Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study

Svein O Fredwall, Britt Øverland, Hanne Berdal, Søren Berg, Harald Weedon-Fekjær, Ingeborg B Lidal, Ravi Savarirayan, Grethe Månum, Svein O Fredwall, Britt Øverland, Hanne Berdal, Søren Berg, Harald Weedon-Fekjær, Ingeborg B Lidal, Ravi Savarirayan, Grethe Månum

Abstract

Background: Previous studies have found a high prevalence of obstructive sleep apnea (OSA) in children with achondroplasia, but clinical studies on this complication in adults with achondroplasia are lacking.

Objectives: This population-based, cross-sectional study investigated the prevalence, severity, and predictive factors of OSA in Norwegian adults with achondroplasia.

Methods: We collected clinical data on 49 participants. Participants without a preexisting diagnosis of OSA had an overnight sleep registration. OSA was defined as an apnea-hypopnea index (AHI) ≥ 5 plus characteristic clinical symptoms, or AHI ≥ 15. We used the Berlin Questionnaire to assess clinical symptoms of OSA.

Results: OSA was found in 59% (29/49) of the participants (95% confidence interval 44 to 73%), of whom 59% (17/29) had moderate to severe OSA (AHI ≥ 15), and 48% (14/29) were previously undiagnosed. Variables predictive of OSA were: excessive daytime sleepiness; unrested sleep; loud snoring; observed nocturnal breathing stops; hypertension; age > 40 years; and BMI > 30 kg/m2.

Conclusion: OSA was highly prevalent in Norwegian adults with achondroplasia, which we believe is representative of this population worldwide. Follow-up of adults with achondroplasia should include assessment of symptoms and signs of OSA, with a low threshold for conducting an overnight sleep registration if findings suggestive of OSA are present.

Trial registration: ClinicalTrials.gov NCT03780153.

Keywords: Body mass index; Craniofacial abnormalities; Hypertension; Obstructive sleep apnea; Sleep-disordered breathing.

Conflict of interest statement

SOF has received a consulting fee from BioMarin. The authors have completed the ICMJE form and have declared no conflict of interests.

Figures

Fig. 1
Fig. 1
Prevalence and severity of obstructive sleep apnea (OSA) in Norwegian adults with achondroplasia

