{"id":122843,"date":"2026-01-15T11:22:45","date_gmt":"2026-01-15T02:22:45","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122843"},"modified":"2026-03-27T16:58:00","modified_gmt":"2026-03-27T07:58:00","slug":"coffin-lowry-syndrome-rps6ka3-symptoms-diagnosis-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-lowry-syndrome-rps6ka3-symptoms-diagnosis-guide\/","title":{"rendered":"Coffin-Lowry Syndrome"},"content":{"rendered":"\n<p>\u5c0f\u5150\u795e\u7d4c\u75be\u60a3\u304a\u3088\u3073\u907a\u4f1d\u5b66\u306e\u9818\u57df\u306b\u304a\u3044\u3066\u3001\u300cCoffin-Lowry Syndrome\uff08CLS\uff09\u300d\u306f\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u3068\u795e\u7d4c\u767a\u9054\u306e\u554f\u984c\u304c\u8907\u96d1\u306b\u7d61\u307f\u5408\u3046\u5e0c\u5c11\u75be\u60a3\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u30021966\u5e74\u306bCoffin\u30011971\u5e74\u306bLowry\u3089\u306b\u3088\u3063\u3066\u72ec\u7acb\u3057\u3066\u5831\u544a\u3055\u308c\u305f\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u73fe\u5728\u3067\u306f\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u306a\u539f\u56e0\u304c\u89e3\u660e\u3055\u308c\u3066\u304a\u308a\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u4ecb\u5165\u304c\u60a3\u8005\u306eQOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u5de6\u53f3\u3059\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001RPS6KA3\u907a\u4f1d\u5b50\u5909\u7570\u304c\u3082\u305f\u3089\u3059\u75c5\u614b\u751f\u7406\u304b\u3089\u3001CLS\u7279\u6709\u306e\u81e8\u5e8a\u7684\u5fb4\u5019\u3001\u305d\u3057\u3066\u65e5\u5e38\u751f\u6d3b\u306b\u304a\u3044\u3066\u7279\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u300c\u30c9\u30ed\u30c3\u30d7\u30a2\u30bf\u30c3\u30af\u300d\u3078\u306e\u5bfe\u51e6\u6cd5\u307e\u3067\u3001\u5c02\u9580\u7684\u306a\u77e5\u898b\u306b\u57fa\u3065\u304d\u7db2\u7f85\u7684\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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>\u795e\u7d4c\u30fb\u7cbe\u795e\u79d1\u7684\u30a2\u30d7\u30ed\u30fc\u30c1<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-lowry-syndrome-rps6ka3-symptoms-diagnosis-guide\/#%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E3%81%8A%E3%82%88%E3%81%B3%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\" >\u6574\u5f62\u5916\u79d1\u304a\u3088\u3073\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/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\/coffin-lowry-syndrome-rps6ka3-symptoms-diagnosis-guide\/#%E6%95%99%E8%82%B2%E7%9A%84%E6%94%AF%E6%8F%B4%E3%81%A8%E3%82%B3%E3%83%9F%E3%83%A5%E3%83%8B%E3%82%B1%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\" >\u6559\u80b2\u7684\u652f\u63f4\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-lowry-syndrome-rps6ka3-symptoms-diagnosis-guide\/#5_%E4%BA%88%E5%BE%8C%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%EF%BC%88QOL%EF%BC%89%E3%81%AE%E7%B6%AD%E6%8C%81\" >5. \u4e88\u5f8c\u3068\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306e\u7dad\u6301<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-lowry-syndrome-rps6ka3-symptoms-diagnosis-guide\/#%E5%AE%89%E5%85%A8%E3%81%AA%E7%92%B0%E5%A2%83%E3%81%A5%E3%81%8F%E3%82%8A\" >\u5b89\u5168\u306a\u74b0\u5883\u3065\u304f\u308a<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-lowry-syndrome-rps6ka3-symptoms-diagnosis-guide\/#%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-lowry-syndrome-rps6ka3-symptoms-diagnosis-guide\/#%E7%B5%90%E8%AB%96%EF%BC%9A%E7%90%86%E8%A7%A3%E3%81%A8%E5%85%B1%E7%94%9F%E3%81%B8%E3%81%AE%E9%81%93\" >\u7d50\u8ad6\uff1a\u7406\u89e3\u3068\u5171\u751f\u3078\u306e\u9053<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%81%BA%E4%BC%9D%E7%90%86%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9ARPS6KA3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E7%B4%B0%E8%83%9E%E5%86%85%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E4%BC%9D%E9%81%94\"><\/span><strong>1. \u907a\u4f1d\u7406\u5b66\u7684\u80cc\u666f\uff1aRPS6KA3\u907a\u4f1d\u5b50\u3068\u7d30\u80de\u5185\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLS\u306e\u75c5\u56e0\u306f\u3001X\u67d3\u8272\u4f53\uff08Xp22.12\uff09\u4e0a\u306b\u4f4d\u7f6e\u3059\u308b<strong>RPS6KA3\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u306e\u6210\u9577\u56e0\u5b50\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u300cRSK2\uff08Ribosomal