Clinical Exams/Tests:
- Care coordinated by key clinician (hospital or community paediatrician or GP)
- Full, dilated eye examination from an ophthalmologist every two years, with attention for optic nerve abnormalities and cerebral visual impairment
- Full hearing evaluation every two years
- Developmental assessment including gross and fine motor skills, speech and language evaluation, and support if necessary (physical therapy, speech therapy, occupational therapy, educational support)
- Comprehensive psychological evaluation for autism
- Consultation with a clinical geneticist and/or genetic counselor
- Neurologic evaluation including EEG if seizures are suspected