Disease Burden and Functional Outcomes in Congenital Myotonic Dystrophy: A Cross-Sectional Study (S43.008)
Bibliographic record
Abstract
OBJECTIVE: To describe a profile of congenital myotonic dystrophy throughout childhood and identify appropriate clinical endpoints for future therapeutic trials. BACKGROUND: Congenital myotonic dystrophy (CDM) is a severe, infantile-onset form of myotonic dystrophy (DM1). There have been few clinical studies evaluating the natural history of CDM during childhood. DESIGN/METHODS: Patients with CDM between 0-13 years of age were enrolled in this study. Patients and age matched controls were divided into age-based cohorts (0-2, 3-6, and 7-13 years). Each cohort received a 2-day clinical evaluation including: neuropsychological testing, oral facial strength, motor strength and function, DEXA, ECG, and measurements of quality-of-life and disease burden. Subjects were evaluated over a two-day period. All statistical analyses were pairwise comparisons with a p-value less than 0.001 reported as significant. RESULTS: We recruited 41 subjects with CDM and 29 control subjects were recruited. In CDM patients, the mean IQ (65.8; SD 18.4) was three standard deviations below the mean compared to standardized norms. For oral facial strength, the mean lip force strength was significantly different in CDM patients (2.1 Newtons (SD 2.8)) compared to control subjects (17.8 Newtons (SD 7.6)). The six-minute walk was significantly different between CDM subjects (258.3 meters (SD 176.0)) and control subjects (568.2 meters (SD 73.2)). Measurements of grip strength, sleep quality, and quality-of-life were also significantly different. Right arm lean body mass correlated with measures of grip (r=.91) and pinch (r=0.82), while right leg lean body mass correlated with the 6MWT (r=0.62). Strength measures (oral facial strength, grip strength, and 6-minute walk) correlated with each other but not with participant IQ. CONCLUSIONS: This work comprehensively identifies the changes associated with CDM during childhood. Several measures were significantly different between CDM and control subjects and may be useful during future therapeutic trials. Study support: NINDS (1K23NS091511-01) and The Muscular Dystrophy Association
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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 | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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 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".