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Perisylvian Syndrome

Abstract

Perisylvian Syndrome (PS) is used when patients present clinical manifestations due to lesions on perisylvian or opercular 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 finding of polymicrogyria to DLD for the first time in the literature; we showed that the extent of the polymicrogyric cortex 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 the 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 previous 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?; 15 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)

Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
SIMONE ROCHA DE VASCONCELLOS HAGE; MÁRCIA APARECIDA GRIVOL. Reference values of nonword repetition test for Brazilian Portuguese-speaking children. Journal of Applied Oral Science, v. 17, n. spe, p. -, 2009.

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