Variations in the Management of Canadian Patients With CFTR Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID)
Bibliographic record
Abstract
BACKGROUND: With routine newborn screening for cystic fibrosis (CF) now considered standard of care, the designation of CFTR Related Metabolic Syndrome (CRMS) or CF screen positive, indeterminate diagnosis (CFSPID) has been established. The majority of CRMS/CFSPID patients remain asymptomatic; however, 3.8%-44% of these patients may progress to a diagnosis of CF. This raises the question of how to optimally manage CRMS/CFSPID patients. We set out to gain a better understanding of the past practices employed at CF centers across Canada in the care of patients with a diagnosis of CRMS/CFSPID. METHODS: An invitation to participate in an online survey was disseminated to CF centers in Canada through the REDCap database. The survey was completed in 2018. It included questions addressing patient population, timing of follow-up of CRMS/CFSPID patients, and details around specific investigations ordered. RESULTS: Twelve out of 20 qualifying clinics completed the survey. The total patient population compiled included 1412 patients, of which 171 (12%) were classified as CRMS/CFSPID. There was wide variability in the timing of follow-up with a median (IQR) of 6 (5.25-12) months and a range of 3-12 months. There was also wide variability in the timing of repeat investigations such as sweat chloride, respiratory cultures, chest x-rays and spirometry. CONCLUSIONS: With current evidence showing that a considerable number of CRMS/CFSPID patients may progress to CF, ensuring these patients are identified as early as possible and followed in a consistent manner is essential. The Cystic Fibrosis Foundation and European Cystic Fibrosis Society have recently developed guidelines regarding the care of these patients. This survey describes historical practices for follow up of CRMS/CFSPID patients to help inform the development of Canadian consensus guidelines.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.004 |
| 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".