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Perisylvian Syndrome

Grant number: 06/00027-2
Support type:Scholarships in Brazil - Technical Training Program - Technical Training
Effective date (Start): April 01, 2006
Effective date (End): March 31, 2008
Field of knowledge:Health Sciences - Speech Therapy
Principal Investigator:Vera Lúcia Garcia
Grantee:Graciela Barbosa Fernandes
Home Institution: Faculdade de Odontologia de Bauru (FOB). Universidade de São Paulo (USP). Bauru , SP, Brazil
Associated research grant:03/03247-5 - Perisylvian Syndrome, AP.TEM

Abstract

Perisylvian Syndrome (Fapesp Process 2003/03247-5) Perisylvian Syndrome (PS) is used when patients present clinical manifestations due to lesions on perisylvian or orpecular region. Clinically, symptoms may vary from developmental language disturbance (DLD) to refractory epilepsy. The most frequent lesion is polymicrogyria. In previous studies, we have reported 12 families with PS and we showed that the syndrome is genetically heterogeneous: we correlated the anatomic findings of polymicrogyria to DLD for the first time in literature: we showed that the extend of the polymicrogyric may vary, leading to different degrees of clinical severity; and, we found that PS may be genetically determined, may have environmental influence or both. We intend to continue our investigation on PS in order to answer many questions. Our objectives are:- to perform neurophysiologic investigation in patients with PS and define EEG characteristics of the syndrome; - to identify new loci using linkage studies; - to study candidate genes; - to correlate the loci or mutations with clinical and neuroimaging findings; - to confirm neuroimaging findings; - to assess the function of the polymicrogyric cortex with functional MRI; - to perform psycholinguistic and audiologic assessments in order to identify the impairment; - to answer other questions:Is the polymicrogyric cortex functional? Is there any difference between polymicrogyria due to genetic determination or environmental influence? Do patients with different language impairments show involvement of different functional areas? Do different structural lesions cause different EEG findings?