American Thoracic Societv MEDICAL SECTION OF THE AMERICAN LUNG ASSOCIAflON Idiopathic Congenital Central Hypoventilation Syndrome Diagnosis and Management THIS OFFICIAL STATEMENT OF THE AMERICAN THORACIC SOCIETY WAS ADOPTED BY THE ATS BOARD

1. To improve general knowledge regarding idiopathic congenital central hypoventilation syndrome (CCHS), with recognition that because of the rarity of CCHS, many practitioners have not seen a case and therefore do not make the diagnosis in a timely manner. 2. To minimize time delays between onset of clinical symptoms and the diagnosis of CCHS, thereby decreasing initial health care costs and minimizing exposure to significant asphyxia and the development of car pulmonale. 3. To familiarize practitioners with available diagnostic and treatment options, home health care options, and longterm outcomes. Because there may not be an intrinsic risk of neurodevelopmental sequelae due to CCHS, normal neurologic outcome should be achievable assuming that a timely diagnosis can be made and the infant managed appropriately so as to avoid acute and chronic asphyxia. Because mortality in CCHS appears to be primarily related to acute or chronic asphyxia, optimal long-term ventilatory and tracheostomy care (acute asphyxia) and prevention of car pulmonale (due to chronic asphyxia) can minimize this risk. 4. To identify available referral options for state-of-the-art diagnosis and treatment, including resources for long-term evaluations. Access to a sleep laboratory that evaluates children is not sufficient. Infants with CCHS need to be evaluated in pediatric referral centers that have expertise in this category of abnormality both from the diagnostic and treatment perspectives, and have the interest and expertise to provide and/or coordinate the long-term followup. 5. To recognize the important concepts about respiratory control and state-related cardiorespiratory and autonomic function that can be learned from the care of children with CCHS.