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Related Experiment Video

Updated: May 12, 2026

Drug-Induced Sleep Endoscopy (DISE) with Target Controlled Infusion (TCI) and Bispectral Analysis in Obstructive Sleep Apnea

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Published on: December 6, 2016

Genotype-phenotype interactions in pediatric obstructive sleep apnea.

Leila Kheirandish-Gozal¹, David Gozal

¹Sections 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.

Respiratory Physiology & Neurobiology

|April 9, 2013

Summary

Pediatric sleep disordered breathing (PSDB) affects 2-4% of children, risking end-organ damage. Understanding PSDB phenotype variability is crucial for identifying at-risk children and improving diagnostic strategies.

Keywords:

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

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Area of Science:

Pediatric pulmonology
Sleep medicine
Genetics and developmental biology

Background:

Pediatric sleep disordered breathing (PSDB) is a common condition in 2-4% of children.
PSDB is linked to significant end-organ injury, dysfunction, and long-term health issues.
Current diagnostic and treatment algorithms are limited by the inability to predict which children are most vulnerable to PSDB complications.

Purpose of the Study:

To explore the underlying mechanisms contributing to phenotypic variability in PSDB.
To propose a conceptual framework for advancing knowledge and improving management of PSDB.

Main Methods:

Review and synthesis of existing literature on PSDB.
Analysis of potential genetic and environmental factors influencing PSDB phenotypes.
Development of a conceptual model for PSDB research.

Main Results:

Phenotypic variability in PSDB is influenced by a complex interplay of factors.
Identifying these factors is key to stratifying risk and personalizing treatment.
A structured approach is needed to advance understanding of PSDB.

Conclusions:

Further research into the mechanisms of PSDB phenotype variance is essential.
A conceptual framework can guide future studies and clinical practice.
Improved understanding will lead to better prediction and management of PSDB in children.