{"id":11751,"date":"2023-01-17T00:23:00","date_gmt":"2023-01-17T00:23:00","guid":{"rendered":"https:\/\/dupmecp2.eu\/assessing-the-burden-on-caregivers-of-mecp2-duplication-syndrome\/"},"modified":"2023-04-18T07:52:31","modified_gmt":"2023-04-18T07:52:31","slug":"evaluacion-de-la-carga-que-supone-para-los-cuidadores-el-sindrome-de-duplicacion-mecp2-2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/evaluacion-de-la-carga-que-supone-para-los-cuidadores-el-sindrome-de-duplicacion-mecp2-2\/","title":{"rendered":"Evaluaci\u00f3n de la carga que supone para los cuidadores el s\u00edndrome de duplicaci\u00f3n MECP2"},"content":{"rendered":"<p><strong>El s\u00edndrome de duplicaci\u00f3n de MECP2 (SMD) es un trastorno neurogen\u00e9tico progresivo con discapacidad intelectual y motora. Los ni\u00f1os con este s\u00edndrome no pueden vivir de forma independiente y dependen en gran medida de sus cuidadores y, en particular, de sus padres.<\/strong><\/p>\n\n\n\n<p><strong>Para estos \u00faltimos, cuidar de un ni\u00f1o con discapacidades progresivas puede ser todo un reto, tanto por la constante adaptaci\u00f3n de los cuidados como por la falta de apoyo adecuado.<\/strong><\/p>\n\n\n\n<p><strong>Aunque es muy importante, el bienestar de los cuidadores no suele considerarse un par\u00e1metro para mejorar la salud de las personas con SMD. Adem\u00e1s, abordar la carga de los cuidadores no s\u00f3lo podr\u00eda mejorar la salud de esta poblaci\u00f3n vulnerable de pacientes, sino que tambi\u00e9n mejorar\u00eda la calidad de vida de sus familias, lo que redundar\u00eda en beneficio de toda la sociedad.<\/strong><\/p>\n\n\n\n<p><strong>Por primera vez, el Dr. Pehlivan y su equipo estudiaron la carga de los cuidadores de pacientes con s\u00edndrome de duplicaci\u00f3n MECP2. En primer lugar, establecieron una escala de carga para evaluar los efectos de los retos constantes a los que se enfrentan los cuidadores. Esta escala de carga se utiliz\u00f3 para identificar la correlaci\u00f3n entre las caracter\u00edsticas del SMD y el aumento de la carga. Los investigadores identificaron varios factores que podr\u00edan contribuir a la carga parental y evaluaron su impacto con la escala de carga. Los factores investigados inclu\u00edan el bienestar econ\u00f3mico, el acceso a expertos, el tratamiento adecuado, la reducci\u00f3n de la esperanza de vida, el retraso en las pruebas gen\u00e9ticas y los retos con los familiares y la vida social.<\/strong><\/p>\n\n\n\n<p><strong>En el estudio, realizado entre septiembre y noviembre de 2020, participaron 101 cuidadores de todo el mundo. La edad de los pacientes con SMD oscilaba entre 1 y 51 a\u00f1os.<\/strong><\/p>\n\n\n\n<p><strong>El estudio demostr\u00f3 que:<\/strong><\/p>\n\n\n\n<p><strong>- El cuidado de pacientes con SMD provoca ansiedad autopercibida, agotamiento emocional y depresi\u00f3n en los cuidadores. Estos sentimientos contribuyen a la elevada puntuaci\u00f3n de la carga.<\/strong><\/p>\n\n\n\n<p><strong>- Se demostr\u00f3 que la puntuaci\u00f3n de la carga aumenta con la presencia de epilepsia en el paciente con SMD. No se asoci\u00f3 ninguna carga significativa con el estre\u00f1imiento, la infecci\u00f3n, la movilidad, la edad del paciente con SMD o de los cuidadores o la duraci\u00f3n de los cuidados. Sin embargo, aunque los cient\u00edficos intentaron identificar s\u00edntomas o preocupaciones espec\u00edficas, no se puede descartar que la combinaci\u00f3n de todos estos factores contribuya a la carga del cuidador.<\/strong><\/p>\n\n\n\n<p><strong>- Aunque existen diferencias significativas entre los sistemas sanitarios, la distribuci\u00f3n geogr\u00e1fica de los MDS y sus cuidadores no influy\u00f3 en la puntuaci\u00f3n de la carga.<\/strong><\/p>\n\n\n\n<p><em>Evaluaci\u00f3n de la carga que supone para los cuidadores el s\u00edndrome de duplicaci\u00f3n MECP2 D. Pehlivan et al. Pediatr. Neurol. 