{"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\/ja\/2023\/01\/17\/assessing-the-burden-on-caregivers-of-mecp2-duplication-syndrome\/","title":{"rendered":"MECP2\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u4ecb\u8b77\u8005\u306e\u8ca0\u62c5\u3092\u8a55\u4fa1\u3059\u308b"},"content":{"rendered":"<p><strong>MECP2\u91cd\u8907\u75c7\u5019\u7fa4\uff08MDS\uff09\u306f\u3001\u77e5\u7684\u969c\u5bb3\u3068\u904b\u52d5\u969c\u5bb3\u3092\u4f34\u3046\u9032\u884c\u6027\u306e\u795e\u7d4c\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308b\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306e\u5b50\u4f9b\u305f\u3061\u306f\u81ea\u7acb\u3057\u3066\u751f\u6d3b\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u305a\u3001\u4ecb\u8b77\u8005\u3001\u7279\u306b\u4e21\u89aa\u306b\u975e\u5e38\u306b\u4f9d\u5b58\u3057\u3066\u3044\u308b\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u5f8c\u8005\u306b\u3068\u3063\u3066\u3001\u9032\u884c\u6027\u306e\u969c\u5bb3\u3092\u6301\u3064\u5b50\u4f9b\u306e\u9762\u5012\u3092\u898b\u308b\u3053\u3068\u306f\u3001\u30b1\u30a2\u306e\u7d76\u3048\u9593\u306a\u3044\u9069\u5fdc\u3068\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u306e\u6b20\u5982\u306e\u4e21\u65b9\u306b\u3088\u308a\u3001\u975e\u5e38\u306b\u56f0\u96e3\u306a\u3053\u3068\u3067\u3042\u308b\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u975e\u5e38\u306b\u91cd\u8981\u3067\u3042\u308b\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u4ecb\u8b77\u8005\u306e\u5e78\u798f\u306f\u3057\u3070\u3057\u3070MDS\u60a3\u8005\u306e\u5065\u5eb7\u5897\u9032\u306e\u305f\u3081\u306e\u30d1\u30e9\u30e1\u30fc\u30bf\u3068\u306f\u307f\u306a\u3055\u308c\u3066\u3044\u306a\u3044\u3002\u52a0\u3048\u3066\u3001\u4ecb\u8b77\u8005\u306e\u8ca0\u62c5\u306b\u5bfe\u51e6\u3059\u308b\u3053\u3068\u306f\u3001\u3053\u306e\u8106\u5f31\u306a\u60a3\u8005\u96c6\u56e3\u306e\u5065\u5eb7\u3092\u6539\u5584\u3059\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u305d\u306e\u5bb6\u65cf\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u3001\u793e\u4f1a\u5168\u4f53\u306b\u3068\u3063\u3066\u3082\u6709\u76ca\u3067\u3042\u308b\u3002<\/strong><\/p>\n\n\n\n<p><strong>Pehlivan\u535a\u58eb\u306e\u7814\u7a76\u30c1\u30fc\u30e0\u306f\u3001MECP2\u91cd\u8907\u75c7\u5019\u7fa4\u60a3\u8005\u306e\u4ecb\u8b77\u8005\u306e\u8ca0\u62c5\u3092\u521d\u3081\u3066\u8abf\u67fb\u3057\u305f\u3002\u5f7c\u3089\u306f\u307e\u305a\u3001\u4ecb\u8b77\u8005\u304c\u76f4\u9762\u3059\u308b\u7d76\u3048\u9593\u306a\u3044\u8ab2\u984c\u306e\u5f71\u97ff\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u306e\u8ca0\u62c5\u5c3a\u5ea6\u3092\u78ba\u7acb\u3057\u305f\u3002\u3053\u306e\u8ca0\u62c5\u5c3a\u5ea6\u3092\u7528\u3044\u3066\u3001MDS\u306e\u7279\u5fb4\u3068\u8ca0\u62c5\u306e\u5897\u52a0\u3068\u306e\u76f8\u95a2\u95a2\u4fc2\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