A consultation with a pediatric neurologist and/or a clinical geneticist is required to:

  • Assess delay of motor skills, speech and language development and evaluate intellectual disability.
  • Evaluate neurological issues, including epilepsy and ataxia.
  • Test behavioral problems, notably autism spectrum disorder; in such cases, a psychiatric evaluation is required.

Recommended specialized consultations and exams are:

  • A neurological evaluation, including EEG and brain MRI if seizures are present or suspected.
  • Ophthalmological examination to detect frequently associated eye/vision problems.

Intellectual disability should be managed by early and/or individualized educational intervention aimed at improving cognitive and communication abilities. Treatment of epilepsy should be tailored to the type of seizure and individualized to the needs of the affected person. Follow-up consultations with a clinical geneticist are recommended.