Management

There does not exist an international consensus for the management and surveillance of individuals carrying MED13 mutations.

In general, the management should be multidisciplinary. Should be recommended after the diagnosis: 1) a developmental assessment; 2) a neuropsychiatric evaluation; 3) Neurologic evaluation with EEG if evidence of seizures; 4) Ophthalmologic evaluation for Duane anomay; 5) cardiologist consultation with EKG & echocardiogram if needed; 5) a genetic evaluation with dysmorphological assessment. The treatments and the surveillance should be performed based on the individuals’ problems and usually with standard procedures.