{"id":1406,"date":"2023-01-17T17:33:00","date_gmt":"2023-01-17T16:33:00","guid":{"rendered":"https:\/\/remeds.org\/?p=1406"},"modified":"2025-02-06T17:35:24","modified_gmt":"2025-02-06T16:35:24","slug":"assessing-the-burden-on-caregivers-of-mecp2-duplication-syndrome","status":"publish","type":"post","link":"https:\/\/remeds.org\/tr\/2023\/01\/17\/assessing-the-burden-on-caregivers-of-mecp2-duplication-syndrome\/","title":{"rendered":"MECP2 Duplikasyon Sendromunun Bak\u0131m Verenler \u00dczerindeki Y\u00fck\u00fcn\u00fcn De\u011ferlendirilmesi"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>MECP2 duplikasyon sendromu (MDS) hem zihinsel hem de motor engellerle seyreden ilerleyici bir n\u00f6rogenetik hastal\u0131kt\u0131r. Sendromlu \u00e7ocuklar ba\u011f\u0131ms\u0131z ya\u015fayamazlar ve bak\u0131c\u0131lar\u0131na, \u00f6zellikle de ebeveynlerine b\u00fcy\u00fck \u00f6l\u00e7\u00fcde g\u00fcvenirler.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u0130kincisi i\u00e7in, ilerleyici engelleri olan bir \u00e7ocu\u011fa bakmak, hem bak\u0131m\u0131n s\u00fcrekli uyarlanmas\u0131 hem de yeterli deste\u011fin olmamas\u0131 nedeniyle \u00e7ok zor olabilir.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u00c7ok \u00f6nemli olmas\u0131na ra\u011fmen, bak\u0131m verenlerin refah\u0131 genellikle MDS'li bireylerin sa\u011fl\u0131\u011f\u0131n\u0131 iyile\u015ftirmek i\u00e7in bir parametre olarak g\u00f6r\u00fclmemektedir. Buna ek olarak, bak\u0131m verenlerin y\u00fck\u00fcn\u00fcn ele al\u0131nmas\u0131 yaln\u0131zca bu hassas hasta pop\u00fclasyonunun sa\u011fl\u0131\u011f\u0131n\u0131 iyile\u015ftirmekle kalmayacak, ayn\u0131 zamanda ailelerinin ya\u015fam kalitesini de art\u0131racak ve bu da t\u00fcm topluma fayda sa\u011flayacakt\u0131r.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Dr. Pehlivan ve ekibi ilk kez MECP2 duplikasyon sendromlu hastalara bak\u0131m verenlerin y\u00fck\u00fcn\u00fc inceledi. \u0130lk olarak, bak\u0131m verenlerin kar\u015f\u0131la\u015ft\u0131\u011f\u0131 s\u00fcrekli zorluklar\u0131n etkilerini de\u011ferlendirmek i\u00e7in bir y\u00fck \u00f6l\u00e7e\u011fi olu\u015fturdular. Bu y\u00fck \u00f6l\u00e7e\u011fi, MDS \u00f6zellikleri ile artan y\u00fck aras\u0131ndaki korelasyonu belirlemek i\u00e7in kullan\u0131ld\u0131. Ara\u015ft\u0131rmac\u0131lar, ebeveyn y\u00fck\u00fcne katk\u0131da bulunabilecek \u00e7e\u015fitli fakt\u00f6rler belirlemi\u015f ve bunlar\u0131n etkisini y\u00fck \u00f6l\u00e7e\u011fi ile de\u011ferlendirmi\u015ftir. \u0130ncelenen fakt\u00f6rler aras\u0131nda mali refah, uzmanlara eri\u015fim, uygun tedavi, k\u0131salan ya\u015fam beklentisi, genetik testlerde gecikme ve aile \u00fcyeleri ve sosyal ya\u015famla ilgili zorluklar yer almaktad\u0131r.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Eyl\u00fcl ve Kas\u0131m 2020 tarihleri aras\u0131nda ger\u00e7ekle\u015ftirilen \u00e7al\u0131\u015fmaya d\u00fcnya \u00e7ap\u0131nda 101 hasta bak\u0131c\u0131 dahil edilmi\u015ftir. MDS hastalar\u0131n\u0131n ya\u015flar\u0131 1 ila 51 aras\u0131nda de\u011fi\u015fmektedir.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u00c7al\u0131\u015fma \u015funu g\u00f6stermi\u015ftir:<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>- MDS'li hastalara bakmak, bak\u0131m verenlerde kendi alg\u0131lad\u0131klar\u0131 anksiyeteye, duygusal t\u00fckenmeye ve depresyona neden olur. Bu duygular y\u00fcksek y\u00fck puan\u0131na katk\u0131da bulunur.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>- MDS hastas\u0131nda epilepsi varl\u0131\u011f\u0131yla birlikte y\u00fck skorunun artt\u0131\u011f\u0131 g\u00f6sterilmi\u015ftir. Kab\u0131zl\u0131k, enfeksiyon, hareketlilik, MDS hastas\u0131n\u0131n veya bak\u0131m verenlerin ya\u015f\u0131 veya bak\u0131m s\u00fcresi ile anlaml\u0131 bir y\u00fck ili\u015fkilendirilmemi\u015ftir. Bununla birlikte, bilim insanlar\u0131 spesifik semptomlar\u0131 veya endi\u015feleri tan\u0131mlamaya \u00e7al\u0131\u015fm\u0131\u015f olsalar da, t\u00fcm bu fakt\u00f6rlerin kombinasyonunun bak\u0131c\u0131n\u0131n y\u00fck\u00fcne katk\u0131da bulundu\u011fu g\u00f6z ard\u0131 edilemez.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>- Sa\u011fl\u0131k sistemleri aras\u0131nda \u00f6nemli farkl\u0131l\u0131klar olmas\u0131na ra\u011fmen, MDS'nin ve bak\u0131m verenlerinin co\u011frafi da\u011f\u0131l\u0131m\u0131 y\u00fck skorunu etkilememi\u015ftir.