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.