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  3. Machine Learning for Diagnosis and Differentiation of Central Disorders of Hypersomnolence: A Systematic Review.
 

Machine Learning for Diagnosis and Differentiation of Central Disorders of Hypersomnolence: A Systematic Review.

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BORIS DOI
10.48620/98489
Publisher DOI
10.1111/ene.70661
PubMed ID
42237746
Description
Background And Purpose
Central disorders of hypersomnolence (CDH) are, except for Narcolepsy Type 1 (NT1), difficult to diagnose and manage because of overlapping features and the lack of reliable biomarkers. Machine learning (ML) has the potential to improve diagnosis by detecting subtle physiological patterns and distinguishing between CDH subtypes. This review systematically explores current ML applications in CDH, assesses their limitations, and suggests future directions.Methods
Following PRISMA guidelines, MEDLINE, Embase, PsycINFO, IEEE Xplore, CINAHL, Web of Science, and Google Scholar (up to June 2025) were searched for studies using ML to classify or characterize CDH in adults. ML methods, data types, and diagnostic outcomes were extracted and analyzed.Results
Out of 3274 studies, 41 met the inclusion criteria (37 peer-reviewed articles and 4 preprints). Data sources included neuroimaging (fMRI, PET), sleep assessments (MSLT, polysomnography), demographics, and standardized questionnaires. Supervised ML reliably identified known features, including early REM onset, hypocretin deficiency, and spectral EEG changes, showing strong performance for NT1 but limited generalizability across other CDH subtypes. Although many studies reported high accuracy, clinical relevance was often limited by rigid diagnostic labels that may not reflect the true complexity of CDH. Unsupervised learning uncovered heterogeneous phenotypes and exposed limitations in existing diagnostic labels.Conclusion
ML has the potential to improve CDH diagnosis. Deep learning models are promising for feature extraction; however, their black-box nature and high data requirements hinder clinical application. Future advancements depend on large, diverse datasets, multimodal and longitudinal data, and close collaboration between clinicians and data scientists.
Date of Publication
2026-06
Publication Type
Article
Subject(s)
600 Technology > 610 Medicine & health
Keyword(s)
MSLT
•
central disorders of hypersomnolence
•
deep learning
•
idiopathic hypersomnia
•
machine learning
•
narcolepsy
•
narcolepsy borderland
•
polysomnography
•
sleep EEG
Language(s)
en
Contributor(s)
Helmy, Annina
Clinic of Neurology
Graduate School for Cellular and Biomedical Sciences (GCB)
Fregolente, Livia G.
Clinic of Neurology
Graduate School for Health Sciences (GHS)
von Gernler, Marc
University Library Bern, Medical Library
Morand, Rafael
Universitätsklinik für Neurologie - SWEZ
Graduate School for Cellular and Biomedical Sciences (GCB)
van der Meer, Julia
Clinic of Neurology
Schmidt, Markus
Department for BioMedical Research, Forschungsgruppe Neurologie
Clinic of Neurology
Mougiakakou, Stavroula
ARTORG Center for Biomedical Engineering Research
ARTORG Center - Artificial Intelligence in Health and Nutrition
Tzovara, Athinaorcid-logo
Institute of Computer Science
Clinic of Neurology
Bassetti, Claudio L. A.
Dean's Office of the Faculty of Medicine
Clinic of Neurology
Additional Credits
University Library Bern, Medical Library
ARTORG Center for Biomedical Engineering Research
Graduate School for Health Sciences (GHS)
Clinic of Neurology
Dean's Office of the Faculty of Medicine
Graduate School for Cellular and Biomedical Sciences (GCB)
Universitätsklinik für Neurologie - SWEZ
Institute of Computer Science
ARTORG Center - Artificial Intelligence in Health and Nutrition
Department for BioMedical Research, Forschungsgruppe Neurologie
Series
European Journal of Neurology
Publisher
Wiley
ISSN
1468-1331
1351-5101
Access(Rights)
open.access
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