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Upper airway obstruction with hypoxaemia and sleep disruption in Down syndrome
D P Southall1, V A Stebbens, R Mirza
1Department of Paediatrics, Brompton Hospital, London.
Insights
Severe upper airway obstruction during sleep is common in children with Down syndrome (DS), often going undetected. Prompt intervention is crucial for managing this serious complication and improving hypoxemia.
Area of Science:
- Pediatric Pulmonology
- Genetics
- Sleep Medicine
Background:
- Down syndrome (DS) is associated with various health complications.
- Upper airway obstruction during sleep is a potential concern in children with DS.
Purpose of the Study:
- To investigate the prevalence and characteristics of sleep-related upper airway obstruction in children with Down syndrome.
- To compare sleep breathing patterns in children with DS to age-matched controls.
Main Methods:
- Utilized long-term tape recordings to monitor oxygen saturation, breathing movements, and expired CO2 in 12 children with DS.
- Compared overnight recordings with age-matched control groups.
Main Results:
- Six out of 12 children with DS exhibited severe, previously undetected upper airway obstruction during sleep.
- Obstruction was pharyngeal in five cases and bilateral choanal stenosis in one.
- Children with DS showed episodes of hypoxemia and elevated end-tidal CO2, particularly during irregular breathing patterns.
Conclusions:
- Sleep-related upper airway obstruction is an often-overlooked complication in Down syndrome.
- Prompt diagnosis and management of hypoxemia due to airway obstruction are essential.
- Surgical interventions like choanal dilatation, tracheostomy, tonsillectomy, and adenoidectomy showed variable success rates.
Abstract:
Six of 12 children with Down syndrome (DS) tested by means of long-term tape-recordings of oxygen saturation, breathing movements and expired CO2 were found to have previously undetected and severe upper airway obstruction during sleep. In five cases the obstruction occurred in the pharynx and in the sixth it was due to bilateral choanal stenosis. When compared with age-matched controls, overnight tape-recordings showed episodes of abnormal arterial hypoxaemia and an abnormally elevated end-tidal CO2. Episodes of obstruction were most marked during sleep associated with a non-regular breathing pattern. Abnormal episodes of hypoxaemia were associated with continued breathing movements. Sometimes there was no airflow (complete obstruction); at other times airflow continued normally or was reduced in amplitude (partial obstruction). During episodes of partial or complete airway obstruction the inspiratory waveform showed a characteristic shape. These results show sleep-related upper airway obstruction to be an often undetected complication of DS and all necessary measures should be taken to overcome the obstruction when it reaches the stage of producing abnormal hypoxaemia. Choanal dilatation and tracheostomy were successful in treating two of the children. Tonsillectomy and adenoidectomy were successful for one child, but only of marginal benefit for two others.