u3002\u7814\u7a76\u8005\u3089\u306f\u3001\u89aa\u306e\u8ca0\u62c5\u306b\u5bc4\u4e0e\u3057\u3046\u308b\u3044\u304f\u3064\u304b\u306e\u8981\u56e0\u3092\u7279\u5b9a\u3057\u3001\u8ca0\u62c5\u5c3a\u5ea6\u3092\u7528\u3044\u3066\u305d\u306e\u5f71\u97ff\u3092\u8a55\u4fa1\u3057\u305f\u3002\u8abf\u67fb\u3055\u308c\u305f\u8981\u56e0\u306b\u306f\u3001\u7d4c\u6e08\u7684\u306a\u8c4a\u304b\u3055\u3001\u5c02\u9580\u5bb6\u3078\u306e\u30a2\u30af\u30bb\u30b9\u3001\u9069\u5207\u306a\u6cbb\u7642\u3001\u4f59\u547d\u306e\u77ed\u7e2e\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u9045\u308c\u3001\u5bb6\u65cf\u3084\u793e\u4f1a\u751f\u6d3b\u306b\u304a\u3051\u308b\u8ab2\u984c\u306a\u3069\u304c\u542b\u307e\u308c\u305f\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u3053\u306e\u7814\u7a76\u306f2020\u5e749\u6708\u304b\u308911\u6708\u306b\u304b\u3051\u3066\u5b9f\u65bd\u3055\u308c\u3001\u4e16\u754c\u4e2d\u306e101\u4eba\u306e\u4ecb\u8b77\u8005\u304c\u53c2\u52a0\u3057\u305f\u3002MDS\u60a3\u8005\u306e\u5e74\u9f62\u306f1\u6b73\u304b\u308951\u6b73\u307e\u3067\u69d8\u3005\u3067\u3042\u3063\u305f\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u3053\u306e\u7814\u7a76\u3067\u306f\u6b21\u306e\u3053\u3068\u304c\u793a\u3055\u308c\u305f\uff1a<\/strong><\/p>\n\n\n\n<p><strong>- MDS\u60a3\u8005\u306e\u4ecb\u8b77\u306f\u3001\u4ecb\u8b77\u8005\u306b\u81ea\u5df1\u8a8d\u8b58\u306b\u3088\u308b\u4e0d\u5b89\u3001\u611f\u60c5\u7684\u75b2\u52b4\u3001\u6291\u3046\u3064\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002\u3053\u308c\u3089\u306e\u611f\u60c5\u306f\u9ad8\u3044\u8ca0\u62c5\u30b9\u30b3\u30a2\u306e\u4e00\u56e0\u3068\u306a\u3063\u3066\u3044\u308b\u3002<\/strong><\/p>\n\n\n\n<p><strong>- \u8ca0\u62c5\u30b9\u30b3\u30a2\u306f\u3001MDS\u60a3\u8005\u306e\u3066\u3093\u304b\u3093\u306e\u5b58\u5728\u306b\u3088\u3063\u3066\u5897\u52a0\u3059\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u305f\u3002\u4fbf\u79d8\u3001\u611f\u67d3\u75c7\u3001\u53ef\u52d5\u6027\u3001MDS\u60a3\u8005\u3084\u4ecb\u8b77\u8005\u306e\u5e74\u9f62\u3001\u4ecb\u8b77\u671f\u9593\u3068\u306e\u95a2\u9023\u306f\u8a8d\u3081\u3089\u308c\u306a\u304b\u3063\u305f\u3002\u3057\u304b\u3057\u3001\u79d1\u5b66\u8005\u3089\u306f\u7279\u5b9a\u306e\u75c7\u72b6\u3084\u61f8\u5ff5\u4e8b\u9805\u3092\u7279\u5b9a\u3057\u3088\u3046\u3068\u8a66\u307f\u305f\u3082\u306e\u306e\u3001\u3053\u308c\u3089\u3059\u3079\u3066\u306e\u8981\u56e0\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u4ecb\u8b77\u8005\u306e\u8ca0\u62c5\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u5426\u5b9a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u306a\u3044\u3002<\/strong><\/p>\n\n\n\n<p><strong>- \u533b\u7642\u5236\u5ea6\u306b\u306f\u5927\u304d\u306a\u9055\u3044\u304c\u3042\u308b\u304c\u3001MDS\u3068\u305d\u306e\u4ecb\u8b77\u8005\u306e\u5730\u7406\u7684\u5206\u5e03\u306f\u8ca0\u62c5\u30b9\u30b3\u30a2\u306b\u5f71\u97ff\u3057\u306a\u304b\u3063\u305f\u3002<\/strong><\/p>\n\n\n\n<p><em>MECP2\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u4ecb\u8b77\u8005\u306e\u8ca0\u62c5\u3092\u8a55\u4fa1\u3059\u308b