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Uncommon genetic syndromes and narrative production - Case Studies with William...
Garayzábal Heinze, Elena; Capo, Magdalena; Moruno Lopéz, Esther; Gonçalves, Óscar F.; Férnandez, Montserrat; Lens, María; Sampaio, AdrianaThis study compares narrative production among three syndromes with genetic microdeletions: Williams syndrome (WS), Smith-Magenis syndrome (SMS), and Prader-Willi syndrome (PWS), characterized by intellectual disabilities and relatively spared language abilities. Our objective is to study the quality of narrative production in the context of a common intellectual disability. To elicit a narrative production, th...
How executive functions are related to intelligence in Williams syndrome
Osório, Ana Alexandra Caldas; Cruz, Raquel; Sampaio, Adriana; Garayzábal Heinze, Elena; Martínez-Regueiro, Rocío; Gonçalves, Óscar F.; Carracedo, ÁngelWilliams syndrome is characterized by impairments in executive functions (EFs). However, it remains unknown how distinct types of EFs relate to intelligence in this syndrome. The present study analyzed performance on working memory, inhibiting and shifting, and its links to IQ in a sample of 17 individuals with WS, and compared them with a group of 17 typically developing individuals matched on chronological ag...
Cognitive functioning in children and adults with Smith-Magenis syndrome
Osório, Ana Alexandra Caldas; Cruz, Raquel; Sampaio, Adriana; Garayzábal Heinze, Elena; Carracedo, Ángel; Férnandez-Prieto, MontserratSmith-Magenis Syndrome (SMS) is a genetic neurodevelopmental disorder caused by a microdeletion on chromosome 17p11.2. This syndrome is characterized by a distinctive profile of physical, medical and neuropsychological characteristics. The latter include general mental disability, with the majority of individuals falling within the mild to moderate range. This study reports a detailed cognitive assessment of ch...
MRI amygdala volume in Williams syndrome
Capitão, Liliana; Sampaio, Adriana; Sampaio, Cassandra; Vasconcelos, Cristiana; Férnandez, Montse; Garayzábal Heinze, Elena; Shenton, Martha E.One of the most intriguing characteristics of Williams Syndrome individuals is their hypersociability. The amygdala has been consistently implicated in the etiology of this social profile, particularly given its role in emotional and social behavior. This study examined amygdala volume and symmetry in WS individuals and in age and sex matched controls. Magnetic resonance imaging scans were obtained on a GE 1.5-...
Funcionamiento cognitivo general y habilidades psicolingüísticas en niños con s...
Garayzábal Heinze, Elena; Villaverde, Maria; Moruno Lopéz, Esther; Conde, Tatiana; Moura, Luis Felipe; Fernández, Montserrat; Sampaio, AdrianaGeneral cognitive functioning and psycholinguistic abilities in children with Smith-Magenis Syndrome. This study is a neuropsycholinguistic research of a rare genetic syndrome with microdeletion that co-occurs with intellectual disabilities and relatively good language abilities, the Smith-Magenis Syndrome (SMS). Nevertheless, there are no cognitive and psycholinguistic profile analyses performed with Spanish p...
Valoración interlingüística de la producción verbal a partir de una tarea narra...
Garayzábal Heinze, Elena; Prieto, Montse F.; Sampaio, Adriana; Gonçalves, Óscar F.El síndrome de Williams es un trastorno causado por una delección en el cromosoma 7, con un perfil cognitivo caracterizado por un retraso mental, dificultad grave en tareas visoespaciales, que contrasta con un desarrollo relativo de la capacidad lingüística y producción narrativa. En este estudio se analizó la ejecución verbal narrativa de dos grupos de sujetos (N= 3) de habla portuguesa y española diagnosticad...
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