2022 Aug;133:1-8 (10.1016\/j.pediatrneurol.2022.05.008)<\/em><\/p>\n\n\n\n<p><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n\n<p><strong>RESUMEN DE LA PUBLICACI\u00d3N<\/strong><\/p>\n\n\n\n<p><strong>Antecedentes:<\/strong> El s\u00edndrome de duplicaci\u00f3n de MECP2 (SMD) es un trastorno neurogen\u00e9tico poco frecuente caracterizado por un grave trastorno del neurodesarrollo, epilepsia refractaria, infecciones recurrentes y problemas gastrointestinales funcionales. Debido a los importantes problemas cl\u00ednicos y la discapacidad de por vida de los ni\u00f1os con este trastorno, planteamos la hip\u00f3tesis de que la carga que soportan los padres\/cuidadores de estos ni\u00f1os es significativa. Sin embargo, no existen informes sobre el impacto en los cuidadores de personas con SMD.<\/p>\n\n\n\n<p><strong>M\u00e9todos:<\/strong> Desarrollamos y validamos una escala de carga para investigar los retos de los cuidadores de ni\u00f1os y adultos con SMD e identificamos los factores que contribuyen a la carga de los cuidadores. Desarrollamos un registro de pacientes conforme a la Ley de Portabilidad y Responsabilidad del Seguro M\u00e9dico para familias con SMD y realizamos una encuesta sobre la carga de los cuidadores a trav\u00e9s del registro.<\/p>\n\n\n\n<p><strong>Resultados:<\/strong> De las 237 encuestas completadas, 101 cumpl\u00edan los requisitos para el estudio. Se identificaron mayores niveles de ansiedad autopercibida, depresi\u00f3n y agotamiento emocional en los cuidadores que se correlacionaron con mayores puntuaciones de carga. La epilepsia fue la \u00fanica caracter\u00edstica cl\u00ednica que caus\u00f3 una mayor carga en los cuidadores de personas con SMD. Adem\u00e1s, se encontr\u00f3 una mayor carga en los cuidadores hispanos. La duraci\u00f3n de los cuidados se correlacion\u00f3 negativamente con la puntuaci\u00f3n de la carga.<\/p>\n\n\n\n<p><strong>Conclusiones:<\/strong> Este es el primer estudio que investiga la carga de los cuidadores de personas con SMD e identifica varios factores que contribuyen a una mayor carga. Abordar estas preocupaciones tiene el potencial de mejorar la salud de las personas con SMD y contribuir al bienestar de sus cuidadores.<\/p>\n\n\n\n<p><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button is-style-fill\"><a class=\"wp-block-button__link has-white-color has-text-color has-background wp-element-button\" href=\"https:\/\/www.pedneur.com\/article\/S0887-8994(22)00089-3\/fulltext\" style=\"border-radius:10px;background-color:#f7a13f\" target=\"_blank\" rel=\"noreferrer noopener\">A la publicaci\u00f3n<\/a><\/div>\n<\/div>\n\n\n\n<div style=\"height:100px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>","protected":false},"excerpt":{"rendered":"<p>MECP2 duplication syndrome (MDS) is a progressive neurogenetic disorder with both intellectual and motor disabilities. Children with the syndrome cannot live independently and highly rely on caregivers and in particular [&hellip;]<\/p>","protected":false},"author":1,"featured_media":11715,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[88],"tags":[],"class_list":["post-11751","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications-en"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Assessing the Burden on Caregivers of MECP2 Duplication Syndrome - DupMECP2<\/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:\/\/dupmecp2.eu\/es\/evaluacion-de-la-carga-que-supone-para-los-cuidadores-el-sindrome-de-duplicacion-mecp2-2\/?lang=en\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Assessing the Burden on Caregivers of MECP2 Duplication Syndrome - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"MECP2 duplication syndrome (MDS) is a progressive neurogenetic disorder with both intellectual and motor disabilities. 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