PRKAR1B

Management

Once diagnosed, the long-term treatment and follow up of the patients should be done by a pediatrician who will coordinate a multidisciplinary team directed to the symptoms the patient manifest. We recommend the following areas to be covered:

•    A brain MRI taken after 40 months of age to assess for abnormalities of white matter
•    A full assessment by a speech pathologist
•    A full assessment for physical and occupational therapy
•    Formal cognitive and behavioral testing by a licensed pediatric psychiatrist
•    Assessment by an endocrinologist and abdominal ultrasound in case of potential symptoms of adrenal disease.
•    An assessment by a pediatric ophthalmologist