S6 Kinase 2\uff09\u300d\u3068\u3044\u3046\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E4%BC%9D%E9%81%94%E3%81%AE%E9%9A%9C%E5%AE%B3%E3%81%A8%E8%84%B3%E3%83%BB%E9%AA%A8%E6%A0%BC%E5%BD%A2%E6%88%90\"><\/span><strong>\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u969c\u5bb3\u3068\u8133\u30fb\u9aa8\u683c\u5f62\u6210<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>RSK2\u306f\u3001\u7d30\u80de\u306e\u5897\u6b96\u3001\u751f\u5b58\u3001\u305d\u3057\u3066\u795e\u7d4c\u7d30\u80de\u306e\u53ef\u5851\u6027\u306b\u95a2\u308f\u308b\u8ee2\u5199\u56e0\u5b50\u306e\u6d3b\u6027\u5316\u3092\u5236\u5fa1\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u7cfb\u3078\u306e\u5f71\u97ff:<\/strong> \u795e\u7d4c\u7d30\u80de\u306e\u5206\u5316\u3084\u30b7\u30ca\u30d7\u30b9\u306e\u5f62\u6210\u306bRSK2\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u305d\u306e\u6b20\u640d\u306f\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u767a\u9054\u9045\u6ede\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7cfb\u3078\u306e\u5f71\u97ff:<\/strong> \u9aa8\u82bd\u7d30\u80de\u306e\u5206\u5316\u3092\u5236\u5fa1\u3059\u308bATF4\u306a\u3069\u306e\u56e0\u5b50\u3068\u3082\u76f8\u4e92\u4f5c\u7528\u3059\u308b\u305f\u3081\u3001CLS\u7279\u6709\u306e\u9aa8\u683c\u7570\u5e38\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E3%83%A9%E3%82%A4%E3%82%AA%E3%83%8B%E3%82%BC%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f\u3068\u30e9\u30a4\u30aa\u30cb\u30bc\u30fc\u30b7\u30e7\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u75c7\u306fX\u9023\u9396\u907a\u4f1d\uff08X-linked\uff09\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7537\u6027\u60a3\u8005:<\/strong> \u901a\u5e38\u3001\u91cd\u75c7\u306e\u81e8\u5e8a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5973\u6027\u30ad\u30e3\u30ea\u30a2:<\/strong> X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u5316\uff08\u30e9\u30a4\u30aa\u30cb\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u306e\u5f71\u97ff\u306b\u3088\u308a\u3001\u7121\u75c7\u72b6\u304b\u3089\u7537\u6027\u60a3\u8005\u306b\u8fd1\u3044\u91cd\u5ea6\u306e\u75c7\u72b6\u307e\u3067\u3001\u8868\u73fe\u578b\u304c\u6975\u3081\u3066\u591a\u69d8\u3067\u3059\u3002\u7d0470%\u304b\u308980%\u306e\u75c7\u4f8b\u306f\u5bb6\u65cf\u6b74\u306e\u306a\u3044\u7a81\u7136\u5909\u7570\uff08de novo mutation\uff09\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E5%A4%96%E8%A6%8B%E7%9A%84%E5%BE%B4%E5%80%99%E3%81%A8%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%97%87%E7%8A%B6\"><\/span><strong>2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u5916\u898b\u7684\u5fb4\u5019\u3068\u795e\u7d4c\u5b66\u7684\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLS\u306e\u8a3a\u65ad\u3092\u5c0e\u304f\u305f\u3081\u306e\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u5fb4\u5019\u306f\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u9855\u8457\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%94%E8%B2%8C%E3%81%8A%E3%82%88%E3%81%B3%E9%A0%AD%E9%83%A8%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u9854\u8c8c\u304a\u3088\u3073\u982d\u90e8\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c:<\/strong> \u524d\u982d\u90e8\u306e\u7a81\u51fa\u3001\u773c\u7aa9\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u5916\u773c\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff09\u3001\u539a\u3044\u5507\u3001\u5927\u304d\u306a\u8033\u306a\u3069\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u8154:<\/strong> \u9ad8\u53e3\u84cb\u3084\u6b6f\u306e\u6b20\u640d\u3001\u6b6f\u5217\u4e0d\u6b63\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%AA%A8%E6%A0%BC%E3%83%BB%E5%9B%9B%E8%82%A2%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>\u9aa8\u683c\u30fb\u56db\u80a2\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30c6\u30fc\u30d1\u30ea\u30f3\u30b0\u6307\uff08Tapering