Differentiating central nervous system demyelinating disorders using Graph Attention Networks

Autoimmune demyelinating central nervous system (CNS) disorders encompass a wide array of clinical entities ranging from the organ specific Multiple Sclerosis (MS) to systemic autoimmune diseases (SADs) such as Systemic Lupus Erythematosus (SLE) and Sjogrens syndrome (SS). Despite international research efforts, distinction of these entities at clinical, imaging and laboratory level re-mains challenging, with almost 20% of patients being misdiagnosed with MS, out of which more than 50% carry the misdiagnosis for at least 3 years, while 5% are misdiagnosed for 20 years or more. This work aims to identify early biomarkers that can discriminate MS from other clinical entities that are MS mimickers. For this reason, we have meticulously curated a unique biobank with serum, DNA, RNA, and cerebrospinal fluid (CSF) samples from 396 treatment-naive patients who presented with a demyelinating episode and for which we have recorded over 300 clinical, serological, and imaging parameters. These patients have undergone follow up at 6 months and 12 months from their first de-myelinating episodes and have been categorised as follows: MS, SAD with CNS involvement, and demyelination with autoimmune features (DAF). A hybrid model for semi-supervised tabular classification is proposed that integrates a graph attention network with dynamic graph learning via Random Forest proximity and kNN graphs with tabular prior data fitted network for direct classification. The model also performed feature selection, self-supervised contrastive learning, self-training and data augmentation.