Underexposed features of CHARGE syndrome: immunological, adrenal, and scapular function

CHARGE syndrome is a rare and complex genetic condition. Children with this syndrome may have a combination of various congenital defects, developmental and behavioral problems. Abnormalities such as heart defects, blindness or deafness, receive a lot of attention. This is certainly important, but in this thesis we have focused on less obvious features: the immune system, the adrenal and shoulder function.

Our studies show that children with CHARGE syndrome may have a reduced immune reaction to infections because they have insufficient immune cells. They also have an insufficient response to vaccinations. The thymus is an important organ for the production of immune cells, but we could not confirm in what extent the thymus might play a role in our findings. We have demonstrated that abnormalities in the adrenal function rarely occur. We also showed that reduced shoulder function, due to abnormalities in the nerves innervating the muscles, could be the only visible sign of CHARGE syndrome.

The results of our research should be included in current guideline(s) to create more awareness among doctors so that patients can receive optimal care, also for underexposed features. For example, we advise to do specific blood tests and to consider revaccinations in patients who have recurrent infections. Standard testing for the adrenal function is not required which may give patients and their parents some relief.

The thesis ends with a message on how important it is that patients, doctors, researchers and policy makers work together to tackle underexposed issues in rare diseases.