Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/194195
Type: Artigo de periódico
Title: Fragile X Syndrome. Clinical, Electroencephalographic And Neuroimaging Characteristics.
Author: Guerreiro, M M
Camargo, E E
Kato, M
Marques-de-Faria, A P
Ciasca, S M
Guerreiro, C A
Netto, J R
Moura-Ribeiro, M V
Abstract: We studied 11 patients (9 males) with cytogenetic diagnosis of fragile X syndrome (FXS) with the purpose of investigating the neural circuitry involved in this condition. The ages ranged from 8 to 19. All the individuals presented large ears, elongated faces and autistic features. Ten patients had severe mental retardation. Attention disorder was found in 10 individuals. Electroencephalographic recordings were abnormal in 6 of 10 patients examined, showing focal epileptiform discharges predominantly in frontal and parietal areas. All patients underwent magnetic resonance imaging studies which were abnormal in 8 of them. The most important abnormalities were reduction of the cerebellar vermis and enlargement of the IV ventricle. Single photon emission computerized tomography (SPECT) was performed in 7 patients and was abnormal in all of them, the most frequent finding being a hypoperfusion of the inferior of the frontal lobes. Based on the clinical picture, neuropsychological findings and functional and structural imaging studies we suggest that FXS presents with a dysfunction involving a large area of the central nervous system: cerebellum-basal frontal regions-parietal lobes. The literature points to a disturbance involving the same neural circuitry in patients with autism.
Subject: Adolescent
Adult
Brain
Child
Electroencephalography
Female
Fragile X Syndrome
Humans
Magnetic Resonance Imaging
Male
Neurologic Examination
Neuropsychological Tests
Tomography, Emission-computed, Single-photon
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/9686115
Date Issue: 1998
Appears in Collections:Unicamp - Artigos e Outros Documentos

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