References

    1. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1. doi: 10.1186/s13023-018-0972-6.
    1. Ornitz DM, Legeai-Mallet L. Achondroplasia: development, pathogenesis, and therapy. Dev Dyn. 2017;246(4):291–309. doi: 10.1002/dvdy.24479.
    1. Nadel JL, Wilkinson DA, Garton HJL, Muraszko KM, Maher CO. Screening and surgery for foramen magnum stenosis in children with achondroplasia: a large, national database analysis. J Neurosurg Pediatr. 2018;23(3):374–380. doi: 10.3171/2018.9.PEDS18410.
    1. Cheung MS, Irving M, Cocca A, Santos R, Shaunak M, Dougherty H, et al. Achondroplasia foramen magnum score: screening infants for stenosis. Arch Dis Child. 2021;106(2):180–184. doi: 10.1136/archdischild-2020-319625.
    1. Merker A, Neumeyer L, Hertel NT, Grigelioniene G, Makitie O, Mohnike K, et al. Growth in achondroplasia: development of height, weight, head circumference, and body mass index in a European cohort. Am J Med Genet A. 2018;176(8):1723–1734. doi: 10.1002/ajmg.a.38853.
    1. Saint-Laurent C, Garde-Etayo L, Gouze E. Obesity in achondroplasia patients: from evidence to medical monitoring. Orphanet J Rare Dis. 2019;14(1):253. doi: 10.1186/s13023-019-1247-6.
    1. Fredwall SO, Linge J, Leinhard OD, Kjønigsen L, Eggesbø HB, Weedon-Fekjær H, et al. Cardiovascular risk factors and body composition in adults with achondroplasia. Genet Med. 2020.
    1. Kapur VK, Auckley DH, Chowdhuri S, Kuhlmann DC, Mehra R, Ramar K, et al. Clinical practice guideline for diagnostic testing for adult obstructive sleep apnea: an American academy of sleep medicine clinical practice guideline. Journal of clinical sleep. 2017;13(3):479–504. doi: 10.5664/jcsm.6506.
    1. Myers KA, Mrkobrada M, Simel DL. Does this patient have obstructive sleep apnea? The rational clinical examination systematic review. JAMA. 2013;310(7):731–741. doi: 10.1001/jama.2013.276185.
    1. Young T, Skatrud J, Peppard PE. Risk factors for obstructive sleep apnea in adults. JAMA. 2004;291(16):2013–2016. doi: 10.1001/jama.291.16.2013.
    1. Lindberg E, Benediktsdottir B, Franklin KA, Holm M, Johannessen A, Jögi R, et al. Women with symptoms of sleep-disordered breathing are less likely to be diagnosed and treated for sleep apnea than men. Sleep Med. 2017;35:17–22. doi: 10.1016/j.sleep.2017.02.032.
    1. Phillips CL, O'Driscoll DM. Hypertension and obstructive sleep apnea. Nat Sci Sleep. 2013;5:43–52. doi: 10.2147/NSS.S34841.
    1. Tenconi R, Khirani S, Amaddeo A, Michot C, Baujat G, Couloigner V, et al. Sleep-disordered breathing and its management in children with achondroplasia. Am J Med Genet A. 2017;173(4):868–878. doi: 10.1002/ajmg.a.38130.
    1. Zaffanello M, Cantalupo G, Piacentini G, Gasperi E, Nosetti L, Cavarzere P, et al. Sleep disordered breathing in children with achondroplasia. World J Pediat. 2017;13(1):8–14. doi: 10.1007/s12519-016-0051-9.
    1. Afsharpaiman S, Sillence DO, Sheikhvatan M, Ault JE, Waters K. Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. Sleep Breath. 2011;15(4):755–761. doi: 10.1007/s11325-010-0432-6.
    1. Lumeng JC, Chervin RD. Epidemiology of pediatric obstructive sleep apnea. Proc Am Thorac Soc. 2008;5(2):242–252. doi: 10.1513/pats.200708-135MG.
    1. Fredwall SO, Maanum G, Johansen H, Snekkevik H, Savarirayan R, Lidal IB. Current knowledge of medical complications in adults with achondroplasia: a scoping review. Clin Genet. 2020;97(1):179–197. doi: 10.1111/cge.13542.
    1. Julliand S, Boule M, Baujat G, Ramirez A, Couloigner V, Beydon N, et al. Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia. American journal of medical genetics Part A. 2012;158a(8):1987–93.
    1. Savarirayan R, Tunkel DE, Sterni LM, Bober MB, Cho TJ, Goldberg MJ, et al. Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. Orphanet J Rare Dis. 2021;16(1):31. doi: 10.1186/s13023-021-01678-8.
    1. Collins WO, Choi SS. Otolaryngologic manifestations of achondroplasia. Arch Otolaryngol Head Neck Surg. 2007;133(3):237–244. doi: 10.1001/archotol.133.3.237.
    1. Booth KL, Levy DA, White DR, Meier JD, Pecha PP. Management of obstructive sleep apnea in children with achondroplasia: outcomes of surgical interventions. Int J Pediat Otorhinolaryngol. 2020;138:110332.
    1. Hoover-Fong J, Scott CI, Jones MC. Health Supervision for People With Achondroplasia. Pediatrics. 2020;145(6).
    1. Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129–134. doi: 10.1136/adc.2010.189092.
    1. Fredwall SO, Steen U, de Vries O, Rustad CF, Eggesbø HB, Weedon-Fekjær H, et al. High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study. Orphanet J Rare Dis. 2020;15(1):123. doi: 10.1186/s13023-020-01397-6.
