The burden of disease for children diagnosed with Klinefelter syndrome – a European cohort
Bibliographic record
Abstract
Abstract Background Klinefelter syndrome is a congenital chromosomal anomaly, where males have an extra X-chromosome. The syndrome may be associated with hypergonadotropic hypogonadism and many are late or undiagnosed. This European, population-based data-linkage cohort study was part of the EUROlinkCAT project and investigated the burden of disease for the first ten years of life for European children diagnosed with Klinefelter syndrome. Results Thirteen national and regional population-based registries in ten countries from the European surveillance of congenital anomalies (EUROCAT) network participated. Data for live born children born in 1995-2014 and diagnosed with Klinefelter syndrome prenatally or during infancy were linked to mortality and hospital records. Data for liveborn children born with any congenital anomaly and children without a congenital anomaly (reference children) were included for comparison on morbidity. Out of 5.8 million live born children 278 were diagnosed with Klinefelter syndrome in the 13 registry areas, 96.8% survived the first 5 year of life, 64.7% (95% CI 51.8;75.0) were admitted to hospital during the first year with a median length of stay of 3.9 (95% CI 3.0;4.7) days, 10.8% (95% CI 6.9;16.4) had a hospital stay of ≥10 days and 12.3% (95% CI 7.1;18.9) underwent surgery. In the age group 1-4 years of age 53.5% (95% CI 41.2;64.4) were admitted to hospital, the median length of stay decreased to 0.7 (95% CI 0.3;1.1) days and 6.3% (95% CI 2.6;12.3) had a hospital stay of ≥ 10 days. Conclusions More children diagnosed prenatally or in infancy with Klinefelter syndrome were hospitalised and underwent more surgery compared to reference children, while less were hospitalised and fewer had surgery than all children with any other congenital anomaly. Thus, the burden of disease was increased for children diagnosed prenatally or in infancy with Klinefelter syndrome but decreased overall after the first year of life.
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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) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 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".