fingers\uff09:<\/strong> \u624b\u6307\u306e\u4ed8\u3051\u6839\u304c\u592a\u304f\u3001\u6307\u5148\u306b\u5411\u304b\u3063\u3066\u7d30\u304f\u306a\u308b\u7279\u6709\u306e\u5f62\u72b6\u3092\u793a\u3057\u307e\u3059\u3002X\u7dda\u3067\u306f\u672b\u7bc0\u9aa8\u306e\u51dd\u96c6\uff08Tufting\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80f8\u90ed\u30fb\u810a\u67f1:<\/strong> \u6f0f\u6597\u80f8\u3084\u9ce9\u80f8\u3001\u810a\u67f1\u5074\u5f2f\u75c7\u30fb\u5f8c\u5f2f\u75c7\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577:<\/strong> \u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u3092\u4f34\u3046\u3053\u3068\u306f\u7a00\u3067\u3059\u304c\u3001\u5168\u822c\u7684\u306a\u6210\u9577\u9045\u6ede\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%97%87%E7%8A%B6%E3%81%A8%E3%80%8C%E3%83%89%E3%83%AD%E3%83%83%E3%83%97%E3%82%A2%E3%82%BF%E3%83%83%E3%82%AF%E3%80%8D\"><\/span><strong>\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u3068\u300c\u30c9\u30ed\u30c3\u30d7\u30a2\u30bf\u30c3\u30af\u300d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CLS\u60a3\u8005\u306b\u304a\u3044\u3066\u6700\u3082\u6ce8\u610f\u3059\u3079\u304d\u75c7\u72b6\u306e\u4e00\u3064\u304c\u3001\u523a\u6fc0\u8a98\u767a\u6027\u30c9\u30ed\u30c3\u30d7\u30a2\u30bf\u30c3\u30af\uff08Stimulus-Induced Drop Attacks: SIDAs\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a5f\u5e8f:<\/strong> \u4e88\u671f\u305b\u306c\u5927\u304d\u306a\u97f3\u3084\u3001\u611f\u60c5\u306e\u9ad8\u3076\u308a\uff08\u9a5a\u304d\u3084\u7b11\u3044\uff09\u306b\u8a98\u767a\u3055\u308c\u3001\u610f\u8b58\u3092\u5931\u308f\u305a\u306b\u819d\u304b\u3089\u5d29\u308c\u843d\u3061\u305f\u308a\u3001\u8ee2\u5012\u3057\u305f\u308a\u3059\u308b\u865a\u8131\u767a\u4f5c\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30b9\u30af:<\/strong> \u7a81\u7136\u306e\u8ee2\u5012\u306b\u3088\u308b\u982d\u90e8\u5916\u50b7\u3084\u9aa8\u6298\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u5b89\u5168\u78ba\u4fdd\u306b\u304a\u3044\u3066\u6700\u5927\u306e\u8ab2\u984c\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\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\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\"><\/span><strong>3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u9451\u5225\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u81e8\u5e8a\u75c7\u72b6\u306e\u8a55\u4fa1\u304b\u3089\u59cb\u307e\u308a\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E5%9F%BA%E6%BA%96\"><\/span><strong>\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u7537\u6027\u306b\u304a\u3051\u308b\u4e2d\u7b49\u5ea6\uff5e\u91cd\u5ea6\u306e\u77e5\u7684\u767a\u9054\u9045\u6ede\u3002<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3068\u30c6\u30fc\u30d1\u30ea\u30f3\u30b0\u6307\u3002<\/li>\n\n\n\n<li>\u9032\u884c\u6027\u306e\u9aa8\u683c\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u523a\u6fc0\u8a98\u767a\u6027\u30c9\u30ed\u30c3\u30d7\u30a2\u30bf\u30c3\u30af\u306e\u65e2\u5f80\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>RPS6KA3\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u3002\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u89e3\u6790\u306b\u3088\u308a\u3001\u591a\u304f\u306e\u75c7\u4f8b\u3067\u5207\u65ad\u578b\u5909\u7570\u3084\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u304c\u7279\