{"id":11713,"date":"2023-01-17T00:23:00","date_gmt":"2023-01-17T00:23:00","guid":{"rendered":"https:\/\/dupmecp2.eu\/?p=11713"},"modified":"2023-01-18T09:44:55","modified_gmt":"2023-01-18T09:44:55","slug":"evaluation-de-charge","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/en\/evaluation-de-charge\/","title":{"rendered":"Assessing the burden of MECP2 duplication syndrome on carers"},"content":{"rendered":"

Le syndrome de duplication du g\u00e8ne MECP2 est un trouble neurog\u00e9n\u00e9tique progressif qui entra\u00eene des d\u00e9ficiences intellectuelles et motrices. Les enfants atteints de ce syndrome ne peuvent pas vivre de mani\u00e8re autonome et d\u00e9pendent fortement des soignants et des aidants, et en particulier de leurs parents.<\/strong><\/p>\n\n\n\n

Pour les soignants, s’occuper d’un enfant atteint de handicaps progressifs peut s’av\u00e9rer tr\u00e8s difficile en raison de l’adaptation constante des soins et du manque de soutien ad\u00e9quat.<\/strong><\/p>\n\n\n\n

Bien que tr\u00e8s importants, le confort et le bien-\u00eatre des soignants ne sont souvent pas consid\u00e9r\u00e9s comme des param\u00e8tres permettant d’am\u00e9liorer la sant\u00e9 des personnes malades. En outre, en s’attaquant \u00e0 la charge des aidants, on pourrait non seulement am\u00e9liorer la sant\u00e9 de cette population de patients vuln\u00e9rables, mais aussi la qualit\u00e9 de vie de leurs familles, ce qui serait un avantage pour la soci\u00e9t\u00e9.<\/strong><\/p>\n\n\n\n

Le Dr Pehlivan et son \u00e9quipe ont \u00e9tudi\u00e9 pour la premi\u00e8re fois la charge incombant aux soignants et aidants de patients atteints du syndrome de duplication MECP2. Dans leur \u00e9tude, ils ont d’abord \u00e9tabli une \u00e9chelle pour \u00e9valuer les effets des d\u00e9fis constants auxquels sont confront\u00e9s les soignants et les aidants. Cette \u00e9chelle a ensuite \u00e9t\u00e9 utilis\u00e9e pour identifier la corr\u00e9lation entre les sympt\u00f4mes des patients atteint du syndrome et l’augmentation de la charge incombant aux soignants et aidants. L’\u00e9tude a identifi\u00e9 plusieurs facteurs qui peuvent contribuer \u00e0 la charge parentale. Les facteurs \u00e9tudi\u00e9s comprenaient la charge financi\u00e8re, l’acc\u00e8s aux experts, l\u2019acc\u00e8s \u00e0 un traitement appropri\u00e9, l’esp\u00e9rance de vie raccourcie, le retard dans les tests g\u00e9n\u00e9tiques et les d\u00e9fis avec les membres de la famille et la vie sociale.<\/strong><\/p>\n\n\n\n

L’\u00e9tude a \u00e9t\u00e9 men\u00e9e entre septembre et novembre 2020 aupr\u00e8s de 101 soignants du monde entier, l’\u00e2ge des patients atteints du syndrome variant de 1 \u00e0 51 ans.<\/strong><\/p>\n\n\n\n

L’\u00e9tude a montr\u00e9 que :<\/strong><\/p>\n\n\n\n

– Le fait de s’occuper d’un patient atteint de MDS provoque une anxi\u00e9t\u00e9 auto-per\u00e7ue, un \u00e9puisement \u00e9motionnel et une d\u00e9pression chez les soignants. Ces sentiments contribuent \u00e0 un score de charge \u00e9lev\u00e9.<\/strong><\/p>\n\n\n\n

– Il a \u00e9t\u00e9 d\u00e9montr\u00e9 que la pr\u00e9sence de crises d\u2019\u00e9pilepsie chez les patients atteints de MDS est responsable de l\u2019augmentation du score de charge. Aucune charge significative n’a \u00e9t\u00e9 associ\u00e9e \u00e0 la constipation, l’infection, la mobilit\u00e9, l’\u00e2ge du patient MDS ou celle des soignants, la dur\u00e9e des soins. Cependant, il ne peut \u00eatre exclu que la combinaison de tous ces sympt\u00f4mes ou pr\u00e9occupations sp\u00e9cifiques ne contribue \u00e0 alourdir la charge des soignants.<\/strong><\/p>\n\n\n\n

