and SCFP parcellation techniques.
Figure 3: Illustration of the TDA steps for an MRI image.
\midrule Node type
ADNI instantiation
\midrule Subject
Participant, labelled CN / MCI / AD
Brain ROI
FreeSurfer-parcellated regions from T1 MRI (hippocampus, entorhinal cortex, posterior cingulate, precuneus)
Neuropsychiatric symptoms (NPS) such as depression and apathy are common in Alzheimer's disease (AD) and often precede cognitive decline. NPS assessments hold promise as early detection markers due to their correlation with disease progression and their non-invasive nature. Yet current tools cannot distinguish whether NPS are part of aging or early signs of AD, limiting their utility. We present a deep learning-based normative modelling framework to identify atypical NPS burden from structural MRI. A 3D convolutional neural network was trained on cognitively stable participants from the Alzheimer's Disease Neuroimaging Initiative, learning the mapping between brain anatomy and Neuropsychiatric Inventory Questionnaire (NPIQ) scores. Deviations between predicted and observed scores defined the Divergence from NPIQ scores (DNPI). Higher DNPI was associated with future AD conversion (adjusted OR=2.5; p < 0.01) and achieved predictive accuracy comparable to cerebrospinal fluid AB42 (AUC=0.74 vs 0.75). Our approach supports scalable, non-invasive strategies for early AD detection.
Synne Hjertager Osenbroch, Lisa Ramona Rosvold, Yao Lu +1
Department of Computer Science and Electrical Engineering, University of Stavanger, Norway. · Department of Computer Science, University of Putra Malaysia, Selangor, Malaysia. · SMIL, Department of Radiology, Stavanger University Hospital (SUS), Norway.
As two most prevalent neurodegenerative diseases (NDDs), Alzheimer's disease (AD) and Parkinson's disease (PD) shared commonalities both in symptomology and pathophysiology. However, to what extent and in what way these two distinct disorders overlap remain underexplored. In this study, we propose an explicit, interpretable and spatially adaptive transfer learning framework to elucidate the morphometric biomarkers linked to AD and PD. We applied such high-dimensional machine learning model to two most popular open-source neuroimaging datasets, i.e., Alzheimer's Disease Neuroimaging Initiative (ADNI) and Parkinson's Progression Markers Initiative (PPMI). On the one hand, our cross-disorder classifier revealed neuro-anatomical alteration patterns well aligning with previous neuroimaging research findings and underscoring patients' clinical presentations. On the other hand, the spatially adaptive trained classifier using shared prior achieved statistically superior diagnostic performance compared to respective individual models, which further highlights the cross-disorder framework's efficacy on modeling limited-size datasets across disease domains.
Yuji Zhao, Boris Gutman
Laboratory for Modeling and Computation in Imaging and Genetics (LAMCIG), Medical Imaging Research Center, Department of Biomedical Engineering, Illinois Institute of Technology, Chicago, Illinois, United States of America
Worldwide, millions of senior citizens are suffering from Alzheimer disease abbreviated as AD, a well- versed form of dementia. AD is featured by amnesia, intellectual disability, and difficulty with consciousness. DL and ML models are undoubtedly explored to identify AD related patterns on large dimensional neuroimaging data but they need global optimization and are suffering from overfitting issue that might yield dissatisfactory result in testing data set. DL overcomes the issue by convolution of input image with kernel but any sudden change in the MRI image or human manipulation, limited pre- processing of the images can mislead CNN in achieving highly accurate detection. Transfer Learning (TL) has proved itself in AD diagnosis by utilizing pre-trained models on large data sets to guide novice model in a new neuroimaging dataset. This review provides an inclusive glimpse of TL implication in classification, identification including the conversion of AD. Keeping in view, we have assessed the strengths and limitations of TL in improvising diagnostic accuracy even with limited data. The uniqueness of the present review is the incorporation of explainable AI in TL based AD diagnosis system. Finally, it can be claimed that the review will guide the new re-searchers in the area of TL induced neurodegenerative disease detection.
Soumik Podder, Chandramouli Haldar
Department of Basic Science and Humanities Institute of Engineering and Management (IEM), University of Engineering and Management Kolkata Kolkata, India · Department of Computer Science and Engineering Guru Nanak Institute of Technology Kolkata, India