Williams syndrome and syndrome of non-verbal learning disabilities: does genetics have the clue for pragmatic disturbances?

• Autores: Elena Garayzábal
• Localización: VIAL, Vigo international journal of applied linguistics, ISSN 1697-0381, Nº. 2, 2005, págs. 9-26
• Idioma: inglés
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• Resumen

  • Williams Syndrome (WS) is a genetic syndrome due to a deletion of the band 7q11.23 in chromosome 7. It can be described by deficits in cognitive areas such as visual-spatial integration and linguistic skills. This profile is also present in the Syndrome of Non-Verbal Learning Disabilities (SNVLD), that is, the Williams Phenotype Syndrome (WPS), which has not yet been described, but shares the same cognitive and phenotype characteristics of WS. These similarities can support the idea that the band 7q11.23 of the chromosome 7 has more to do with pragmatic disturbances and less with formal aspects. I claim that my data can help to give a functional identification of the genes involved in cognitive processes located in the chromosomical band 7q11.23, deleted in WS.