Abstract
To determine the prevalence of obstructive sleep apnea (OSA) in adults with Down syndrome (DS), to investigate factors related to OSA severity and to identify which sleep questionnaire is the most appropriate for the screening of OSA in this population. Cross-sectional study that consecutively included 60 adults with DS. All patients underwent type III polysomnography and clinical and laboratory data were collected; sleep assessment questionnaires were applied. Multiple linear regression models evaluated the associations between OSA severity (measured by the respiratory event index-REI) and clinical and laboratory data and sleep questionnaires (Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, BERLIN and STOP-Bang questionnaires). Results show that 60 (100%) adults with DS had OSA, with moderate-severe OSA identified in 49 (81.6%). At the multivariate linear regression, REI significantly correlated with hematocrit levels, BMI and STOP-Bang questionnaire (SBQ) results (P <0.001). The positive STOP-Bang ≥3 points) showed 100% of sensitivity (95%CI: 92.75-100%), 45.45% of specificity (95%CI: 16.75-76.62), positive predictive value of 89.09% (95%CI: 82.64-93.34%), negative predictive value of 100%, accuracy of 90% (95%CI: 79.49-96.24%) and OR of 24.29. Adults with DS have a very high prevalence of OSA. Hematocrit levels, BMI and SBQ showed a strong correlation with OSA severity. The SBQ performed well in identifying moderate to severe OSA in this population. Considered together, these results point to the need to perform OSA screening in all adults with DS, and STOP-Bang may play a role in this screening.
Highlights
Down syndrome (DS) is the most prevalent chromosomal abnormality, with approximately 5.4 million affected individuals worldwide [1], with 206,000 of these patients in the United States [2]
At the multivariate linear regression, respiratory event index (REI) significantly correlated with hematocrit levels, BMI and STOP-Bang questionnaire (SBQ) results (P
The positive STOP-Bang 3 points) showed 100% of sensitivity (95%CI: 92.75–100%), 45.45% of specificity (95%CI: 16.75–76.62), positive predictive value of 89.09% (95%CI: 82.64–93.34%), negative predictive value of 100%, accuracy of 90% (95%CI: 79.49–96.24%) and odds ratio (OR) of 24.29
Summary
Down syndrome (DS) is the most prevalent chromosomal abnormality, with approximately 5.4 million affected individuals worldwide [1], with 206,000 of these patients in the United States [2]. The higher prevalence and severity of OSA in patients with DS is related to the phenotypic characteristics of DS itself These changes include upper airway hypotonia, midface hypoplasia, mandibular hypoplasia, glossoptosis, lingual tonsil hypertrophy, pharyngomalacia, laryngomalacia, and tonsil / adenoid hypertrophy. Factors such as obesity and hypothyroidism, which are frequently observed in individuals with DS, favor OSA onset. [12] As for adult patients with DS, the recommendation is to perform OSA screening, but it is not clearly defined how the screening should be performed (e.g., using a questionnaire or through polysomnography), nor the periodicity of this screening (e.g., annual or biannual assessment). Another important issue is that, for the adult population with DS, there are no validated questionnaires for OSA screening and there is no specific recommendation on which questionnaire should be applied to this special group of patients
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