{"id":3942,"date":"2024-10-22T10:49:50","date_gmt":"2024-10-22T16:49:50","guid":{"rendered":"https:\/\/aguilasalporvenir.com\/?p=3942"},"modified":"2024-10-22T10:49:50","modified_gmt":"2024-10-22T16:49:50","slug":"dia-internacional-del-sindrome-de-phelan-mcdermid","status":"publish","type":"post","link":"https:\/\/aguilasalporvenir.com\/index.php\/2024\/10\/22\/dia-internacional-del-sindrome-de-phelan-mcdermid\/","title":{"rendered":"D\u00eda Internacional del S\u00edndrome de Phelan-McDermid"},"content":{"rendered":"

El 22 de octubre se celebra el\u00a0D\u00eda Internacional del S\u00edndrome de Phelan-Mc Dermid<\/strong>, para sensibilizar y concienciar a la poblaci\u00f3n acerca de la detecci\u00f3n precoz de esta patolog\u00eda gen\u00e9tica poco frecuente que afecta el desarrollo cognitivo y psicomotor, as\u00ed como la capacidad de hablar.<\/p>\n

\"\"<\/p>\n

\u00bfPor qu\u00e9 se celebra?<\/h2>\n

Con la creaci\u00f3n de esta efem\u00e9ride se pretende promover la importancia de la investigaci\u00f3n de esta enfermedad, debido a la dificultad de su diagn\u00f3stico as\u00ed como la poca disponibilidad de tests de laboratorio que no permiten determinar su incidencia real.<\/p>\n

De acuerdo a las estad\u00edsticas se estima que existen aproximadamente 4.000 casos en Espa\u00f1a, de los cuales se han diagnosticado 160 pacientes.<\/p>\n

\u00bfQu\u00e9 es el S\u00edndrome de Phelan-Mc Dermid?<\/h2>\n

El\u00a0S\u00edndrome de Phelan-Mc Dermid\u00a0<\/strong>es una enfermedad rara, generada por la p\u00e9rdida espont\u00e1nea de material gen\u00e9tico (deleci\u00f3n) del extremo terminal del cromosoma 22q13, generando la mutaci\u00f3n del gen SHANK3 que afecta el desarrollo cognitivo y psicomotor, as\u00ed como la capacidad del habla.<\/p>\n

Se estima que en el 80% de los casos se genera un Trastorno del Espectro del Autismo (TEA).<\/p>\n

S\u00edntomas, diagn\u00f3stico y tratamiento<\/h2>\n

Los\u00a0s\u00edntomas y caracter\u00edsticas f\u00edsicas<\/strong>\u00a0de este s\u00edndrome son los siguientes, los cuales var\u00edan en cada paciente:<\/p>\n

    \n
  • Retraso o ausencia del lenguaje.<\/li>\n
  • Lenguaje restringido.<\/li>\n
  • Bajo tono muscular (Hipoton\u00eda).<\/li>\n
  • Retraso cognitivo.<\/li>\n
  • Dificultades con la psicomotricidad fina y gruesa.<\/li>\n
  • Movimientos bucales frecuentes.<\/li>\n
  • U\u00f1as de los pies displ\u00e1sicas.<\/li>\n
  • Crecimiento normal o acelerado.<\/li>\n
  • Poca percepci\u00f3n del dolor.<\/li>\n
  • Manos grandes y carnosas.<\/li>\n
  • Convulsiones.<\/li>\n
  • Estrabismo y problemas de visi\u00f3n.<\/li>\n<\/ul>\n

    En el diagn\u00f3stico de esta patolog\u00eda se realiza una prueba gen\u00e9tica antes de los 3 a\u00f1os denominada\u00a0CGH Array<\/strong><\/em>, para efectuar un an\u00e1lisis de los cromosomas (cariotipo) y detectar anomal\u00edas estructurales cromos\u00f3micas.<\/p>\n

    En la actualidad no se ha determinado un\u00a0tratamiento\u00a0<\/strong>para las personas afectadas por este s\u00edndrome. Se aplican terapias para paliar los s\u00edntomas y efectos de esta patolog\u00eda:<\/p>\n

    <\/figure>\n
      \n
    • Terapia f\u00edsica:<\/strong><\/em>\u00a0hidroterapia y nataci\u00f3n, masajes, psicomotricidad, equinoterapia.<\/li>\n
    • Terapia del lenguaje:\u00a0<\/em><\/strong>logopedia, Sistema PECS; lengua de signos.<\/li>\n<\/ul>\n

      \u00bfC\u00f3mo se celebra este d\u00eda internacional?<\/h2>\n

      Para conmemorar esta efem\u00e9ride se llevan a cabo eventos y actividades presenciales y virtuales, as\u00ed como la iluminaci\u00f3n de edificios p\u00fablicos y privados de color verde.<\/p>\n

      Comparte informaci\u00f3n \u00fatil e interesante en las redes sociales acerca del\u00a0D\u00eda Internacional del S\u00edndrome de Phelan-Mc Dermid<\/strong>, utilizando los hashtags\u00a0#PhelanMcDermid #PMSAD #PMSAWARENESSDAY<\/em><\/strong>.<\/p>\n

       <\/p>\n

      FUENTE:<\/p>\n

      https:\/\/www.diainternacionalde.com\/ficha<\/p>\n","protected":false},"excerpt":{"rendered":"

      El 22 de octubre se celebra el\u00a0D\u00eda Internacional del S\u00edndrome de Phelan-Mc Dermid, para sensibilizar y concienciar a la poblaci\u00f3n 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