Vestibular and Balance Impairment Is Common in Children With Primary Ciliary Dyskinesia
Bibliographic record
Abstract
OBJECTIVE: Primary ciliary dyskinesia (PCD) is a rare genetic disorder that presents with a wide range of respiratory complaints. The most common otologic associated disorder is middle ear effusion. We ask if children with PCD suffer from vestibular impairment. STUDY DESIGN: Cross-sectional cohort study. SETTING: Tertiary pediatric referral hospital. PATIENTS/PARTICIPANTS: Children with confirmed PCD. INTERVENTION/METHODS: All included participants were clinically assessed to be at baseline then basic demographics and medical histories were collected, including the specific genetic mutation these patients have. After which, all patients underwent two vestibular tests. The first was to assess their ability to stand on one foot with their eyes open and then with their eyes closed and the second was video head impulse test (vHIT). MAIN OUTCOME MEASURES: Ability standing on one foot with the eyes closed and vHIT. RESULTS: During this period, 25 children with PCD were recruited for the study. The mean age at recruitment was 11.26 years (4-18 yr). There were 11 women and 14 men. All patients were able to participate in both tests. Nineteen participants (76%) had vestibular impairment. Fifteen of them failed to stand on one foot with their eyes closed and six of 25 had abnormal vHIT. The most common involved gene was DNAH5 8/25 (32%) and it was associated with vestibular impairment in seven of eight participants (87.5%). CONCLUSION: The majority of children with PCD that we tested suffered from vestibular impairment that was previously undiagnosed. This potentially indicates that imbalance and vestibular pathology is under-diagnosed in children with PCD.
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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 | 0.000 | 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 | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 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".