ADNP

Management

The following evaluations are recommended:

  • Comprehensive developmental assessment including gross and fine motor skills, speech and language evaluation, testing for autism spectrum disorder and intellectual disability.
  • Cardiac ultrasound, ophthalmologic examination and vision assessment.
  • Neurologic evaluation including EEG if seizures are suspected, and brain MRI to detect brain abnormalities.
  • Psychiatric evaluation in case of behavioral problems.
  • Consultation with a clinical geneticist and/or genetic counselor.