J S B Guedalia

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PURPOSE Because of concern for drug-induced cognitive dysfunction during clinical trials using substrate reduction therapy (miglustat) in type 1 Gaucher disease and because it has been suggested that some patients with type 1 Gaucher disease may develop neurocognitive impairment as part of the natural history, two different batteries of neuropsychological(More)
The Klüver-Bucy syndrome is characterized by psychic blindness or visual agnosia, blunted affect, hypermetamorphosis, hyperorality, bulimia, and sexual behavioral alterations. To date, there have been fewer than 10 reported cases of Klüver-Bucy syndrome in children, most of them irreversible. We describe here a reversible case of the complete Klüver-Bucy(More)
The purpose of this pilot study was to evaluate developmental neuropsychological profiles of 4- to 5-year-old children born after Preimplantation Genetic Diagnosis (PGD). Twenty-seven participants received a neurological examination and a battery of neuropsychological assessments including Wechsler Preschool & Primary Scale of Intelligence - Third Edition(More)
Canavan disease (CD) is a progressive neurodegenerative disease that occurs predominantly but not exclusively in Ashkenazi Jews. It is characterized by a normal birth, rapidly followed by signs of lack of interest, hypotonia, and megalencephaly, resulting in early death. Genetic studies suggest that among Ashkenazi Jews the carrier frequency is between 1/35(More)
Standardized neuropsychological test batteries demonstrate their greatest reliability and validity in patients with focal, well-defined neurologic disease. In these patients, the test profiles typically highlight focal areas of strengths and weaknesses in the brain. However, the clinical utility of standard test batteries and their reliance on scaled score(More)
BACKGROUND AND PURPOSE Cytomegalovirus is the leading intrauterine infection. Fetal MR imaging is an accepted tool for fetal brain evaluation, yet it still lacks the ability to accurately predict the extent of the neurodevelopmental impairment, especially in fetal MR imaging scans with unremarkable findings. Our hypothesis was that intrauterine(More)
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