The NHLBI convened a pediatric strategic planning work group in July 2008 to review and make recommendations for priority future directions in pediatric respiratory biology and disease. This group identified the lack of knowledge regarding development and growth of the upper airway. Although the developmental biology portfolio in the Division of Lung Diseases has made significant contributions to the understanding of lung and lower airway development, science to address the upper and large airways is lacking. Therefore, NHLBI convened a workshop in March 2009 with co-sponsor, Office of Rare Diseases, NIH, attended by clinicians and scientists from diverse fields in healthcare and the biological sciences, to determine research questions and areas of priority related to the pediatric upper airway.
The upper airway, defined as the air-conducting passages from the level of the nose to the carina, is susceptible to congenital and acquired abnormalities that affect up to 3% of the pediatric population (1
). The upper airway serves the primary purposes of respiration, deglutition, clearance of secretions, separation of nasal and oral passageways, and phonation. These vital functions often occur simultaneously, requiring precise coordination of its multiple anatomical subcomponents. Not uncommonly, infants and children present with multiple levels of upper airway anomalies and incoordination, creating a challenging diagnostic and treatment dilemma. The range of upper airway anomalies is broad and can include a combination of morphologic, neuromuscular, mucosal, bony, and cartilaginous deficits. Inherent to upper airway anomalies is a high morbidity and mortality, need for specialized chronic care, disproportionate allocation of resources, and a poor quality of life. Intensive care units for neonates and children care for an increasing number of children with these types of airway problems. Treatment options for upper airway anomalies are most commonly surgical, may only provide a partial restoration of function, and often create other short- and long-term morbidities. While these treatment options are helpful, they do not typically address the underlying pathophysiology. The advancement of effective intervention remains limited by a lack of knowledge regarding molecular and pathophysiologic mechanisms of development, growth, and the response of tissues to injury. In the following sections, we review the known developmental aspects of the upper airway and outline potential areas of investigation with the ultimate goals of improved patient care, quality of life, and decreased financial burden to society. Priority areas for research are presented. These areas were selected because they are highly relevant to clinical disorders associated with abnormal upper airway function, and because a focused research effort would rapidly advance our understanding of the area. However, it is recognized that these priority areas are not exclusive.