Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy
Bibliographic record
Abstract
BACKGROUND: Congenital myotonic dystrophy (CDM) is the neonatal onset and most severe presentation of Myotonic Dystrophy type 1. Since it first description, perinatal complications have been detailed including prolonged hospital stay, respiratory and feeding therapy during the neonatal period, although long-term complications are less documented. OBJECTIVE: Present a prospective cohort of CDM and compare it to the literature of other CDM case series, to adequately describe and contrast the prenatal, neonatal and infancy features of CDM. METHODS: A 5-year cohort of CDM eligible cases was conducted via the Canadian Pediatric Surveillance Program. 38 patients met the inclusion criteria. Comparison to other CDM case series published in the literature between 1992 and 2016 about perinatal and infancy morbidity. RESULT: From a total of 118 cases, the most frequent features were Polyhydramnios (58%), feeding therapy (77%), intubation and ventilation (58%); neonatal death was reported in 16% of the cases; the most frequent long-term morbidity were respiratory tract infections. CONCLUSIONS: We performed a detailed description of the main perinatal features of CDM and precise documentation of the mortality and morbidity during the first five years of life. This is an essential step in the knowledge of the natural history of CDM.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 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".