{"id":111686,"date":"2025-07-18T14:18:08","date_gmt":"2025-07-18T05:18:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/"},"modified":"2025-08-22T12:05:37","modified_gmt":"2025-08-22T03:05:37","slug":"gaba-autism-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans","title":{"rendered":"\u81ea\u95ed\u8c31\u7cfb\u969c\u788d\u7684\u79d1\u5b66\uff1aGABA\u6781\u6027\u8f6c\u6362\u4e0e\u53d1\u80b2\u969c\u788d\u7684\u8054\u7cfb"},"content":{"rendered":"\n<p class=\"has-text-align-center\">\u795e\u7ecf\u4f20\u9012\u7684\u5fae\u5c0f\u53d8\u5316\u4e3a\u4f55\u4f1a\u5f71\u54cd\u53d1\u80b2\u7684\u65b9\u5f0f<\/p>\n\n\n\n<div style=\"border: 4px solid #80c1ea; background-color: #f8fcff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.04);\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E7%AE%80%E6%98%8E%E6%80%BB%E7%BB%93\" >\u7b80\u660e\u603b\u7ed3<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E6%A6%82%E8%A6%81%EF%BD%9COverview\" >\u6982\u8981\uff5cOverview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E9%81%97%E4%BC%A0%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F%EF%BD%9CImplicated_Genomic_Region\" >\u9057\u4f20\u57fa\u56e0\u533a\u57df\uff5cImplicated Genomic Region<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0%EF%BD%9CDisorder\" >\u75be\u75c5\u540d\u79f0\uff5cDisorder<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6%EF%BD%9CEpidemiology\" >\u6d41\u884c\u75c5\u5b66\uff5cEpidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E7%97%85%E5%9B%A0%EF%BD%9CEtiology\" >\u75c5\u56e0\uff5cEtiology<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#1_%E6%B0%AF%E7%A6%BB%E5%AD%90%E8%BD%AC%E8%BF%90%E4%BD%93%E5%A4%B1%E8%A1%A1%E4%B8%8EGABA%E6%9E%81%E6%80%A7%E8%BD%AC%E6%8D%A2%E5%A4%B1%E8%B4%A5\" >1. \u6c2f\u79bb\u5b50\u8f6c\u8fd0\u4f53\u5931\u8861\u4e0eGABA\u6781\u6027\u8f6c\u6362\u5931\u8d25<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#2_GABA%E9%80%9A%E8%B7%AF%E4%B8%8EmTOR%E9%80%9A%E8%B7%AF%E7%9A%84%E9%81%97%E4%BC%A0%E5%8F%8A%E5%88%86%E5%AD%90%E5%BC%82%E5%B8%B8\" >2. GABA\u901a\u8def\u4e0emTOR\u901a\u8def\u7684\u9057\u4f20\u53ca\u5206\u5b50\u5f02\u5e38<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6%EF%BD%9CSymptoms\" >\u75c7\u72b6\uff5cSymptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E4%B8%BB%E8%A6%81%E8%A1%8C%E4%B8%BA%E7%89%B9%E5%BE%81\" >\u4e3b\u8981\u884c\u4e3a\u7279\u5f81<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E7%A5%9E%E7%BB%8