Management

There are currently no specific treatment guidelines for RPH3A-related neurodevelopmental disorder. Management is supportive and symptomatic, requiring a multidisciplinary approach.
•    Neurological: Management of epilepsy with standard anti-seizure medications is a primary goal, although seizures can be drug-resistant. Regular neurological follow-up is recommended.
•    Developmental: Early intervention with physical, occupational, and speech therapy is recommended to address developmental delay, ID, and hypotonia.
•    Behavioral: Neuropsychiatric evaluation and support may be beneficial for individuals with features of ASD and hyperactivity.
•    Surveillance: Regular monitoring of developmental milestones, seizure activity, and growth parameters is recommended.