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Volume 14 No. 04
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Accepted Papers


Getting Personal with Down Syndrome and Obstructive Sleep Apnea

Benjamin H. Hughes, MD
Department of Pediatrics, Section of Pulmonary Medicine, The University of Colorado School of Medicine, Aurora, Colorado

Obstructive sleep apnea (OSA) is highly prevalent among individuals with Down syndrome (DS)1 and has been associated with a myriad of adverse neurocognitive, cardiovascular, and metabolic sequelae.210 Adenotonsillectomy (AT) is considered first-line therapy for OSA in children, yet a majority of patients with DS have residual OSA following AT and therefore require additional surgical and nonsurgical interventions.11 Positive airway pressure (PAP) therapy is effective for treatment of OSA but often poorly tolerated in children.12 Beyond these two treatment modalities that were pioneered decades ago, a range of novel therapeutic approaches including additional upper airway surgery (such as lingual tonsillectomy and tongue base reduction), medical therapies with leukotriene receptor antagonists and intranasal corticosteroids, heated high flow nasal cannula, and hypoglossal nerve stimulator implantation have been trialed with variable success as alternative treatments for PAP-intolerant individuals with OSA refractory to AT.1318

In the present era of increasingly personalized medicine, much progress has been made in identifying anatomic and functional OSA phenotypes in the general adult population to better predict response to various treatment modalities.19 However, treatment of OSA in children—particularly those with DS—lags behind and often involves a trial and error approach that can impose unnecessary surgical risks and/or delays in achieving optimal OSA treatment. Prior efforts utilizing drug-induced sleep endoscopy have not been successful in identifying predictors of response to AT in individuals with Down syndrome and OSA.20 In this issue of the Journal of Clinical Sleep Medicine, Slaats and colleagues21 offer novel insights in applying upper airway imaging to predict treatment outcome of AT in individuals with DS and OSA; in doing so, the authors make an important foray into the realm of personalized medicine for individuals with DS.

The authors prospectively enrolled 33 children with DS and OSA and examined the relationship between preoperative upper airway imaging with ultra-low dose computed tomography (CT) and response to AT. Polysomnographic outcomes were measured before and after AT to identify preoperative upper airway imaging findings that predict a favorable treatment response. The authors observed an important dichotomy between those that responded favorably to AT (mean obstructive apnea-hypopnea index decreasing from 20.3 events/h at baseline to 4.4 events/h after AT) and those that did not (mean obstructive apnea-hypopnea index increasing from 9.5 events/h at baseline to 15.4 events/h after AT). Those that did not respond to AT had a substantially lower cross-sectional area below the level of the tonsils. Accordingly, the authors identified a positive correlation between cross-sectional area in regions below the level of the tonsils and amplitude of reduction in obstructive apnea-hypopnea index following AT.

The upper airway imaging techniques implemented in this study are minimally invasive and demonstrate strong potential in predicting response to AT. At minimum, the finding that individuals with low cross-sectional area in regions below the level of the tonsils are unlikely to respond favorably to AT should challenge the existing paradigm of OSA treatment in individuals with DS as a staged approach beginning with AT alone. These results also open the door for further research aimed at personalizing OSA treatment in children with DS. Can similar techniques match individual patients with optimal single or combined surgical interventions or, conversely, identify individuals unlikely to respond to any airway surgery? Can response to nonsurgical treatments for OSA be predicted? Answers to such questions will reduce unnecessary surgical risks and expedite optimal treatment of OSA in this medically complex population.


Work for this study was performed at The University of Colorado School of Medicine, Department of Pediatrics, Section of Pulmonary Medicine. The author has seen and approved the manuscript. The author reports no conflicts of interest.


Hughes BH. Getting personal with Down syndrome and obstructive sleep apnea. J Clin Sleep Med. 2018;14(4):501–502.



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