Diagnostic approaches to respiratory abnormalities in craniofacial syndromes

Craniofacial syndromes are a complex cluster of genetic conditions characterized by embryonic perturbations in the developmental trajectory of the upper airway and related structures. The presence of reduced airway size and maladaptive neuromuscular responses, particularly during sleep, leads to significant alterations in sleep architecture and overall detrimental gas exchange abnormalities that can be life-threatening. The common need for multi-stage therapeutic interventions for these craniofacial problems requires careful titration of anatomy and function, and the latter is currently evaluated by overnight polysomnography in sleep laboratories. The cost, inconvenience, and scarcity of pediatric sleep laboratories preclude the frequent evaluations that could optimize the overall process of treatment and corresponding outcomes. Here, we critically examine reductionist approaches to polysomnography in children to establish the parallel approximation of such techniques to infant with craniofacial disorders. The need for prospective longitudinal multicenter studies with side-by-side comparisons aimed at identifying an optimal diagnostic and long-term monitoring paradigm for these potentially life-threatening conditions is emphasized.