FACTORS ASSOCIATED WITH HEALTH-RELATED QUALITY OF LIFE IN CHILDREN WITH CONGENITAL MYOTONIC DYSTROPHY
Bibliographic record
Abstract
BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder that results from a CTG trinucleotide repeat in the DMPK gene. Congenital myotonic dystrophy (CDM) is the most severe form of DM1, and patients with CDM are reported to have reduced health-related quality of life (HRQoL). However, the relationship between disease manifestations in CDM and HRQoL has not been well-characterized. Most studies assessing HRQoL have focused on adult-onset DM1, showing that excessive daytime sleepiness, fatigue, cognitive deficits, and muscle weakness negatively impact HRQoL. OBJECTIVES: The objective of this study was to evaluate the relationship between HRQoL and neuropsychological function, physical capacity, comorbidities, and disease severity in children with CDM. DESIGN/METHODS: Children with CDM aged 0-13 years were enrolled at two sites. PedsQL Generic Core Scales and Neuromuscular Module Parent Proxy-Reports were used to measure HRQoL. Neuropsychological function was assessed using Pediatric Daytime Sleepiness Scale, Social Communication Questionnaire, Vineland Adaptive Functioning Scale, and Wechsler Intelligence Scale for Children or Wechsler Preschool and Primary Scale of Intelligence. The Six-Minute Walk Test (6MWT) Z-score was used as a measure of physical capacity. CTG repeats, a measure of disease severity, and comorbidities were retrieved from patient histories. Correlations between patient characteristics and HRQoL were computed with the Spearman correlation coefficient in Stata 13.0. RESULTS: Forty-eight participants with CDM were enrolled: 24 females and 24 males with an average age of 6.5 years (SD 3.4). Greater daytime sleepiness was significantly associated with poor overall HRQoL determined by generic (=-0.41, P=0.007) and neuromuscular (=-0.40, P=0.01) measures, as well as psychosocial HRQoL (=-0.46, P=0.002). Higher adaptive functioning (Vineland subscales) was significantly associated with better HRQoL determined by the neuromuscular module: communication (=0.39, P=0.03), daily living skills (=0.54, P=0.002), and socialization (=0.52, P=0.005). Higher physical capacity, determined by 6MWT Z-score, was associated with better physical (=0.37, P=0.04) but not overall HRQoL. An increased number of comorbidities was associated with poor overall HRQoL determined by generic (=-0.40, P=0.009) and neuromuscular (=-0.32, P=0.05) measures. CTG repeats did not correlate with HRQoL. CONCLUSION: This study has identified several factors that are associated with HRQoL in children with CDM. Daytime sleepiness, adaptive functioning, and higher comorbidities had the most pronounced effect on HRQoL. These may be promising factors to target in treatment plans.
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| 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".