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European Archives of Oto-Rhino-Laryngology

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01-11-2013 | Rhinology

Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome

Authors: Amy Østertun Geirdal, Britt Øverland, Ketil Heimdal, Kari Storhaug, Pamela Åsten, Harriet Akre

Published in: European Archives of Oto-Rhino-Laryngology | Issue 11/2013

Abstract

Although the relationship between Quality of Life (QoL) and obstructive sleep apnea (OSA) has been reported in several studies, little is known about this relationship among individuals affected with Treacher Collins syndrome (TCS). The aim of this study was to examine the associations between obstructive sleep and QoL in TCS patients. Thirty-six individuals with TCS (8–75 years) were invited to participate in expanded medical examinations, including a sleep study, polysomnography, as well as to respond to questionnaires about health related Health-related quality of life (HRQoL). Twenty-three (64 %) responded to the invitation, but four were later excluded due to additional diagnoses or unconfirmed TCS, and four were below 12 years and excluded due to different scoring rules for sleep and respiratory disturbances in young children and adults. The remaining group comprised 15 adults and adolescents with TCS, 5 male (33 %) and 10 female (66 %). The participants were between 12 and 75 years of age (mean 38.6, SD 18.5). Obstructive sleep was found in 87 % of the patients and several sleep apnea parameters, among these wake time after sleep, subjective snoring and mean saturation, were associated with poorer HRQoL. OSA appears to account for reduced HRQoL in adolescents and adults with TCS.

Fazen LE, Elmore J, Nadler HL (1967) Mandibulo-facial dysostosis. (Treacher-Collins syndrome). Am J Dis Child 113(4):405–410PubMed

Rovin MSS, Dachi SF, Borenstein DB, Cotter W (1964) Mandibulofacial dysostosis, a familial study of five generations. J Pediatr 65:215–221PubMedCrossRef

Warschausky S, Kay JB, Buchman S, Halberg A, Berger M (2002) Health-related quality of life in children with craniofacial anomalies. Plast Reconstr Surg 110(2):409–414PubMedCrossRef

Strauss RP, Cassell CH (2009) Critical issues in craniofacial care: quality of life, costs of care, and implications of prenatal diagnosis. Acad Pediatr 9(6):427–432. doi:10.1016/j.acap.2009.09.019 PubMedCrossRef

Dixon MJ (1995) Treacher Collins syndrome. J Med Genet 32(10):806–808PubMedCrossRef

Marres HA, Cremers CW, Dixon MJ, Huygen PL, Joosten FB (1995) The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees. Arch Otolaryngol Head Neck Surg 121(5):509–514PubMedCrossRef

Østerhus IN, Skogedal N, Akre H, Johnsen U, Nordgarden H, Åsten P (2012) Salivary gland pathology as a new finding in Treacher Collins syndrome. Am J Med Gen 158A(6):1320–1325. doi:10.1002/ajmg.a.35331

Åsten P, Skogedal N, Nordgarden H, Axelsson S, Akre H, Sjögreen L (2012) Orofacial functions and oral health associated with Treacher Collins syndrome. Acta Odontol Scand 1–10. doi:10.3109/00016357.2012.700065

Volna J, Sonka K (2006) Medical factors of falling asleep behind the wheel. Prague Med Rep 107(3):290–296PubMed

10.

Casale M, Pappacena M, Rinaldi V, Bressi F, Baptista P, Salvinelli F (2009) Obstructive sleep apnea syndrome: from phenotype to genetic basis. Curr Genomics 10(2):119–126. doi:10.2174/138920209787846998 PubMedCrossRef

11.

Rosen CL, Storfer-Isser A, Taylor HG, Kirchner HL, Emancipator JL, Redline S (2004) Increased behavioral morbidity in school-aged children with sleep-disordered breathing. Pediatrics 114(6):1640PubMedCrossRef

12.

Hoeve HL, Joosten KF, van den Berg S (1999) Management of obstructive sleep apnea syndrome in children with craniofacial malformation. Int J Pediatr Otorhinolaryngol 49(Suppl 1):S59–S61PubMedCrossRef

13.

Mitchell RB (2005) Sleep-disordered breathing in children: are we underestimating the problem? Eur Respir J 25(2):216–217. doi:10.1183/09031936.05.00124704 PubMedCrossRef

14.

