Congenital Central Hypoventilation Syndrome
Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of the autonomic nervous system, the part of the nervous system which is responsible for the control of involuntary muscles. In other words, anything which is not consciously directed such as heart beat, renal function, bowel function and breathing. Breathing is predominantly affected by CCHS which causes hypoventilation (slow and shallow breathing).
During breathing our brain detects oxygen (O2) and carbon dioxide (CO2) levels in our blood and sends messages to our respiratory muscles to increase or decrease rate and depth of breathing accordingly to maintain O2 and CO2 levels within the normal parameters. Patients with CCHS do not respond to hypoxia (low O2 levels) and hypercapnia (high CO2 levels) as individuals without the condition would do and therefore respiratory drive (the function to respond without conscious control to changing O2 and CO2 levels) is sluggish or absent to varying degrees particularly during sleep. The exact cause of CCHS is not fully understood although a particular gene (PHOX2B) defect has been associated with the condition in 90% of cases . PHOX2B is responsible in the early embryo for providing instructions to make a protein which promotes the formation of nerve cells and differentiation of specific neuron function .
Symptoms of the condition may be present at birth in severe cases where babies do not breathe and need assisted ventilation in the delivery room. With less severe cases infants may present solely because of an observation by parents or health professionals that the infant appears to often stop breathing. So, symptoms may range from poor to complete lack of spontaneous breathing. Diagnosis can be made when under-breathing, hypoxia and hypercapnia during sleep cannot be associated with muscle, nerve, cardiac or lung disease. Severities of CCHS may be defined as; Mild CCHS: Hypopnoea (abnormal decrease in the rate and depth of breathing) in quiet sleep (QS); moderate CCHS: hypopnoea in REM and in QS; severe CCHS: hypopnoea when awake, in REM and in QS .
Other abnormalities associated with CCHS include eye abnormalities, including a decreased response of the pupils to light2,3; decreased perception of pain2; poor body temperature regulation and occasional episodes of profuse sweating2,3; and lack of heart rate and blood pressure variability3.
No medication has been shown to be effective in the treatment of CCHS so mechanical ventilation, usually via a tracheostomy, is commenced to ensure adequate ventilation. Some individuals may be able to self ventilate during wakefulness but may require mechanical ventilation overnight to take over the control of breathing. Other more severely affected individuals may require ventilation 24hrs a day. For those individuals for which self control of breathing is possible it is thought that a combination of voluntary respiratory control (conscious control of breathing), mechanoreceptors (nervous response to physical activity) and peripheral chemoreceptor (cells in the carotid artery and aorta which respond to changes in O2 and CO2 levels) function may contribute towards the ability to self-ventilate when awake.
Whilst the condition and its treatment initially appear daunting, with the appropriate level of support, individuals and their families may live a fulfilling and productive life at home. With advances in home health care technology, such as portable ventilators and monitoring equipment, has come optimal health management and a much improved prognosis for children diagnosed with the condition. Children may attend school with their peers and make good progress with the appropriate balance between educational support and health care supervision. The key to longevity is through careful and thorough assessment of individual need and the implementation of a tailored ‘home care package’ provided to support and facilitate a fulfilling life at home and in other community settings.
The team of nurses and health care support workers at InVent Health work with multidisciplinary teams, patients and their families to help plan and implement tailored home care packages to enable individuals and families to live fulfilling lives at home.
Care packages may include night time support to monitor and carry out care intervention as necessary, day time support to enable individuals to attend school and other community settings or simply a day or two respite each week to allow parents a break from caring for their child. Each care package is individually assessed based on patient and family needs and wishes and planned and implemented accordingly in conjunction with the multidisciplinary team.
Whatever the size of a care package, caring and competent staff are essential to its success and all of our staff are thoroughly trained in all of the necessary aspects of care. Training packages will be tailored according to individual need and for CCHS patients may include management and care of the artificial airway (tracheostomy), mechanical ventilation, nebuliser therapy, end tidal CO2 monitoring, O2 saturation monitoring and emergency intervention. All of our staff undergo thorough initial training and are continuously updated and assessed on both theoretical and practical components of care and nursing interventions. A good knowledge of the underlying condition is essential to underpin practical intervention and to ensure competent and safe care provision.
Psychological effects of both the condition and the impact of allowing a care team into the home environment are also vital considerations when planning and implementing a package of care. Promoting privacy, dignity, optimal development and independence are key to the work of our teams.
Support from Invent Health
Invent Health provide support for patients with Congenital Central Hypoventilation Syndrome (CCHS) who wish to live at home. Care needs are met whilst aiming to promote independence.
We offer support and care packages including long term ventilation for people who have Congenital Central Hypoventilation Syndrome.
We have highly trained staff with the use of specialised equipment including ventilators ensuring the highest quality of care and service.
For further information please call us on 01698 352 734
Patient welfare
Our primary concern is patient welfare. Because of our expertise we are employed to provide care to individuals on behalf of various organisations such as Primary Care Trusts, Health Boards, Social Services, Health Services Community Health Partnerships and Education Authorities.
