{"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":"assessing-the-burden-on-caregivers-of-mecp2-duplication-syndrome","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/de\/assessing-the-burden-on-caregivers-of-mecp2-duplication-syndrome\/","title":{"rendered":"Assessing the Burden on Caregivers of MECP2 Duplication Syndrome"},"content":{"rendered":"<p><strong>Das MECP2-Duplikationssyndrom (MDS) ist eine progressive neurogenetische St\u00f6rung mit sowohl geistigen als auch motorischen Behinderungen. Kinder mit dem Syndrom k\u00f6nnen nicht selbstst\u00e4ndig leben und verlassen sich stark auf Betreuer und insbesondere auf ihre Eltern.<\/strong><\/p>\n\n\n\n<p><strong>F\u00fcr letztere kann die Pflege eines Kindes mit progressiven Behinderungen aufgrund der st\u00e4ndigen Anpassung der Pflege und des Mangels an angemessener Unterst\u00fctzung sehr herausfordernd sein.<\/strong><\/p>\n\n\n\n<p><strong>Obwohl es sehr wichtig ist, wird das Wohlbefinden der Betreuer oft nicht als Parameter f\u00fcr die Verbesserung der Gesundheit von Menschen mit MDS angesehen. Dar\u00fcber hinaus k\u00f6nnte das Angehen der Belastung von Pflegepersonen nicht nur die Gesundheit dieser gef\u00e4hrdeten Patientengruppe verbessern, sondern auch die Lebensqualit\u00e4t ihrer Familien, was der gesamten Gesellschaft zugute k\u00e4me.<\/strong><\/p>\n\n\n\n<p><strong>Zum ersten Mal untersuchten Dr. Pehlivan und sein Team die Belastung der Betreuer von Patienten mit MECP2-Duplikationssyndrom. They first established a burden scale to evaluate the effects of the constant challenges faced by caregivers. Diese Belastungsskala wurde verwendet, um die Korrelation zwischen MDS-Merkmalen und erh\u00f6hter Belastung zu ermitteln. Die Forscher identifizierten mehrere Faktoren, die zur elterlichen Belastung beitragen konnten, und bewerteten ihre Auswirkungen mit der Belastungsskala. Die untersuchten Faktoren umfassten finanzielles Wohlergehen, Zugang zu Experten, angemessene Behandlung, verk\u00fcrzte Lebenserwartung, Verz\u00f6gerungen bei genetischen Tests und Herausforderungen f\u00fcr Familienmitglieder und das soziale Leben.<\/strong><\/p>\n\n\n\n<p><strong>Die Studie wurde zwischen September und November 2020 durchgef\u00fchrt und umfasste 101 Pflegepersonen weltweit. Das Alter der MDS-Patienten reichte von 1- bis 51-j\u00e4hrig.<\/strong><\/p>\n\n\n\n<p><strong>Die Studie ergab, dass:<\/strong><\/p>\n\n\n\n<p><strong>- Die Sorge f\u00fcr Patienten mit MDS verursacht bei den Betreuern selbst wahrgenommene \u00c4ngste, emotionale Ersch\u00f6pfung und Depressionen. Diese Gef\u00fchle tragen zu dem hohen Belastungswert bei.<\/strong><\/p>\n\n\n\n<p><strong>- Es wurde festgestellt, dass der Belastungswert mit dem Vorhandensein von Epilepsie beim MDS-Patienten zunimmt. Keine signifikanten Belastungen wurden mit Verstopfung, Infektion, Mobilit\u00e4t, Alter des MDS-Patienten oder Pflegepersonals oder der Dauer der Pflege in Verbindung gebracht. However, although the scientists attempted to identify specific symptoms or concerns, it cannot be dismissed that the combination of all these factors contribute to the caregiver's burden.<\/strong><\/p>\n\n\n\n<p><strong>- Obwohl es signifikante Unterschiede zwischen den Gesundheitssystemen gab, hatten die geographische Verteilung der MDS und ihre Pflegedienstleiter keinen Einfluss auf den Belastungsscore.<\/strong><\/p>\n\n\n\n<p><em>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<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>VER\u00d6FFENTLICHUNG ABSTRACT<\/strong><\/p>\n\n\n\n<p><strong>Background:<\/strong> MECP2 duplication syndrome (MDS) is a rare neurogenetic disorder characterized by severe neurodevelopmental disorder, refractory epilepsy, recurrent infections, and functional gastrointestinal problems. Aufgrund der erheblichen klinischen Probleme und der lebenslangen Behinderung von Kindern mit dieser St\u00f6rung haben wir angenommen, dass die Belastung f\u00fcr die Eltern\/Verwalter dieser Kinder erheblich ist. Es gibt jedoch keine Berichte \u00fcber die Auswirkungen auf die Betreuer von Personen mit MDS.<\/p>\n\n\n\n<p><strong>Methoden:<\/strong> We developed and validated a burden scale to investigate the challenges of caregivers of children and adults with MDS and identified factors contributing to the burden on caregivers. Wir entwickelten ein Health Insurance Portability and Accountability Act-compliant patient registry for families with MDS und f\u00fchrten eine Umfrage zur Belastung von Pflegern durch die Registry durch.<\/p>\n\n\n\n<p><strong>Ergebnisse:<\/strong> Von 237 ausgef\u00fcllten Umfragen waren 101 f\u00fcr die Studie geeignet. Wir ermittelten erh\u00f6hte Werte von selbst wahrgenommener Angst, Depression und emotionaler Ersch\u00f6pfung bei Betreuern, die mit h\u00f6heren Belastungswerten korrelierten. Epilepsie war das einzige klinische Merkmal, das bei Betreuern von Personen mit MDS zu einer h\u00f6heren Belastung f\u00fchrte. Au\u00dferdem wurde eine h\u00f6here Belastung bei hispanischen Pflegepersonen festgestellt. Die Dauer der Pflege korrelierte negativ mit dem Belastungswert.<\/p>\n\n\n\n<p><strong>Schlussfolgerungen:<\/strong> Dies ist die erste Studie, die die Belastung der Betreuer von Personen mit MDS untersucht und mehrere Faktoren identifiziert, die zu einer erh\u00f6hten Belastung beitragen. Die Bew\u00e4ltigung dieser Probleme hat das Potenzial, die Gesundheit von Menschen mit MDS zu verbessern und zum Wohlbefinden ihrer Betreuer beizutragen.<\/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\">Zur Ver\u00f6ffentlichung<\/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\/de\/assessing-the-burden-on-caregivers-of-mecp2-duplication-syndrome\/?lang=en\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\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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