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Record W2922012840 · doi:10.1002/mds.27653

Huntington's disease in the United States: Variation by demographic and socioeconomic factors

2019· article· en· W2922012840 on OpenAlexfundno aff
Emilie Bruzelius, Joseph R. Scarpa, Yiyi Zhao, Sanjay Basu, James H. Faghmous, Aaron Baum

Bibliographic record

VenueMovement Disorders · 2019
Typearticle
Languageen
FieldNeuroscience
TopicGenetic Neurodegenerative Diseases
Canadian institutionsnot available
FundersNational Human Genome Research InstituteNational Institute of Mental HealthDirectorate for Computer and Information Science and EngineeringNational Institute on Minority Health and Health DisparitiesRare Disease Foundation
KeywordsDemographyEpidemiologyHuntington's diseaseConfidence intervalSocioeconomic statusMedicineDiseasePopulationEthnic groupIncidence (geometry)Cohort studyNational Health Interview SurveyGerontologyInternal medicine

Abstract

fetched live from OpenAlex

BACKGROUND: Despite extensive research regarding the etiology of Huntington's disease, relatively little is known about the epidemiology of this rare disorder, particularly in the United States where there are no national-scale estimates of the disease. OBJECTIVES: To provide national-scale estimates of Huntington's disease in a U.S. population and to test whether disease rates are increasing, and whether frequency varies by race, ethnicity, or other factors. METHODS: Using an insurance database of over 67 million enrollees, we retrospectively identified a cohort of 3,707 individuals diagnosed with Huntington's disease between 2003 and 2016. We estimated annual incidence, annual diagnostic frequency, and tested for trends over time and differences in diagnostic frequency by sociodemographic characteristics. RESULTS: During the observation period, the age-adjusted cumulative incidence rate was1.22 per 100,000 persons (95% confidence interval: 1.53, 1.65), and age-adjusted diagnostic frequency was 6.52 per 100,000 persons (95% confidence interval: 5.31, 5.66); both rates remained relatively stable over the 14-year period. We identified several previously unreported differences in Huntington's disease frequency by self-reported sex, income, and race/ethnicity. However, racial/ethnic differences were of lower magnitude than have previously been reported in other country-level studies. CONCLUSIONS: In these large-scale estimates of U.S. Huntington's disease epidemiology, we found stable disease frequency rates that varied by several sociodemographic factors. These findings suggest that disease patterns may be more driven by social or environmental factors than has previously been appreciated. Results further demonstrate the potential utility of administrative Big Data in rare disease epidemiology when other data sources are unavailable. © 2019 International Parkinson and Movement Disorder Society.

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)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.016
Threshold uncertainty score0.466

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
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 integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.009
GPT teacher head0.224
Teacher spread0.215 · 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.

The models applied no category: nothing in the taxonomy fit this work.
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

Citations79
Published2019
Admission routes1
Has abstractyes

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