What Are the Best Practices in CCHS Monitoring?

A multidisciplinary team approach to the management of CCHS is essential to ensuring proper ventilation and development of children with CCHS. Local children’s hospitals may be sufficient in the management of CCHS. In complex cases, CCHS specialists (please refer to the Physician List page of the Resources section) can be found throughout the world and can be consulted, or seen for management of CCHS. Primary team members who play an active role in patient management should include: the primary caregivers (parents or family members), pulmonologists, cardiologists, ENT physicians, gastroenterologists, endocrinologists, neurologists, ophthalmologists, social workers, and speech/language pathologists (SLPs).

Early detection and management of CCHS with adequate ventilation and appropriate therapies have helped CCHS patients live fulfilling lives. Proper management has allowed CCHS patients to seek higher education, enter the work force and have families of their own.

Please refer to the Signs and Symptoms page beneath the What is CCHS? tab for additional information.

Routine Clinical Testing and Work-Up

The 2010 American Thoracic Society (ATS) statement on CCHS recommends:

    • CCHS patients undergo annual assessment of spontaneous breathing awake, as well as during sleep in a pediatric respiratory physiology laboratory.
    • Bronchoscopy performed by an experienced pediatric otolaryngologist every 12 to 24 months will allow for early diagnosis of granulomas or other airway abnormalities.
    • At minimum, a 72-hour Holter study should also be performed annually to evaluate for 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 (cor pulmonale) that occur as a consequence of inadequate ventilation.
    • Consultation with a gastroenterologist (and possibly rectal biopsy) may be needed for patients with constipation to evaluate for Hirschsprung’s disease.
    • In patients with PARM mutations 20/29 and higher, and patients with NPARM mutations, routine serial chest and abdominal imaging is crucial for detecting emergence of a neural crest tumor, specifically neuroblastoma (NPARMs) and ganglioneuroblastoma/ganglioneuroma (PARMs).
    • Ophthalmologic testing may also need to be done in some patients to assess for ophthalmologic dysfunction.