Cognitive and sleep evaluation of Myotonic dystrophy type I: A protocol for a case‐control study
Bibliographic record
Abstract
Abstract Background Myotonic dystrophy type 1 (DM1) is one of the most common inherited muscular dystrophies in adults. It is caused by CTG repeat expansions in the 3' untranslated region (UTR) of the DMPK gene on Chromosome 19. Apart from muscle, the disease can involve the eye, heart, brain and endocrine system. Cognitive and sleep disturbances are common but poorly recognized non‐motor manifestations of DM1. Method We plan to recruit 30 genetically proven DM1 patients from the prospective MRC‐funded International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) cohort. Neuromuscular phenotyping will be done by the same neuromuscular expert. The muscle strength will be assessed by the Medical Research Council scale and Muscular Impairment Rating Scale (MIRS). We will exclude patients with severe depression. An age and sex‐matched control group of 30 healthy participants will be included to evaluate patients’ cognitive profiles. A comprehensive neuropsychological evaluation (NPS) to assess multiple cognitive domains will be conducted on all patients. A prescheduled sleep history, Epworth Sleepiness Scale (ESS), Pittsburg sleep quality index (PSQI) and full‐night diagnostic polysomnography will be done in all patients. Result The outcomes include the NPS domains comparing cognitive impairment compared to controls and the severity and type of sleep apnea (apnea‐hypopnea index [AHI]) Conclusion The study will investigate the DM1 cognitive profile and its relationship with sleep disturbance using motor scales, neuropsychological assessment and polysomnography.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.023 | 0.015 |
| Meta-epidemiology (narrow) | 0.004 | 0.002 |
| Meta-epidemiology (broad) | 0.006 | 0.003 |
| Bibliometrics | 0.003 | 0.003 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.003 | 0.002 |
| Research integrity | 0.004 | 0.003 |
| Insufficient payload (model declined to judge) | 0.034 | 0.006 |
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 source (direct Gemma or distilled Codex), 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".