{"id":122446,"date":"2026-01-13T17:07:34","date_gmt":"2026-01-13T08:07:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122446"},"modified":"2026-03-31T16:50:58","modified_gmt":"2026-03-31T07:50:58","slug":"rett-syndrome-comprehensive-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/rett-syndrome-comprehensive-guide\/","title":{"rendered":"\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\uff08Rett Syndrome\uff09"},"content":{"rendered":"\n<p>\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3092\u805e\u304d\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u7591\u3044\u304c\u3042\u308b\u3068\u8a00\u308f\u308c\u3001\u60c5\u5831\u3092\u6c42\u3081\u3066\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u304b\u308c\u305f\u3054\u5bb6\u65cf\u306e\u65b9\u3078\u3002<\/p>\n\n\n\n<p>\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u3001\u305d\u3057\u3066\u300c\u9032\u884c\u6027\u300d\u300c\u96e3\u75c5\u300d\u3068\u3044\u3046\u8a00\u8449\u306b\u3001\u4eca\u306f\u9a5a\u304d\u3084\u6238\u60d1\u3044\u3001\u6df1\u3044\u4e0d\u5b89\u306e\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3059\u308b\u3068\u3001\u53e4\u3044\u60c5\u5831\u3084\u53b3\u3057\u3044\u75c7\u72b6\u306e\u8a18\u8ff0\u3070\u304b\u308a\u304c\u76ee\u306b\u3064\u304d\u3001\u80f8\u3092\u75db\u3081\u3066\u3044\u308b\u65b9\u3082\u5c11\u306a\u304f\u306a\u3044\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3069\u3046\u304b\u77e5\u3063\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u306e\u7814\u7a76\u306f\u8fd1\u5e74\u3001\u98db\u8e8d\u7684\u306b\u9032\u3093\u3067\u3044\u307e\u3059\u3002\u304b\u3064\u3066\u306f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u53d6\u308c\u306a\u3044\u3068\u601d\u308f\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u306f\u300c\u8996\u7dda\u300d\u3092\u4f7f\u3063\u3066\u8c4a\u304b\u306b\u610f\u601d\u3092\u4f1d\u3048\u3089\u308c\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u4e16\u754c\u4e2d\u3067\u6cbb\u7642\u85ac\u306e\u958b\u767a\u3082\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u3068\u3054\u5bb6\u65cf\u304c\u3001\u3053\u308c\u304b\u3089\u306e\u751f\u6d3b\u3092\u524d\u5411\u304d\u306b\u6b69\u3093\u3067\u3044\u304f\u305f\u3081\u306e\u9053\u3057\u308b\u3079\u3068\u306a\u308c\u3070\u5e78\u3044\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rett-syndrome-comprehensive-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >\u6cbb\u7642\u3068\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rett-syndrome-comprehensive-guide\/#1_%E5%8C%BB%E7%99%82%E7%9A%84%E3%81%AA%E3%82%B1%E3%82%A2%EF%BC%88%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%EF%BC%89\" >1. \u533b\u7642\u7684\u306a\u30b1\u30a2\uff08\u5bfe\u75c7\u7642\u6cd5\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rett-syndrome-comprehensive-guide\/#2_%E7%99%82%E8%82%B2%EF%BC%88%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\" >2. \u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rett-syndrome-comprehensive-guide\/#3_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E3%81%A8%E6%9C%AA%E6%9D%A5%E3%81%B8%E3%81%AE%E5%B8%8C%E6%9C%9B\" >3. \u6700\u65b0\u306e\u7814\u7a76\u3068\u672a\u6765\u3078\u306e\u5e0c\u671b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rett-syndrome-comprehensive-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\uff08Rett