{"id":97,"date":"2022-01-26T12:37:11","date_gmt":"2022-01-26T11:37:11","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=97"},"modified":"2026-03-16T11:49:46","modified_gmt":"2026-03-16T10:49:46","slug":"ern-ithaca-guidelines","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/es\/guidelines\/ern-ithaca-guidelines\/","title":{"rendered":"Directrices de la ERN ITHACA"},"content":{"rendered":"

Gu\u00edas de pr\u00e1ctica cl\u00ednica y declaraciones de consenso de expertos sobre ERN-ITHACA<\/h2>\n\n\n\n

Gu\u00edas de pr\u00e1ctica cl\u00ednica <\/strong>(CPG) y declaraciones de consenso de expertos<\/strong> (Las ECS) son recomendaciones sobre c\u00f3mo diagnosticar y tratar una afecci\u00f3n m\u00e9dica. Las redactan expertos m\u00e9dicos con el apoyo de representantes de los pacientes, y est\u00e1n dirigidas a m\u00e9dicos, enfermeros o cualquier tipo de profesional sanitario.  <\/p>\n\n\n\n

Una gu\u00eda de pr\u00e1ctica cl\u00ednica resume los conocimientos m\u00e9dicos actuales sobre una enfermedad determinada, eval\u00faa los beneficios y los riesgos de los procedimientos diagn\u00f3sticos y los tratamientos, y ofrece recomendaciones espec\u00edficas basadas en esta informaci\u00f3n. <\/p>\n\n\n\n

El grupo de trabajo sobre las directrices ITHACA se dedica a identificar y, posteriormente, centrarse en una serie de \u00e1mbitos en los que el desarrollo y la aplicaci\u00f3n de declaraciones de consenso estandarizadas ser\u00eda lo m\u00e1s beneficioso para la comunidad de pacientes y sus familias<\/strong> que padecen trastornos del desarrollo y discapacidad intelectual. <\/p>\n\n\n\n

Hasta ahora, el grupo de trabajo ha elaborado 10 grupos de expertos multidisciplinares<\/strong> trabajar en la redacci\u00f3n de 10 nuevas gu\u00edas de pr\u00e1ctica cl\u00ednica. Ya se han completado 5 de ellas. Se pueden consultar a continuaci\u00f3n:<\/p>\n\n\n\n

<\/p>\n\n\n\n

\n
\n
Beckwith-Wiedemann
s\u00edndrome<\/div>
Abril de 2018<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Valproato
embriopat\u00eda<\/div>
Octubre de 2018<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Cornelia de Lange
s\u00edndrome<\/div>
Julio de 2019<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n<\/div>\n\n\n\n
\n
\n
Phelan-McDermid
s\u00edndrome<\/div>
Mayo de 2023<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Rubinstein-Taybi
s\u00edndrome<\/div>
Mayo de 2024<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Disrafismos espinales en ni\u00f1os
y adolescentes<\/div>
Febrero de 2025<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n<\/div>\n\n\n\n
\n
\n
Kleefstra
s\u00edndrome<\/div>
Enero de 2026<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Transici\u00f3n
\u2019De los ni\u00f1os a los adultos\u00bb
atenci\u00f3n sanitaria<\/div>
Marzo de 2026<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

Gu\u00edas de pr\u00e1ctica cl\u00ednica y declaraciones de consenso de expertos elaboradas conjuntamente por ITHACA<\/h2>\n\n\n\n

<\/p>\n\n\n\n

\n
\n
Bardet-Biedl
s\u00edndrome<\/div>
Abril de 2018<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n
<\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

P\u00e1ginas web con directrices y declaraciones de consenso disponibles en Internet<\/h2>\n\n\n\n

Adem\u00e1s de elaborar estas declaraciones de consenso, tambi\u00e9n estamos analizando las que ya existen en todos los Estados miembros, c\u00f3mo podemos respaldar su contenido y traducirlas, y c\u00f3mo podemos garantizar que lleguen al p\u00fablico m\u00e1s amplio posible. Teniendo esto en cuenta, a continuaci\u00f3n nos gustar\u00eda destacar algunas gu\u00edas que creemos que te pueden resultar \u00fatiles y que nuestra red se plantear\u00e1 respaldar en el futuro.<\/strong>
<\/p>\n\n\n\n

