Efficacy of levetiracetam in the treatment of drug-resistant Rett syndrome

Specchio, Nicola; Balestri, Martina; Striano, Pasquale; Cilio, Maria Roberta; Nardello, Rosaria; Patanè, Santina; Margiotta, Maria Luisa; D’Orsi, Giuseppe; Striano, Salvatore; Russo, Silvia; Specchio, Luigi Maria; Cusmai, Raffaella; Fusco, Lucia; Vigevano, Federico

doi:10.1016/j.eplepsyres.2009.10.005

« Previous Next »Epilepsy Research
Volume 88, Issue 2 , Pages 112-117, February 2010

Efficacy of levetiracetam in the treatment of drug-resistant Rett syndrome

Nicola Specchio
- Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, P.zza S. Onofrio, 00165 Rome, Italy
- Corresponding author. Tel.: +39 0668592645; fax: +39 0668592463.
Martina Balestri
- Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, P.zza S. Onofrio, 00165 Rome, Italy
Pasquale Striano
- Muscular and Neurodegenerative Diseases Unit “G. Gaslini” Institute, Genova, Italy
Maria Roberta Cilio
- Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, P.zza S. Onofrio, 00165 Rome, Italy
Rosaria Nardello
- Child Neurology and Psychiatry, University of Palermo, Palermo, Italy
Santina Patanè
- Child Neurology and Psychiatry, ASL LE/2, Lecce, Italy
Maria Luisa Margiotta
- Child Remedial Service, ASL LE/1, Lecce, Italy
Giuseppe D’Orsi
- Epilepsy Center, Opera Don Uva, Bisceglie (BA), Italy
Salvatore Striano
- Muscular and Neurodegenerative Diseases Unit “G. Gaslini” Institute, Genova, Italy
Silvia Russo
- Medical Genetics, Italian Auxetic Institute, Cusano Milanino (MI), Italy
Luigi Maria Specchio
- Clinic of Nervous System Disease, University of Foggia, Foggia, Italy
Raffaella Cusmai
- Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, P.zza S. Onofrio, 00165 Rome, Italy
Lucia Fusco
- Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, P.zza S. Onofrio, 00165 Rome, Italy
Federico Vigevano
- Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, P.zza S. Onofrio, 00165 Rome, Italy

Received 12 May 2009; received in revised form 7 October 2009; accepted 12 October 2009.

Summary

Rett syndrome (RTT) is a progressive neurological disorder characterized by a wide spectrum of phenotypes. Epilepsy is reported to occur in 50–90% of patients with RTT; some develop medically refractory epilepsy. The aim of this study is to investigate the efficacy of levetiracetam (LEV) in drug-resistant patients with RTT.

This prospective, pragmatic, open-label study consisted of an 8-week baseline period and a 6-month evaluation period. Efficacy variable was the mean frequency of monthly seizures before, and after 3 and 6 months of treatment with LEV.

Eight female patients, aged 7.5–19 years (M12.8±5) entered the study. Mean age at epilepsy onset was 25.8±14.1 months. All patients showed MeCP2 mutation. Patients had been treated with a mean of 3.4 AEDs (2–7) before LEV. The mean LEV dose was 44.84±18.02mg/kg/day. The mean monthly seizure frequency for all types of seizures during the baseline period was 21.3±8.1 (range 10–35); after 3 months it was 3.3±4.1 (range 0–9) and after 6 months of LEV treatment it was 1.5±2 (range 0–4), p<0.0001. The mean follow-up period was 20.2±13 months. Mild sleepiness occurred in two patients, one reported intermittent agitation.

Levetiracetam appeared effective in our series of drug-resistant RTT patients. All reported a reduction in seizure frequency and consequently a better quality of life.

Keywords: Rett syndrome, Levetiracetam, Drug-resistance, EEG, Focal seizures, Myoclonic seizures