Syndrome\uff09\u306f\u3001\u4e3b\u306b\u5973\u5150\uff08\u5973\u306e\u5b50\uff09\u306b\u767a\u75c7\u3059\u308b\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>1966\u5e74\u306b\u30aa\u30fc\u30b9\u30c8\u30ea\u30a2\u306e\u5c0f\u5150\u79d1\u533b\u30a2\u30f3\u30c9\u30ec\u30a2\u30b9\u30fb\u30ec\u30c3\u30c8\u535a\u58eb\u306b\u3088\u3063\u3066\u6700\u521d\u306b\u5831\u544a\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u767a\u751f\u983b\u5ea6<\/p>\n\n\n\n<p>\u304a\u3088\u305d1\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u5973\u5150\u306b\u767a\u75c7\u3059\u308b\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u6c7a\u3057\u3066\u7a00\u306a\u6570\u5b57\u3067\u306f\u306a\u304f\u3001\u65e5\u672c\u56fd\u5185\u306b\u3082\u6570\u5343\u4eba\u306e\u60a3\u8005\u3055\u3093\u304c\u3044\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7537\u5150\u306e\u4f8b\u3082\u6975\u3081\u3066\u7a00\u3067\u3059\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u672c\u306e\u5236\u5ea6<\/p>\n\n\n\n<p>\u65e5\u672c\u3067\u306f\u56fd\u306e\u300c\u6307\u5b9a\u96e3\u75c5\u300d\u304a\u3088\u3073\u300c\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u300d\u306b\u6307\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u91cd\u75c7\u5ea6\u306b\u5fdc\u3058\u3066\u533b\u7642\u8cbb\u306e\u52a9\u6210\u3084\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c5\u6c17\u306e\u7279\u5fb4\u3092\u4e00\u8a00\u3067\u8a00\u3046\u3068<\/p>\n\n\n\n<p>\u300c\u751f\u5f8c\u3057\u3070\u3089\u304f\u306f\u9806\u8abf\u306b\u80b2\u3063\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u3082\u306e\u306e\u3001\u3042\u308b\u6642\u671f\u304b\u3089\u624b\u3084\u8a00\u8449\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u3001\u7279\u6709\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u75c5\u6c17\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u306f\u3001\u5358\u306b\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u8133\u306e\u795e\u7d4c\u56de\u8def\u306e\u6210\u719f\u304c\u72ec\u7279\u306a\u30d1\u30bf\u30fc\u30f3\u3092\u305f\u3069\u308b\u300c\u767a\u9054\u969c\u5bb3\u306e\u4e00\u7a2e\u300d\u3067\u3042\u308b\u3068\u6349\u3048\u76f4\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A4%E3%81%A4%E3%81%AE%E3%82%B9%E3%83%86%E3%83%BC%E3%82%B8%E3%81%A8%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%82%B5%E3%82%A4%E3%83%B3\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6\uff1a4\u3064\u306e\u30b9\u30c6\u30fc\u30b8\u3068\u7279\u5fb4\u7684\u306a\u30b5\u30a4\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3066\u3044\u304f\u306e\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002\u3053\u306e\u5909\u5316\u306f\u4e00\u822c\u7684\u306b\u300c4\u3064\u306e\u30b9\u30c6\u30fc\u30b8\uff08\u75c5\u671f\uff09\u300d\u306b\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u3053\u306e\u533a\u5206\u306f\u3042\u304f\u307e\u3067\u76ee\u5b89\u3067\u3042\u308a\u3001\u30b9\u30c6\u30fc\u30b8\u306e\u671f\u9593\u3084\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u3044\u3053\u3068\u3092\u899a\u3048\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AC%AC1%E6%9C%9F%EF%BC%9A%E5%81%9C%E6%BB%9E%E6%9C%9F%EF%BC%88%E7%94%9F%E5%BE%8C6%E3%83%B6%E6%9C%88%E3%80%9C1%E6%AD%B3%E5%8D%8A%E9%A0%83%EF%BC%89\"><\/span><strong>\u7b2c1\u671f\uff1a\u505c\u6ede\u671f\uff08\u751f\u5f8c6\u30f6\u6708\u301c1\u6b73\u534a\u9803\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u76f4\u5f8c\u304b\u3089\u751f\u5f8c6\u30f6\u6708\u304f\u3089\u3044\u307e\u3067\u306f\u3001\u9996\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u306a\u3069\u3082\u3067\u304d\u3001\u4e00\u898b\u9806\u8abf\u306b\u80b2\u3063\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u307e\u3059\u3002\u3054\u5bb6\u65cf\u3082\u7570\u5909\u306b\u6c17\u3065\u304b\u306a\u3044\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u30b5\u30a4\u30f3<\/p>\n\n\n\n<p>\u751f\u5f8c6\u30f6\u6708\u3092\u904e\u304e\u305f\u3042\u305f\u308a\u304b\u3089\u3001\u300c\u304a\u3082\u3061\u3083\u306b\u624b\u3092\u4f38\u3070\u3055\u306a\u304f\u306a\u3063\u305f\u300d\u300c\u8996\u7dda\u304c\u5408\u3044\u306b\u304f\u3044\u300d\u300c\u540d\u524d\u3092\u547c\u3093\u3067\u3082\u53cd\u5fdc\u304c\u8584\u3044\u300d\u3068\u3044\u3063\u305f\u69d8\u5b50\u304c\u898b\u3089\u308c\u59cb\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u904b\u52d5\u767a\u9054\uff08\u306f\u3044\u306f\u3044\u3084\u4f1d\u3044\u6b69