Optimizing Rare Disease Gait Classification through Data Balancing and Generative AI: Insights from Hereditary Cerebellar Ataxia.

Journal: Sensors (Basel, Switzerland)
PMID:

Abstract

The interpretability of gait analysis studies in people with rare diseases, such as those with primary hereditary cerebellar ataxia (pwCA), is frequently limited by the small sample sizes and unbalanced datasets. The purpose of this study was to assess the effectiveness of data balancing and generative artificial intelligence (AI) algorithms in generating synthetic data reflecting the actual gait abnormalities of pwCA. Gait data of 30 pwCA (age: 51.6 ± 12.2 years; 13 females, 17 males) and 100 healthy subjects (age: 57.1 ± 10.4; 60 females, 40 males) were collected at the lumbar level with an inertial measurement unit. Subsampling, oversampling, synthetic minority oversampling, generative adversarial networks, and conditional tabular generative adversarial networks (ctGAN) were applied to generate datasets to be input to a random forest classifier. Consistency and explainability metrics were also calculated to assess the coherence of the generated dataset with known gait abnormalities of pwCA. ctGAN significantly improved the classification performance compared with the original dataset and traditional data augmentation methods. ctGAN are effective methods for balancing tabular datasets from populations with rare diseases, owing to their ability to improve diagnostic models with consistent explainability.

Authors

  • Dante Trabassi
    Department of Medical and Surgical Sciences and Biotechnologies, "Sapienza" University of Rome, 04100 Latina, Italy.
  • Stefano Filippo Castiglia
    Department of Medico-Surgical Sciences and Biotechnologies, University of Rome Sapienza, Latina, Italy.
  • Fabiano Bini
    Department of Mechanical and Aerospace Engineering, Sapienza University of Rome, 00184 Rome, Italy.
  • Franco Marinozzi
    Department of Mechanical and Aerospace Engineering, Sapienza University of Rome, 00184 Rome, Italy.
  • Arash Ajoudani
  • Marta Lorenzini
    Department of Advanced Robotics, Italian Institute of Technology, 16163 Genoa, Italy.
  • Giorgia Chini
    INAIL, DiMEILA, Monte Porzio Catone (RM), Italy.
  • Tiwana Varrecchia
    Department of Occupational and Environmental Medicine, Epidemiology and Hygiene, INAIL, Monte Porzio Catone Rome, Rome, Italy.
  • Alberto Ranavolo
    Department of Occupational and Environmental Medicine, Epidemiology and Hygiene, INAIL, Monte Porzio Catone Rome, Rome, Italy.
  • Roberto De Icco
    Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
  • Carlo Casali
    Department of Medical and Surgical Sciences and Biotechnologies, "Sapienza" University of Rome, 04100 Latina, Italy.
  • Mariano Serrao
    Department of Medico-Surgical Sciences and Biotechnologies, University of Rome Sapienza, Latina, Italy.