{"id":240,"date":"2023-06-07T13:01:41","date_gmt":"2023-06-07T11:01:41","guid":{"rendered":"https:\/\/www.ampnee.org\/blog\/?p=240"},"modified":"2023-06-07T13:01:42","modified_gmt":"2023-06-07T11:01:42","slug":"dia-internacional-del-sindrome-de-williams-20-05","status":"publish","type":"post","link":"https:\/\/www.ampnee.org\/blog\/dia-internacional-del-sindrome-de-williams-20-05\/","title":{"rendered":"D\u00eda internacional del S\u00edndrome de Williams (20\/05)"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">El s\u00edndrome de Williams es, tambi\u00e9n, conocido como s\u00edndrome Williams-Beuren, con una incidencia de 1 persona por cada 20.000, por lo que se considera una enfermedad rara. Empero, a partir de la difusi\u00f3n en asociaciones y del progreso en la investigaci\u00f3n sanitaria se ha observado una incidencia de 1 persona por cada 7.500 (Orphanet de la Discapacidad, 2017; Garayz\u00e1bal y Cap\u00f3, 2009, y Mu\u00f1oz-Ruata, 2004, citados en Puente Ferreras et al., 2011). Se trata de un trastorno del desarrollo causado por una \u201cmicrodeleci\u00f3n cromos\u00f3mica situada en la regi\u00f3n q11.23 de uno de los cromosomas 7\u201d (Orphanet de la Discapacidad, 2017, p.1).\u00a0<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Resulta ser un s\u00edndrome de gran inter\u00e9s para los neurocient\u00edficos, para los psic\u00f3logos y para los psicopedagogos, puesto que es una patolog\u00eda paradigm\u00e1tica e, incluso, parad\u00f3jica, debido a que permite poner a prueba algunas de las teor\u00edas acerca de la mente y de c\u00f3mo funcionan los sistemas modulares cerebrales. Esto se debe a que, pese a su discapacidad intelectual moderada, se observan ventajas en el lenguaje, en la memoria auditiva, en el reconocimiento facial, en la capacidad emp\u00e1tica y en las habilidades musicales (Puente Ferreras et al., 2011; y Reis et al., 2003, citados en Puente Ferreras et al., 2011).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Respecto a su sintomatolog\u00eda, puede provocar malformaciones card\u00edacas en el 75% de los casos, retrasos psicomotores, rasgos faciales espec\u00edficos, discapacidad cognitiva y alteraciones conductuales. Igualmente, se puede apreciar (Orphanet de la Discapacidad, 2017):<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Alteraciones en las habilidades visoespaciales.&nbsp;<\/li>\n\n\n\n<li>Lenguaje adecuado.&nbsp;<\/li>\n\n\n\n<li>Conducta hipersocial, al tener facilidades para relacionarse con la gente.&nbsp;<\/li>\n\n\n\n<li>Hipersensibilidad a los ruidos.&nbsp;<\/li>\n\n\n\n<li>Habilidades musicales.&nbsp;<\/li>\n\n\n\n<li>Mayor probabilidad de caries, a causa de una hipoplasia en el esmalte.&nbsp;<\/li>\n\n\n\n<li>Estrabismos o alteraciones en la refracci\u00f3n, en el 40% de los casos.<\/li>\n\n\n\n<li>Malformaciones vasculares, provocando una hipertensi\u00f3n arterial renovascular.&nbsp;<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Centr\u00e1ndonos en los rasgos faciales, se observa una fisonom\u00eda denominada \u201ccara de duende\u201d, cuyos rasgos son (Puente Ferreras et al., 2011):&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Cara fina y alargada.&nbsp;<\/li>\n\n\n\n<li>Hinchaz\u00f3n alrededor de los ojos.&nbsp;<\/li>\n\n\n\n<li>Frente ancha.<\/li>\n\n\n\n<li>Nariz plana.&nbsp;<\/li>\n\n\n\n<li>Poco ment\u00f3n.<\/li>\n\n\n\n<li>Labios abultados.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Asimismo, los ni\u00f1os con este s\u00edndrome nacen con bajo peso. En este per\u00edodo neonatal suelen presentarse muchos lloros y dificultades para conciliar el sue\u00f1o, a causa de su hipersensibilidad al ruido; adem\u00e1s de poder desarrollar hipercalcemia, siendo la presencia de \u00edndices elevados de calcio en la sangre. Pueden tener un aparato digestivo delicado con constantes v\u00f3mitos, estre\u00f1imiento y alteraciones tanto en la succi\u00f3n como en la alimentaci\u00f3n (Puente Ferreras et al., 2011).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Referencias bibliogr\u00e1ficas<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Orphanet de la Discapacidad. (2017). <em>S\u00edndrome de Williams<\/em>. Enciclopedia Orphanet de la Discapacidad. <a href=\"https:\/\/www.orpha.net\/data\/patho\/Han\/Int\/es\/SindromeWilliams_Es_es_HAN_ORPHA904.pdf\">https:\/\/www.orpha.net\/data\/patho\/Han\/Int\/es\/SindromeWilliams_Es_es_HAN_ORPHA904.pdf<\/a>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Puente Ferreras, A., Fern\u00e1ndez Lozano, M.P., Alvarado Izquierdo, J.M., y Jim\u00e9nez Rodr\u00edguez, V. (2011). S\u00edndrome Williams: una enfermedad rara con sintomatolog\u00eda contradictoria. <em>Revista Latinoamericana de Psicolog\u00eda, 2<\/em>(43), 217-228.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>El s\u00edndrome de Williams es, tambi\u00e9n, conocido como s\u00edndrome Williams-Beuren, con una incidencia de 1 persona por cada 20.000, por lo que se considera una &hellip; <\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[26,18,41],"class_list":["post-240","post","type-post","status-publish","format-standard","hentry","category-informacion","tag-inclusion-social","tag-necesidadeseducativasespeciales","tag-sindrome-de-williams"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>D\u00eda internacional del S\u00edndrome de Williams (20\/05) - 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