Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause

Abstract This cohort study in 35 patients (13 children) evaluates the prevalence, severity and anatomical cause of obstructive sleep apnoea syndrome (OSAS) in patients with Treacher Collins syndrome. Ambulatory polysomnography was performed cross-sectionally to determine OSAS prevalence and severity...

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Bibliographic Details
Published in:	International journal of oral and maxillofacial surgery 2012-06, Vol.41 (6), p.696-701
Main Authors:	Plomp, R.G, Bredero-Boelhouwer, H.H, Joosten, K.F.M, Wolvius, E.B, Hoeve, H.L.J, Poublon, R.M.L, Mathijssen, I.M.J
Format:	Article
Language:	eng
Subjects:	Adolescent Adult Airway Obstruction - diagnosis Biological and medical sciences Child Child, Preschool Cohort Studies Continuous Positive Airway Pressure Cross-Sectional Studies Dentistry Diseases of the osteoarticular system Endoscopy - methods Female Follow-Up Studies Humans Infant Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Mandibulofacial Dysostosis - complications Mandibulofacial Dysostosis - surgery Medical sciences Middle Aged Monitoring, Ambulatory Nose Diseases - diagnosis obstruction level obstructive sleep apnoea Orthognathic Surgical Procedures Otorhinolaryngology. Stomatology Oxygen - blood Pharyngeal Diseases - diagnosis Pneumology Polysomnography prevalence Pulmonary Ventilation - physiology Respiratory system : syndromes and miscellaneous diseases Retrospective Studies severity Sleep Apnea, Obstructive - diagnosis Sleep Apnea, Obstructive - etiology Sleep Apnea, Obstructive - surgery Snoring - diagnosis Surgery Tracheal Diseases - diagnosis Tracheotomy Treacher Collins syndrome Young Adult
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Summary:	Abstract This cohort study in 35 patients (13 children) evaluates the prevalence, severity and anatomical cause of obstructive sleep apnoea syndrome (OSAS) in patients with Treacher Collins syndrome. Ambulatory polysomnography was performed cross-sectionally to determine OSAS prevalence and severity. All upper airway related surgical interventions were evaluated retrospectively. In 11 patients, sleep endoscopy, and flexible and rigid endoscopy were applied to determine the level of anatomical obstruction of the upper airway. The overall prevalence of OSAS in Treacher Collins patients was 46% (54% in children; 41% in adults). Thirty-eight upper airway related surgical interventions were performed in 17 patients. Examination of the upper airway revealed various anatomical levels of obstruction, from the nasal septum to the trachea. Most significant obstruction was found at the level of the oro/hypopharynx. OSAS in Treacher Collins patients is an important problem so all patients should be screened for OSAS by polysomnography. Endoscopy of the upper airways was helpful in determining the level of obstruction. Surgical treatment at one level will not resolve OSAS in most patients because OSAS in Treacher Collins has a multilevel origin. Non-invasive ventilation (continuous positive airway pressure or bilevel positive airway pressure) or tracheotomy should be considered as a treatment modality.
ISSN:	0901-5027 1399-0020