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CC BY-NC-ND 4.0 · Sleep Sci 2023; 16(02): 139-147
DOI: 10.1055/s-0043-1770802
Original Article

Obstructive Sleep Apnea in Adults with Treacher Collins Syndrome is Related with Altered Anthropometric Measurements, Increased Blood Pressure and Impaired Quality of Life

Leide Vilma Fidélis-da Silva
1   Sleep and Functional Imaging Units, Laboratory of Physiology, University of Sao Paulo, Hospital for Rehabilitation of Craniofacial Anomalies, Bauru, SP, Brazil
,
Sergio Henrique Kiemle-Trindade
1   Sleep and Functional Imaging Units, Laboratory of Physiology, University of Sao Paulo, Hospital for Rehabilitation of Craniofacial Anomalies, Bauru, SP, Brazil
2   Department of Pediatric Dentistry, Orthodontics and Public Health, Bauru School of Medicine, University of Sao Paulo, Bauru, SP, Brazil
,
Maria Noel Marzano-Rodrigues
1   Sleep and Functional Imaging Units, Laboratory of Physiology, University of Sao Paulo, Hospital for Rehabilitation of Craniofacial Anomalies, Bauru, SP, Brazil
3   Department of Biological Sciences, Bauru School of Dentistry, University of Sao Paulo, Bauru, SP, Brazil
,
Laís Hollara Medeiros
1   Sleep and Functional Imaging Units, Laboratory of Physiology, University of Sao Paulo, Hospital for Rehabilitation of Craniofacial Anomalies, Bauru, SP, Brazil
,
Cristiano Tonello
4   Hospitalar Department, University of Sao Paulo, Hospital for Rehabilitation of Craniofacial Anomalies, Bauru, SP, Brazil
,
Ivy Kiemle Trindade-Suedam
1   Sleep and Functional Imaging Units, Laboratory of Physiology, University of Sao Paulo, Hospital for Rehabilitation of Craniofacial Anomalies, Bauru, SP, Brazil
3   Department of Biological Sciences, Bauru School of Dentistry, University of Sao Paulo, Bauru, SP, Brazil
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Abstract

Objectives This study aimed at evaluating the risk for obstructive sleep apnea (OSA) and its frequency in adults with Treacher Collins syndrome (TCS). The association of OSA with excessive daytime sleepiness (EDS), respiratory symptoms, and clinical variables was also assessed.

Material and Methods The subjects were prospectively screened for OSA through the Berlin Questionnaire and type I polysomnography. The Epworth Sleepiness Scale and the Respiratory Symptoms Questionnaire were used for assessing OSA-related symptoms. Quality of life was assessed by means of the Short Form 36 Health Survey.

Results The sample comprised 20 adults with TCS (55.0% female), aged 22.6 ± 5.8 years. Mean values of systemic blood pressure (113.0 ± 12.6/68.0 ± 9.5mmHg), body mass index (22.9 ± 5.9kg/m2), neck (34.1 ± 4.3cm), and waist circumference (80.4 ± 13.6cm) characterized the sample. A high risk for OSA was detected in 35% of the sample. Polysomnography results indicated an OSA frequency of 44.4%, with a median apnea-hypopnea index (AHI) value of 3.8 events/hour (minimum = 0.2; maximum = 77.5). Snoring (75.0%), nasal obstruction (70.0%) and EDS (20.0%) were the reported OSA-related symptoms. Quality of life median scores were 72.3 points (minimum = 45.0; maximum = 91.1). Strong positive correlations between AHI versus waist circumference and AHI versus systolic blood pressure were found. Moderate positive correlations between AHI versus body mass index and AHI versus neck circumference were detected. Negative correlation between AHI versus vitality were also observed.

Conclusion Adults with TCS are at high risk for OSA, which is associated with respiratory symptoms, altered anthropometric measurements, increased systolic pressure and impairment of quality of life.

