Other findings treated as per standard practice include Hirschsprung disease and other gastrointestinal motility issues tumors of neural crest origin and cognitive impairment/delay. Prolonged transient asystoles that may present as syncope and/or staring spells and are of significant duration (≥3.0 seconds) may warrant placement of a cardiac pacemaker abnormal pupillary reactivity may necessitate protective eye wear given the amount of light exposure in daily life from LED lights, and screen time in educational settings, computer-based work environments, and mobile devices. The treatment goals for CCHS are to secure the airway and to use chronic artificial ventilatory support at home to compensate for the hypoventilation and the altered/absent ventilatory responses to hypoxemia and hypercarbia. Treatment of manifestations: Management by multidisciplinary specialists, including pediatric pulmonology, sleep medicine, cardiology, oncology, ophthalmology, gastroenterology, neurodevelopmental psychology, and neurology, is recommended. The diagnosis of CCHS is established in a proband with suggestive findings and a heterozygous PHOX2B pathogenic variant identified on molecular genetic testing. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD. Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep ANSD including decreased heart rate beat-to-beat variability and sinus pauses altered temperature regulation and altered pupillary response to light. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). 6 Professor, Departments of Pediatrics, Neurological Sciences, and Biochemistry, Co-Director, Molecular Diagnostics Laboratory, Rush University Medical Center, Chicago, IllinoisĬongenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. 5 Founder and Co-Director, Center for Craniofacial and Dental Genetics, Distinguished Professor, Department of Oral Biology, School of Dental Medicine, Professor, Department of Human Genetics, Graduate School of Public Health, Professor, Clinical and Translational Science, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.4 Assistant Professor of Pathology, Northwestern University Feinberg School of Medicine, Director, Molecular Diagnostics Laboratory, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois.3 Assistant Professor of Pediatrics, Northwestern University Feinberg School of Medicine, Division of Autonomic Medicine, Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, Illinois.2 Senior Research Manager, Division of Autonomic Medicine, Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, Illinois.1 Professor of Pediatrics and Beatrice Cummings Mayer Professor of Pediatric Autonomic Medicine, Northwestern University Feinberg School of Medicine, Chief, Division of Autonomic Medicine, Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, Illinois.
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