Ip MSM, Lam B, Ng MMT, Lam WK, Tsang KWT, Lam KSL (2002) Obstructive sleep apnea is independently associated with insulin resistance. Am J Respir Crit Care Med 165(5):670–676PubMedCrossRef

15.

Kwok KL, Ng DK, Chan CH (2008) Cardiovascular changes in children with snoring and obstructive sleep apnoea. Ann Acad Med Singap 37(8):715–721PubMed

16.

Redline S, Storfer-Isser A, Rosen CL, Johnson NL, Kirchner HL, Emancipator J, Kibler AM (2007) Association between metabolic syndrome and sleep-disordered breathing in adolescents. Am J Respir Crit Care Med Off J Am Thorac Soc Med Sect Am Lung Assoc 176(4):401CrossRef

17.

Shahar E, Whitney C, Redline S, Lee E, Newman A, Javier Nieto F, O’Connor G, Boland L, Schwartz J, Samet J (2001) Sleep-disordered breathing and cardiovascular disease. Am J Respir Crit Care Med 163(1):19–25PubMedCrossRef

18.

Akre H, Øverland B, Åsten P, Skogedal N, Heimdal K (2012) Obstructive sleep apnea in Treacher Collins syndrome. Eur Arch Otorhinolaryngol 269(1):331–337. doi:10.1007/s00405-011-1649-0 PubMedCrossRef

19.

Plomp RG, Bredero-Boelhouwer HH, Joosten KFM, Wolvius EB, Hoeve HLJ, Poublon RML, Mathijssen IMJ (2012) Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause. Int J Oral Maxillofac Surg 41(6):696–701. doi:10.1016/j.ijom.2012.01.018 PubMedCrossRef

20.

Hoeve LJH, Pijpers M, Joosten KFM (2003) OSAS in craniofacial syndromes: an unsolved problem. Int Congr Ser 1254:181–184. doi:10.1016/s0531-5131(03)01059-8 CrossRef

21.

WHO WHOQoLG (ed) (1994) The development of the World Health Organization Quality of Life Assessment Instrument (the WHOQoL). Quality of life assessment: international perspectives. Spriner-verlag, Berlin

22.

Bonomi AE, Patrick DL, Bushnell DM, Martin M (2000) Quality of life measurement: will we ever be satisfied? J Clin Epidemiol 53(1):19–23 (S0895-4356(99)00121-3 [pii])PubMedCrossRef

23.

Meslier N, Lebrun T, Grillier-Lanoir V, Rolland N, Henderick C, Sailly JC, Racineux JL (1998) A French survey of 3,225 patients treated with CPAP for obstructive sleep apnoea: benefits, tolerance, compliance and quality of life. Eur Respir J 12(1):185–192PubMedCrossRef

24.

Bolitschek J, Schmeiser-Rieder A, Schobersberger R, Rosenberger A, Kunze M, Aigner K (1998) Impact of nasal continuous positive airway pressure treatment on quality of life in patients with obstructive sleep apnoea. Eur Respir J 11(4):890–894PubMedCrossRef

25.

Jean-Louis G, Kripke DF, Ancoli-Israel S (2000) Sleep and quality of well-being. Sleep 23(8):1115–1121PubMed

26.

Akashiba T, Kawahara S, Akahoshi T, Omori C, Saito O, Majima T, Horie T (2002) Relationship between quality of life and mood or depression in patients with severe obstructive sleep apnea syndrome. Chest 122(3):861–865PubMedCrossRef

27.

Rubin DB, Schenker N (1991) Multiple imputation in health-are databases: an overview and some applications. Stat Med 10(4):585–598. doi:10.1002/sim.4780100410 PubMedCrossRef

28.

Rechtschaffen A, Kales A (1968) A manual of standardized terminology, techniques and scoring systems for sleep stages of human subjects. National Institute of Health, Washington, Publication No. 204

29.

Iber C, Ancoli-Israel S, Chesson A, Quan S (2007) The AASM manual for the scoring of sleep and associated events. Rules, terminology and technical specifications. American Academy of Sleep Medicine, Westchester, pp 45–47

30.

Johns MW (1991) A new method for measuring daytime sleepiness: the Epworth Sleepiness Scale. Sleep 6:540–545

31.