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\"><\/span><strong>\u9451\u5225\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>:<\/strong> \u77e5\u7684\u767a\u9054\u9045\u6ede\u3084\u9854\u8c8c\u306b\u985e\u4f3c\u70b9\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5fc3\u8840\u7ba1\u75be\u60a3\uff08\u5927\u52d5\u8108\u5f01\u4e0a\u72ed\u7a84\uff09\u306e\u6709\u7121\u3084\u907a\u4f1d\u5b50\u6b20\u5931\u90e8\u4f4d\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30d4\u30c3\u30c8\u30fb\u30db\u30d7\u30ad\u30f3\u30b9\u75c7\u5019\u7fa4:<\/strong> \u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3068\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3092\u5448\u3057\u307e\u3059\u304c\u3001TCF4\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8106\u5f31X\u75c7\u5019\u7fa4:<\/strong> \u7537\u6027\u306b\u304a\u3051\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u4e3b\u8981\u539f\u56e0\u3067\u3059\u304c\u3001CLS\u7279\u6709\u306e\u9aa8\u683c\u7570\u5e38\u3084\u30c9\u30ed\u30c3\u30d7\u30a2\u30bf\u30c3\u30af\u306f\u898b\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\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\/2025\/11\/28599780_s-3.webp\" alt=\"\u533b\u8005\" class=\"wp-image-120144\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%A4%9A%E8%81%B7%E7%A8%AE%E9%80%A3%E6%90%BA%E3%81%AB%E3%82%88%E3%82%8B%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E6%88%A6%E7%95%A5\"><\/span><strong>4. \u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u7ba1\u7406\u3068\u6cbb\u7642\u6226\u7565<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u3001CLS\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u500b\u3005\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u591a\u8077\u7a2e\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b1\u30a2\uff08Multidisciplinary care\uff09\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E3%83%BB%E7%B2%BE%E7%A5%9E%E7%A7%91%E7%9A%84%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>\u795e\u7d4c\u30fb\u7cbe\u795e\u79d1\u7684\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30c9\u30ed\u30c3\u30d7\u30a2\u30bf\u30c3\u30af\uff08SIDAs\uff09\u306e\u7ba1\u7406:<\/strong> \u30d0\u30eb\u30d7\u30ed\u9178\u3084\u30af\u30ed\u30ca\u30bc\u30d1\u30e0\u306a\u3069\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u3001\u3042\u308b\u3044\u306f\u9078\u629e\u7684\u30bb\u30ed\u30c8\u30cb\u30f3\u518d\u53d6\u308a\u8fbc\u307f\u963b\u5bb3\u85ac\uff08SSRI\uff09\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u652f\u63f4:<\/strong> \u591a\u52d5\u3084\u4e0d\u5b89\u3001\u7761\u7720\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u74b0\u5883\u8abf\u6574\u3084\u85ac\u7269\u7642\u6cd5\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E3%81%8A%E3%82%88%E3%81%B3%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\"><\/span><strong>\u6574\u5f62\u5916\u79d1\u304a\u3088\u3073\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u810a\u67f1\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong> \u9032\u884c\u6027\u306e\u5074\u5f2f\u306f\u547c\u5438\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u3068\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u88c5\u5177\u30fb\u624b\u8853\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7b4b\u7dca\u5f35\uff09\u306b\u5bfe\u3059\u308b\u904b\u52d5\u6a5f\u80fd\u306e\u7dad\u6301\u3084\u3001\u624b\u6307\u306e\u5de7\u7dfb\u6027\u3092\u9ad8\u3081\u308b\u8a13\u7df4\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%99%E8%82%B2%E7%9A%84%E6%94%AF%E6%8F%B4%E3%81%A8%E3%82%B3%E3%83%9F%E3%83%A5%E3%83%8B%E3%82%B1%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span><strong>\u6559\u80b2\u7684\u652f\u63f4\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u77e5\u7684\u767a\u9054\u306e\u30ec\u30d9\u30eb\u306b\u5408\u308f\u305b\u305f\u500b\u5225\u306e\u6307\u5c0e\u8a08\u