\u304d\uff09\u306e\u9045\u308c\u304c\u76ee\u7acb\u3061\u59cb\u3081\u307e\u3059\u304c\u3001\u3053\u306e\u6642\u671f\u306f\u300c\u5c11\u3057\u306e\u3093\u3073\u308a\u5c4b\u3055\u3093\u306a\u306e\u304b\u306a\u300d\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u304b\u306a\uff1f\u300d\u3068\u601d\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u306f\u307e\u3060\u5c11\u306a\u3044\u6642\u671f\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u982d\u306e\u5927\u304d\u3055\u306e\u6210\u9577\u304c\u7de9\u3084\u304b\u306b\u306a\u308a\u3001\u8eab\u4f53\u306b\u6bd4\u3079\u3066\u982d\u56f2\u304c\u5c0f\u3055\u304f\u306a\u308b\uff08\u5f8c\u5929\u7684\u5c0f\u982d\u75c7\uff09\u50be\u5411\u304c\u898b\u3048\u59cb\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AC%AC2%E6%9C%9F%EF%BC%9A%E9%80%80%E8%A1%8C%E6%9C%9F%EF%BC%881%E6%AD%B3%E3%80%9C4%E6%AD%B3%E9%A0%83%EF%BC%89\"><\/span><strong>\u7b2c2\u671f\uff1a\u9000\u884c\u671f\uff081\u6b73\u301c4\u6b73\u9803\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3067\u6700\u3082\u5287\u7684\u306a\u5909\u5316\u304c\u8d77\u3053\u308b\u6642\u671f\u3067\u3059\u3002\u6570\u9031\u9593\u304b\u3089\u6570\u30f6\u6708\u306e\u9593\u306b\u3001\u305d\u308c\u307e\u3067\u3067\u304d\u3066\u3044\u305f\u3053\u3068\u304c\u3067\u304d\u306a\u304f\u306a\u308b\u300c\u9000\u884c\u300d\u3068\u3044\u3046\u73fe\u8c61\u304c\u8d77\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u306e\u6a5f\u80fd\u306e\u55aa\u5931<\/p>\n\n\n\n<p>\u304a\u3082\u3061\u3083\u3092\u63b4\u3093\u3060\u308a\u3001\u6307\u5148\u3067\u3064\u307e\u3093\u3060\u308a\u3059\u308b\u6a5f\u80fd\u304c\u5931\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u55aa\u5931<\/p>\n\n\n\n<p>\u300c\u30de\u30de\u300d\u300c\u30de\u30f3\u30de\u300d\u306a\u3069\u3001\u5c11\u3057\u51fa\u3066\u3044\u305f\u8a00\u8449\u304c\u6d88\u3048\u3066\u3057\u307e\u3044\u3001\u767a\u8a9e\u304c\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e38\u540c\u904b\u52d5\uff08\u3058\u3087\u3046\u3069\u3046\u3046\u3093\u3069\u3046\uff09\u306e\u51fa\u73fe<\/p>\n\n\n\n<p>\u624b\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u306e\u3068\u5165\u308c\u66ff\u308f\u308b\u3088\u3046\u306b\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u306b\u6700\u3082\u7279\u5fb4\u7684\u306a\u624b\u306e\u52d5\u304d\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u3082\u307f\u3001\u624b\u3092\u6d17\u3046\u3088\u3046\u306a\u52d5\u4f5c<\/p>\n\n\n\n<p>\u624b\u3092\u53e3\u306b\u6301\u3063\u3066\u3044\u304f\u3001\u3057\u3083\u3076\u308b<\/p>\n\n\n\n<p>\u624b\u3092\u80f8\u306e\u524d\u3067\u7d44\u3080\u3001\u53e9\u304f<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u52d5\u304d\u3092\u3001\u8d77\u304d\u3066\u3044\u308b\u9593\u3058\u3085\u3046\u7e70\u308a\u8fd4\u3059\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/p>\n\n\n\n<p>\u6b69\u884c\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u3063\u305f\u308a\u3001\u6b69\u3051\u306a\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7406\u7531\u306e\u308f\u304b\u3089\u306a\u3044\u591c\u6ce3\u304d\u3084\u3001\u6025\u306b\u53eb\u3073\u51fa\u3059\u3088\u3046\u306a\u4e0d\u6a5f\u5acc\uff08\u30b9\u30af\u30ea\u30fc\u30df\u30f3\u30b0\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u547c\u5438\u306e\u30ea\u30ba\u30e0\u304c\u4e71\u308c\u308b\uff08\u904e\u547c\u5438\u3084\u606f\u3053\u3089\u3048\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u306f\u3001\u4eca\u307e\u3067\u3067\u304d\u3066\u3044\u305f\u3053\u3068\u304c\u3067\u304d\u306a\u304f\u306a\u308b\u3053\u306e\u6642\u671f\u304c\u3001\u7cbe\u795e\u7684\u306b\u6700\u3082\u3064\u3089\u3044\u6642\u671f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u3053\u306e\u6025\u901f\u306a\u5909\u5316\u306f\u4e00\u6642\u7684\u306a\u3082\u306e\u3067\u3001\u305a\u3063\u3068\u7d9a\u304f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AC%AC3%E6%