D. Pehlivan et al.Neurol.2022 Aug;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><strong>\u51fa\u7248\u6284\u9332<\/strong><\/p>\n\n\n\n<p><strong>\u80cc\u666f<\/strong>&nbsp;MECP2\u91cd\u8907\u75c7\u5019\u7fa4\uff08MDS\uff09\u306f\u3001\u91cd\u7be4\u306a\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3001\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3001\u518d\u767a\u6027\u611f\u67d3\u75c7\u3001\u6a5f\u80fd\u6027\u80c3\u8178\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3059\u308b\u7a00\u306a\u795e\u7d4c\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308b\u3002\u3053\u306e\u969c\u5bb3\u3092\u6301\u3064\u5c0f\u5150\u306e\u81e8\u5e8a\u7684\u554f\u984c\u3084\u751f\u6daf\u306b\u308f\u305f\u308b\u969c\u5bb3\u306e\u91cd\u5927\u6027\u304b\u3089\u3001\u3053\u308c\u3089\u306e\u5c0f\u5150\u306e\u89aa\u3084\u4ecb\u8b77\u8005\u306e\u8ca0\u62c5\u306f\u5927\u304d\u3044\u3068\u3044\u3046\u4eee\u8aac\u304c\u7acb\u3066\u3089\u308c\u305f\u3002\u3057\u304b\u3057\u3001MDS\u60a3\u8005\u306e\u4ecb\u8b77\u8005\u3078\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u306e\u5831\u544a\u306f\u306a\u3044\u3002<\/p>\n\n\n\n<p><strong>\u65b9\u6cd5\uff1a<\/strong>&nbsp;\u6211\u3005\u306f\u3001MDS\u306e\u5c0f\u5150\u304a\u3088\u3073\u6210\u4eba\u306e\u4ecb\u8b77\u8005\u306e\u8ab2\u984c\u3092\u8abf\u67fb\u3059\u308b\u305f\u3081\u306e\u8ca0\u62c5\u5c3a\u5ea6\u3092\u958b\u767a\u30fb\u691c\u8a3c\u3057\u3001\u4ecb\u8b77\u8005\u306e\u8ca0\u62c5\u306b\u5bc4\u4e0e\u3059\u308b\u8981\u56e0\u3092\u7279\u5b9a\u3057\u305f\u3002\u533b\u7642\u4fdd\u967a\u306e\u76f8\u4e92\u904b\u7528\u6027\u3068\u8aac\u660e\u8cac\u4efb\u306b\u95a2\u3059\u308b\u6cd5\u5f8b\u306b\u6e96\u62e0\u3057\u305f\u3001MDS\u60a3\u8005\u5bb6\u65cf\u306e\u305f\u3081\u306e\u60a3\u8005\u30ec\u30b8\u30b9\u30c8\u30ea\u3092\u958b\u767a\u3057\u3001\u3053\u306e\u30ec\u30b8\u30b9\u30c8\u30ea\u3092\u901a\u3058\u3066\u4ecb\u8b77\u8005\u306e\u8ca0\u62c5\u306b\u95a2\u3059\u308b\u8abf\u67fb\u3092\u5b9f\u65bd\u3057\u305f\u3002<\/p>\n\n\n\n<p><strong>\u7d50\u679c<\/strong>&nbsp;237\u4ef6\u306e\u8abf\u67fb\u7968\u306e\u3046\u3061\u3001101\u4ef6\u304c\u7814\u7a76\u306e\u5bfe\u8c61\u3068\u306a\u3063\u305f\u3002\u305d\u306e\u7d50\u679c\u3001\u4ecb\u8b77\u8005\u306b\u304a\u3051\u308b\u4e0d\u5b89\u3001\u6291\u3046\u3064\u3001\u611f\u60c5\u7684\u75b2\u52b4\u306e\u81ea\u5df1\u8a8d\u8b58\u30ec\u30d9\u30eb\u306e\u4e0a\u6607\u306f\u3001\u3088\u308a\u9ad8\u3044\u8ca0\u62c5\u30b9\u30b3\u30a2\u3068\u76f8\u95a2\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u305f\u3002\u3066\u3093\u304b\u3093\u306f\u3001MDS\u60a3\u8005\u306e\u4ecb\u8b77\u8005\u306b\u9ad8\u3044\u8ca0\u62c5\u3092\u3082\u305f\u3089\u3057\u305f\u552f\u4e00\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3067\u3042\u3063\u305f\u3002\u3055\u3089\u306b\u3001\u30d2\u30b9\u30d1\u30cb\u30c3\u30af\u7cfb\u306e\u4ecb\u8b77\u8005\u3067\u306f\u3088\u308a\u9ad8\u3044\u8ca0\u62c5\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002\u4ecb\u8b77\u671f\u9593\u306f\u8ca0\u62c5\u30b9\u30b3\u30a2\u3068\u8ca0\u306e\u76f8\u95a2\u3092\u793a\u3057\u305f\u3002<\/p>\n\n\n\n<p><strong>\u7d50\u8ad6<\/strong>&nbsp;\u672c\u7814\u7a76\u306f\u3001MDS\u60a3\u8005\u306e\u4ecb\u8b77\u8005\u306e\u8ca0\u62c5\u3092\u8abf\u67fb\u3057\u3001\u8ca0\u62c5\u306e\u5897\u52a0\u306b\u5bc4\u4e0e\u3059\u308b\u3044\u304f\u3064\u304b\u306e\u8981\u56e0\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u521d\u3081\u3066\u306e\u7814\u7a76\u3067\u3042\u308b\u3002\u3053\u308c\u3089\u306e\u61f8\u5ff5\u306b\u5bfe\u51e6\u3059\u308b\u3053\u3068\u306f\u3001MDS\u60a3\u8005\u306e\u5065\u5eb7\u3092\u6539\u5584\u3057\u3001\u305d\u306e\u4ecb\u8b77\u8005\u306e\u5e78\u798f\u306b\u8ca2\u732e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><a href=\"https:\/\/www.pedneur.com\/article\/S0887-8994(22)00089-3\/fulltext\" target=\"_blank\" rel=\"noreferrer noopener\">\u51fa\u7248\u7269\u3078<\/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 cares and lack of adequate support. Although very important, the well-being of caregivers is often not regarded as a parameter to improve health of individual with MDS. In addition, the addressing caregivers\u2019 burden could not only improve the health of this vulnerable patient population but would also improve the quality of life of their families, [&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\/ja\/wp-json\/wp\/v2\/posts\/1406","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/remeds.org\/ja\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/remeds.org\/ja\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/remeds.org\/ja\/wp-json\/wp\/v2\/users\/73"}],"replies":[{"embeddable":true,"href":"https:\/\/remeds.org\/ja\/wp-json\/wp\/v2\/comments?post=1406"}],"version-history":[{"count":1,"href":"https:\/\/remeds.org\/ja\/wp-json\/wp\/v2\/posts\/1406\/revisions"}],"predecessor-version":[{"id":1407,"href":"https:\/\/remeds.org\/ja\/wp-json\/wp\/v2\/posts\/1406\/revisions\/1407"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/remeds.org\/ja\/wp-json\/wp\/v2\/media\/1408"}],"wp:attachment":[{"href":"https:\/\/remeds.org\/ja\/wp-json\/wp\/v2\/media?parent=1406"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/remeds.org\/ja\/wp-json\/wp\/v2\/categories?post=1406"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/remeds.org\/ja\/wp-json\/wp\/v2\/tags?post=1406"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}