Ask the expert

Autonomic nervous system

      
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange syndrome. 

The autonomic nervous system is responsible for controlling bodily functions without a person needing to think about them, for example, breathing, heartbeat and digestion. Most individuals with CdLS have mild abnormalities in their autonomic nervous system and approximately 25% of individuals with CdLS will have marked abnormalities. Dystonia (uncontrolled muscle movements) and catatonia (apparent unresponsiveness and inability to move) are rare in CdLS.

Seizures are common in the CdLS spectrum. A seizure is caused by an abnormal discharge of electrical activity in the brain.

There is some evidence that individuals with CdLS have sensory deficits and temperature insensibility. This means that the part of the nervous system associated with pain and sensation might not be sending the right signals to the brain.


Recommendation(s)

Autonomic nervous system

R47
Seizures in individuals with CdLS should be treated using the general management schemes.
R48
An MRI of the brain should be considered only if the individual with CdLS shows neurological signs other than microcephaly (smaller than normal head).


                                                                                                                                                                                                                                                                                                                                                                                                                                           

Legal Disclaimer

Please take note that the Ask the Expert service is comprised of volunteer professionals in various areas of focus. Answers are not considered a medical, behavioral, or educational consultation. Ask the Expert is not a substitute for the care and attention your child’s personal physician, psychologist, educational consultant, or social worker can deliver.

Do you have a question you would like to ask?

Ask a Question
Do You need help urgently? Contact the Contact Us!

Deepen your knowledge of Cornelia de Lange syndrome

We organize our answers about Cornelia de Lange syndrome in topics. You can browse our topics below. Below each topic you might find more detailed topics with answers that might be of interest to you.