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Record W4400324640 · doi:10.1038/s41591-024-03118-z

AI-based differential diagnosis of dementia etiologies on multimodal data

2024· article· en· W4400324640 on OpenAlexfundno aff
Chonghua Xue, Sahana S Kowshik, Diala Lteif, Shreyas Puducheri, Varuna Jasodanand, O. Zhou, Anika S. Walia, Osman Berke Güney, J. Diana Zhang, Artem Kaliaev, V. Carlota Andreu‐Arasa, Brigid Dwyer, Chad W. Farris, Honglin Hao, Sachin Kedar, Asim Mian, Daniel L. Murman, Sarah A. O’Shea, Aaron B. Paul, Saurabh Rohatgi, Marie Saint‐Hilaire, E. Alton Sartor, Bindu N. Setty, Juan E. Small, Arun Swaminathan, Olga Taraschenko, Jing Yuan, Yan Zhou, Shuhan Zhu, Cody Karjadi, Ting Fang Alvin Ang, Sarah Adel Bargal, Bryan A. Plummer, Kathleen L. Poston, Meysam Ahangaran, Rhoda Au, Vijaya B. Kolachalama

Bibliographic record

VenueNature Medicine · 2024
Typearticle
Languageen
FieldMedicine
TopicDementia and Cognitive Impairment Research
Canadian institutionsnot available
FundersNational Institute of Diabetes and Digestive and Kidney DiseasesServierNational Cancer InstituteNational Institutes of HealthGenentechNational Institute of Neurological Disorders and StrokeIXICONational Institute of General Medical SciencesH. Lundbeck A/SEisaiNorthern California Institute for Research and EducationNovartis Pharmaceuticals CorporationNational Heart, Lung, and Blood InstituteBioClinicaBiogenPfizerUniversity of Southern CaliforniaBristol-Myers SquibbEli Lilly and CompanyNational Center for Advancing Translational SciencesMeso Scale DiagnosticsNational Institute on AgingAlzheimer's AssociationCanadian Institutes of Health ResearchAmerican Heart Association
KeywordsDementiaEtiologyDifferential diagnosisMedicineDifferential (mechanical device)NeuroscienceBioinformaticsIntensive care medicineComputational biologyPathologyBiologyDiseaseEngineering

Abstract

fetched live from OpenAlex

Differential diagnosis of dementia remains a challenge in neurology due to symptom overlap across etiologies, yet it is crucial for formulating early, personalized management strategies. Here, we present an artificial intelligence (AI) model that harnesses a broad array of data, including demographics, individual and family medical history, medication use, neuropsychological assessments, functional evaluations and multimodal neuroimaging, to identify the etiologies contributing to dementia in individuals. The study, drawing on 51,269 participants across 9 independent, geographically diverse datasets, facilitated the identification of 10 distinct dementia etiologies. It aligns diagnoses with similar management strategies, ensuring robust predictions even with incomplete data. Our model achieved a microaveraged area under the receiver operating characteristic curve (AUROC) of 0.94 in classifying individuals with normal cognition, mild cognitive impairment and dementia. Also, the microaveraged AUROC was 0.96 in differentiating the dementia etiologies. Our model demonstrated proficiency in addressing mixed dementia cases, with a mean AUROC of 0.78 for two co-occurring pathologies. In a randomly selected subset of 100 cases, the AUROC of neurologist assessments augmented by our AI model exceeded neurologist-only evaluations by 26.25%. Furthermore, our model predictions aligned with biomarker evidence and its associations with different proteinopathies were substantiated through postmortem findings. Our framework has the potential to be integrated as a screening tool for dementia in clinical settings and drug trials. Further prospective studies are needed to confirm its ability to improve patient care.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesInsufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.286
Threshold uncertainty score0.998

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0030.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.034
GPT teacher head0.396
Teacher spread0.362 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations153
Published2024
Admission routes1
Has abstractyes

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