Routine monitoring is important in CCHS. Early detection gives the patient the best chance for getting the right treatment quickly, avoiding any complications.
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.
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