Management

There are no targeted gene therapies for RFX3variants. Management consists of addressing the associated developmental delays with therapies and education. This includes speech therapy, occupational therapy, and physical therapy. Additionally, behavioural therapy can be extremely helpful, ideally in the form of Applied Behavioral Analysis (ABA). If ABA is unavailable, options such as Parent Management Training (PMT) can be helpful for parents to learn how to respond to challenging behavior.

Medication management is second line but often necessary to address seizures (if present), sleep, anxiety and/or behaviour. There are no other RFX3-specific guidelines for medication management at this time and this would be a case by case discussion with the individual’s primary care doctor, neurologist, or psychiatrist.