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Congenital central hypoventilation syndromes and other disorders of ventilation

Assessment and Treatment of Infant Sleep, Page: 99-112
2025
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Book Chapter Description

Hypoventilation disorders can occur due to impairment in central ventilatory control, mechanical restrictions to breathing, gas exchange abnormalities from increased dead space, and ventilation-perfusion mismatch. Central hypoventilation disorders are rare in infants but have resultant deleterious effects when left untreated. Congenital central hypoventilation syndrome involves a genetically determined defect in central respiratory control. Other conditions such as rapid-onset obesity, hypoventilation, hypothalamic dysregulation, and autonomic dysfunction do not have an identifiable genetic etiology, and diagnosis is based on the clinical presentation. Considering the immaturity of the respiratory system in children, treatment of ventilation disorders can be challenging. Prompt diagnosis and management with a multidisciplinary team can, however, be life-altering. This chapter reviews congenital central hypoventilation syndrome and some of the other disorders of ventilation in infants and children.

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