Central sleep apnea (CSA) is a heterogeneous and relatively rare sleep breathing disorder characterized by recurrent reductions in respiratory drive and airflow during sleep. Its complex and not fully understood pathophysiology reflects challenges in respiratory control mechanisms. CSA is associated with cardiovascular, neurologic, systemic, and genetic conditions, and remains a key area for further research, particularly in improving diagnosis and understanding mechanisms. This article outlines the definition, diagnostic approaches, classification, and provides an overview of the underlying pathophysiology of CSA.
Breathing problems are the root cause of the most common and serious of the sleep disorders. Respiratory dysfunction can manifest only during sleep or can be present in wakefulness and made worse by sleep. This article identifies foundational concepts and principles of the control of breathing to explain why the respiratory system is vulnerable in sleep. The relation of these foundational concepts and principles to the spectrum of clinical sleep-related breathing problems are identified. Ultimately, understanding such mechanisms is the basis of rational strategies to improve breathing in sleep and the clinical course.
This chapter presents a comprehensive overview of central sleep apnea (CSA) and central hypoventilation disorders in the pediatric population. It places particular emphasis on children with complex medical conditions and genetic syndromes, including congenital central hypoventilation syndrome (CCHS) and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome.In addition, the chapter examines related conditions such as Prader-Willi syndrome and other hypoventilation disorders arising from structural or functional abnormalities, including Chiari malformations and Leigh syndrome. It reviews current knowledge of the pathogenesis, epidemiology, clinical presentation, and diagnostic evaluation of these disorders in children, and concludes with evidence-based guidance for their management and treatment.