753b\uff08IEP\uff09\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3:<\/strong> \u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u3092\u7528\u3044\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%BA%88%E5%BE%8C%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%EF%BC%88QOL%EF%BC%89%E3%81%AE%E7%B6%AD%E6%8C%81\"><\/span><strong>5. \u4e88\u5f8c\u3068\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306e\u7dad\u6301<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLS\u60a3\u8005\u306e\u4e88\u5f8c\u306f\u5408\u4f75\u75c7\u306e\u7a0b\u5ea6\u3001\u7279\u306b\u810a\u67f1\u5909\u5f62\u3084\u547c\u5438\u5668\u611f\u67d3\u75c7\u3001\u5fc3\u7b4b\u75c7\uff08\u7a00\u306b\u5831\u544a\u3055\u308c\u308b\uff09\u306e\u6709\u7121\u306b\u4f9d\u5b58\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%89%E5%85%A8%E3%81%AA%E7%92%B0%E5%A2%83%E3%81%A5%E3%81%8F%E3%82%8A\"><\/span><strong>\u5b89\u5168\u306a\u74b0\u5883\u3065\u304f\u308a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30c9\u30ed\u30c3\u30d7\u30a2\u30bf\u30c3\u30af\u306b\u3088\u308b\u602a\u6211\u3092\u9632\u3050\u305f\u3081\u3001\u5bb6\u5ead\u3084\u5b66\u6821\u3067\u306f\u5e8a\u306b\u30de\u30c3\u30c8\u3092\u6577\u304f\u3001\u89d2\u3092\u4fdd\u8b77\u3059\u308b\u3001\u72b6\u6cc1\u306b\u5fdc\u3058\u3066\u30d8\u30c3\u30c9\u30ae\u30a2\u3092\u7740\u7528\u3059\u308b\u306a\u3069\u306e\u74b0\u5883\u6574\u5099\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u306e\u5b50\u3069\u3082\u3092\u80b2\u3066\u308b\u5bb6\u65cf\u306e\u5fc3\u7406\u7684\u30fb\u7d4c\u6e08\u7684\u8ca0\u62c5\u306f\u751a\u5927\u3067\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u3001\u75be\u60a3\u306e\u7406\u89e3\u3092\u6df1\u3081\u308b\u3068\u3068\u3082\u306b\u3001\u540c\u3058\u5883\u9047\u306e\u5bb6\u65cf\u4f1a\uff08CLS Foundation\u306a\u3069\uff09\u3068\u306e\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u69cb\u7bc9\u3092\u652f\u63f4\u3059\u308b\u3053\u3068\u304c\u3001\u9577\u671f\u7684\u306a\u7642\u990a\u751f\u6d3b\u306b\u304a\u3044\u3066\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96%EF%BC%9A%E7%90%86%E8%A7%A3%E3%81%A8%E5%85%B1%E7%94%9F%E3%81%B8%E3%81%AE%E9%81%93\"><\/span><strong>\u7d50\u8ad6\uff1a\u7406\u89e3\u3068\u5171\u751f\u3078\u306e\u9053<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Coffin-Lowry Syndrome\u306f\u3001\u8eab\u4f53\u7684\u30fb\u795e\u7d4c\u5b66\u7684\u306a\u8907\u96d1\u3055\u3092\u62b1\u3048\u308b\u75be\u60a3\u3067\u3059\u304c\u3001\u65e9\u671f\u304b\u3089\u306e\u9069\u5207\u306a\u533b\u7642\u4ecb\u5165\u3068\u3001\u500b\u6027\u3092\u5c0a\u91cd\u3057\u305f\u6559\u80b2\u652f\u63f4\u306b\u3088\u3063\u3066\u3001\u60a3\u8005\u3055\u3093\u306f\u8c4a\u304b\u306a\u611f\u60c5\u3092\u80b2\u307f\u3001\u793e\u4f1a\u306e\u4e00\u54e1\u3068\u3057\u3066\u904e\u3054\u3059\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u30c9\u30ed\u30c3\u30d7\u30a2\u30bf\u30c3\u30af\u300d\u3068\u3044\u3046\u7279\u6709\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u3082\u3001\u5468\u56f2\u306e\u7406\u89e3\u3068\u74b0\u5883\u8abf\u6574\u304c\u3042\u308c\u3070\u3001\u30ea\u30b9\u30af\u3092\u6700\u5c0f\u9650\u306b\u6291\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002CLS\u3092\u6301\u3064\u65b9\u3005\u304c\u3001\u305d\u306e\u660e\u308b\u3044\u6027\u683c\u3084\u500b\u6027\u3092\u6d3b\u304b\u3057\u3066\u5b89\u5fc3\u3057\u3066\u751f\u6d3b\u3067\u304d\u308b\u793e\u4f1a\u3092\u76ee\u6307\u3057\u3001\u6700\u65b0\u306e\u533b\u7642\u60c5\u5831\u3092\u30a2\u30c3\u30d7\u30c7\u30fc\u30c8\u3057\u7d9a\u3051\u308b\u3053\u3068\u304c\u91cd\u8981\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","protected":false},"excerpt":{"rendered":"\u5c0f\u5150\u795e\u7d4c\u75be\u60a3\u304a\u3088\u3073\u907a\u4f1d\u5b66\u306e\u9818\u57df\u306b\u304a\u3044\u3066\u3001&#8230;\n <a 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