Keywords

mandibulofacial dysostosis - airway obstruction - polysomnography


Publication History

Article published online:
06 July 2023

© 2023. Brazilian Sleep Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

  • 1 Vincent M, Geneviève D, Ostertag A. et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med 2016; 18 (01) 49-56
    CrossrefPubMedGoogle Scholar
  • 2 Reid L, Carroll W. Treacher Collins Syndrome in the United States: Examining Incidence and Inpatient Interventions. Cleft Palate Craniofac J 2021; 58 (11) 1438-1442
    CrossrefPubMedGoogle Scholar
  • 3 Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R. Treacher Collins Syndrome: Genetics, Clinical Features and Management. Genes (Basel) 2021; 12 (09) 1392
    CrossrefPubMedGoogle Scholar
  • 4 Hertle RW, Ziylan S, Katowitz JA. Ophthalmic features and visual prognosis in the Treacher-Collins syndrome. Br J Ophthalmol 1993; 77 (10) 642-645
    CrossrefPubMedGoogle Scholar
  • 5 Rosa F, Coutinho MB, Ferreira JP, Sousa CA. Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome. Acta Otorrinolaringol Esp 2016; 67 (03) 142-147
    CrossrefPubMedGoogle Scholar
  • 6 Wang FM, Millman AL, Sidoti PA, Goldberg RB. Ocular findings in Treacher Collins syndrome. Am J Ophthalmol 1990; 110 (03) 280-286
    CrossrefPubMedGoogle Scholar
  • 7 Østerhus IN, Skogedal N, Akre H, Johnsen UL, Nordgarden H, Åsten P. Salivary gland pathology as a new finding in Treacher Collins syndrome. Am J Med Genet A 2012; 158A (06) 1320-1325
    CrossrefPubMedGoogle Scholar
  • 8 Kapur VK, Auckley DH, Chowdhuri S. et al. Clinical Practice Guideline for Diagnostic Testing for Adult Obstructive Sleep Apnea: An American Academy of Sleep Medicine Clinical Practice Guideline. J Clin Sleep Med 2017; 13 (03) 479-504
    CrossrefPubMedGoogle Scholar
  • 9 Sher AE, Shprintzen RJ, Thorpy MJ. Endoscopic observations of obstructive sleep apnea in children with anomalous upper airways: predictive and therapeutic value. Int J Pediatr Otorhinolaryngol 1986; 11 (02) 135-146
    CrossrefPubMedGoogle Scholar
  • 10 Østertun Geirdal A, Øverland B, Heimdal K, Storhaug K, Asten P, Akre H. Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome. Eur Arch Otorhinolaryngol 2013; 270 (11) 2879-2884
    CrossrefPubMedGoogle Scholar
  • 11 Hoeve LJ, Pijpers M, Joosten KF. OSAS in craniofacial syndromes: an unsolved problem. Int J Pediatr Otorhinolaryngol 2003; 67 (Suppl 1): S111-S113 DOI: 10.1016/j.ijporl.2003.08.007.
    CrossrefPubMedGoogle Scholar
  • 12 Bergeron M, Cohen AP, Maby A, Babiker HE, Pan BS, Ishman SL. The Effect of Cleft Palate Repair on Polysomnography Results. J Clin Sleep Med 2019; 15 (11) 1581-1586
    CrossrefPubMedGoogle Scholar
  • 13 Ribeiro AA, Smith FJ, Nary Filho H, Trindade IEK, Tonello C, Trindade-Suedam IK. Three-Dimensional Upper Airway Assessment in Treacher Collins Syndrome. Cleft Palate Craniofac J 2020; 57 (03) 371-377
    CrossrefPubMedGoogle Scholar
  • 14 Ralls F, Cutchen L. A contemporary review of obstructive sleep apnea. Curr Opin Pulm Med 2019; 25 (06) 578-593
    CrossrefPubMedGoogle Scholar
  • 15 Akre H, Øverland B, Åsten P, Skogedal N, Heimdal K. Obstructive sleep apnea in Treacher Collins syndrome. Eur Arch Otorhinolaryngol 2012; 269 (01) 331-337
    CrossrefPubMedGoogle Scholar
  • 16 Plomp RG, Bredero-Boelhouwer HH, Joosten KF. et al. Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause. Int J Oral Maxillofac Implants 2012; 41 (06) 696-701
    CrossrefPubMedGoogle Scholar
  • 17 Drager LF, Santos RB, Silva WA. et al. OSA, Short Sleep Duration, and Their Interactions With Sleepiness and Cardiometabolic Risk Factors in Adults: The ELSA-Brasil Study. Chest 2019; 155 (06) 1190-1198
    CrossrefPubMedGoogle Scholar
  • 18 Angelelli P, Macchitella L, Toraldo DM. et al. The Neuropsychological Profile of Attention Deficits of Patients with Obstructive Sleep Apnea: An Update on the Daytime Attentional Impairment. Brain Sci 2020; 10 (06) 325
    CrossrefPubMedGoogle Scholar
  • 19 Johnson CL, Dohrmann SM, Kerckove Vd. et al. National Health and Nutrition Examination Survey: National Youth Fitness Survey Estimation Procedures, 2012. Vital Health Stat 2 2014; ; ( (168) 1-25
    PubMedGoogle Scholar
  • 20 Davidson TM, Patel MR. Waist circumference and sleep disordered breathing. Laryngoscope 2008; 118 (02) 339-347