F%E5%AD%A6%E5%85%B1%E7%97%85\" >\u795e\u7ecf\u5b66\u5171\u75c5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E7%A5%9E%E7%BB%8F%E7%94%9F%E7%90%86%E7%89%B9%E5%BE%81\" >\u795e\u7ecf\u751f\u7406\u7279\u5f81<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E6%80%A7%E5%88%AB%E5%8F%8A%E8%84%91%E5%8C%BA%E5%B7%AE%E5%BC%82\" >\u6027\u522b\u53ca\u8111\u533a\u5dee\u5f02<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E6%A3%80%E6%9F%A5%E4%B8%8E%E8%AF%8A%E6%96%AD%EF%BD%9CTesting_Diagnosis\" >\u68c0\u67e5\u4e0e\u8bca\u65ad\uff5cTesting &amp; Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E8%84%91%E5%BD%B1%E5%83%8F%E4%B8%8E%E7%A5%9E%E7%BB%8F%E7%94%9F%E7%90%86%E6%A0%87%E5%BF%97%E7%89%A9\" >\u8111\u5f71\u50cf\u4e0e\u795e\u7ecf\u751f\u7406\u6807\u5fd7\u7269<\/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\/gaba-autism-overview\/?lang=zh-hans\/#%E8%A7%A3%E5%89%96%E5%AD%A6%E4%B8%8E%E9%81%97%E4%BC%A0%E5%AD%A6%E5%8F%91%E7%8E%B0\" >\u89e3\u5256\u5b66\u4e0e\u9057\u4f20\u5b66\u53d1\u73b0<\/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\/gaba-autism-overview\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86%EF%BD%9CTreatment_Management\" >\u6cbb\u7597\u4e0e\u7ba1\u7406\uff5cTreatment &amp; Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#1_%E9%92%88%E5%AF%B9%E6%B0%AF%E7%A6%BB%E5%AD%90%E8%BD%AC%E8%BF%90%E4%BD%93%E7%9A%84%E6%B2%BB%E7%96%97\" >1. \u9488\u5bf9\u6c2f\u79bb\u5b50\u8f6c\u8fd0\u4f53\u7684\u6cbb\u7597<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#2_%E8%B0%83%E8%8A%82GABA%E5%8F%97%E4%BD%93%E7%9A%84%E8%8D%AF%E7%89%A9\" >2. \u8c03\u8282GABA\u53d7\u4f53\u7684\u836f\u7269<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#3_%E9%92%88%E5%AF%B9%E5%88%86%E5%AD%90%E9%80%9A%E8%B7%AF%E7%9A%84%E6%B2%BB%E7%96%97\" >3. \u9488\u5bf9\u5206\u5b50\u901a\u8def\u7684\u6cbb\u7597<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#4_%E5%9F%BA%E5%9B%A0%E4%B8%8E%E7%BB%86%E8%83%9E%E6%B2%BB%E7%96%97\" >4. \u57fa\u56e0\u4e0e\u7ec6\u80de\u6cbb\u7597<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#5_%E9%9D%9E%E8%8D%AF%E7%89%A9%E5%B9%B2%E9%A2%84\" >5. \u975e\u836f\u7269\u5e72\u9884<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E%EF%BD%9CPrognosis\" >\u9884\u540e\uff5cPrognosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E6%9C%89%E5%88%A9%E5%9B%A0%E7%B4%A0\" >\u6709\u5229\u56e0\u7d20<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E6%8C%81%E7%BB%AD%E5%9B%B0%E9%9A%BE%E7