9C%9F%EF%BC%9A%E4%BB%AE%E6%80%A7%E5%AE%89%E5%AE%9A%E6%9C%9F%EF%BC%882%E6%AD%B3%E3%80%9C10%E6%AD%B3%E9%A0%83%E3%80%81%E3%81%BE%E3%81%9F%E3%81%AF%E3%81%9D%E3%82%8C%E4%BB%A5%E9%99%8D%EF%BC%89\"><\/span><strong>\u7b2c3\u671f\uff1a\u4eee\u6027\u5b89\u5b9a\u671f\uff082\u6b73\u301c10\u6b73\u9803\u3001\u307e\u305f\u306f\u305d\u308c\u4ee5\u964d\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9000\u884c\u306e\u5d50\u304c\u904e\u304e\u53bb\u308a\u3001\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u5b89\u5b9a\u3059\u308b\u6642\u671f\u3067\u3059\u3002\u3053\u306e\u6642\u671f\u306f\u6570\u5e74\u304b\u3089\u6570\u5341\u5e74\u7d9a\u304f\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u6539\u5584<\/p>\n\n\n\n<p>\u7b2c2\u671f\u3067\u898b\u3089\u308c\u305f\u81ea\u9589\u7684\u306a\u69d8\u5b50\u304c\u6d88\u3048\u3001\u5468\u56f2\u3078\u306e\u95a2\u5fc3\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u300c\u76ee\u300d\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u304c\u5411\u4e0a\u3057\u3001\u3058\u3063\u3068\u76f8\u624b\u3092\u898b\u3064\u3081\u308b\u3053\u3068\u3067\u610f\u601d\u3092\u4f1d\u3048\u3088\u3046\u3068\u3059\u308b\u59ff\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u5f37\u3044\u8996\u7dda\u306f\u300cEye Pointing\uff08\u30a2\u30a4\u30dd\u30a4\u30f3\u30c6\u30a3\u30f3\u30b0\uff09\u300d\u3068\u3082\u547c\u3070\u308c\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u306e\u65b9\u306e\u5927\u304d\u306a\u9b45\u529b\u3067\u3042\u308a\u3001\u80fd\u529b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u904b\u52d5\u6a5f\u80fd<\/p>\n\n\n\n<p>\u6b69\u3051\u308b\u304a\u5b50\u3055\u3093\u306f\u6b69\u884c\u3092\u7dad\u6301\u3067\u304d\u307e\u3059\u304c\u3001\u304e\u3053\u3061\u306a\u3055\u304c\u6b8b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u306e\u5e38\u540c\u904b\u52d5\u306f\u7d9a\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5408\u4f75\u75c7\u306e\u51fa\u73fe<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\uff1a\u8133\u306e\u96fb\u6c17\u4fe1\u53f7\u306e\u4e71\u308c\u306b\u3088\u308a\u3001\u3051\u3044\u308c\u3093\u3084\u610f\u8b58\u6d88\u5931\u306a\u3069\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u3067\u3053\u306e\u6642\u671f\u306b\u3066\u3093\u304b\u3093\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5074\u5f2f\uff08\u305d\u304f\u308f\u3093\uff09\uff1a\u80cc\u9aa8\u304c\u5de6\u53f3\u306b\u66f2\u304c\u3063\u3066\u304f\u308b\u75c7\u72b6\u3067\u3059\u3002\u7b4b\u8089\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u60aa\u3044\u305f\u3081\u306b\u8d77\u3053\u308a\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b6f\u304e\u3057\u308a\uff1a\u8d77\u304d\u3066\u3044\u308b\u6642\u306b\u5f37\u3044\u6b6f\u304e\u3057\u308a\u3092\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AC%AC4%E6%9C%9F%EF%BC%9A%E6%99%A9%E6%9C%9F%E9%81%8B%E5%8B%95%E6%A9%9F%E8%83%BD%E4%BD%8E%E4%B8%8B%E6%9C%9F%EF%BC%8810%E6%AD%B3%E4%BB%A5%E9%99%8D%E3%80%9C%E6%88%90%E4%BA%BA%E6%9C%9F%EF%BC%89\"><\/span><strong>\u7b2c4\u671f\uff1a\u6669\u671f\u904b\u52d5\u6a5f\u80fd\u4f4e\u4e0b\u671f\uff0810\u6b73\u4ee5\u964d\u301c\u6210\u4eba\u671f\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u52d5\u304d\u306e\u786c\u3055\u304c\u76ee\u7acb\u3063\u3066\u304f\u308b\u6642\u671f\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u904b\u52d5\u6a5f\u80fd\u306e\u5909\u5316<\/p>\n\n\n\n<p>\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u9ad8\u307e\u308a\uff08\u56fa\u7e2e\uff09\u3001\u95a2\u7bc0\u304c\u786c\u304f\u306a\u308b\uff08\u62d8\u7e2e\uff09\u3053\u3068\u3067\u3001\u52d5\u304f\u306e\u304c\u96e3\u3057\u304f\u306a\u308a\u307e\u3059\u3002\u4eca\u307e\u3067\u6b69\u3051\u3066\u3044\u305f\u65b9\u304c\u3001\u8eca\u6905\u5b50\u4e2d\u5fc3\u306e\u751f\u6d3b\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u624b\u306e\u5e38\u540c\u904b\u52d5\u306f\u3053\u306e\u6642\u671f\