About this Talk
In this talk, Aglaia Vignoli discusses epilepsy as one of the major issues for clinicians who follow girls with Rett syndrome and for their families. The prevalence of epilepsy in people with ID is 18.7% (vs. 1.1% in the general population), but the differential diagnosis of paroxysmal events may particularly challenging in children and subjects with ID, and this is particularly true for girls with Rett Syndrome.
The prevalence of epilepsy in patients with Rett is around 70%, with 30% of patients being drug resistant. Management of seizures can be challenging in RTT.
The most frequently prescribed Anti Seizure Medications (ASMs) are carbamazepine, valproic acid and lamotrigine, according to local prescription habits. Newer ASMs such as topiramate, levetiracetam are commonly used in drug refractory patients. ASMs can work differently according to age dependent factors.
In proven refractory epilepsies, other therapeutic options should be taken into account. First of all, newer drugs can be employed, but age related restrictions should be considered, due to current law dispositions. Among new ASMs, the use of cannabidiol and its derivates has recently increased attention, although evidence of the use of this drug in RTT is still limited.
Also non-pharmacological treatments, such as ketogenic diet, and vagal nerve stimulation can be prescribed in drug-resistant patients.
Ketogenic diet is a high-fat, low-carbohydrate, adequate protein diet that can be prescribed in patients with drug resistant seizures. Ketogenic diet is compliance demanding and requires high degree of medical and dietetic monitoring because its side effects and restrictiveness.
Vagal Nerve Stimulation (VNS) requires surgical implantation of electrodes around the cervical vagus nerve connected to a stimulating device implanted under the anterior chest wall. VNS seems safe and effective in RTT patients, even improving quality of life.