Related Experiment Video
Updated: Sep 19, 2025
05:32
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
4.5K
Sleep disordered breathing in children with primary ciliary dyskinesia
Michele Arigliani1,2, Eleonora Dehlink3, Andrew Bush1,4
1Paediatric Respiratory Medicine, Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.
ERJ Open Research
|June 17, 2025
Summary
Screening sleep studies for children with primary ciliary dyskinesia revealed a low prevalence of sleep disordered breathing (SDB). These studies are recommended only when specific SDB symptoms are evident.
Area of Science:
- Pediatric Pulmonology
- Sleep Medicine
- Genetics
Background:
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function.
- Previous pilot studies suggested a potential link between PCD and sleep disordered breathing (SDB).
- This study investigated the prevalence of SDB in unselected children with PCD.
Discussion:
- The study found a surprisingly low prevalence of SDB in children with PCD.
- Screening polysomnography may not be necessary for all children diagnosed with PCD.
- Clinical presentation of SDB symptoms should guide the decision for sleep studies.
Key Insights:
- Unselected children with PCD exhibit a low prevalence of SDB.
- Routine screening sleep studies for PCD patients without symptoms are not supported by this data.
- Targeted screening based on clinical symptoms is more appropriate.
Outlook:
- Further research is needed to understand the specific factors influencing SDB in PCD.
- Clinical guidelines for managing PCD may need revision regarding SDB screening.
- Investigating the impact of SDB on PCD progression and vice versa remains crucial.
Related Concept Videos
01:27Physical Assessment of the Respiratory Tract II: Inspection
421
Physical assessment of the respiratory tract through inspection is a crucial step in understanding the patient's respiratory health. It provides insights into the functioning of the respiratory system, the musculoskeletal structure, and even the patient's nutritional status. This comprehensive approach involves observing several vital aspects: chest configuration, breathing patterns, respiratory rates, skin color, and use of accessory muscles.
Chest Configuration
The chest configuration...
Chest Configuration
The chest configuration...
421
01:30Alterations in Respiration II
1.0K
There are numerous types of normal and abnormal respiration. Based on ventilatory movements, breathing patterns are classified as regular, deep, or shallow. Examples include Biot's breathing, Cheyne-Stokes respiration, Kussmaul's breathing, hyperventilation, and hypoventilation. Each pattern is clinically significant and aids in evaluating patients.
In Biot's breathing, the respiratory rate and depth are irregular, alternating between periods of deep gasping and apnea. Common causes...
In Biot's breathing, the respiratory rate and depth are irregular, alternating between periods of deep gasping and apnea. Common causes...
1.0K
01:30Respiratory System Abnormal Finding I: Inspection and Percussion
444
Respiratory system abnormalities are a significant concern in healthcare due to their potential to indicate underlying severe conditions like Chronic Obstructive Pulmonary Disease (COPD), asthma, and pneumonia. These abnormalities can often be detected through physical examination methods like inspection and percussion.
Inspection Findings
During an inspection, several findings may suggest the presence of respiratory distress or disease. Pursed-lip breathing, where exhalation is slowed by...
Inspection Findings
During an inspection, several findings may suggest the presence of respiratory distress or disease. Pursed-lip breathing, where exhalation is slowed by...
444
01:17Other Pulmonary Disorders
915
Respiratory disorders encompass a range of conditions with varying levels of severity. Asthma, marked by chronic airway inflammation and hypersensitivity, is one such condition. It can lead to airway obstruction due to factors like bronchial spasms, mucosal edema, increased mucus secretion, or epithelial damage. Asthma triggers are diverse, ranging from allergens to emotional upset, and treatment focuses on both immediate relief through bronchodilators and long-term inflammation suppression.
915
01:26Respiratory Volumes and Capacities I
1.2K
Assessing the respiratory rate and rhythm for a complete minute is crucial for evaluating the breathing pattern. Even a minor increase in the patient's average respiratory rate, by as little as three to five breaths per minute, is an early and vital indicator of respiratory distress. Patients with a respiratory rate exceeding twenty-four breaths per minute require close monitoring to determine the physiological alterations. This careful observation is essential for prompt recognition and...
1.2K
01:21Sleep Apnea
227
Sleep apnea is a condition where breathing stops intermittently during sleep, often leading to significant health issues. Each episode can last from 10 to 20 seconds or more and is frequently accompanied by a brief arousal from sleep. This disturbance, largely unnoticed by the individual, can lead to severe daytime fatigue. Commonly, individuals seek help after being informed by their partners about loud snoring and noticeable breathing pauses during sleep.
The condition is more prevalent among...
The condition is more prevalent among...
227