\n
\n
\"\"<\/figure>\n<\/div>\n\n\n\n
\n

Orphanet<\/h3>\n\n\n\n

Orphanet<\/a> es una p\u00e1gina web europea que ofrece un inventario y una clasificaci\u00f3n de las enfermedades raras (ER), en la que cada entrada cuenta con su propio c\u00f3digo ORPHA, una enciclopedia de art\u00edculos de revisi\u00f3n redactados por expertos y revisados por pares, diversas gu\u00edas cl\u00ednicas, criterios de diagn\u00f3stico, orientaciones para las pruebas gen\u00e9ticas, fichas informativas sobre discapacidad, etc., y un directorio de servicios (cl\u00ednicas, laboratorios, proyectos de investigaci\u00f3n, registros, ensayos cl\u00ednicos y asociaciones de pacientes).<\/p>\n\n\n\n

ITHACA colabora con ORPHANET para apoyar la enciclopedia sobre enfermedades raras y enriquecer sus entradas relativas a las enfermedades que abarca ITHACA: hasta la fecha se han revisado y actualizado 72 res\u00famenes.<\/p>\n<\/div>\n<\/div>\n\n\n\n

\n
\n
\"\"<\/figure>\n<\/div>\n\n\n\n
\n

Rese\u00f1as generales<\/h3>\n\n\n\n

GeneReviews<\/a> es un recurso internacional para la atenci\u00f3n cl\u00ednica que consiste en una base de datos en l\u00ednea con art\u00edculos estandarizados y revisados por pares que describen enfermedades hereditarias espec\u00edficas. Fue creada en 1997 con el nombre de GeneClinics por Roberta A. Pagon (Universidad de Washington), con financiaci\u00f3n de los Institutos Nacionales de Salud. Se centra principalmente en los trastornos monog\u00e9nicos y ofrece informaci\u00f3n actualizada espec\u00edfica sobre cada trastorno en lo que respecta al diagn\u00f3stico, el tratamiento y el asesoramiento gen\u00e9tico. En cada art\u00edculo se incluyen enlaces a recursos espec\u00edficos de la enfermedad y\/o generales para el p\u00fablico en general, siempre que est\u00e9n disponibles. La base de datos se publica en el sitio web \u00abBookshelf\u00bb del Centro Nacional de Informaci\u00f3n Biotecnol\u00f3gica (NCBI). Cada cap\u00edtulo est\u00e1 redactado por uno o varios expertos en la afecci\u00f3n o enfermedad espec\u00edfica y se somete a un riguroso proceso de edici\u00f3n y revisi\u00f3n por pares antes de su publicaci\u00f3n en l\u00ednea. Los art\u00edculos se actualizan cada dos o tres a\u00f1os, o seg\u00fan sea necesario, y se revisan siempre que se produzcan cambios significativos en la informaci\u00f3n cl\u00ednicamente relevante. Se puede realizar b\u00fasquedas en los art\u00edculos por autor, t\u00edtulo, gen y nombre de la enfermedad o prote\u00edna, y est\u00e1n disponibles de forma gratuita.<\/p>\n\n\n\n

Genereviews ofrece informaci\u00f3n cl\u00ednicamente relevante y de aplicaci\u00f3n m\u00e9dica sobre enfermedades hereditarias en un formato estandarizado, similar al de una revista cient\u00edfica, que abarca el diagn\u00f3stico, el tratamiento y el asesoramiento gen\u00e9tico para los pacientes y sus familias.\u00a0GeneReviews cuenta actualmente con casi 800 cap\u00edtulos, que siguen dos formatos generales: 1) cap\u00edtulos centrados en un \u00fanico gen o fenotipo; 2) res\u00famenes que recogen las causas gen\u00e9ticas de enfermedades comunes.<\/p>\n<\/div>\n<\/div>\n\n\n\n

<\/p>\n\n\n\n

<\/p>\n\n\n\n

<\/p>","protected":false},"excerpt":{"rendered":"

ERN-ITHACA clinical practice guidelines and experts consensus statements Clinical practice guidelines (CPGs) and experts consensus statements (ECSs) are recommendations on how to diagnose and treat a medical condition. They are written by medical experts with the support of patient\u2019s representatives, and are directed to doctors, nurses or any kind of health care professionals.   A CPG summarizes […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":3042,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"template-pages\/template-page-navigation-submenu.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-97","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nERN ITHACA Guidelines - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ern-ithaca.eu\/es\/guidelines\/ern-ithaca-guidelines\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN ITHACA Guidelines - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"ERN-ITHACA clinical practice guidelines and experts consensus statements Clinical practice guidelines (CPGs) and experts consensus statements (ECSs) are recommendations on how to diagnose and treat a medical condition. 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