Ware JE Jr, Gandek B (1998) Overview of the SF-36 health survey and the international quality of life assessment (IQOLA) project. J Clin Epidemiol 51(11):903–912 (S0895-4356(98)00081-X [pii])PubMedCrossRef

32.

Ware J Jr, Kosinski M, Keller SD (1996) A 12-Item short-form health survey: construction of scales and preliminary tests of reliability and validity. Med Care 34(3):220–233PubMedCrossRef

33.

Loge JHAYv, Kaasa S, Hjermstad MJ, Kvien TK (1998) Translation and performance of the norwegian SF-36 Health survey in patients with rheumatoid arthritis. I. data quality, scaling assumptions, reliability, and construct validity. J Clin Epidemiol 51(11):1069–1076PubMedCrossRef

34.

Ware JE Jr, Gandek B (1998) Methods for testing data quality, scaling assumptions, and reliability: the IQOLA Project approach. International quality of life assessment. J Clin Epidemiol 51(11):945–952 (S0895435698000857 [pii])PubMedCrossRef

35.

Gandek B, Ware JE Jr, Aaronson NK, Alonso J, Apolone G, Bjorner J, Brazier J, Bullinger M, Fukuhara S, Kaasa S, Leplege A, Sullivan M (1998) Tests of data quality, scaling assumptions, and reliability of the SF-36 in eleven countries: results from the IQOLA project. International quality of life assessment. J Clin Epidemiol 51(11):1149–1158 (S0895435698001061 [pii])PubMedCrossRef

36.

Zucconi M (ed) (2000) Sleep disorders in children with neurological diseases. Sleep and breathing in children. Marcel Dekker, Basel

37.

McCarley RW (2007) Neurobiology of REM and NREM sleep. Sleep Med 8(4):302–330. doi:10.1016/j.sleep.2007.03.005 PubMedCrossRef

38.

Moore P, Bardwell WA, Ancoli-Israel S, Dimsdale JE (2001) Association between polysomnographic sleep measures and health-related quality of life in obstructive sleep apnea. J Sleep Res 10(4):303–308PubMedCrossRef

39.

Lopes C, Esteves AM, Bittencourt LR, Tufik S, Mello MT (2008) Relationship between the quality of life and the severity of obstructive sleep apnea syndrome. Braz J Med Biol Res 41(10):908–913 (S0100-879X2008005000036 [pii])PubMedCrossRef

40.

Baldwin CM, Griffith KA, Nieto FJ, O’Connor GT, Walsleben JA, Redline S (2001) The association of sleep-disordered breathing and sleep symptoms with quality of life in the sleep heart health study. Sleep 24(1):96–105PubMed

41.

Chervin RD, Aldrich MS (1999) The Epworth Sleepiness Scale may not reflect objective measures of sleepiness or sleep apnea. Neurology 52(1):125. doi:10.1212/wnl.52.1.125 PubMedCrossRef

42.

Moyer CA, Sonnad SS, Garetz SL, Helman JI, Chervin RD (2001) Quality of life in obstructive sleep apnea: a systematic review of the literature. Sleep Med 2(6):477PubMedCrossRef

43.

Tsai JC (2010) Neurological and neurobehavioral sequelae of obstructive sleep apnea. Neurorehabilitation 26(1):85–94PubMed

44.

Bédard MA, Montplaisir J, Richer F, Malo J (1991) Nocturnal hypoxemia as a determinant of vigilance impairment in sleep apnea syndrome. Chest 100(2):367–370PubMedCrossRef

45.

Gulbay BE, Acican T, Onen ZP, Yildiz OA, Baccioglu A, Arslan F, Kose K (2008) Health-related quality of life in patients with sleep-related breathing disorders: relationship with nocturnal parameters, daytime symptoms and Comorbid diseases. Respiration 75(4):393PubMedCrossRef

Title: Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome
Authors: Amy Østertun Geirdal
Britt Øverland
Ketil Heimdal
Kari Storhaug
Pamela Åsten
Harriet Akre
Publication date: 01-11-2013
Publisher: Springer Berlin Heidelberg
Published in: European Archives of Oto-Rhino-Laryngology / Issue 11/2013
Print ISSN: 0937-4477
Electronic ISSN: 1434-4726
DOI: https://doi.org/10.1007/s00405-013-2409-0

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Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome

Abstract

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