Management

Patients are typically followed by a team of doctors who specialize in different areas to best help with their needs. A geneticist can help explain the patient’s test results and make recommendations for appropriate specialists to see. Most patients see a neurologist for management of complications such as seizures, low muscle tone, or difficulty walking. Some patients see a gastroenterologist for management of feeding difficulties such as reflux or constipation. Patients should have imaging of their heart and see a cardiologist if there are any abnormalities on heart imaging.

Other studies that might be ordered include a renal ultrasound to check for differences in the kidneys and an audiology evaluation to check for hearing problems. Labs to check on the thyroid and immune system might also be ordered because some issues in these systems have been noted in a small number of patients.

Parents of a patient with OTUD6B-associated syndrome are usually carriers for this condition, meaning that one of their two OTUD6B gene copies has one of the genetic variants present in the patient. When both parents are carriers for OTUD6B-associated syndrome, there is a 25% chance each time they have a child together that the child will have OTUD6B-associated syndrome. A prenatal genetic counselor can provide detailed counseling about this information and help explain genetic testing options that are available before and during pregnancy for families who wish to learn more about the chances for OTUD6B-associated syndrome to be passed down.