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NR2F1

Management

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