Treatments and Transitions informed from 2010 ATS Statement1

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

Ventilatory Management

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.

  • The portable positive pressure ventilator is the most common method of providing home mechanical ventilation in CCHS.
  • A tracheostomy is required for positive pressure ventilator access. A tracheostomy tube smaller than the airway caliber may reduce the likelihood of tracheomalacia, allow for a leak adequate to use the Passy-Muir one-way speaking valve while off the ventilator, and allow for a margin of safety if the tube becomes occluded.
  • Signs that a tracheostomy tube size may need to be increased are sometimes subtle but include difficulty achieving adequate gas exchange and a visible plateau on PETCO2 monitoring, having to increase ventilator settings to levels above those of other similar-aged children, more frequent pneumonias, and an audible air leak. A spare tracheostomy tube is necessary as a back-up at all times and should be carried with the Ambu bag for any travel outside of the home.
  • Using the home ventilator in a pressure plateau mode or pressure control mode may compensate for a small leak, although the use of a tight-to-the-shaft cuffed tracheostomy tube may be necessary with some home ventilators.
  • Ideally, a second ventilator in the home for those individuals with CCHS who rely on mechanical ventilation, regardless of the duration of hours of use each day, may prevent emergency admission in the event of ventilator failure.
  • A ventilator circuit is required to deliver air from a positive pressure ventilator to the patient through a heated humidification system connected to the tracheostomy with a swivel adapter. Two to three circuits are generally provided for home care. Circuits should be cleaned and changed routinely.

  • Bilevel ventilators are smaller, less expensive, and generally easier to use than conventional ventilators, but they are not designed for life support.
  • Inspiratory positive airway pressure and expiratory positive airway pressure can be adjusted independently (difference is proportional to tidal volume), maintaining a large inspiratory positive airway pressure to expiratory positive airway pressure difference as tidal volume increases linearly, up to approximately 14 cm H2O.
  • Only the timed mode guarantees breath delivery in children who cannot generate adequate large spontaneous breaths to trigger the ventilator.
  • Bilevel ventilation should not be used outside of sleep time as the mask interferes with daily activities and social interaction, and the risk of skin breakdown increases.
  • Historically, mask ventilation has been associated with mid-face hypoplasia when introduced from infancy or early childhood, however newer mask models may be less impactful on mid-face hypoplasia issues. A pediatric plastic surgeon and orthodontist/oral surgeon should closely follow any child using mask ventilation. Children may require intubation and more sophisticated ventilatory support during acute respiratory illnesses.
  • The major benefit of bilevel ventilation is that a tracheostomy is not required, although successful management with bilevel ventilation is most effective in older children and adults with the milder CCHS phenotypes.
  • Bilevel positive airway pressure ventilation should not be used with a tracheostomy. If a child has a tracheostomy, ventilation is much more reliable and effective using a positive pressure ventilator than using bilevel ventilation.
  • A number of children with CCHS have been successfully transitioned from positive pressure ventilation via tracheostomy to bilevel positive airway pressure ventilation by mask or nasal prongs after 6 to 8 years of age.

