Caracterización: fenotípica de varones adultos con diagnóstico de síndrome X frágil. (Spanish)

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
  • Additional Information
    • Alternate Title:
      Phenotypic characterization of adult men diagnosed with fragile X syndrome. (English)
    • Subject Terms:
    • Abstract:
      Fragile X syndrome (FXS) is the first known cause of hereditary intellectual disability. Although one of the most common alterations, it is not always well known by health professionals, educators and society in general. This lack of knowledge means that a significant percentage of those affected are not diagnosed. Major differences among autonomous communities exist; in some of them, the syndrome is under diagnosed, due to non-detection, lack of genetic counselling or adequate educational intervention. After reviewing the general characteristics of FXS, we hereby present the study conducted in the province of Burgos, where data was gathered from 273 males with intellectual disability. 57 of them were genetically studied, resulting in the detection of 13 new cases of FXS. The data collection sheet (HRD-1) was the basis for selecting the participants to be studied; this, after undergoing the necessary modifications, resulted in HRD-2. We believe that this sheet can be used as a protocol to facilitate the pre-selection of possible affected adult males. At least 9.5% of males treated at the centres for the intellectually disabled in the province of Burgos, who have not been diagnosed with syndromes or exclusive disabilities, suffer from FXS. [ABSTRACT FROM AUTHOR]
    • Abstract:
      El síndrome X frágil (SXF), constituye la primera causa de discapacidad intelectual hereditaria. Es una de las alteraciones más frecuentes aunque no siempre bien conocida por los profesionales de la salud, los educadores y la sociedad. El desconocimiento provoca que un porcentaje importante de afectados esté sin diagnosticar. Hay importantes diferencias entre comunidades autónomas, en algunas, el síndrome esta infradiagnosticado, no llevándose a cabo la detección, el consejo genético ni la adecuada intervención educativa. Tras revisar las características generales del SXF, presentamos el estudio realizado en la provincia de Burgos, recogiéndose datos de 273 varones con discapacidad intelectual, 57 fueron estudiados genéticamente resultando 13 nuevos afectados. Al menos, el 9,5% de varones atendidos en los centros de discapacidad intelectual en la provincia de Burgos, no diagnosticados por síndromes o discapacidades excluyentes, están afectados de SXF. La hoja de recogida de datos (HRD-1), seleccionó los participantes a estudiar genéticamente y con las modificaciones se ha obtenido la HRD-2, que consideramos sirve como protocolo facilitador para la preselección de posibles varones adultos afectados. [ABSTRACT FROM AUTHOR]
    • Abstract:
      Copyright of Psychosocial Intervention is the property of Colegio Oficial de Psicologos de Madrid and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)