– Bien qu’il existe des diff\u00e9rences significatives entre les syst\u00e8mes de sant\u00e9, la r\u00e9partition g\u00e9ographique des MDS et de leurs soignants n’a pas influenc\u00e9 le score de la charge.<\/strong><\/p>\n\n\n\n

Assessing the Burden on Caregivers of MECP2 Duplication Syndrome D. Pehlivan et al. Pediatr. Neurol. 2022 Aug;133:1-8 (10.1016\/j.pediatrneurol.2022.05.008)<\/em><\/p>\n\n\n\n

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R\u00c9SUM\u00c9 DE LA PUBLICATION<\/strong><\/p>\n\n\n\n

Contexte :<\/strong> Le syndrome de duplication de MECP2 (MDS) est un trouble neurog\u00e9n\u00e9tique rare caract\u00e9ris\u00e9 par un trouble grave du d\u00e9veloppement neurologique, une \u00e9pilepsie r\u00e9fractaire, des infections r\u00e9currentes et des probl\u00e8mes gastro-intestinaux fonctionnels. En raison des probl\u00e8mes cliniques importants et de l’invalidit\u00e9 \u00e0 vie des enfants atteints de ce trouble, nous avons \u00e9mis l’hypoth\u00e8se que la charge incombant aux parents\/soignants\/aidants de ces enfants est importante. Cependant, il n’existe aucun rapport sur l’impact de cette charge sur les soignants\/aidants des personnes atteintes du syndrome de duplication du g\u00e8ne MECP2.<\/p>\n\n\n\n

M\u00e9thodes :<\/strong> Nous avons d\u00e9velopp\u00e9 et valid\u00e9 une \u00e9chelle de charge pour \u00e9tudier les d\u00e9fis des soignants d’enfants et d’adultes atteints du syndrome et identifi\u00e9 les facteurs contribuant \u00e0 la charge des soignants. Nous avons d\u00e9velopp\u00e9 un registre de patients conforme \u00e0 la loi sur la portabilit\u00e9 et la responsabilit\u00e9 en mati\u00e8re d’assurance maladie pour les familles atteintes du syndrome et nous avons r\u00e9alis\u00e9 une enqu\u00eate sur la charge des soignants par le biais de ce registre.<\/p>\n\n\n\n

R\u00e9sultats : <\/strong>Sur 237 questionnaires remplis, 101 \u00e9taient \u00e9ligibles pour l’\u00e9tude. Nous avons identifi\u00e9 des niveaux accrus d’anxi\u00e9t\u00e9, de d\u00e9pression et d’\u00e9puisement \u00e9motionnel chez les soignants, en corr\u00e9lation avec des scores de charge plus \u00e9lev\u00e9s. L’\u00e9pilepsie est la seule caract\u00e9ristique clinique qui entra\u00eene une charge plus lourde pour les aidants de personnes atteintes du syndrome. La charge \u00e9tait plus \u00e9lev\u00e9e chez les soignants hispaniques. La dur\u00e9e des soins est en corr\u00e9lation n\u00e9gative avec le score de charge.<\/p>\n\n\n\n

Conclusions :<\/strong> Il s’agit de la premi\u00e8re \u00e9tude visant \u00e0 examiner la charge des aidants de personnes atteintes du syndrome MDS et \u00e0 identifier plusieurs facteurs contribuant \u00e0 l’augmentation de la charge. La prise en compte de ces pr\u00e9occupations permet d’am\u00e9liorer la sant\u00e9 des personnes atteintes du syndrome de duplication et de contribuer au bien-\u00eatre de leurs soignants et aidants.<\/p>\n\n\n\n

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To the publication<\/a><\/div>\n<\/div>\n\n\n\n
<\/div>","protected":false},"excerpt":{"rendered":"

Le syndrome de duplication du g\u00e8ne MECP2 est un trouble neurog\u00e9n\u00e9tique progressif qui entra\u00eene des d\u00e9ficiences intellectuelles et motrices. Les enfants atteints de ce syndrome ne peuvent pas vivre de […]<\/p>","protected":false},"author":1,"featured_media":11714,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[],"class_list":["post-11713","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications"],"yoast_head":"\n\u00c9valuation de la charge que repr\u00e9sente le syndrome de duplication MECP2 pour les soignants - 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\/en\/evaluation-de-charge\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"\u00c9valuation de la charge que repr\u00e9sente le syndrome de duplication MECP2 pour les soignants - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Le syndrome de duplication du g\u00e8ne MECP2 est un trouble neurog\u00e9n\u00e9tique progressif qui entra\u00eene des d\u00e9ficiences intellectuelles et motrices. 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