Management includes general supportive care and control of seizures by antiepileptics. Hearing evaluation and baseline echocardiography will be required. Psychological and educational support, physical therapy, family and vocational counseling will be useful.
Medical follow-up should include:
• Developmental and nutritional support.
• Clinical examination, echocardiography and cardiology referral if needed.
• Assess history for signs of seizures. EEG and neurology consult if needed.
• Assess for musculoskeletal signs like contractures, kyphosis or scoliosis. Orthopedic consult if needed.
SNX14