Congenital Central Hypoventilation Syndrome

Congenital Central Hypoventilation Syndrome

Dr. Kennedy
Congenital Central Hypoventilation Syndrome (CCHS) is a disorder of the central nervous system in which 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. It represents a de novo mutation of the phox2b gene in well over 90% of cases. Studies confirmed clinical observations that there is a wide range of affectedness in CCHS thus suggesting there may be other genes related to CCHS. Each child of a CCHS parent (i.e., 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. Testing for the presence of the mutation in a fetus can also be done. While most CCHS children breath adequately, though shallow, while awake, mechanical ventilation is required for sleep (naps and nighttime), illness or any other period of low blood oxygenation. O2 and CO2 monitoring during sleep is optimal. BAbout 15% 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.

A significant percentage of these children have other health problems, as follows:

  • 46% have eye disorders
  • 45% developmental delays
  • 43% difficulties with body temperature regulation
  • 42% have seizures
  • 41% recurrent pneumonia
  • 30% learning disabilities
  • 25% fainting episodes
  • 19% have heart problems
  • 18% report GI reflux
  • 16% suffer from Hirschsprungs Disease

(Reference Vanderlaan, et. al., Pediatric Pulmonology 37: 217-229, 2004.)

With medical supervision, appropriate home care, and family support these patients can lead fulfilling and productive, near-normal lives, and may also mean the difference between life and death. The oldest CCHS patients today are in their thirties. CCHS young adults are in college, in the workplace, and are raising their own families. The majority of CCHS families’ medical costs are covered by government and/or private insurance programs. With that support, 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 to good outcomes for the great majority of CCHS families.

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