u306b\u306a\u308b\u3068\u5c11\u3057\u6e1b\u3063\u305f\u308a\u3001\u7a4f\u3084\u304b\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u30fb\u611f\u60c5\u9762<\/p>\n\n\n\n<p>\u904b\u52d5\u6a5f\u80fd\u306f\u4f4e\u4e0b\u3057\u3066\u3082\u3001\u7406\u89e3\u529b\u3084\u611f\u60c5\u306e\u8c4a\u304b\u3055\u306f\u5931\u308f\u308c\u307e\u305b\u3093\u3002\u3080\u3057\u308d\u3001\u5e74\u9f62\u3092\u91cd\u306d\u3066\u8868\u60c5\u304c\u7a4f\u3084\u304b\u306b\u306a\u308a\u3001\u5468\u56f2\u3068\u306e\u95a2\u308f\u308a\u3092\u697d\u3057\u3080\u3053\u3068\u304c\u3067\u304d\u308b\u65b9\u306f\u305f\u304f\u3055\u3093\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8a8d\u77e5\u6a5f\u80fd\u306e\u9000\u884c\u306f\u306a\u3044\u300d\u3068\u3044\u3046\u306e\u304c\u3001\u73fe\u5728\u306e\u533b\u5b66\u306e\u5b9a\u8aac\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0\"><\/span><strong>\u539f\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u306a\u305c\u3001\u3053\u306e\u3088\u3046\u306a\u5909\u5316\u304c\u8d77\u304d\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002\u539f\u56e0\u306f\u3001\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u300c\u907a\u4f1d\u5b50\u300d\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"MECP2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0\"><\/span><strong>MECP2\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306e\u7d0490%\u4ee5\u4e0a\u3067\u3001X\u67d3\u8272\u4f53\u306b\u3042\u308b\u300cMECP2\uff08\u30e1\u30c3\u30af\u30d4\u30fc\u30c4\u30fc\uff09\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>MECP2\u306e\u5f79\u5272<\/p>\n\n\n\n<p>MECP2\u907a\u4f1d\u5b50\u306f\u3001\u300cMECP2\u30bf\u30f3\u30d1\u30af\u8cea\u300d\u3068\u3044\u3046\u7269\u8cea\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306eMECP2\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u4e2d\u3067\u300c\u4ed6\u306e\u305f\u304f\u3055\u3093\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u8abf\u7bc0\u3059\u308b\uff08\u30aa\u30f3\u306b\u3057\u305f\u308a\u30aa\u30d5\u306b\u3057\u305f\u308a\u3059\u308b\uff09\u300d\u3068\u3044\u3046\u3001\u6307\u63ee\u8005\u306e\u3088\u3046\u306a\u975e\u5e38\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3067\u306f\u3001\u3053\u306e\u6307\u63ee\u8005\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u305f\u3081\u3001\u8133\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u6d3b\u52d5\u8abf\u6574\u304c\u3067\u304d\u305a\u3001\u795e\u7d4c\u56de\u8def\u306e\u6210\u719f\u3084\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u4f5c\u308a\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%EF%BC%88%E8%A6%AA%E3%81%8B%E3%82%89%E5%AD%90%E3%81%B8%E9%81%BA%E4%BC%9D%E3%81%99%E3%82%8B%E3%81%AE%E3%81%8B%EF%BC%9F%EF%BC%89\"><\/span><strong>\u907a\u4f1d\u306b\u3064\u3044\u3066\uff08\u89aa\u304b\u3089\u5b50\u3078\u907a\u4f1d\u3059\u308b\u306e\u304b\uff1f\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u975e\u5e38\u306b\u91cd\u8981\u306a\u70b9\u3067\u3059\u304c\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u306e\u307b\u3068\u3093\u3069\uff0899%\u4ee5\u4e0a\uff09\u306f\u3001\u300c\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u300d\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u3054\u4e21\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u5375\u304c\u3067\u304d\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u3067\u304d\u308b\u904e\u7a0b\u3067\u3001\u5076\u7136\u306b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u8d77\u304d\u305f\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u598a\u5a20\u4e2d\u306e\u304a\u6bcd\u3055\u3093\u306e\u884c\u52d5\u304c\u60aa\u304b\u3063\u305f\u300d\u3068\u304b\u300c\u5bb6\u7cfb\u306e\u305b\u3044\u300d\u3068\u3044\u3063\u305f\u3053\u3068\u306f\u4e00\u5207\u3042\u308a\u307e\u305b\u3093\u3002\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u3044\