Exploring the clinical features of narcolepsy type 1 versus narcolepsy type 2 from European Narcolepsy Network database with machine learning.

Journal: Scientific reports
PMID:

Abstract

Narcolepsy is a rare life-long disease that exists in two forms, narcolepsy type-1 (NT1) or type-2 (NT2), but only NT1 is accepted as clearly defined entity. Both types of narcolepsies belong to the group of central hypersomnias (CH), a spectrum of poorly defined diseases with excessive daytime sleepiness as a core feature. Due to the considerable overlap of symptoms and the rarity of the diseases, it is difficult to identify distinct phenotypes of CH. Machine learning (ML) can help to identify phenotypes as it learns to recognize clinical features invisible for humans. Here we apply ML to data from the huge European Narcolepsy Network (EU-NN) that contains hundreds of mixed features of narcolepsy making it difficult to analyze with classical statistics. Stochastic gradient boosting, a supervised learning model with built-in feature selection, results in high performances in testing set. While cataplexy features are recognized as the most influential predictors, machine find additional features, e.g. mean rapid-eye-movement sleep latency of multiple sleep latency test contributes to classify NT1 and NT2 as confirmed by classical statistical analysis. Our results suggest ML can identify features of CH on machine scale from complex databases, thus providing 'ideas' and promising candidates for future diagnostic classifications.

Authors

  • Zhongxing Zhang
    Center for Sleep Medicine, Sleep Research and Epileptology, Klinik Barmelweid AG, Barmelweid, Switzerland.
  • Geert Mayer
    Neurology Department, Hephata Klinik, Schwalmstadt, Germany.
  • Yves Dauvilliers
    Centre de Reference Nationale Maladies Rares, Narcolepsie et Hypersomnie Idiopathique, Service Neurologie, Hôpital Gui-de-Chauliac, INSERM U1061, Montpellier, France.
  • Giuseppe Plazzi
    Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
  • Fabio Pizza
    Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
  • Rolf Fronczek
    Department of Neurology and Clinical Neurophysiology, Leiden University Medical Center, Leiden, The Netherlands.
  • Joan Santamaria
    Neurology Service, Multidisciplinary Sleep Unit, Hospital Clínic of Barcelona, IDIBAPS, CIBERNED, Barcelona, Spain.
  • Markku Partinen
    Helsinki Sleep Clinic, Vitalmed Research Centre, Helsinki, Finland; Department of Neurological Sciences, University of Helsinki, Helsinki, Finland.
  • Sebastiaan Overeem
    Sleep Medicine Center Kempenhaeghe, Heeze, The Netherlands.
  • Rosa Peraita-Adrados
    Sleep and Epilepsy Unit, Clinical Neurophysiology Department, Gregorio Marañón University Hospital, Complutense University of Madrid (UCM), Madrid, Spain.
  • Antonio Martins da Silva
    Serviço de Neurofisiologia, Hospital Santo António/Centro Hospitalar do Porto and Instituto Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.
  • Karel Sonka
    Neurology Department and Centre of Clinical Neurosciences, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Rafael Del Rio-Villegas
    Unidad de Neurofisiología y Trastornos del Sueño. Hospital Vithas Internacional Madrid, Madrid, Spain.
  • Raphael Heinzer
    Center for Investigation and Research in Sleep, Lausanne University Hospital, Lausanne, Switzerland.
  • Aleksandra Wierzbicka
    Department of Clinical Neurophysiology, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Peter Young
    Department of Sleep Medicine and Neuromuscular Disorders, University of Münster, Münster, Germany.
  • Birgit Högl
    Neurology Department, Sleep Disorders Clinic, Medical University of Innsbruck, Innsbruck, Austria.
  • Claudio L Bassetti
    Department of Neurology, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland.
  • Mauro Manconi
    Sleep and Epilepsy Center, Neurocenter of Southern Switzerland, Lugano, Switzerland.
  • Eva Feketeova
    Neurology Department, Medical Faculty of P. J. Safarik University, University Hospital of L. Pasteur Kosice, Kosice, Slovak Republic.
  • Johannes Mathis
    Department of Neurology, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland.
  • Teresa Paiva
    Institute of Molecular Medicine Portugal, Medical Faculty Lisbon University, Lisbon, Portugal.
  • Francesca Canellas
    Fundació Institut d'Investigació Sanitària Illes Balears (IdISBa), Hospital Universitari Son Espases, Palma de Mallorca, Spain.
  • Michel Lecendreux
    AP-HP, Pediatric Sleep Center, CHU Robert-Debré, Paris, France.
  • Christian R Baumann
    Neurology Department, University Hospital Zurich, Zurich, Switzerland.
  • Lucie Barateau
    Centre de Reference Nationale Maladies Rares, Narcolepsie et Hypersomnie Idiopathique, Service Neurologie, Hôpital Gui-de-Chauliac, INSERM U1061, Montpellier, France.
  • Carole Pesenti
    Centre de Reference Nationale Maladies Rares, Narcolepsie et Hypersomnie Idiopathique, Service Neurologie, Hôpital Gui-de-Chauliac, INSERM U1061, Montpellier, France.
  • Elena Antelmi
    Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
  • Carles Gaig
    Neurology Service, Multidisciplinary Sleep Unit, Hospital Clínic of Barcelona, IDIBAPS, CIBERNED, Barcelona, Spain.
  • Alex Iranzo
    Neurology Service, Multidisciplinary Sleep Unit, Hospital Clínic of Barcelona, IDIBAPS, CIBERNED, Barcelona, Spain.
  • Laura Lillo-Triguero
    Sleep and Epilepsy Unit, Clinical Neurophysiology Department, Gregorio Marañón University Hospital, Complutense University of Madrid (UCM), Madrid, Spain.
  • Pablo Medrano-Martínez
    Sleep and Epilepsy Unit, Clinical Neurophysiology Department, Gregorio Marañón University Hospital, Complutense University of Madrid (UCM), Madrid, Spain.
  • José Haba-Rubio
    Center for Investigation and Research in Sleep, Lausanne University Hospital, Lausanne, Switzerland.
  • Corina Gorban
    Center for Sleep Medicine, Sleep Research and Epileptology, Klinik Barmelweid AG, Barmelweid, Switzerland.
  • Gianina Luca
    Centre Neuchatelois de Psychiatrie, Neuchatel, Switzerland.
  • Gert Jan Lammers
    Department of Neurology and Clinical Neurophysiology, Leiden University Medical Center, Leiden, The Netherlands.
  • Ramin Khatami
    Center for Sleep Medicine, Sleep Research and Epileptology, Klinik Barmelweid AG, Barmelweid, Switzerland. ramin.khatami@barmelweid.ch.