• At the time of diagnosis: Skeletal survey, brain MRI and screen for other congenital anomalies especially for patients with truncating variants.
• Treatment of manifestations: Patients with PPP3CA-associated neurodevelopmental disorders manifest many different problems, thus long-term follow-up is often needed by several disciplines. Physiotherapy, speech therapy, and other interventions should be used according to the individual needs of the patients. A regular evaluation, treatment and follow-up by a pediatric neurologist and rehabilitation is advised.
• Diagnosis of type and frequency of seizures should be performed by patient’s history and EEG. Refractory seizures often lead to neurological deterioration and regression.