A consultation with a pediatric neurologist and/or a clinical geneticist is required to:
evaluate intellectual disability, assess delays of speech and language development, and motor skills; test behavioral problems, and notably autism spectrum disorder; in such case, a psychiatric evaluation is required.

Recommended specialized consultations and exams are:

  • a neurologic evaluation, including EEG and brain MRI, if seizures are present or suspected;
  • ophthalmologic examination to detect frequently associated eye/vision impairment.

Intellectual disability should be managed by early and/or individualized educational intervention aiming at improving cognitive and communication abilities.

Follow-up consultations with a clinical geneticist and/or genetic counselor are recommended.