CCHS, or Congenital Central Hypoventilation Syndrome, is a disorder of the central nervous system where, most dramatically, the automatic control of breathing is absent or impaired. A CCHS child’s respiratory response to low blood oxygen saturation (hypoxia) or to CO2 retention (hypercapnia) is typically sluggish during awake hours and absent, to varying
degrees, during sleep, serious illness, and/or stress.

In 2003 independent research efforts in France, the United States and Italy confirmed the key role of a de novo mutation of the phox2b gene in over 90% (in the US study) of CCHS cases. But the “size” of that mutation varies among CCHS patients, ranging from 20/25 to 20/33. (See the CCHS Literature pages for further reading.) These studies confirmed clinical observations that there is a wide range of affectedness in CCHS and suggested that there may be other candidate genes for explaining CCHS. These results mean, for example, that each child of a CCHS parent (i.e., of a person with the phox2b mutation) has a 50% chance of also having CCHS. Testing for the phox2b mutation (or other factors in CCHS) is now available. Similarly, testing for the presence of the mutation in a fetus can also be done. Go to our diagnosis link on our pages for further information on accessing these blood tests for your child or patient.

While most CCHS children breath adequately, though shallowly, while awake, observation of their respiratory status is required for optimal outcome, and, mechanical ventilation is required for sleep (naps and nighttime), illness or any other period of low blood oxygenation in nearly all CCHS cases. O2 and CO2 monitoring during sleep is optimal. Studies suggest that between 10 and 17% of CCHS children require 24-hour ventilatory support. These children benefit from phrenic nerve pacing during the day and conventional home-vent support for nighttime sleep.

About 16% of CCHS patients suffer from Hirschsprungs Disease and 18% report gastro-esophageal reflux. A range of ophthalmologic and cardiac issues are reported in about 46% and 19% of CCHS patients respectively. A study of 196 CCHS patients suggested that seizures (42%), recurrent pneumonia (41%), developmental delays (45%), learning disabilities (30%), fainting episodes (25%) and irregularities of body temperature control (43%) occur in significant numbers of CCHS patients, along with other medical issues. (See Vanderlaan, et. al., Pediatric Pulmonology 37: 217-229, 2004.)

Yet, while the health issues initially appear daunting, with appropriate home care, family support and careful medical supervision, these children can lead fulfilling and productive, near-normal lives. The study cited above found, for example, that over 60% of the children were making normal progress in school, while another group required some or significant special educational support. With advances in home health care technology, such as portable ventilators, oximeters and ETCO2 monitors, has come optimal health management and much-improved prognoses for the infants diagnosed with CCHS. (On other topics such as schooling, nursing support, annual testing and medical care, see this study. Other readings are given on the literature page on this site.) Reflecting the recency of the CCHS diagnosis, the oldest CCHS patients today are in their thirties. CCHS young adults are in college, in the workplace, and are having their own families.

Key to the CCHS patient’s longevity is informed medical supervision by medical professionals who also work to support the family in optimizing the home healthcare and school (or other) settings. At minimum, this requires nighttime nursing support in the home for the infant and young child, along with some respite support for the parents and caregivers. Meanwhile, the study cited above found that the majority of CCHS families’ medical costs were covered by government and/or private insurance programs. That support has meant that fewer than 1% of the affected children have been placed in institutional settings on a long term basis. Support for patients and their families has translated into good outcomes for the great majority of CCHS families.

Educating families and medical professionals about the nature and course of CCHS is the main purpose of the CCHS Family Network. We work to share research findings, family observations and “survival techniques,” and other news and information to all those affected by congenital central hypoventilation syndrome. One recent example of the kinds of issues we cover and educate patients and their physicians on concerns the use or abuse of alcohol and recreational drugs among a few CCHS young people. That the use of alcohol or illicit drugs can very easily become deadly for these patients with impaired respiratory drive is news that we could very quickly send out with warnings to our families and their caregivers. In 2008 we alerted all CCHS families to the association of various mutation levels with the risk of sudden death due to long cardiac pauses and urged all patients to routinely use Holter monitoring to watch for these intermittent pauses. If pauses of 3 seconds or more are observed in the CCHS patient, cardiac pacing is recommended by CCHS experts.

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