Perisylvian Syndrome

Abstract

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? (AU)