CCHS Website
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Why might my child have neurological problems?
CCHS is a genetic abnormality present from early in foetal life that affects the development of the autonomic nervous system (ANS). The ANS controls automatic functions such as breathing, circulation, heart rhythm, activity of the gut, body temperature and sweating, and so on, and is closely related to brain activity.
The main abnormality in CCHS involves a reduced ability to respond to changes in blood levels of oxygen and carbon dioxide by changing ventilation. Blood levels of oxygen may therefore fall and levels of carbon dioxide may rise, with harmful effects on the brain and heart. Some affected individuals may show evidence of other problems affecting the brain and development that are not necessary related to acute hypoxemic episodes and may be a direct result of the primary neurological problem associated with CCHS.

What are Seizures?
Seizures are symptoms of a brain problem. They happen because of sudden, abnormal excessive or synchronous neuronal activity in the brain.

How do they look like?
Seizures can cause involuntary changes in body movement or function, sensation, awareness, or behavior. They are often associated with a sudden and involuntary contraction of a group of muscles and loss of consciousness.

Seizures can be provoked by acute hypoxemic episodes or can in some affected individuals occur unprovoked.
Optimal oxygenation and ventilation in CCHS patients reduces the chance for hypoxemic episodes but nevertheless in individuals with more severe forms of CCHS seizures may progress to persistent seizures disorder requiring anticonvulsive prophylaxis.

Neurocognitive development
Can my child achieve normal intelectual functioning ?

Most of children with CCHS attend regular classes in regular schools. However some affected individuals have significant learning disabilities requiring special education classes.
Normal intellectual function appears to be associated with an early diagnosis and optimal ventilatory support.
Regular and comprehensive intelectual testing can identify the problem and enable aggressive educational intervention that together with optimal ventilatory management can assure maximalization of child's neurocognitive potential with a good quality of life.

What about his/her motor Motor developmetdevelopmental milestones ?
It is a great chance that your child will archieve all motor developmental milestones in time but many CCHS infants present with lower muscular tone and/or major motor developmental delay needing inclusion of different neurophysiotheapeutical programs.

CCHS patients frequently exhibit vision abnormalities reflecting neural control of eye function. Most have narrow pupils that react poorly to light. They can also have strabismus of various type and therefore problems with convergence on near looking
Some CCHS individuals can present hearing problems. These may be related to deficits in periferal or central neural hearing pathways. It is important to diagnose hearing deficits early in the course of the disease to facilitate proper speech development in CCHS children that might be influenced by itself due to the need for the tracheostomy


update: 24/04/2011

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