%9A%84%E9%A3%8E%E9%99%A9%E5%9B%A0%E7%B4%A0\" >\u6301\u7eed\u56f0\u96be\u7684\u98ce\u9669\u56e0\u7d20<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E7%A5%9E%E7%BB%8F%E5%8F%AF%E5%A1%91%E6%80%A7%E4%B8%8E%E8%A1%A5%E5%81%BF%E5%8A%9B\" >\u795e\u7ecf\u53ef\u5851\u6027\u4e0e\u8865\u507f\u529b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E7%BB%93%E8%AE%BA%EF%BD%9CConclusion\" >\u7ed3\u8bba\uff5cConclusion<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u53c2\u8003\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gaba-autism-overview\/?lang=zh-hans\/#%E6%9C%AF%E8%AF%AD%E8%A7%A3%E9%87%8A%EF%BD%9CHelpful_Terms\" >\u672f\u8bed\u89e3\u91ca\uff5cHelpful Terms<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #2a79b8; text-align: left; border-bottom: 2px solid #a6cbdc; padding-bottom: 0.25rem;\"><span class=\"ez-toc-section\" id=\"%E7%AE%80%E6%98%8E%E6%80%BB%E7%BB%93\"><\/span>\n  \u7b80\u660e\u603b\u7ed3\n<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #333;\">\n    <div>\n  <p>\n    \u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u662f\u4e00\u79cd\u795e\u7ecf\u53d1\u80b2\u969c\u788d\uff0c\u5728\u8bed\u8a00\u3001\u773c\u795e\u4ea4\u6d41\u3001\u611f\u5b98\u63a5\u53d7\u65b9\u5f0f\u7b49\u65b9\u9762\u8868\u73b0\u51fa\u4e00\u4e9b\u5927\u8111\u529f\u80fd\u4e0a\u7684\u7279\u5f81\u3002\u672c\u6587\u5c06\u4ee5\u6d45\u663e\u6613\u61c2\u7684\u65b9\u5f0f\u4ecb\u7ecd\u4e00\u79cd\u88ab\u8ba4\u4e3a\u4e0eASD\u80cc\u666f\u76f8\u5173\u7684\u5927\u8111\u7269\u8d28\u2014\u2014GABA\uff08\u03b3-\u6c28\u57fa\u4e01\u9178\uff09\u3002\n  <\/p>\n  <p>\n    GABA\u5177\u6709\u4f7f\u5927\u8111\u795e\u7ecf\u7684\u5174\u594b\u5e73\u9759\u4e0b\u6765\u3001\u4fc3\u8fdb\u4fe1\u606f\u987a\u7545\u4f20\u9012\u7684\u4f5c\u7528\u3002\u5728\u513f\u7ae5\u5927\u8111\u53d1\u80b2\u7684\u8fc7\u7a0b\u4e2d\uff0cGABA\u6709\u65f6\u4f1a\u6682\u65f6\u8d77\u5230\u76f8\u53cd\u7684\u4f5c\u7528\uff0c\u5e2e\u52a9\u5174\u594b\u3002\u5982\u679c\u8fd9\u79cd\u8f6c\u6362\u672a\u80fd\u987a\u5229\u8fdb\u884c\uff0c\u5c31\u53ef\u80fd\u66f4\u5bb9\u6613\u51fa\u73b0\u7c7b\u4f3cASD\u7684\u7279\u5f81\u3002\u9057\u4f20\u56e0\u7d20\uff08\u5982SLC12A5\u3001MECP2\u7b49\uff09\u4ee5\u53ca\u5927\u8111\u5185\u7684\u79bb\u5b50\u5e73\u8861\u4e5f\u6709\u7740\u5bc6\u5207\u5173\u7cfb\u3002\n  <\/p>\n  <p>\n    \u672c\u6587\u5c3d\u53ef\u80fd\u901a\u4fd7\u5730\u4ecb\u7ecd\u4e86\u4e0eASD\u76f8\u5173\u7684\u673a\u5236\u3001\u5e38\u89c1\u75c7\u72b6\u3001\u68c0\u67e5\u548c\u8bca\u65ad\u7684\u65b9\u6cd5\u3001\u6cbb\u7597\u548c\u652f\u6301\u7684\u53ef\u80fd\u6027\uff0c\u4ee5\u53ca\u672a\u6765\u7684\u5c55\u671b\u3002\u5e0c\u671b\u80fd\u4e3a\u5b69\u5b50\u548c\u5bb6\u5ead\u7684\u7406\u89e3\u4e0e\u652f\u6301\u63d0\u4f9b\u4e00\u4e9b\u5e2e\u52a9\u3002\n  <\/p>\n<\/div>\n<\/p>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BD%9COverview\"><\/span><strong>\u6982\u8981\uff5cOverview<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>GABA\uff08\u03b3-\u6c28\u57fa\u4e01\u9178\uff0c\u03b3-aminobutyric acid\uff09\u662f\u6210\u719f\u54fa\u4e73\u52a8\u7269\u5927\u8111\u4e2d\u4e3b\u8981\u7684\u201c\u6291\u5236\u6027\u795e\u7ecf\u9012\u8d28\u201d\u3002\u5b83\u5177\u6709\u8ba9\u795e\u7ecf\u7ec6\u80de\u6d3b\u52a8\u5b89\u9759\u4e0b\u6765\u7684\u4f5c\u7528\uff0c\u5bf9\u4e8e\u5927\u8111\u56de\u8def\u7684\u6b63\u786e\u5f62\u6210\u53ca\u4fe1\u606f\u7684\u6b63\u5e38\u4f20\u9012\u81f3\u5173\u91cd\u8981\u3002<\/p>\n\n\n\n<p>\u5728\u51fa\u751f\u540e\u4e0d\u4e45\u7684\u5927\u8111\u4e2d\uff0cGABA\u4fe1\u53f7\u6682\u65f6\u8868\u73b0\u4e3a\u201c\u5174\u594b\u6027\uff08\u53bb\u6781\u5316\uff0cdepolarizing\uff09\u201d\u3002\u8fd9\u662f\u56e0\u4e3a\u795e\u7ecf\u7ec6\u80de\u5185\u5b58\u5728\u5927\u91cf\u7684\u6c2f\u79bb\u5b50\uff08Cl\u207b\uff09\uff0c\u5e76\u4e14\u7531NKCC1\u8fd9\u79cd\u6c2f\u79bb\u5b50\u8f93\u5165\u8f6c\u8fd0\u86cb\u767d\u7ef4\u6301\u8fd9\u79cd\u72b6\u6001\u3002<\/p>\n\n\n\n<p>\u968f\u7740\u5927\u8111\u53d1\u80b2\uff0cKCC2\u8fd9\u79cd\u5c06\u6c2f\u79bb\u5b50\u6392\u51fa\u7ec6\u80de\u5916\u7684\u8f6c\u8fd0\u86cb\u767d\u9010\u6e10\u589e\u52a0\uff0cGABA\u7684\u4f5c\u7528\u4f1a\u8f6c\u53d8\u4e3a\u201c\u6291\u5236\u6027\uff08\u8d85\u6781\u5316\uff0chyperpolarizing\uff09\u201d\u3002\u8fd9\u79cd\u8f6c\u6362\u88ab\u79f0\u4e3a\u201c\u51fa\u751f\u540e\u7684GABA\u6781\u6027\u8f6c\u6362\uff08postnatal GABA shift\uff09\u201d\uff0c\u662f\u795e\u7ecf\u56de\u8def\u53d1\u80b2\u4e2d\u6781\u4e3a\u5173\u952e\u7684\u8fc7\u7a0b\u3002<\/p>\n\n\n\n<p>\u8fd9\u79cdGABA\u7684\u8f6c\u6362\u4e0d\u4ec5\u4ec5\u662f\u5316\u5b66\u53d8\u5316\uff0c\u8fd8\u6df1\u523b\u53c2\u4e0e\u4e86\u795e\u7ecf\u7ec6\u80de\u7684\u589e\u6b96\u3001\u5206\u5316\u3001\u8fc1\u79fb\u3001\u7a81\u89e6\u7684\u5f62\u6210\u4e0e\u4fee\u526a\uff0c\u4ee5\u53ca\u6574\u4e2a\u795e\u7ecf\u7f51\u7edc\u7684\u8282\u5f8b\uff08\u7f51\u7edc\u632f\u8361\uff09\u548c\u5174\u594b\u2014\u6291\u5236\u5e73\u8861\uff08excitation\/inhibition