Neurological problems are defined as problems of the brain (central) and autonomic nervous systems. PHOX2B gene regulates the development of the autonomic nervous system (ANS). The ANS controls automatic functions such as breathing, circulation, heart rhythm, blood pressure, activity of the gut, body temperature and sweating, and so on, and is closely related to brain activity.
When PHOX2B is mutated the central and autonomic nervous systems are impaired.
The neurons in our brain are cells that become charged with electricity, and transmit signals that control all of our bodies’ functions and activities. The brain is constantly monitoring the body’s internal environment and keeping it at a steady state of functioning. 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 behavior. They are often associated with a sudden and involuntary contraction of muscles and loss of consciousness. Seizures can be caused by hypoxemic episodes and high or low blood sugars. But in some affected individuals they can occur unprovoked.
Each CCHS patient is unique. In general, some CCHS children experience some level of learning difficulty. Many children attend mainstream classrooms with minimal support, however some may have special and complex educational needs and therefore require more advanced learning assistance.
Lots of children with CCHS 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 physical and occupational management. Speech may also be delayed and working with a speech therapist may minimize speech deficits. Swallowing may also be problematic in some CCHS patients.
Early detection and management of CCHS with adequate ventilation and appropriate therapies have helped CCHS patients live fulfilling lives. Proper management has allowed CCHS patients to seek higher education, enter the work force and have families of their own.