Learn More
Three experiments investigated face processing in children with Williams syndrome (WS). In Experiment 1, the ability to discriminate different aspects of faces was compared between WS subjects and a group of children individually matched for chronological age (CA-matches) and another group matched for mental age (MA-matches). In Experiments 2 and 3, the(More)
We compared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including chromosome 15q11-13 deletions (class I), uniparental disomy (class II), methylation imprinting abnormalities (class III), and mutation in the UBE3A gene (class IV). Twenty patients were prospectively selected based on clinical cytogenetic and molecular diagnosis of AS. All(More)
Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15q11-13. This region encompasses three GABAA receptor subunit genes (beta3, alpha5, and gamma3). The characteristic phenotype of AS is severe mental retardation, ataxic gait, tremulousness, and jerky movements. We studied the movement disorder in 11 AS patients, aged(More)
The authors studied 10 patients (mean age 15 years 6 months) with localized developmental gyral disorder detected by MRI. There were two groups of major malformations. Seven patients (group 1) had unilateral 'macrogyric-like' insulo-opercular changes, one of whom died early in life and had extensive microgyria. The six others had mental retardation and(More)
The authors studied 10 patients aged between six and 23 years (mean age 14 years 5 months) with magnetic resonance imaging, which detected bilateral 'macrogyric-like' maldevelopment of the insulo-opercular regions. The data confirm that biopercular gyral anomaly, associated with mental retardation, pseudobulbar palsy (cortical or central) and epilepsy,(More)
A 10-year review of a neuropediatric department experience with childhood ischemic cerebrovascular disease identified 35 patients with arterial ischemic stroke. The ability to diagnose stroke in children has improved with the development of imaging techniques in the past few years. Children have a wide array of risk factors for ischemic strokes, since some(More)
We report on the genotype-phenotype correlation in 7 patients with classical lissencephaly carrying a heterozygous subtle mutation in the LIS1 gene. Six patients, showed a mutation predicted to encode for a truncated protein, and one mutation altered a splicing site, resulting in skipping of exon 4. Western blot analysis performed on the lymphoblastoid cell(More)
The Battery for Rapid Evaluation of Cognitive Functions (Batterie Rapide d'Evaluation des Fonctions Cognitives: BREV) was designed to provide health professionals with a quick clinical tool for screening acquired and developmental cognitive deficits in children aged 4 to 8 years. The BREV explores oral language in both its expressive and receptive forms,(More)
The Battery for Rapid Evaluation of Cognitive Functions (Batterie Rapide d'Evaluation des Fonctions Cognitives: BREV) is a quick test to screen children with higher-functioning disorders and to define the patterns of their disorders. After standardization tests in 500 normally developing children aged 4 to 8 years, validation consisted of comparative(More)
Angelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11-q13. There are four classes of AS according to molecular or cytogenetic status: maternal microdeletion of 15q11-q13 (approximately 70% of AS patients); uniparental disomy (UPD); defects in a putative imprinting centre (IM); the fourth(More)