A consultation with a pediatric neurologist and/or a clinical geneticist is required to:
• evaluate intellectual disability
• assess delays of speech and language development
• assess motor skills
Recommended specialized consultations and exams are:
• a neurologic evaluation, including EEG and brain MRI, if seizures are present
• ophthalmologic examination to detect eye/vision impairment, especially cataract
• dermatological assessment
Follow-up consultations with a clinical geneticist and/or genetic counselor are recommended.
LSS