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em>MECP2 Duplikasyon Sendromunun Bak\u0131c\u0131lar \u00dczerindeki Y\u00fck\u00fcn\u00fcn De\u011ferlendirilmesi D. Pehlivan et al. Pediatr. Neurol. 2022 A\u011fustos;133:1-8 (10.1016\/j.pediatrneurol.2022.05.008)<\/em><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>YAYIN \u00d6ZET\u0130<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Arka plan:<\/strong>&nbsp;MECP2 duplikasyon sendromu (MDS) ciddi n\u00f6rogeli\u015fimsel bozukluk, diren\u00e7li epilepsi, tekrarlayan enfeksiyonlar ve fonksiyonel gastrointestinal problemlerle karakterize nadir bir n\u00f6rogenetik bozukluktur. Bu bozuklu\u011fa sahip \u00e7ocuklar\u0131n \u00f6nemli klinik sorunlar\u0131 ve ya\u015fam boyu engellilik durumlar\u0131 nedeniyle, bu \u00e7ocuklar\u0131n ebeveynleri\/bak\u0131c\u0131lar\u0131 \u00fczerindeki y\u00fck\u00fcn \u00f6nemli oldu\u011funu varsayd\u0131k. Ancak, MDS'li bireylerin bak\u0131c\u0131lar\u0131 \u00fczerindeki etkiye ili\u015fkin herhangi bir rapor bulunmamaktad\u0131r.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Y\u00f6ntemler:<\/strong>&nbsp;MDS'li \u00e7ocuklar\u0131n ve yeti\u015fkinlerin bak\u0131c\u0131lar\u0131n\u0131n zorluklar\u0131n\u0131 ara\u015ft\u0131rmak i\u00e7in bir y\u00fck \u00f6l\u00e7e\u011fi geli\u015ftirdik ve do\u011frulad\u0131k ve bak\u0131c\u0131lar \u00fczerindeki y\u00fcke katk\u0131da bulunan fakt\u00f6rleri belirledik. MDS'li aileler i\u00e7in Sa\u011fl\u0131k Sigortas\u0131 Ta\u015f\u0131nabilirlik ve Sorumluluk Yasas\u0131 ile uyumlu bir hasta kay\u0131t defteri geli\u015ftirdik ve kay\u0131t defteri arac\u0131l\u0131\u011f\u0131yla bir bak\u0131c\u0131 y\u00fck\u00fc anketi uygulad\u0131k.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Sonu\u00e7lar:<\/strong>&nbsp;Tamamlanan 237 anketten 101'i \u00e7al\u0131\u015fma i\u00e7in uygun bulunmu\u015ftur. Bak\u0131m verenlerde, daha y\u00fcksek y\u00fck skorlar\u0131 ile korelasyon g\u00f6steren, kendi kendine alg\u0131lanan anksiyete, depresyon ve duygusal t\u00fckenme d\u00fczeylerinde art\u0131\u015f tespit ettik. Epilepsi, MDS'li bireylerin bak\u0131m verenlerinde daha y\u00fcksek y\u00fcke neden olan tek klinik \u00f6zellikti. Buna ek olarak, Hispanik bak\u0131c\u0131larda daha y\u00fcksek bir y\u00fck bulunmu\u015ftur. Bak\u0131m s\u00fcresi y\u00fck skoru ile negatif korelasyon g\u00f6stermi\u015ftir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Sonu\u00e7lar:<\/strong>&nbsp;Bu \u00e7al\u0131\u015fma, MDS'li bireylerin bak\u0131c\u0131lar\u0131 \u00fczerindeki y\u00fck\u00fc ara\u015ft\u0131ran ve y\u00fck\u00fcn artmas\u0131na katk\u0131da bulunan \u00e7e\u015fitli fakt\u00f6rleri belirleyen ilk \u00e7al\u0131\u015fmad\u0131r. Bu endi\u015felerin ele al\u0131nmas\u0131, MDS'li bireylerin sa\u011fl\u0131\u011f\u0131n\u0131 iyile\u015ftirme ve bak\u0131c\u0131lar\u0131n\u0131n refah\u0131na katk\u0131da bulunma potansiyeline sahiptir.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.pedneur.com\/article\/S0887-8994(22)00089-3\/fulltext\" target=\"_blank\" rel=\"noreferrer noopener\">Yay\u0131na bak\u0131n\u0131z<\/a><\/p>","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 on their parents. For the latter, taking care of a child with progressive disabilities can be very challenging due to both the constant adaptation of [&hellip;]<\/p>\n","protected":false},"author":73,"featured_media":1408,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_jf_save_progress":"","footnotes":""},"categories":[13],"tags":[],"class_list":["post-1406","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publication"],"_links":{"self":[{"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/posts\/1406","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/users\/73"}],"replies":[{"embeddable":true,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/comments?post=1406"}],"version-history":[{"count":1,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/posts\/1406\/revisions"}],"predecessor-version":[{"id":1407,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/posts\/1406\/revisions\/1407"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/media\/1408"}],"wp:attachment":[{"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/media?parent=1406"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/categories?post=1406"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/tags?post=1406"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}