Individuals with CCHS cannot sense oxygen or carbon dioxide levels in their body. Ventilatory treatment is needed to optimize oxygenation and ventilation in these patients. Depending on the severity of CCHS, the degree of life-long ventilatory support can vary from sleep only to constant support. CCHS does not resolve spontaneously or improve with advancing age. Weaning from the ventilator is not a realistic goal and should not be considered in CCHS. Children with CCHS cannot be ‘‘trained’’ to breathe adequately, either. Drug interventions are currently unavailable to treat CCHS. Sedative medications and central nervous system depressants should be avoided as much as possible, as they worsen the hypoventilation.
In-home chronic ventilator support is necessary for optimal health outcomes. Ventilatory support should be matched to ventilatory demands of CCHS patients. A reasonable blood gas range is PETCO2 30 to 50 mm Hg (although ideally 35–40 mm Hg) and SpO2 of 95% or higher. It is important to maintain normal oxygenation to avoid risk for deficits in cognition and collateral system damage. Patients/families should work in collaboration with the CCHS specialist to establish adequate blood gas parameters.
1Weese-Mayer D. E., Berry-Kravis, E.M., Ceccherini, I., Keens, T. G., Loghmanee, D. A., and Trang, H. (2010). An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome Genetic Basis, Diagnosis, and Management. American Journal Respiratory Critical Care Medicine, 181, 626–644. DOI: 10.1164/rccm.200807-1069ST
The primary goals are to secure the airway and ensure optimal ventilation and oxygenation with artificial ventilation in a home setting. Some CCHS centers use ‘‘ventilator ladders’’ to manage respiratory needs. Pulse oximetry and PETCO2 monitoring to maintain precise control of gas exchange within a narrow normal range is important to successful home management. Families might want to consider a power generator in the event of a power outage or natural disaster as well as placement on the emergency list of the local power company and fire department to assure the family access to immediate and sustained care. There are four modes of ventilatory support available for CCHS patients.
Figure 1 (courtesy of Avery Biomedical Devices)
Figure 2 (courtesy of Avery Biomedical Devices)
Figure 3 (courtesy of Avery Biomedical Devices)
There are three modes of delivering a negative pressure in order to perform breathing: 1) the chest shell, 2) the Vest, 3) a Port-a-lung. For all three types of NPV negative pressure is delivered to the chest and abdomen to cause an inspiration as the negative pressure causes a suction of the air into the lungs. This mode is infrequently, if ever, used any more.
No mechanical ventilation mode is perfect. Using each has its challenges. In general the following problems are most common: