Management

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.