balance\uff0cE\/I\u5e73\u8861\uff09\u3002<\/p>\n\n\n\n<p>\u5f53\u8fd9\u79cd\u8f6c\u6362\u7684\u65f6\u673a\u3001\u4f4d\u7f6e\u6216\u7a0b\u5ea6\u4e0d\u6b63\u5e38\u65f6\uff0c\u7814\u7a76\u8868\u660e\u4f1a\u4e0e\u81ea\u95ed\u8c31\u7cfb\u969c\u788d\uff08Autism Spectrum Disorder\uff0cASD\uff09\u7b49\u591a\u79cd\u795e\u7ecf\u53d1\u80b2\u969c\u788d\uff08Neurodevelopmental Disorders\uff0cNDDs\uff09\u76f8\u5173\u3002<\/p>\n\n\n\n<p>\u5b9e\u9645\u4e0a\uff0c\u5728ASD\u7684\u52a8\u7269\u6a21\u578b\u548c\u60a3\u8005\u7814\u7a76\u4e2d\u53d1\u73b0\uff0cGABA\u7684\u529f\u80fd\u4e0d\u8db3\u4ee5\u53ca\u8fc7\u5ea6\u6d3b\u8dc3\u7684\u60c5\u51b5\u90fd\u6709\u51fa\u73b0\u3002\u8fd9\u4e9b\u5f02\u5e38\u4e0eGABA\u53d7\u4f53\uff08GABA receptors\uff09\u3001\u6c2f\u79bb\u5b50\u8f6c\u8fd0\u4f53\u4ee5\u53ca\u4fe1\u53f7\u8c03\u8282\u56e0\u5b50\u7684\u57fa\u56e0\u7a81\u53d8\u6709\u5173\u3002<\/p>\n\n\n\n<p>\u66f4\u91cd\u8981\u7684\u662f\uff0c\u8fd9\u4e9b\u4e0eGABA\u76f8\u5173\u7684\u5f02\u5e38\u4e0e\u8c03\u63a7\u795e\u7ecf\u7ec6\u80de\u751f\u957f\u3001\u4ee3\u8c22\u3001\u53ef\u5851\u6027\uff08\u9002\u5e94\u6027\u53d8\u5316\u80fd\u529b\uff09\u7684\u201cPI3K\u2013AKT\u2013mTOR\u901a\u8def\u201d\u6709\u7d27\u5bc6\u4ea4\u4e92\u3002\u8fd9\u4e00\u8def\u5f84\u7684\u5f02\u5e38\u540c\u6837\u88ab\u8ba4\u4e3a\u662fASD\u7b49\u75be\u75c5\u53d1\u75c5\u673a\u5236\u4e2d\u7684\u91cd\u8981\u56e0\u7d20\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%97%E4%BC%A0%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F%EF%BD%9CImplicated_Genomic_Region\"><\/span><strong>\u9057\u4f20\u57fa\u56e0\u533a\u57df\uff5cImplicated Genomic Region<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>GABA\u529f\u80fd\u5f02\u5e38\u88ab\u53d1\u73b0\u4e0e\u591a\u79cd\u57fa\u56e0\u533a\u57df\u7684\u5f02\u5e38\u6709\u5173\u3002\u8fd9\u4e9b\u57fa\u56e0\u7f16\u7801GABA\u53d7\u4f53\u7684\u7ec4\u6210\u90e8\u5206\u3001\u8c03\u8282\u6c2f\u79bb\u5b50\u8fdb\u51fa\u7684\u8f6c\u8fd0\u86cb\u767d\u3001\u7a81\u89e6\u76f8\u5173\u86cb\u767d\u53ca\u8f6c\u5f55\u56e0\u5b50\u7b49\u3002<\/p>\n\n\n\n<p>\u4f8b\u5982\uff0c15q11\u2013q13\u533a\u57df\u5e38\u5728ASD\u4e2d\u51fa\u73b0\u201c\u91cd\u590d\uff08duplication\uff09\u201d\u3002\u8be5\u533a\u57df\u5305\u542b\u7f16\u7801GABA&lt;sub&gt;A&lt;\/sub&gt;\u53d7\u4f53\u4e9a\u57fa\u7684\u57fa\u56e0\uff0c\u5982GABRB3\u3001GABRA5\u548cGABRG3\u3002\u6b64\u5916\uff0c\u8be5\u533a\u57df\u8fd8\u6709\u8c03\u8282\u7a81\u89e6\u5f62\u6210\u7684UBE3A\u57fa\u56e0\uff0c\u76f8\u5173\u75be\u75c5\u88ab\u79f0\u4e3a\u201cDup15q\u7efc\u5408\u5f81\uff08Dup15q