[Clinical course of epileptic seizures in Rett's syndrome]

Seventeen girls diagnosed as Rett syndrome (RS) patients suffer or have suffered epileptic fits; we have analyzed the evolution of these seizures. The RS diagnosis is based on criteria established by the Rett Syndrome Diagnostic Criteria Working Group in 1988.

All girls have had clinical, biochemical, electroneurophysiological neuroimaging and cytogenetic studies done on them. Periodic EEG were carried out while the girls were awake; all had night-time EEGs done. The females are aged between 7 y 5 m, and 22 y 7 m (medium 14 years, 8 months). The age at first seizure was between 18 m and 7 y 8 m (median 4 years 5 months).

The clinic semiology is in decreasing order: tonic, generalized clonic, partial, absence and myoclonic seizures; eight patients have had more than one type of seizures. The frequency is variable: one or more continuous seizures in 6 cases, sporadic seizures in 3 cases, series of seizures in 4 cases, and subnitrant seizures in 4 cases. The evolution is variable: 6 cases have presented only the first fit, and 11 cases recurrent seizures which in 5 have ceased between 8 and 9 years, and 1 case at 13 years.

The study shows that the epileptic seizures in RS present three evolution profiles: 1. One or more non recurrent seizures (35.3%); 2. Recurrent seizures until 8-9 years (35.3%); 3. Recurrent seizures in subnitrant form which continued after puberty (29.4%).