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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Implementation of a screening tool for primary ciliary dyskinesia (PCD) in a pediatric otolaryngology clinic
Steven K Brennan1, David Molter2, Maithilee Menezes2
1Department of Pediatrics, Division of Allergy and Pulmonary Medicine, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8116 St Louis, MO 63110, USA.
Insights
A simple four-question screening tool can help identify children with chronic upper respiratory issues who may need further evaluation for primary ciliary dyskinesia (PCD) or immunodeficiency. This aids early detection in otolaryngology clinics.
Area of Science:
- Pediatric Otolaryngology
- Rare Genetic Diseases
- Respiratory Medicine
Background:
- Primary ciliary dyskinesia (PCD) causes chronic respiratory infections due to motile ciliary dysfunction.
- PCD symptoms overlap with other respiratory conditions, complicating diagnosis in children.
- Early identification of potential PCD cases is crucial, especially in pediatric otolaryngology settings.
Purpose of the Study:
- To evaluate a simple, four-question screening tool for detecting PCD in children with chronic otitis media and rhinosinusitis.
- To assess the utility of this tool in a tertiary care otolaryngology clinic setting.
Main Methods:
- A prospective observational study involved 62 children (3-17 years) with chronic otitis media or rhinosinusitis.
- Participants completed a questionnaire and underwent nasal nitric oxide measurements.
- Subjects with specific clinical features for PCD were compared to controls.
Main Results:
- No significant differences in demographics or nasal nitric oxide levels were found between study and control groups.
- Four referrals for further evaluation were made based on screening and nitric oxide results.
- While no new PCD cases were identified, some patients were referred for immunologic evaluation.
Conclusions:
- Standardized screening questions are effective in otolaryngology clinics for identifying patients needing further PCD or primary immunodeficiency evaluation.
- This tool can assist in the early detection of complex respiratory and immune conditions in children.
Background:
Primary ciliary dyskinesia (PCD) is a rare genetic disease arising from motile ciliary dysfunction and associated with recurrent and chronic upper and lower respiratory tract infections. Pediatric otolaryngologists may see these patients prior to the development of lung disease. Features of PCD may overlap with other suppurative respiratory diseases, creating diagnostic challenges. A simple screening tool would be beneficial to identify potential patients who have chronic upper respiratory tract disease requiring further specialist evaluation.
Objective:
To test a simple screening tool consisting of four questions to detect PCD in children with chronic otitis media and chronic rhinosinusitis seen in a tertiary otolaryngology clinic.
Methods:
A prospective, single site, observational study in a tertiary care pediatric otolaryngology clinic. Children aged 3-17 years diagnosed with chronic otitis media or rhinosinusitis with onset at less than 2 years of age were recruited. All study subjects had at least one of four key clinical features for PCD as determined by answers to screening questions, while control subjects had none. All participants completed a medical history questionnaire and nasal nitric oxide measurements. Those with reduced nasal nitric oxide levels were referred to our PCD center for further evaluation.
Results:
A total of 153 patients were screened and 62 subjects were enrolled. Of those, 35 were enrolled as study subjects and 27 as matched controls. Study subjects had mean age of 7.5 years (3.2-16.5) with pre-screening diagnosis of chronic otitis media (n = 29) or chronic rhinosinusitis (n = 6). Control subjects (n = 27) had mean age 7.2 years (3.0-16.3) with pre-screening diagnosis of chronic otitis media (n = 25), and chronic rhinosinusitis (n = 2). There were no differences in subject demographics or mean nasal nitric oxide values between the two groups (179.8 vs 210.8 nl/min). Ten individuals had low nasal nitric oxide values, 7 of which were normal on repeat testing. Three subjects failed to return for follow up evaluations. Four referrals were made for further evaluation on the basis of clinical symptoms and nasal nitric oxide results. While no new cases of PCD were detected, a subject and his sibling with recurrent sinopulmonary infections were referred for immunologic evaluation.
Conclusion:
The use of standardized screening questions can be used in an otolaryngology clinic to identify patients who require further evaluation for PCD or primary immunodeficiency.