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u3001\u4e00\u822c\u306e\u3054\u5bb6\u5ead\u3068\u307b\u3068\u3093\u3069\u5909\u308f\u308a\u307e\u305b\u3093\uff081%\u4ee5\u4e0b\uff09\u3002<\/p>\n\n\n\n<p>\u306a\u305c\u5973\u306e\u5b50\u306b\u591a\u3044\u306e\u304b<\/p>\n\n\n\n<p>\u5973\u6027\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3063\u3066\u3044\u307e\u3059\uff08XX\uff09\u3002\u7537\u6027\u306f1\u672c\u3067\u3059\uff08XY\uff09\u3002<\/p>\n\n\n\n<p>MECP2\u907a\u4f1d\u5b50\u306fX\u67d3\u8272\u4f53\u306b\u4e57\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5973\u6027\u306e\u5834\u5408\u3001\u7247\u65b9\u306eX\u67d3\u8272\u4f53\u306eMECP2\u306b\u5909\u7570\u304c\u3042\u3063\u3066\u3082\u3001\u3082\u3046\u7247\u65b9\u306e\u6b63\u5e38\u306aX\u67d3\u8272\u4f53\u304c\u6a5f\u80fd\u3092\u88dc\u3046\u3053\u3068\u304c\u3067\u304d\u308b\u305f\u3081\u3001\u751f\u307e\u308c\u3066\u304f\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\uff08\u305f\u3060\u3057\u75c7\u72b6\u306f\u51fa\u307e\u3059\uff09\u3002<\/p>\n\n\n\n<p>\u7537\u6027\u306e\u5834\u5408\u3001X\u67d3\u8272\u4f53\u304c1\u672c\u3057\u304b\u306a\u3044\u305f\u3081\u3001MECP2\u304c\u50cd\u304b\u306a\u3044\u3068\u751f\u547d\u3092\u7dad\u6301\u3059\u308b\u3053\u3068\u304c\u96e3\u3057\u304f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u3084\u6b7b\u7523\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u60a3\u8005\u3055\u3093\u306e\u307b\u3068\u3093\u3069\u304c\u5973\u6027\u306a\u306e\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33945516_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121516\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u306e\u89b3\u5bdf\u3068\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%EF%BC%88%E7%97%87%E7%8A%B6%E3%81%AB%E3%82%88%E3%82%8B%E8%A8%BA%E6%96%AD%EF%BC%89\"><\/span><strong>1. \u81e8\u5e8a\u8a3a\u65ad\uff08\u75c7\u72b6\u306b\u3088\u308b\u8a3a\u65ad\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u56fd\u969b\u7684\u306a\u8a3a\u65ad\u57fa\u6e96\uff08Neul\u3089\u306b\u3088\u308b\u57fa\u6e96\u306a\u3069\uff09\u306b\u57fa\u3065\u304d\u3001\u533b\u5e2b\u304c\u304a\u5b50\u3055\u3093\u306e\u69d8\u5b50\u3092\u8a3a\u5bdf\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc5\u9808\u57fa\u6e96<\/p>\n\n\n\n<p>\u4eca\u307e\u3067\u3067\u304d\u3066\u3044\u305f\u624b\u306e\u6a5f\u80fd\u306e\u55aa\u5931<\/p>\n\n\n\n<p>\u8a00\u8449\uff08\u767a\u8a9e\uff09\u306e\u55aa\u5931<\/p>\n\n\n\n<p>\u6b69\u884c\u306e\u7570\u5e38\uff08\u307e\u305f\u306f\u6b69\u884c\u4e0d\u80fd\uff09<\/p>\n\n\n\n<p>\u624b\u306e\u5e38\u540c\u904b\u52d5\uff08\u624b\u3082\u307f\u306a\u3069\uff09\u306e\u51fa\u73fe<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75c7\u72b6\u306b\u52a0\u3048\u3066\u3001\u300c\u751f\u5f8c6\u30f6\u6708\u9803\u307e\u3067\u306e\u6b63\u5e38\u306a\u767a\u9054\u300d\u3084\u300c\u9000\u884c\u306e\u6642\u671f\u300d\u306a\u3069\u3092\u7dcf\u5408\u3057\u3066\u5224\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>2. \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3001DNA\u3092\u89e3\u6790\u3057\u3066MECP2\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u304b\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u5909\u7570\u304c\u898b\u3064\u304b\u308c\u3070\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u5178\u578b\u7684\u306a\u75c7\u72b6\u304c\u3042\u3063\u3066\u3082\u3001\u73fe\u5728\u306e\u691c\u67fb\u6280\u8853\u3067\u306f\u907a\u4f1d\u5b50\u5909\u7570\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u30b1\u30fc\u30b9\u3082\u6570%\u5b58\u5728\u3057\u307e\u3059\u3002\u305d\u306e\u5834\u5408\u3067\u3082\u3001\u75c7\u72b6\u304c\u57fa\u6e96\u3092\u6e80\u305f\u3057\u3066\u3044\u308c\u3070\u3001\u81e8\u5e8a\u7684\u306b\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u3001\u5fc5\u8981\u306a\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001\u907a\u4f1d\u5b50\