Diagnosis typically involves a multi-disciplinary approach:
Medical history: A comprehensive medical history is taken, including prenatal and birth history, previous illnesses, and family history. Physical examination: A thorough physical exam to rule out any obvious physical causes. Developmental screening: Standardized developmental screening tools may be used to assess the extent of regression. Neurological assessment: Imaging studies like MRI or CT scans may be recommended to evaluate brain structure and function. Laboratory tests: Blood tests and metabolic screening can help identify underlying medical conditions.