Houston Area Pediatric Specialists

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Sunday, January 26, 2014

Sleep-disordered-breathing in Ehlers-Danlos Syndrome (a genetic model of obstructive sleep apnea).

ChestChestAugust 10, 2013

Sleep-disordered-breathing in Ehlers-Danlos Syndrome (a genetic model of obstructive sleep apnea).

Christian Guilleminault, Michelle Primeau, Yean Hsiao, Kin Min Yuen, Damien Leger, Arnaut Metlaine
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Aims:  Investigation of the presence of sleep-disordered-breathing (SDB) in patients with Ehlers-Danlos(ED) Syndrome. ED is a genetic disorder characterized by cartilaginous defects, including nasal-maxillary cartilages.
Method:  A retrospective series of 34 ED patients presenting to clinic with complaints of fatigue and poor sleep were evaluated via clinical history, physical examination, polysomnography (PSG) and in some cases with anterior rhinomanometry. Additionally, a prospective clinical investigation of 9 ED patients was performed in a specialized medical ED clinic.
Results:  All ED patients evaluated had SDB on PSG. In addition to apneas and hypopneas, SDB included flow limitation. With increasing age, flow limitation decreased in favor of apnea and hypopnea events, but clinical complaints were similar independent of the type of PSG finding. In the subgroup of patients who underwent nasal rhinometry, increased nasal resistance was increased relative to normative values. Nasal CPAP improved patient symptoms. ED patients in medical clinic presented with symptoms and clinical signs of SDB, but they never were referred for evaluation of SDB.
Conclusion:  In ED patients, abnormal breathing during sleep is commonly unrecognized and is responsible for daytime fatigue and poor sleep. ED patients are at particular risk for SDB due to genetically related cartilage defects that lead to the development of facial structures known to cause SDB. ED may be a genetic model for obstructive sleep apnea because of abnormalities of oral-facial growth. Early recognition of SDB may allow treatment with orthodontics and myofacial reeducation.

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