Differences in upper airway endotype among phenotypically different pediatric OSA patients.

STUDY

OBJECTIVES

To study differences in upper airway (UA) endotype revealed by drug induced sleep endoscopy (DISE) among phenotypically different children with obstructive sleep apnea.

METHODS

A retrospective cohort study was conducted in children under 18 years with polysomnography-confirmed obstructive sleep apnea (OSA) who underwent DISE at a tertiary care center. Five different phenotypes were defined: children <2 years, typically developing children between 2 and 12 years, children with obesity, children with Down syndrome, and children with craniofacial abnormalities. Differences in upper airway endotype were explored across these five phenotypes.

RESULTS

We included 65 surgically naïve children, with severe OSA (obstructive apnea/hypopnea index 15.6 events/h). Phenotypic classification yielded 27 young children below 2 years, 17 typically developing children 2-12 years, 11 with Down syndrome, four children with a congenital craniofacial abnormality and six obese patients. Adenotonsillar obstruction was the dominant pattern across all phenotypes. Multilevel collapse with supraglottic involvement (epiglottis and arytenoids) was common, occurring in 63% of children <2 years and in 73% of those with Down syndrome. Upper airway obstruction was limited to adenoids and tonsils in the obese phenotype, suggesting involvement of other endotypes. Young and obese children had more severe OSA with higher obstructive apnea/hypopnea indices and more severe hypoxemia.

CONCLUSIONS

Phenotypic stratification in surgically naïve children with OSA reveals differences in UA endotype and disease severity. These findings support integrating clinical phenotypes into diagnostic and treatment algorithms to improve surgical planning and reduce the risk of persistent disease.