Accuracy of the American Thoracic Society (ATS) Guideline for Diagnosing Adults With Primary Ciliary Dyskinesia
Bibliographic record
Abstract
Abstract Rationale: Primary ciliary dyskinesia (PCD) is a heterogenous disease that is difficult to diagnose. American Thoracic Society (ATS) guidelines recommend PCD testing with an appropriate phenotype of ≥2 of 4 key clinical symptoms (year-round wet cough or nasal congestion appearing before 6 months old, neonatal respiratory distress at term birth, an organ laterality defect), using nasal nitric oxide (nNO) measurement and genetic testing, with ciliary electron microscopy (EM) as needed. Accuracy of this approach has not been robustly explored in adults. Methods: This retrospective analysis explores patients ≥18 years old, referred for possible PCD to the McGill University Health Center between 2013 and 2024. All performed nNO measurement per PCD Foundation protocol. Key clinical symptoms were systematically collected but modified for year-round wet cough or nasal congestion “since early childhood”. Additional PCD-related symptoms relevant in adults were also systematically collected. Those with ≥2 key clinical symptoms or low nNO (<77 nL/min) underwent PCD genetic and EM testing. Participants were classified per final diagnosis, including: 1. Definitive PCD with disease-causing genetic variants or classic EM defect, 2. Probable PCD with low nNO but inconclusive genetics/EM and no alternative diagnosis, 3. Unlikely PCD with normal nNO, an alternative diagnosis, and negative genetics/EM, when performed. Results: Of 158 referred adults, 57 (36%) displayed ≥2 key clinical symptoms while 45 (28%) had low nNO values. However, 29 (18%) participants could not recall their neonatal histories. Genetic or EM testing was performed in 82 (52%) and 48 (30%) patients, respectively. Overall, 41 (26%) had definitive PCD (88% through genetics, 12% through EM), 6 (3%) had probable PCD, and 111 (70%) had unlikely PCD. Low nNO was seen in 36 (88%) of definite PCD versus 3 (3%) with unlikely PCD. Prevalence of key clinical symptoms and additional PCD-related symptoms relevant to adults differed significantly between diagnostic groups. [Table 1] Conclusion: The ATS guidelines have a high diagnostic yield in adults when modifying key clinical criteria to include wet cough or nasal congestion since early childhood. However, many adult patients cannot recall their neonatal histories, possibly decreasing accuracy. Several additional PCD-related symptoms seem helpful in adult diagnosis.
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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 | 0.011 | 0.049 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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".