syndrome\uff09\u201d\u3002<\/p>\n\n\n\n<p>\u51b3\u5b9aGABA\u6781\u6027\uff08\u4ece\u5174\u594b\u6027\u8f6c\u6362\u4e3a\u6291\u5236\u6027\uff09\u7684\u4e3b\u8981\u6c2f\u79bb\u5b50\u5171\u8f6c\u8fd0\u86cb\u767dKCC2\uff08SLC12A5\uff09\u548cNKCC1\uff08SLC12A2\uff09\u4e5f\u81f3\u5173\u91cd\u8981\u3002\u8fd9\u4e9b\u57fa\u56e0\u7684\u7a81\u53d8\u6216\u8868\u8fbe\u5f02\u5e38\uff0c\u4f1a\u5bfc\u81f4GABA\u5e94\u8f6c\u4e3a\u6291\u5236\u6027\u65f6\u4f9d\u7136\u4fdd\u6301\u5174\u594b\u6027\uff0c\u4ece\u800c\u5f15\u8d77\u795e\u7ecf\u56de\u8def\u7684\u8fc7\u5ea6\u5174\u594b\u6216\u5f02\u5e38\u53d1\u80b2\u3002<\/p>\n\n\n\n<p>\u53e6\u4e00\u4e2a\u4e0eGABA\u901a\u8def\u4e92\u76f8\u4f5c\u7528\u7684\u91cd\u8981\u5206\u5b50\u901a\u8def\u662fPI3K\u2013AKT\u2013mTOR\u901a\u8def\u3002PTEN\u3001TSC1\u3001TSC2\u3001NF1\u7b49\u57fa\u56e0\u53c2\u4e0e\u8be5\u901a\u8def\uff0c\u8c03\u63a7\u795e\u7ecf\u7684\u5174\u594b\u6027\u3001\u86cb\u767d\u8d28\u5408\u6210\u53ca\u6c2f\u79bb\u5b50\u8f6c\u8fd0\u4f53\u7684\u8868\u8fbe\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u5df2\u77e5\u4e0eASD\u76f8\u5173\u7684MECP2\u3001FMR1\u3001SHANK1\/2\/3\u3001CNTNAP2\/3\/4\u3001CDKL5\u7b49\u57fa\u56e0\uff0c\u4e5f\u4e0eGABA\u80fd\u7a81\u89e6\u7684\u5f62\u6210\u3001\u6291\u5236\u6027\u4e2d\u95f4\u795e\u7ecf\u5143\uff08interneuron\uff09\u7684\u529f\u80fd\u53caE\/I\u5e73\u8861\u7684\u7ef4\u6301\u5bc6\u5207\u76f8\u5173\u3002<\/p>\n\n\n\n<p>\u5176\u4ed6\u5982GABA\u5408\u6210\u76f8\u5173\u7684GAD1\/2\uff08\u7f16\u7801\u8c37\u6c28\u9178\u8131\u7fa7\u9176\uff09\u3001\u7a33\u5b9a\u7a81\u89e6\u7ed3\u6784\u7684GPHN\uff08gephyrin\uff09\u3001\u7a81\u89e6\u9ecf\u9644\u5206\u5b50NRXN1\u20133\uff08neurexin\uff09\u53caneuroligin 2\u4e5f\u6df1\u5ea6\u53c2\u4e0eGABA\u53d7\u4f53\u7684\u5b9a\u4f4d\u548c\u7a33\u5b9a\u6027\u3002<\/p>\n\n\n\n<p>\u8fd9\u4e9b\u9057\u4f20\u56e0\u7d20\u901a\u5e38\u4e0d\u4f1a\u5355\u72ec\u51b3\u5b9a\u75be\u75c5\u7684\u53d1\u751f\uff0c\u591a\u6570\u60c5\u51b5\u4e0b\u4f1a\u4e0e\u8868\u89c2\u9057\u4f20\u56e0\u7d20\u3001\u73af\u5883\u56e0\u7d20\u53ca\u6027\u522b\u5dee\u5f02\u5171\u540c\u4f5c\u7528\u3002\u5c24\u5176\u503c\u5f97\u5173\u6ce8\u7684\u662f\uff0c\u901a\u8fc7BDNF\uff08\u8111\u6e90\u6027\u795e\u7ecf\u8425\u517b\u56e0\u5b50\uff09\u53ca\u5176\u53d7\u4f53TrkB\u8c03\u63a7KCC2\u7684\u673a\u5236\uff0c\u8fd9\u4e00\u673a\u5236\u5728\u5b9e\u9a8c\u6a21\u578b\u548