‘Personalized medicine’: phenotyping pediatric obstructive sleep apnea

Abstract

Purpose of review Obstructive sleep apnea (OSA) is common in children. Phenotyping pediatric OSA has a crucial role in personalized diagnosis and treatment to improve outcomes for this population. This review sets forth a clinical approach that allows for phenotyping pediatric OSA. Recent findings The emerging concept of phenotyping pediatric OSA is based on identifying a primary cause, which leads to a more precise understanding of the pathogenesis in any individual patient. Phenotyping enables treatment focusing on the primary cause, but does not exclude the need for supplemental management strategies based on other recognizable traits. The identification of pediatric OSA phenotypes (POP) relies on observable characteristics with significant prevalence. This review will concentrate on the most important phenotypes seen in clinical practice: pediatric OSA with craniofacial abnormalities (POPCA); OSA with upper airway disease (POPUAD); OSA with obesity (POPO), and OSA associated with neuromuscular disease (POPNED). Summary Phenotyping pediatric OSA is a form of personalized medicine. By identifying clinical subtypes, individualized treatment plans can be devised in order to choose therapies that are associated with predictable responses. Moreover, it is rare that a therapeutic modality is devoid of possible complications; knowledge of the phenotype being treated can enable early intervention should those occur. Finally, all of the aforementioned phenotypes require personalized support incorporating individualized care plans so as to optimize the quality of life and overall sleep health of children with OSA.