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

Orphanet J Rare Dis. 2021 Apr 7;16(1):156. doi: 10.1186/s13023-021-01792-7.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Achondroplasia* / epidemiology
  • Adult
  • Child
  • Cross-Sectional Studies
  • Disorders of Excessive Somnolence*
  • Humans
  • Sleep Apnea, Obstructive* / epidemiology
  • Snoring

Associated data

  • ClinicalTrials.gov/NCT03780153