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  • 标题:El síndrome X frágil: identificación del fenotipo y propuestas educativas
  • 本地全文:下载
  • 作者:Begoña Medina Gómez
  • 期刊名称:Revista Española de Discapacidad
  • 电子版ISSN:2340-5104
  • 出版年度:2014
  • 卷号:2
  • 期号:2
  • 页码:45-62
  • DOI:10.5569/2340-5104.02.02.03
  • 出版社:Centro Español de Documentación sobre Discapacidad (CEDD)
  • 摘要:Researchers confirm that fragile X syndrome is the leading cause of hereditary intellectual disability, but it is still largely unknown by educational professionals, health professionals and social service workers. An early detection could avoid transmission of the genetic disorder and would enable the establishment of the most appropriate interventions for each person. Great progress has been made over the last years in the understanding of the neurodevelopmental disorder. In this article, an extensive review about the most relevant studies and contributions that have been made so far concerning its molecular, brain, cognitive and conceptual interactions, the tools to sift in order to detect possible affected people, and also some tips on interventions. Nevertheless there should be continued progress in order to improve the assessment and the assistance in each particular case.
  • 关键词:discapacidad intelectual; intervención educativa; alteración genética; gen FRM1; trastorno del neurodesarrollo
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