Obstructive sleep apnea in Treacher Collins syndrome

The aim of the present study was to investigate the prevalence of obstructive sleep apnea syndrome (OSAS) among the Norwegian population with Treacher Collins syndrome (TCS). A secondary aim was to establish whether TCS phenotype severity is associated with OSAS severity. A prospective case study de...

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Main Authors:	Akre, Harriet, Øverland, Britt, Åsten, Pamela, Skogedal, Nina, Heimdal, Ketil
Format:	Online
Language:	English
Published:	Springer-Verlag 2011
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249173/

id	pubmed-3249173
recordtype	oai_dc
spelling	pubmed-32491732012-01-11 Obstructive sleep apnea in Treacher Collins syndrome Akre, Harriet Øverland, Britt Åsten, Pamela Skogedal, Nina Heimdal, Ketil Miscellaneous The aim of the present study was to investigate the prevalence of obstructive sleep apnea syndrome (OSAS) among the Norwegian population with Treacher Collins syndrome (TCS). A secondary aim was to establish whether TCS phenotype severity is associated with OSAS severity. A prospective case study design was used. Individuals who were 5 years old and above with a known diagnosis of TCS in Norway were invited to participate in a study. The study included genetic testing, medical and dental examinations and polysomnography. All participants demonstrated disturbed respiration during sleep; 18/19 met the diagnostic criteria for OSAS. Subjectively evaluated snoring was not a reliable predictor of OSAS. We found no significant association between TCS phenotype severity and the severity of OSAS. OSAS is common in TCS, but there is no association with the phenotype severity. Individuals diagnosed with TCS must undergo sleep studies to identify the presence of OSAS. Springer-Verlag 2011-05-29 2012-01 /pmc/articles/PMC3249173/ /pubmed/21626120 http://dx.doi.org/10.1007/s00405-011-1649-0 Text en © The Author(s) 2011
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Akre, Harriet Øverland, Britt Åsten, Pamela Skogedal, Nina Heimdal, Ketil
spellingShingle	Akre, Harriet Øverland, Britt Åsten, Pamela Skogedal, Nina Heimdal, Ketil Obstructive sleep apnea in Treacher Collins syndrome
author_facet	Akre, Harriet Øverland, Britt Åsten, Pamela Skogedal, Nina Heimdal, Ketil
author_sort	Akre, Harriet
title	Obstructive sleep apnea in Treacher Collins syndrome
title_short	Obstructive sleep apnea in Treacher Collins syndrome
title_full	Obstructive sleep apnea in Treacher Collins syndrome
title_fullStr	Obstructive sleep apnea in Treacher Collins syndrome
title_full_unstemmed	Obstructive sleep apnea in Treacher Collins syndrome
title_sort	obstructive sleep apnea in treacher collins syndrome
description	The aim of the present study was to investigate the prevalence of obstructive sleep apnea syndrome (OSAS) among the Norwegian population with Treacher Collins syndrome (TCS). A secondary aim was to establish whether TCS phenotype severity is associated with OSAS severity. A prospective case study design was used. Individuals who were 5 years old and above with a known diagnosis of TCS in Norway were invited to participate in a study. The study included genetic testing, medical and dental examinations and polysomnography. All participants demonstrated disturbed respiration during sleep; 18/19 met the diagnostic criteria for OSAS. Subjectively evaluated snoring was not a reliable predictor of OSAS. We found no significant association between TCS phenotype severity and the severity of OSAS. OSAS is common in TCS, but there is no association with the phenotype severity. Individuals diagnosed with TCS must undergo sleep studies to identify the presence of OSAS.
publisher	Springer-Verlag
publishDate	2011
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249173/
_version_	1611497528221499392

Obstructive sleep apnea in Treacher Collins syndrome

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