Abstract
BackgroundPrevious 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.ObjectivesThis population-based, cross-sectional study investigated the prevalence, severity, and predictive factors of OSA in Norwegian adults with achondroplasia.MethodsWe 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.ResultsOSA 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.ConclusionOSA 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.
Highlights
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
OSA was highly prevalent in Norwegian adults with achondroplasia, which we believe is representative of this population worldwide
Study population and clinical characteristics Forty-nine of the 50 participants in The Norwegian Adult Achondroplasia Study were included in this study (27 men and 22 women)
Summary
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. The condition is caused by a gain-of-function mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, resulting in disturbed bone growth, affecting the Obstructive sleep apnea (OSA) is a breathing disorder characterized by narrowing of the upper airway that. In the average-statured adult population, the estimated prevalence of OSA is 4–6% when OSA is defined as an apnea–hypopnea index (AHI) of ≥ 15, or an AHI ≥ 5 plus characteristic symptoms [9, 12]. We are not aware of previous clinical studies investigating prevalence and severity of OSA in adults with achondroplasia [17]
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