    1. American Academy of Sleep Medicine. International classification of sleep disorders. 3rd Edition. American Academy of Sleep Medicine. 2014.
    1. Sateia MJ. International classification of sleep disorders-third edition: highlights and modifications. Chest. 2014;146(5):1387–1394. doi: 10.1378/chest.14-0970.
    1. Williams B, Mancia G, Spiering W, Agabiti Rosei E, Azizi M, Burnier M, et al. 2018 ESC/ESH guidelines for the management of arterial hypertension. Eur Heart J. 2018;39(33):3021–3104. doi: 10.1093/eurheartj/ehy339.
    1. Cairns A, Wickwire E, Schaefer E, Nyanjom D. A pilot validation study for the NOX T3(TM) portable monitor for the detection of OSA. 2014;18(3):609–14.
    1. Chung F, Yegneswaran B, Liao P, Chung SA, Vairavanathan S, Islam S, et al. Validation of the Berlin questionnaire and American Society of Anesthesiologists checklist as screening tools for obstructive sleep apnea in surgical patients. Anesthesiology. 2008;108(5):822–830. doi: 10.1097/ALN.0b013e31816d91b5.
    1. Hrubos-Strom H, Randby A, Namtvedt SK, Kristiansen HA, Einvik G, Benth J, et al. A Norwegian population-based study on the risk and prevalence of obstructive sleep apnea. The Akershus Sleep Apnea Project (ASAP). Journal of sleep research. 2011;20(1 Pt 2):162–70.
    1. 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(7):485–491. doi: 10.7326/0003-4819-131-7-199910050-00002.
    1. Tan HL, Kheirandish-Gozal L, Abel F, Gozal D. Craniofacial syndromes and sleep-related breathing disorders. Sleep Med Rev. 2016;27:74–88. doi: 10.1016/j.smrv.2015.05.010.
    1. Zaffanello M, Antoniazzi F, Tenero L, Nosetti L, Piazza M, Piacentini G. Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders. Ann Transl Med. 2018;6(17):343. doi: 10.21037/atm.2018.07.13.
    1. Lyford-Pike S, Hoover-Fong J, Tunkel DE. Otolaryngologic manifestations of skeletal dysplasias in children. Otolaryngol Clin North Am. 2012;45(3):579–598. doi: 10.1016/j.otc.2012.03.002.
    1. Okenfuss E, Moghaddam B, Avins AL. Natural history of achondroplasia: A retrospective review of longitudinal clinical data. Am J Med Genet Part A. 2020.
    1. Onodera K, Niikuni N, Chigono T, Nakajima I, Sakata H, Motizuki H. Sleep disordered breathing in children with achondroplasia. Part 2. Relationship with craniofacial and airway morphology. Int J Pediat Otorhinolaryngol. 2006;70(3):453–61.
    1. Moraleda-Cibrián M, Edwards SP, Kasten SJ, Buchman SR, Berger M, O'Brien LM. Obstructive sleep apnea pretreatment and posttreatment in symptomatic children with congenital craniofacial malformations. J Clin Sleep Med. 2015;11(1):37–43. doi: 10.5664/jcsm.4360.
    1. Kohler M. Risk factors and treatment for obstructive sleep apnea amongst obese children and adults. Curr Opin Allergy Clin Immunol. 2009;9(1):4–9. doi: 10.1097/ACI.0b013e32831d8184.
    1. Bassetti CLA, Randerath W, Vignatelli L, Ferini-Strambi L, Brill AK, Bonsignore MR, et al. EAN/ERS/ESO/ESRS statement on the impact of sleep disorders on risk and outcome of stroke. The European respiratory journal. 2020;55(4).
    1. Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT. Mortality in achondroplasia study: a 42-year follow-up. Am J Med Genet A. 2007;143A(21):2502–2511. doi: 10.1002/ajmg.a.31919.
    1. Hoover-Fong J, Alade AY, Ain M, Berkowitz I, Bober M, Carter E, et al. Blood pressure in adults with short stature skeletal dysplasias. Am J Med Genet A. 2020;182(1):150–161. doi: 10.1002/ajmg.a.61402.
    1. Patil SP, Ayappa IA, Caples SM, Kimoff RJ, Patel SR, Harrod CG. Treatment of adult obstructive sleep apnea with positive airway pressure: an American academy of sleep medicine clinical practice guideline. J Clin Sleep Med. 2019;15(2):335–343. doi: 10.5664/jcsm.7640.
    1. Won C, Guilleminault C. Gender differences in sleep disordered breathing: implications for therapy. Exp Rev Respir Med. 2015;9(2):221–231. doi: 10.1586/17476348.2015.1019478.
    1. Dingli K, Coleman EL, Vennelle M, Finch SP, Wraith PK, Mackay TW, et al. Evaluation of a portable device for diagnosing the sleep apnoea/hypopnoea syndrome. Eur Respir J. 2003;21(2):253–259. doi: 10.1183/09031936.03.00298103.
    1. Rosen CL, Auckley D, Benca R, Foldvary-Schaefer N, Iber C, Kapur V, et al. A multisite randomized trial of portable sleep studies and positive airway pressure autotitration versus laboratory-based polysomnography for the diagnosis and treatment of obstructive sleep apnea: the HomePAP study. Sleep. 2012;35(6):757–767. doi: 10.5665/sleep.1870.
    1. Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, et al. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet. 2020;396(10252):684–692. doi: 10.1016/S0140-6736(20)31541-5.

Source: PubMed

3
Prenumerera