    CrossrefPubMedGoogle Scholar
  • 21 Soylu AC, Levent E, Sarıman N, Yurtlu S, Alparslan S, Saygı A. Obstructive sleep apnea syndrome and anthropometric obesity indexes. Sleep Breath 2012; 16 (04) 1151-1158
    CrossrefPubMedGoogle Scholar
  • 22 Whelton PK, Carey RM, Aronow WS. et al. 2017 ACC/AHA/AAPA/ABC/ACPM/AGS/APhA/ASH/ASPC/NMA/PCNA Guideline for the Prevention, Detection, Evaluation, and Management of High Blood Pressure in Adults: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Hypertension 2018; 71 (06) e13-e115
    PubMedGoogle Scholar
  • 23 Netzer NC, Stoohs RA, Netzer CM, Clark K, Strohl KP. Using the Berlin Questionnaire to identify patients at risk for the sleep apnea syndrome. Ann Intern Med 1999; 131 (07) 485-491
    CrossrefPubMedGoogle Scholar
  • 24 Johns MW. A new method for measuring daytime sleepiness: the Epworth sleepiness scale. Sleep 1991; 14 (06) 540-545
    CrossrefPubMedGoogle Scholar
  • 25 Caouette-Laberge L, Egerszegi EP, de Remont AM, Ottenseyer I. Long-term follow-up after division of a pharyngeal flap for severe nasal obstruction. Cleft Palate Craniofac J 1992; 29 (01) 27-31
    CrossrefPubMedGoogle Scholar
  • 26 Ware Jr JE, Gandek B. Methods for testing data quality, scaling assumptions, and reliability: the IQOLA Project approach. International Quality of Life Assessment. J Clin Epidemiol 1998; 51 (11) 945-952
    CrossrefPubMedGoogle Scholar
  • 27 Campos LD, Trindade-Suedam IK, Sampaio-Teixeira AC. et al. Obstructive Sleep Apnea Following Pharyngeal Flap Surgery for Velopharyngeal Insufficiency: A Prospective Polysomnographic and Aerodynamic Study in Middle-Aged Adults. Cleft Palate Craniofac J 2016; 53 (03) e53-e59
    CrossrefPubMedGoogle Scholar
  • 28 Tufik S, Santos-Silva R, Taddei JA, Bittencourt LR. Obstructive sleep apnea syndrome in the Sao Paulo Epidemiologic Sleep Study. Sleep Med 2010; 11 (05) 441-446
    CrossrefPubMedGoogle Scholar
  • 29 Campos LD, Trindade IEK, Yatabe M. et al. Reduced pharyngeal dimensions and obstructive sleep apnea in adults with cleft lip/palate and Class III malocclusion. Cranio 2021; 39 (06) 484-490
    CrossrefPubMedGoogle Scholar
  • 30 Caffo B, Diener-West M, Punjabi NM, Samet J. A novel approach to prediction of mild obstructive sleep disordered breathing in a population-based sample: the Sleep Heart Health Study. Sleep 2010; 33 (12) 1641-1648
    CrossrefPubMedGoogle Scholar
  • 31 Darbandi M, Pasdar Y, Moradi S, Mohamed HJJ, Hamzeh B, Salimi Y. Discriminatory Capacity of Anthropometric Indices for Cardiovascular Disease in Adults: A Systematic Review and Meta-Analysis. Prev Chronic Dis 2020; 17: E131
    CrossrefPubMedGoogle Scholar
  • 32 Cui T, Yan BH, Liu Z, Yang H, Gyan M, Ma YX. Neck circumference: A valuable anthropometric measurement to detect metabolic syndrome among different age groups in China. Diabetes Metab Res Rev 2018; 34 (03) ): DOI: 10.1002/dmrr.2966.
    CrossrefPubMedGoogle Scholar
  • 33 Hou H, Zhao Y, Yu W. et al. Association of obstructive sleep apnea with hypertension: A systematic review and meta-analysis. J Glob Health 2018; 8 (01) 010405
    CrossrefPubMedGoogle Scholar
  • 34 He J, Whelton PK. Elevated systolic blood pressure and risk of cardiovascular and renal disease: overview of evidence from observational epidemiologic studies and randomized controlled trials. Am Heart J 1999; 138 (3 Pt 2): 211-219
    CrossrefPubMedGoogle Scholar
  • 35 Lok R, Zeitzer JM. Physiological correlates of the Epworth Sleepiness Scale reveal different dimensions of daytime sleepiness. Sleep Adv 2021; 2 (01) zpab008
    CrossrefPubMedGoogle Scholar
  • 36 Stuck BA, Hofauer B. The Diagnosis and Treatment of Snoring in Adults. Dtsch Arztebl Int 2019; 116 (48) 817-824
    PubMedGoogle Scholar
  • 37 Finn L, Young T, Palta M, Fryback DG. Sleep-disordered breathing and self-reported general health status in the Wisconsin Sleep Cohort Study. Sleep 1998; 21 (07) 701-706
    PubMedGoogle Scholar
  • 38 Smith IE, Shneerson JM. Is the SF 36 sensitive to sleep disruption? A study in subjects with sleep apnoea. J Sleep Res 1995; 4 (03) 183-188
    CrossrefPubMedGoogle Scholar
  • 39 Laguardia J, Campos MR, Travassos C, Najar AL, Anjos LA, Vasconcellos MM. Brazilian normative data for the Short Form 36 questionnaire, version 2. Rev Bras Epidemiol 2013; 16 (04) 889-897
    CrossrefPubMedGoogle Scholar