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 cardiac and abdominal (renal) ultrasound;
• a neurologic evaluation, including EEG and brain MRI, if seizures are present or suspected;
• hearing and ophthalmological examination.
Intellectual disability should be managed by early and/or individualized educational intervention aiming at improving cognitive and communication abilities.
Cardiac, skeletal, renal, and genital abnormalities require appropriate routine treatment.
Follow-up consultations with a clinical geneticist and/or genetic counselor are recommended.
PSMC3