Genomic variants and genotype–phenotype interactions in pediatric sleep-related breathing disorders

OSAS in children Obstructive sleep apnea syndrome (OSAS) is a common disorder in the pediatric age range with an estimated prevalence of up to 3–4% of all children between the ages of 1–8 years [1]. Children suffering from OSAS develop recurring events characterized by either increased upper airway resistance or complete intermittent obstruction of the upper airway during sleep, which in turn promote increased intrathoracic pressure swings, episodic oxygen desaturations and hypercapnia, as well as inducing recurrent arousals from sleep that promote the occurrence of daytime sleepiness [2–4]. Of note, the increased sleep propensity associated with OSAS has been linked to reduced physical activity along with increased appetite particularly for energy-dense foods [5].The pathophysiological mechanisms of OSAS in children. Four major factors have been identified as playing complex interactive roles in pediatric OSAS, namely craniofacial and anatomical factors, lymphoid tissue growth contributions, upper airway inflammation, and neuromuscular reflexes.