u3092\u4fee\u5fa9\u3057\u3066\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u3092\u548c\u3089\u3052\u308b\u300c\u5bfe\u75c7\u7642\u6cd5\u300d\u3068\u3001\u80fd\u529b\u3092\u5f15\u304d\u51fa\u3059\u300c\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09\u300d\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u5927\u304d\u304f\u9ad8\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%8C%BB%E7%99%82%E7%9A%84%E3%81%AA%E3%82%B1%E3%82%A2%EF%BC%88%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%EF%BC%89\"><\/span><strong>1. \u533b\u7642\u7684\u306a\u30b1\u30a2\uff08\u5bfe\u75c7\u7642\u6cd5\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642<\/p>\n\n\n\n<p>\u8133\u6ce2\u691c\u67fb\u306e\u7d50\u679c\u306b\u5408\u308f\u305b\u3066\u3001\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002\u767a\u4f5c\u3092\u6291\u3048\u308b\u3053\u3068\u306f\u3001\u8133\u306e\u767a\u9054\u3092\u5b88\u308b\u305f\u3081\u306b\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6574\u5f62\u5916\u79d1\u7684\u306a\u7ba1\u7406\uff08\u5074\u5f2f\u75c7\uff09<\/p>\n\n\n\n<p>\u80cc\u9aa8\u306e\u66f2\u304c\u308a\u304c\u9032\u884c\u3057\u306a\u3044\u3088\u3046\u306b\u3001\u5b9a\u671f\u7684\u306b\u30ec\u30f3\u30c8\u30b2\u30f3\u3092\u64ae\u308a\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u30b3\u30eb\u30bb\u30c3\u30c8\uff08\u88c5\u5177\uff09\u3092\u4f5c\u6210\u3057\u307e\u3059\u3002\u66f2\u304c\u308a\u304c\u5f37\u304f\u3001\u5185\u81d3\u3078\u306e\u5f71\u97ff\u304c\u5fc3\u914d\u3055\u308c\u308b\u5834\u5408\u306f\u3001\u80cc\u9aa8\u3092\u307e\u3063\u3059\u3050\u306b\u3059\u308b\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u624b\u8853\u306b\u3088\u3063\u3066\u59ff\u52e2\u304c\u5b89\u5b9a\u3057\u3001\u5ea7\u308a\u3084\u3059\u304f\u306a\u308b\u65b9\u3082\u591a\u3044\u3067\u3059\u3002Getty Images<\/p>\n\n\n\n<p>\u7761\u7720\u3068\u547c\u5438\u306e\u7ba1\u7406<\/p>\n\n\n\n<p>\u7761\u7720\u969c\u5bb3\u306b\u306f\u7761\u7720\u5c0e\u5165\u5264\u3092\u4f7f\u7528\u3057\u305f\u308a\u3001\u751f\u6d3b\u30ea\u30ba\u30e0\u3092\u6574\u3048\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u547c\u5438\u306e\u4e71\u308c\u3084\u3001\u98f2\u307f\u8fbc\u307f\u306e\u60aa\u3055\u304b\u3089\u304f\u308b\u8aa4\u56a5\u6027\u80ba\u708e\uff08\u3054\u3048\u3093\u305b\u3044\u306f\u3044\u3048\u3093\uff09\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6804\u990a\u7ba1\u7406<\/p>\n\n\n\n<p>\u3046\u307e\u304f\u565b\u3081\u306a\u3044\u3001\u98f2\u307f\u8fbc\u3081\u306a\u3044\uff08\u56a5\u4e0b\u969c\u5bb3\uff09\u304c\u3042\u308b\u5834\u5408\u3001\u98df\u4e8b\u306e\u5f62\u614b\u3092\u5de5\u592b\u3057\u305f\u308a\u3001\u3068\u308d\u307f\u3092\u3064\u3051\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5341\u5206\u306a\u6804\u990a\u304c\u53e3\u304b\u3089\u6442\u308c\u306a\u3044\u5834\u5408\u3084\u3001\u8aa4\u56a5\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u5834\u5408\u306f\u3001\u304a\u8179\u306b\u5c0f\u3055\u306a\u7a74\u3092\u958b\u3051\u3066\u76f4\u63a5\u6804\u990a\u3092\u5165\u308c\u308b\u300c\u80c3\u308d\u3046\uff08PEG\uff09\u300d\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u80c3\u308d\u3046\u306f\u300c\u98df\u3079\u308b\u697d\u3057\u307f\u3092\u596a\u3046\u3082\u306e\u300d\u3067\u306f\u306a\u304f\u3001\u300c\u4f53\u529b\u3092\u3064\u3051\u3001\u4f53\u8abf\u3092\u5b89\u5b9a\u3055\u305b\u3001\u5b89\u5168\u306b\u53e3\u304b\u3089\u98df\u3079\u308b\u7df4\u7fd2\u3092\u7d9a\u3051\u308b\u305f\u3081\u306e\u571f\u53f0\u300d\u3068\u3057\u3066\u9078\u629e\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%99%82%E8%82%B2%EF%BC%88%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\"><\/span><strong>2. \u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09<\/p>\n\n\n\n<p>\u95a2\u7bc0\u304c\u786c\u304f\u306a\u308b\u306e\u3092\u9632\u3050\u30b9\u30c8\u30ec\u30c3\u30c1\u3001\u7acb\u3064\u7df4\u