Reference:
5_M.ﾠPintaudi,
Abstract:
Rett syndrome (SR) is a rare disease that affects about 1/10000-15000 girls. Although epilepsy is present in about 80% of these patients, clinical studies investigating the characteristics of the crisis and the use and effectiveness of anti-epileptic drugs are scarce. The study aims to: Clinical study of epilepsy in the SR, the correlations with age, with the genotype with the clinical features; Define the true incidence of epilepsy; Evaluate the effectiveness of various anti-epileptic drugs and improve the treatment of patients with SR. Materials and methods The study is coordinated by the Neuropsychiatric Institute G. Gaslini Institute – University of Genoa and involves the participation of the following institutions: Istituto G. Gaslini Institute – University of Genoa, Istituto San Paolo (MI), Institute Fatebenefratelli (I), Civil Hospital of Brescia, AO Senese. Policlinico “Le Scotte”. Were examined 89 patients with SR, afferite to the various centers. And ‘have prepared a questionnaire for each patient where they are asked to reconstruct the history of epileptic subject: General clinical parameters, genotype, age of onset of the crisis, seizure type, EEG findings, medications used and any benefit. This questionnaire is proposed to the doctor in charge of the patient. In cases where it is not possible to compile the part of the physician, researcher at the University of Genoa take a copy of the medical record of the patient and in collaboration with the referring physician fill out the questionnaire. The data are collected and processed by the researcher at the University of Genoa.
PROJECT DETAILS
beginning: 2008.
end: 2010.
Country of research: Italy
Counry of funding source: Italy
Funding organization: AIRETT
Financing: PRIVATE FUNDERS – 50 000 €