  • Diaphragm pacing generates breathing using the child’s own diaphragm.
  • The pacer unit is comprised of a battery-operated external transmitter, 2 external antennas, 2 internal bilateral receivers, 2 internal stainless steel wires, and 2 internal monopolar platinum phrenic nerve electrodes, each wrapped around the 2 phrenic nerves of the patient. The transmitter generates a train of pulses that are transmitted via an external antenna. The antennae create a radio frequency signal that is communicated to the subcutaneously implanted receivers. The subcutaneously implanted receivers convert the radio frequency signal into an electrical current that is transmitted via stainless steel wires connecting the receivers to the monopolar platinum phrenic nerve electrodes. The electrical stimulation of the phrenic nerve causes a diaphragmatic contraction, which generates the breath.
  • Bilateral implantation of phrenic nerve electrodes and diaphragm pacer receivers is recommended to achieve optimal ventilation in children.
  • In general, conservative use of diaphragm pacing is provided in active children with 12 to 15 hours per day typically recommended.
  • For patients who use the diaphragm pacers during sleep time only, the aim is to minimize the need for the mechanical ventilator and potentially remove the tracheostomy.
  • Individual who relies on diaphragm pacing will still require continuous monitoring with pulse oximetry and PETCO2 as well as continuous care by a highly trained registered nurse.
  • Patients who require ventilatory support 24 hours per day should have an alternate form of ventilation for part of the day if pacers are used. Pacers can be used for daytime support of ambulatory children who require full-time ventilatory support, in combination with positive pressure ventilation at night.
  • Obstructive apnea can be a complication of diaphragm pacing during sleep in the decannulated individual as synchronous upper airway skeletal muscle contraction does not occur with paced inspiration. This may be overcome by adjusting settings on the pacers to lengthen inspiratory time and/or decrease the force of inspiration.
  • Patients with CCHS using diaphragm pacing should have spare antennae in the home, as these are the components that most frequently break. It is recommended that all individuals with CCHS who rely on diaphragm pacing have a back-up mode of ventilation available in case of pacer failure.
  • Patients with CCHS using diaphragm pacing should have spare antennae in the home, as these are the components that most frequently break. It is recommended that all individuals with CCHS who rely on diaphragm pacing have a back-up mode of ventilation available in case of pacer failure.
  • Diaphragm pacer implantation of the internal components (receivers, connecting wires, and phrenic nerve electrodes) requires thoracic surgery and hospitalization and should only be implanted ideally by cardiovascular-thoracic surgeons and at a center with extensive expertise in diaphragm pacing and the care of patients with CCHS. If possible, the pacers should be implanted thoracoscopically. After the pacers are implanted, extensive experience in diaphragm pacer management, including the ability to set the pacers with a digital oscilloscope and surface electromyogram recordings, is required for biannual then annual comprehensive in-hospital evaluation.
  • The goal with diaphragm pacing is to minimize the electrical stimulation while providing optimal ventilation and oxygenation.

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.

What are the Most Common Risks with Different Ventilatory Support?

No mechanical ventilation mode is perfect. Using each has its challenges. In general the following problems are most common:

  • Infection: tracheostomy tube may lead to bacterial and viral infections that can spread to the lungs. As a consequence an increased amount of secretions can plug the airways or result in pneumonia. Patients with tracheostomy should be under a constant supervision. Infection can also occur with phrenic nerve pacing and NIV.
  • Leakage: An adequate ventilatory support is crucial to maintain optimal health and prevent complications with other body systems in CCHS patient. Therefore, leakage around the mask must be reduced to the minimum by providing patients with well-fitting mask/prongs. Similarly, a well sealed chest shell or wrap is crucial during negative pressure ventilation.
  • Malfunction: Mechanical equipment can fail. Diaphragm pacing failure can be caused by a faulty (broken) antenna, broken wire between the receiver and electrode, or by a bad electrode on one side of the chest.
  • Airway Occlusion: Obstructive airway disease can occur when breaths are generated by a negative pressure or by phrenic nerve pacing without tracheostomy.

Additional Risks
  • Cardiovascular Management: Some patients with CCHS may require cardiac pacemakers.
  • Gastrointestinal Management: Gastrointestinal treatments range depending on symptoms and diagnosis. Reflux is often treated via medication, while poor upper GI motility may often be managed with therapy and altered diets. Surgical treatment is required for HD.
  • Ophthalmology Management: Managing eye issues can range from corrective lenses, wearing sunglasses when outside to surgical procedures.
  • Endocrine Management: The most common management for endocrine issues are receiving growth hormone treatment for growth deficiency and controlling congenital hyperinsulinemia.
  • Neural Crest Tumor Management: Treatment for neural crest tumors involves surgery followed by chemotherapy, if needed.