7fd2\u3001\u6b69\u884c\u8a13\u7df4\u306a\u3069\u3092\u884c\u3044\u3001\u8eab\u4f53\u6a5f\u80fd\u3092\u7dad\u6301\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09<\/p>\n\n\n\n<p>\u624b\u306e\u5e38\u540c\u904b\u52d5\u306f\u610f\u601d\u3067\u6b62\u3081\u3089\u308c\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u8098\u3092\u56fa\u5b9a\u3059\u308b\u88c5\u5177\u3092\u4f7f\u3063\u305f\u308a\u3001\u611f\u899a\u904a\u3073\u3092\u53d6\u308a\u5165\u308c\u305f\u308a\u3057\u3066\u3001\u624b\u306e\u4f7f\u3044\u65b9\u3084\u30ea\u30e9\u30c3\u30af\u30b9\u65b9\u6cd5\u3092\u63a2\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3<\/p>\n\n\n\n<p>\u3053\u3053\u304c\u6700\u3082\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u304c\u51fa\u306a\u304f\u3066\u3082\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u306e\u65b9\u306f\u300c\u308f\u304b\u3063\u3066\u300d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8996\u7dda\u5165\u529b\u88c5\u7f6e\uff08\u30a2\u30a4\u30c8\u30e9\u30c3\u30ab\u30fc\uff09\uff1a\u76ee\u306e\u52d5\u304d\u3067\u30d1\u30bd\u30b3\u30f3\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u3092\u64cd\u4f5c\u3059\u308b\u6280\u8853\u3067\u3059\u3002\u624b\u3092\u4f7f\u3048\u306a\u304f\u3066\u3082\u3001\u753b\u9762\u4e0a\u306e\u6587\u5b57\u3084\u30a4\u30e9\u30b9\u30c8\u3092\u898b\u308b\u3060\u3051\u3067\u3001\u81ea\u5206\u306e\u6c17\u6301\u3061\u3092\u4f1d\u3048\u305f\u308a\u3001\u30b2\u30fc\u30e0\u3092\u3057\u305f\u308a\u3001\u7d75\u3092\u63cf\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u6280\u8853\u306e\u5c0e\u5165\u306b\u3088\u308a\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u300c\u304a\u8179\u3059\u3044\u305f\u300d\u300c\u904a\u3073\u305f\u3044\u300d\u300c\u3053\u308c\u304c\u597d\u304d\u300d\u3068\u3044\u3063\u305f\u610f\u601d\u8868\u793a\u3092\u660e\u78ba\u306b\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u3001\u3054\u5bb6\u65cf\u3068\u306e\u7d46\u304c\u6df1\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E3%81%A8%E6%9C%AA%E6%9D%A5%E3%81%B8%E3%81%AE%E5%B8%8C%E6%9C%9B\"><\/span><strong>3. \u6700\u65b0\u306e\u7814\u7a76\u3068\u672a\u6765\u3078\u306e\u5e0c\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u4e16\u754c\u4e2d\u3067MECP2\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3092\u56de\u5fa9\u3055\u305b\u308b\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u3001\u75c7\u72b6\u3092\u6539\u5584\u3059\u308b\u65b0\u85ac\uff08\u30c8\u30ed\u30d5\u30a3\u30cd\u30c1\u30c9\u306a\u3069\uff09\u306e\u7814\u7a76\u30fb\u958b\u767a\u304c\u7cbe\u529b\u7684\u306b\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u90e8\u306e\u56fd\u3067\u306f\u627f\u8a8d\u3055\u308c\u305f\u85ac\u3082\u51fa\u3066\u304d\u3066\u304a\u308a\u3001\u65e5\u672c\u3067\u3082\u6cbb\u9a13\u3084\u627f\u8a8d\u306b\u5411\u3051\u305f\u52d5\u304d\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u533b\u5b66\u306f\u65e5\u3005\u9032\u6b69\u3057\u3066\u304a\u308a\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u306e\u9078\u629e\u80a2\u306f\u78ba\u5b9f\u306b\u5e83\u304c\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rett-syndrome-comprehensive-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116348,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122446","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122446","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122446"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122446\/revisions"}],"predecessor-version":[{"id":126363,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122446\/revisions\/126363"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116348"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122446"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122446"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122446"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}