{"id":41979,"date":"2022-10-21T12:41:15","date_gmt":"2022-10-21T10:41:15","guid":{"rendered":"https:\/\/www.laguiadepamplona.com\/actualidad\/?p=41979"},"modified":"2023-04-11T11:47:41","modified_gmt":"2023-04-11T09:47:41","slug":"la-fachada-consistorial-se-ilumina-en-verde-para-dar-mayor-visibilidad-a-la-celebracion-del-dia-internacional-del-sindrome-de-phelan-mcdermid","status":"publish","type":"post","link":"https:\/\/www.laguiadepamplona.com\/actualidad\/la-fachada-consistorial-se-ilumina-en-verde-para-dar-mayor-visibilidad-a-la-celebracion-del-dia-internacional-del-sindrome-de-phelan-mcdermid\/","title":{"rendered":"La fachada consistorial se ilumina en verde para dar mayor visibilidad a la celebraci\u00f3n del D\u00eda Internacional del S\u00edndrome de Phelan-McDermid"},"content":{"rendered":"<h5>Esta enfermedad gen\u00e9tica rara, causada por una mutaci\u00f3n, prov\u00adoca un retraso en el desarrollo, sobre todo en la capacidad de hablar<\/h5>\n<p><!--more--><\/p>\n<p>La fachada de la Casa Consistorial se ilumina ma\u00f1ana s\u00e1bado en color verde para contribuir a la celebraci\u00f3n del D\u00eda Internacional del S\u00edndrome de Phelan-McDermid. Esta condici\u00f3n gen\u00e9tica, considerada una enfermedad rara por su escasa frecuencia, est\u00e1 causada en la mayor\u00eda de los casos por la p\u00e9rdida de material gen\u00e9tico del extremo terminal del cromosoma 22. Esta mutaci\u00f3n, que no es heredada, provoca un retraso en el desarrollo, especialmente en la capacidad de hablar.<br \/>\n<script async src=\"\/\/pagead2.googlesyndication.com\/pagead\/js\/adsbygoogle.js\"><\/script><br \/>\n<!-- Noticias La Guia de Pamplona --><br \/>\n<ins class=\"adsbygoogle\"\nstyle=\"display:block\"\ndata-ad-client=\"ca-pub-6943679897239327\"\ndata-ad-slot=\"7048180777\"\ndata-ad-format=\"auto\"><\/ins><br \/>\n<script>\n(adsbygoogle = window.adsbygoogle || []).push({});\n<\/script><\/p>\n<p>El S\u00edndrome de Phelan-McDermid, tambi\u00e9n denominado deleci\u00f3n del cromosoma 22q13, afecta a las personas de diferente forma, en funci\u00f3n de su p\u00e9rdida gen\u00e9tica, si bien existen algunas caracter\u00edsticas comunes, como discapacidad intelectual, trastornos del desarrollo, ausencia o retraso del habla y s\u00edntomas de autismo o trastorno de espectro autista. Actualmente, no existe un tratamiento para esta enfermedad, pero s\u00ed terapias f\u00edsica y del lenguaje que mejoran la calidad de vida de las personas afectadas. Las terapias de atenci\u00f3n temprana propician que las ni\u00f1as y ni\u00f1os afectados puedan desarrollar al m\u00e1ximo sus capacidades.<\/p>\n<p>La Asociaci\u00f3n del S\u00edndrome de Phelan-McDermid, compuesta por familias y afectados por el s\u00edndrome y declarada de \u201cutilidad p\u00fablica\u201d en 2016, impulsa la celebraci\u00f3n de esta jornada, con el fin de sensibilizar sobre esta dolencia e insistir en la importancia de la investigaci\u00f3n, para lograr un diagn\u00f3stico precoz. La asociaci\u00f3n persigue como objetivo que las familias tengan acceso a informaci\u00f3n fiable y actualizada sobre el s\u00edndrome, as\u00ed como el fomento de la investigaci\u00f3n que lleve a encontrar una soluci\u00f3n a la enfermedad.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Esta enfermedad gen\u00e9tica rara, causada por una mutaci\u00f3n, prov\u00adoca un retraso en el desarrollo, sobre todo en la capacidad de hablar<\/p>\n","protected":false},"author":1,"featured_media":33755,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[2],"tags":[],"class_list":["post-41979","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ayuntamiento-pamplona"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>La fachada consistorial se ilumina en verde para dar mayor 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