• CCHS patients should undergo an annual assessment of spontaneous breathing both awake and asleep in a pediatric respiratory physiology laboratory.
• For patients with a tracheostomy, a bronchoscopy should be performed by an experienced pediatric otolaryngologist every 12 to 24 months to allow for early diagnosis of granulomas or other airway abnormalities.
• At minimum, an annual 72-hour Holter study should be performed to detect cardiac pauses. Pauses greater than 3.0 seconds should be assessed for cardiac pacemaker implantation by a cardiologist.
• An echocardiogram, hematocrits, and reticulocyte counts may also be needed to evaluate for signs of heart problems that occur as a consequence of inadequate ventilation.
• Consultation with a gastroenterologist (and possibly rectal biopsy) may be needed for patients with constipation to detect Hirschsprung’s disease.
• In patients with PARM mutations 20/29 and higher as well as patients with NPARM mutations, routine serial chest and abdominal imaging is crucial for detecting the emergence of a neural crest tumor, specifically neuroblastoma (NPARMs) and ganglioneuroblastoma/ganglioneuroma (PARMs).
• Ophthalmologic testing may be needed in some patients to assess for visual dysfunction.

Recommended Overviews of CCHS Diagnosis, Symptoms, and Treatment: 

• Guidelines for diagnosis and management of congenital central hypoventilation syndrome. Trang et al. Orphanet Journal of Rare Diseases (2020) 15:252. 
• An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome Genetic Basis, Diagnosis, and Management. Weese-Mayer et al. Am J Respir Crit Care Med Vol 181. pp 626–644, 2010.