Individuals diagnosed with this syndrome should be referred for a full developmental and behavioral evaluation with institution of early intervention as required. Many patients show reduced verbal abilities and require speech therapy. Individuals who are non-verbal may use other means of communication such as picture boards. A physical examination including assessment for scoliosis, palatal abnormalities and pigmentary skin lesions should be undertaken. A complete neurological examination particularly focusing on tone and gait should be performed, and parents should be counselled for early recognition of seizures with a low threshold for EEG. Growth and feeding should be closely monitored. An ophthalmology assessment and renal ultrasound should be performed on all individuals. Individuals should be monitored for recurrent infections. Although the underlying basis for this has not been determined, a referral to an immunologist would be recommended for individuals who experience recurrent, severe or unusual infections.
ANKRD17