Related Experiment Video
Updated: Nov 1, 2025
Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic
Published on: November 7, 2020
Otolaryngology Manifestations of Primary Ciliary Dyskinesia: A Multicenter Study
Faisal Zawawi1,2,3, Adam J Shapiro4, Sharon Dell5
1Department of Otolaryngology-Head and Neck Surgery, McGill University, Montreal, Quebec, Canada.
Insights
Children with primary ciliary dyskinesia (PCD) experience more upper airway symptoms and worse quality of life. Early otolaryngology intervention is crucial for managing PCD complications and improving outcomes.
Area of Science:
- Otolaryngology
- Pediatric Health
- Genetics and Rare Diseases
Background:
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting mucociliary clearance.
- Otolaryngological manifestations are common in children with PCD, impacting their quality of life.
- Objective assessment of these manifestations and quality of life is needed for effective management.
Purpose of the Study:
- To prospectively assess otolaryngological manifestations in children with PCD.
- To evaluate the quality of life in children with PCD.
- To compare findings in PCD patients with healthy pediatric controls.
Main Methods:
- Cross-sectional study conducted at two high-volume pediatric PCD centers.
- Utilized standardized clinical assessments, including Sino-Nasal Outcome Test 22 (SNOT-22), HEAR-QL, and Reflux Symptom Index (RSI).
- Included physical examinations of sinonasal, laryngeal, and otological systems, plus audiograms and sinonasal cultures.
Main Results:
- Children with PCD exhibited significantly higher sinonasal and reflux symptoms (SNOT-22, RSI) and poorer quality of life (HEAR-QL) compared to controls.
- 52% of children with PCD-related hearing loss were unaware of their deficit; 23% with ventilation tubes had chronic otorrhea.
- All children with PCD had chronic rhinosinusitis, yet only 36% used topical nasal treatment; Staphylococcus aureus and Streptococcus pneumoniae were common pathogens.
Conclusions:
- This study underscores the critical role of otolaryngology in managing children with PCD.
- Improved otolaryngological care can potentially reduce morbidity associated with PCD.
- Enhanced management strategies are vital for improving the overall quality of life for children with PCD.
Objective:
This project aims to prospectively and objectively assess otolaryngological manifestations and quality of life of children with primary ciliary dyskinesia (PCD) and compare these findings with healthy pediatric controls.
Study Design:
Cross-sectional.
Setting:
Two high-volume pediatric PCD specialty centers.
Methods:
Standardized clinical assessment; Sino-Nasal Outcome Test 22 (SNOT-22); Hearing Environment and Reflection Quality of Life (HEAR-QL); Reflux Symptom Index (RSI); standardized physical examination of the sinonasal, laryngeal, and otological systems; and investigations including pure-tone audiograms (PTAs) and sinonasal cultures were collected.
Results:
Forty-seven children with PCD and 25 control participants were recruited. Children with PCD had more upper airway symptoms than healthy children. They had significantly higher scores in both SNOT-22 and RSI, indicating worse sinonasal and reflux symptoms, with worse quality of life on the HEAR-QL index compared to healthy children (P < .05). Fifty-two percent of children with PCD-related hearing loss were not aware of their hearing deficit that was present on audiological assessment, and only 23% of children who had ventilation tubes had chronic otorrhea, most of which was easily controlled with ototopic drops. Furthermore, although all children with PCD had chronic rhinosinusitis, only 36% of them were using topical nasal treatment. The most common bacteria cultured from the middle meatus were Staphylococcus aureus in 11 of 47 (23%), followed by Streptococcus pneumoniae in 10 of 47 (21%).
Conclusion:
This multisite cohort highlights the importance of otolaryngology involvement in the management of children with PCD. More rigorous otolaryngological management may lead to reductions in overall morbidity and improve quality of life for children with PCD.
Related Concept Videos
01:27Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies
Medical History
01:25Chronic Obstructive Pulmonary Disease-III: Symptoms and Complications.
Symptoms of COPD can be classified as primary or systemic. Primary symptoms relate to reduced airflow, while systemic or extrapulmonary symptoms relate to COPD's broader impact on the body.
Primary Symptoms of COPD:
01:20COPD: Pathogenesis and Clinical Features
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
01:20Chronic Obstructive Pulmonary Disease-II: Pathophysiology
Chronic Inflammation
01:20Chronic Obstructive Pulmonary Disease-I: Introduction
01:22Chronic Obstructive Pulmonary Disease
Smoking is a primary risk factor for COPD, with over 80% of patients having a history of it. Patients typically experience progressive dyspnea or labored breathing, frequent coughing, and recurrent pulmonary infections. Many eventually succumb to respiratory failure, characterized by...