Management

•    If not already implemented then initiate physical, occupational, speech therapies as well as feeding therapies if needed.
•    Consultation with a specialist in physical medicine and rehabilitation will help fine tune the therapies as well as evaluating for skeletal abnormalities sometimes associated with the diagnosis.
•    Establish care with a neurologist specialized in evaluating and treating seizures (epileptologist) at least for an initial evaluation. The type of the variant in PPP3CA will determine the need for ongoing evaluation if there is evidence of seizures.
•    Genetic services (clinical geneticist, genetic counselor) will help coordinate the referrals with your primary care and will discuss with you the neurodevelopmental and medical implications of the specific variant found in PPP3CA and as well as provide reproductive counseling.