Developmental Milestones and Quality of Life Assessment in a Congenital Myotonic Dystrophy Cohort
Bibliographic record
Abstract
BACKGROUND: Congenital myotonic dystrophy (CDM) is a neuromuscular disorder caused by a CTG triplet repeat expansion in the DMPK gene. In addition to the expected motor delay, affected children often have significant developmental disability in language and cognitive realms, which ultimately impacts on quality of life. OBJECTIVE: In a prospective cohort of children with CDM to 1) present the profile of language and motor developmental milestones, and 2) describe their early childhood health related quality of life (HRQOL). METHODS: A five year cohort study of eligible incident cases of CDM was performed via the Canadian Pediatric Surveillance Program (CPSP). Consenting subjects were then followed from infancy in a prospective cohort study. Caregivers were contacted every 3 months for the first year of life, and then twice yearly in order to obtain data concerning language skills, motor development and parent proxy HRQOL from the PedsQL and Infant and Toddler Quality of life (ITQOL) questionnaires. RESULTS: Milestones were achieved at later ages in patients when compared to healthy children. Girls appeared to be more delayed than boys in both language and motor skills. HRQOL scores remained stable in this cohort, for both the PedsQL and ITQOL. CONCLUSIONS: Understanding developmental milestones and quality of life are important parameters when judging a child's overall health. For CDM patients delineating developmental milestones and QOL have important clinical care and research implications.
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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 | 0.001 | 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) | 0.001 | 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".