Management

There are no targeted gene therapies for RFX3variants. Management consists of addressing the associated neurobehavioral phenotype with evidence based therapeutic and educational interventions. This includes speech therapy, occupational therapy, and physical therapy for global developmental delay/intellectual disability. Additionally, behavioural therapy is essential, ideally in the form of Applied Behavioral Analysis (ABA) to address the behaviour symptoms. If ABA is unavailable, options such as Parent Management Training (PMT) can be helpful for parents to learn how to respond to challenging behavior. Individuals should be enrolled in special education through their local school system.

Medication management is second line but often necessary to address seizures if present, sleep, anxiety and/or behavior and might include anti-epileptics, melatonin for sleep cycle regulation, SSRIs for anxiety, alpha agonists or stimulants for hyperactive/inattentive behaviors, or atypical antipsychotics for extremely disruptive behaviour or psychotic symptoms.