Impact of diabetes in the Friedreich ataxia clinical outcome measures study
Bibliographic record
Abstract
Abstract Objective Friedreich ataxia ( FA ) is a progressive neuromuscular disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene. FA is associated with increased risk of diabetes mellitus ( DM ). This study assessed the age‐specific prevalence of FA ‐associated DM and its impact on neurologic outcomes. Research Design and Methods Participants were 811 individuals with FA from 12 international sites in a prospective natural history study ( FA Clinical Outcome Measures Study, FACOMS ). Physical function was assessed, using validated instruments. Multivariable regression analyses examined the independent association of DM with outcomes. Results Mean age of participants was 30.1 years ( SD 15.3, range: 7–82), 50% were female, and 94% were non‐Hispanic white. 9% (42/459) of adults and 3% (10/352) of children had DM . Individuals with FA ‐associated DM were older ( P < 0.001), had longer GAA repeat length on the least affected FXN allele ( P = 0.037), and more severe FA ( P = 0.0001). Of individuals with DM , 65% (34/52) were taking insulin. Even after accounting statistically for both age and GAA repeat length, DM was independently associated with greater FA symptom burden ( P = 0.010), reduced capacity to perform activities of daily living ( P = 0.021), and a decrease of 0.33 SD s on a composite performance measure (95% CI : −0.56–0.11, P = 0.004); the relative impact of DM was most apparent in younger individuals. Conclusions DM ‐associated FA has an independent adverse impact on well‐being in affected individuals, particularly at younger ages. In future, evidence‐based approaches for identification and management of FA ‐related DM may improve both health and function.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.006 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
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".