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Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach
- Publication Year :
- 2022
-
Abstract
- Ajay S Kasi,1 Hong Li,2 Kelli-Lee Harford,1 Humphrey V Lam,3 Chad Mao,4 April M Landry,5 Sarah G Mitchell,6 Matthew S Clifton,7 Roberta M Leu1 1Department of Pediatrics, Division of Pediatric Pulmonology and Sleep Medicine, Emory University, Childrenâs Healthcare of Atlanta, Atlanta, GA, USA; 2Department of Human Genetics, Emory University, Childrenâs Healthcare of Atlanta, Atlanta, GA, USA; 3Division of Pediatric Anesthesiology, Emory University, Childrenâs Healthcare of Atlanta, Atlanta, GA, USA; 4Department of Pediatrics, Division of Pediatric Cardiology, Emory University, Childrenâs Healthcare of Atlanta, Atlanta, GA, USA; 5Division of Pediatric Otorhinolaryngology, Emory University, Childrenâs Healthcare of Atlanta, Atlanta, GA, USA; 6Department of Pediatrics, Division of Pediatric Hematology and Oncology, Emory University, Childrenâs Healthcare of Atlanta, Atlanta, GA, USA; 7Division of Pediatric Surgery, Emory University, Childrenâs Healthcare of Atlanta, Atlanta, GA, USACorrespondence: Ajay S Kasi, Department of Pediatrics, Division of Pediatric Pulmonology and Sleep Medicine, Emory University, Childrenâs Healthcare of Atlanta, 1400 Tullie Road NE, Atlanta, GA, 30329, USA, Tel +1 404 785 5437, Fax +1 404 785 9087, Email ajay.kasi@emory.eduAbstract: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder affecting respiratory control and autonomic nervous system function caused by variants in the paired-like homeobox 2B (PHOX2B) gene. Although most patients are diagnosed in the newborn period, an increasing number of patients are presenting later in childhood, adolescence, and adulthood. Despite hypoxemia and hypercapnia, patients do not manifest clinical features of respiratory distress during sleep and wakefulness. CCHS is a lifelong disorder. Patients require assisted ventilation throughout their life delivered by positive pressure ventilation via tracheostomy, noninvasive positive pressure ventilation, and/or diaphrag
Details
- Database :
- OAIster
- Notes :
- text/html, English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1320799361
- Document Type :
- Electronic Resource