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Intakte Gelenke sind eine Voraussetzung für das Funktionieren des Skeletts und die Mobilität im Lebensalltag. Ein gesunder Bewegungsapparat ist die Grundlage für die Funktionsfähigkeit des Herz-Kreislauf-Systems wie auch der Immunabwehr. Bewegungs- und Physiotherapie sowie verschiedene Formen der Patientenaktivität stellen essenzielle klinische Ansätze in der Behandlung von neurodegenerativen Erkrankungen, Schlaganfall, Diabetes und Krebs dar. Kommt es zu degenerativen Veränderungen von Gelenken, bedeutet dies eine wesentliche Beeinträchtigung der Mobilität. Nächtliche Schmerzen und Schlafstörungen treten in fortgeschrittenen Stadien auf und sind besonders belastend. Arthrose wird auch als degenerative Gelenkerkrankung bezeichnet. Sie geht mit Veränderungen in der Struktur und Zusammensetzung des Gelenkknorpels wie auch des verkalkten Knorpels, der subchondralen Kortikalis, der subchondralen Spongiosa, des Meniskus, der Gelenkkapsel und der Synovialis einher, was schließlich zur Degeneration dieser Gewebe führt, aus denen sich die Synovialgelenke zusammensetzen.
Intact joints are necessary for skeletal function and mobility in daily life. A healthy musculoskeletal system is the basis for a functional cardiovascular
system as well as an intact immune system. Locomotion, physiotherapy, and various forms of patient activity are essential clinical therapies used in the treatment of neurodegeneration, stroke, diabetes, and cancer. Mobility is substantially impaired with degeneration of joints and, in advanced stages, nighttime pain and sleep disturbance are particularly cumbersome.
Osteoarthritis (OA) is also known as degenerative joint disease. OA involves structural and compositional changes in the articular cartilage, as well as in the calcified cartilage, subchondral cortical bone, subchondral cancellous bone, meniscus, joint capsular tissue, and synovium; which eventually lead to degeneration of these tissues comprising synovial joints.
5q-spinal muscular atrophy (SMA) is a neuromuscular disorder (NMD) that has become one of the first 5% treatable rare diseases. The efficacy of new SMA therapies is creating a dynamic SMA patient landscape, where disease progression and scoliosis development play a central role, however, remain difficult to anticipate. New approaches to anticipate disease progression and associated sequelae will be needed to continuously provide these patients the best standard of care. Here we developed an interpretable machine learning (ML) model that can function as an assistive tool in the anticipation of SMA-associated scoliosis based on disease progression markers. We collected longitudinal data from 86 genetically confirmed SMA patients. We selected six features routinely assessed over time to train a random forest classifier. The model achieved a mean accuracy of 0.77 (SD 0.2) and an average ROC AUC of 0.85 (SD 0.17). For class 1 ‘scoliosis’ the average precision was 0.84 (SD 0.11), recall 0.89 (SD 0.22), F1-score of 0.85 (SD 0.17), respectively. Our trained model could predict scoliosis using selected disease progression markers and was consistent with the radiological measurements. During post validation, the model could predict scoliosis in patients who were unseen during training. We also demonstrate that rare disease data sets can be wrangled to build predictive ML models. Interpretable ML models can function as assistive tools in a changing disease landscape and have the potential to democratize expertise that is otherwise clustered at specialized centers.
