PERINATAL FINDINGS IN A CONGENITAL MYOTONIC DYSTROPHY COHORT
Bibliographic record
Abstract
BACKGROUND: Congenital Myotonic Dystrophy (CDM) is the harshest form of Myotonic Dystrophy type 1 (DM1,OMIM #160900). The mode of inheritance is autosomal dominant, and results from a microsatellite expansion in DMPK with an incidence of 2.1:1000,000 live births in Canada. The principal clinical signs during the neonatal period are myopathic facies, hypotonia and weakness resulting in such features as talipes equinovarus, nutritional, cardiac and respiratory problems. OBJECTIVES: To describe the main findings of CDM in the perinatal period. DESIGN/METHODS: A five year prospective cohort study from 2005 to 2010 of eligible incident cases of CDM was performed via the Canadian Pediatric Surveillance Program (CPSP). Reporting physicians completed a questionnaire with the medical history at birth and during the perinatal period. Our patients met the CDM criteria proposed by Campbell et al. (2013): 1) CDM symptoms with hospitalization greater of 72 hours; and 2) CTGrs above 200. RESULTS: We obtained 43 questionnaires, 22 female and 21 male (F:M ratio of 1.04:1). Average CTG repeat size (CGTrs) was 795.67 (250-2300). The main complication during the prenatal period was polyhydramnios (n=20). The majority of the patients (n=27) had full term pregnancy and with normal birth weight (n=25). Average Apgar was 4 at 1 (range 1-9), and 6 for 5 and 10. Intubation was required in 29/43 of the cases, with an average hospital stay of 43.5 days. Nutritional support (ie ng feeds) was required in 34/43, and it was longer than 14 days in 21 patients. Nine patients died, 6 of them due to respiratory failure. Four deaths were withdrawal of life support. CONCLUSION: The respiratory difficulties are well described as the principal complication in CDM (Ho et al. [2015]), but we found that the necessity of multiple nutritional interventions was the most frequent neonatal complication (79%), respiratory complications remains as the principal cause of death (66.6%). Zaki et al. (2010) describes a cohort with a 100% frequency of polyhydramnios, differing on ours where it is 46.5%. We conclude that CDM is not always evident prenatally by polyhydramnios, IUGR or preterm delivery. Nutritional and respiratory assessments should be prioritized, and nutritional interventions may extend for long periods of time. Despite high respiratory and feeding support needs, the majority of patients improved over time. Hence the importance of prenatal counseling and preparation for the complications in the neonatal period.
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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 | 0.002 |
| 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 | 0.001 | 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".