CCHS Website

CHS, Development and the Brain

Why might my child have neurological problems?
CHS 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.
Hypoventilation, or 'overbreathing' in CHS means that the levels of oxygen and carbon dioxide in the blood aren't properly regulated. The wrong amounts of oxygen and carbon dioxide in the blood can be harmful to the heart and brain, especially in babies developing in the womb.
Having too little oxygen in the blood is sometimes called 'hypoxemia'.
Some affected individuals also may experience seizures, which aren't related to hypoxemic episodes but can affect the brain and development.

What are seizures?
The neurons in our brain are cells that become charged with electricity, and transmit signals that control all of our bodies' functions and
activities. Seizures happen because of sudden or abnormal levels of neuronal activity in the brain.
They can cause involuntary changes in body movement or function, sensation, awareness, and/or behaviour. They are often associated with a sudden and involuntary contraction of muscles and loss of consciousness.
Seizures can be caused by hypoxemic episodes, but in some affected individuals they can occur unprovoked.

Will my child develop normally?
Children with CHS generally experience some level of learning difficulty. Most children attend mainstream schools, however some may have special educational needs and therefore require additional support.
An early diagnosis and carefully planned management, including identifying the right sort of ventilation for each individual patient, have been shown to have beneficial effects on a child's neurocognitive development.
Lots of children with CHS reach developmental milestones (for example: sitting up, starting to walk, jumping, using scissors) at the expected age. However some children may have low muscle tone and/or a delay in developing motor skills, and so would benefit from neurophysiotherapeutical management.

Vision
Eye function can be impaired in CHS. Most affected individuals have narrow pupils, that react poorly to light. Some children have strabismus, which is when their two eyes aren't lined up together, and can cause them to be cross-eyed.

Hearing
Some individuals with CHS present with hearing problems. It is important to diagnose these as early as possible, so that any disruption to speech development is minimised.

Swallowing
Many young children with CHS have swallowing difficulties. They may need a gastrostomy tube in their stomach, which can usually be removed at an older age.