Management

There are currently no disease specific management guidelines for SETD2-NDD. Management is currently supportive and focused on treating the affected systems.

For individuals with LLS, the following evaluations can be considered and based off clinical findings:
•    Developmental or neuropsychiatric evaluation
•    Neurological evaluation
•    Evaluation of growth to assess for obesity and overgrowth
•    Cardiology evaluation
•    Ophthalmology evaluation
•    Endocrinology evaluation

For individuals with RAPAS, the following evaluations can be considered:
•    Neurologic evaluation to consider MRI and EEG
•    Gastroenterology evaluation for feeding/ growth
•    Pulmonology evaluation for respiratory difficulties
•    Audiology evaluation
•    Ophthalmology evaluation in infancy
•    Endocrinology evaluation to see hyponatremia in infancy
•    Cardiology evaluation for congenital heart defects
•    Orthopaedics evaluation for musculoskeletal abnormalities