Management

Developmental assessment including motor, adaptive, cognitive, and speech-language evaluation.
Search for brain MRI abnormalities, seizures, psychiatric symptoms,  changes in tone, movement disorders, and developmental progress at each clinic visit; clinical evaluation for growth and measurement of OFC, ophthalmology and audiology evaluations.

Although bilateral cataracts is not observed in the totality of patients perhaps due to the young age at the diagnosis, ongoing ophthalmologic monitoring is essential.

In addition, one patient’s manifested mild hearing abnormalities that should be investigated.