Send to

Choose Destination
Respir Physiol Neurobiol. 2013 Nov 1;189(2):338-43. doi: 10.1016/j.resp.2013.03.016. Epub 2013 Apr 3.

Genotype-phenotype interactions in pediatric obstructive sleep apnea.

Author information

Sections of Pediatric Sleep Medicine and Pediatric Pulmonology, Department of Pediatrics, Comer Children's Hospital, Pritzker School of Medicine, The University of Chicago, Chicago, IL, United States. Electronic address:


Pediatric sleep disordered breathing (PSDB) is not only a very frequent condition affecting 2-4% of all children, but is also associated with an increased risk for a variety of manifestations underlying end-organ injury and dysfunction that impose both immediate and potentially long-term morbidities and corresponding inherent elevations in healthcare costs. One of the major problems with the creation of valid algorithms aiming to stratify diagnostic and treatment prioritization lies in our current inability to predict and identify those children who are most at-risk for PSDB-induced adverse consequences. Thus, improved our understanding of the mechanisms governing phenotype variance in PSDB is essential. Here, we examine some of the potential underpinnings of phenotypic variability in PSDB, and further propose a conceptual framework aimed at facilitating the process of advancing knowledge in this frequent disorder.


Adenotonsillar hypertrophy; Epigenetics; Genotype–phenotype interactions; Intermittent hypoxia; Obstructive sleep apnea syndrome; Pediatric sleep disordered breathing; Sleep fragmentation; Upper airway

[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center