c\u4e34\u5e8a\u7814\u7a76\u4e2d\u5747\u88ab\u53cd\u590d\u8bc1\u5b9e\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0%EF%BD%9CDisorder\"><\/span><strong>\u75be\u75c5\u540d\u79f0\uff5cDisorder<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>GABA\u529f\u80fd\u5f02\u5e38\u6d89\u53ca\u7684\u4ee3\u8868\u6027\u75be\u75c5\u662f\u201c\u81ea\u95ed\u8c31\u7cfb\u969c\u788d\uff08Autism Spectrum Disorder\uff0cASD\uff09\u201d\u3002ASD\u662f\u4e00\u79cd\u9ad8\u5ea6\u591a\u6837\u6027\u7684\u795e\u7ecf\u53d1\u80b2\u969c\u788d\uff0c\u75c7\u72b6\u548c\u56f0\u6270\u5728\u4e0d\u540c\u4e2a\u4f53\u95f4\u5dee\u5f02\u5de8\u5927\u3002<\/p>\n\n\n\n<p>\u8be5\u75be\u75c5\u7684\u7279\u5f81\u5305\u62ec\u5728\u8bed\u8a00\u3001\u8868\u60c5\u3001\u80a2\u4f53\u52a8\u4f5c\u7b49\u201c\u793e\u4f1a\u4e92\u52a8\u201d\u65b9\u9762\u7684\u56f0\u96be\uff0c\u4ee5\u53ca\u5bf9\u67d0\u4e9b\u5174\u8da3\u7684\u5f3a\u70c8\u6267\u7740\u6216\u91cd\u590d\u6027\u884c\u4e3a\u3002<\/p>\n\n\n\n<p>\u8bb8\u591aASD\u4e2a\u4f53\u8fd8\u4f1a\u4f34\u968f\u766b\u75eb\u3001\u667a\u529b\u53d1\u80b2\u8fdf\u7f13\uff08\u667a\u529b\u969c\u788d\uff09\u3001\u6ce8\u610f\u7f3a\u9677\u591a\u52a8\u969c\u788d\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001\u7761\u7720\u969c\u788d\u6216\u611f\u5b98\u8fc7\u654f\u7b49\u201c\u5171\u75c5\u75c7\u72b6\uff08comorbidities\uff09\u201d\u3002\u8fd9\u4e9b\u75c7\u72b6\u5747\u4e0e\u5927\u8111\u201c\u5174\u594b\u2014\u6291\u5236\u5e73\u8861\uff08E\/I\u5e73\u8861\uff09\u201d\u7684\u5931\u8c03\u76f8\u5173\u3002<\/p>\n\n\n\n<p>GABA\u529f\u80fd\u5f02\u5e38\u76f4\u63a5\u5f71\u54cd\u8fd9\u79cd\u5e73\u8861\uff0c\u5b83\u65e2\u53ef\u80fd\u662f\u539f\u56e0\uff0c\u4e5f\u53ef\u80fd\u662f\u7ed3\u679c\u3002\u4e5f\u5c31\u662f\u8bf4\uff0c\u65e9\u671fGABA\u5f02\u5e38\u4f1a\u5f71\u54cd\u5927\u8111\u53d1\u80b2\u5e76\u8868\u73b0\u4e3aASD\u7279\u5f81\uff1b\u6216\u8005\u5176\u4ed6\u57fa\u56e0\u6216\u73af\u5883\u56e0\u7d20\u6539\u53d8\u4e86\u5927\u8111\uff0c\u4ece\u800c\u4e8c\u6b21\u6027\u5730\u5bfc\u81f4GABA\u5931\u8861\u3002<\/p>\n\n\n\n<p>\u4e00\u4e9b\u7531\u7279\u5b9a\u57fa\u56e0\u7a81\u53d8\u6216\u67d3\u8272\u4f53\u5f02\u5e38\u5f15\u8d77\u7684\u201c\u7efc\u5408\u5f81\u6027ASD\uff08syndromic autism\uff09\u201d\u51e0\u4e4e\u90fd\u4f34\u6709GABA\u901a\u8def\u7684\u5f02\u5e38\uff0c\u4f8b\u5982\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Rett\u7efc\u5408\u5f81\uff08Rett syndrome\uff09<\/strong>\uff1a\u7531MECP2\u57fa\u56e0\u7a81\u53d8\u5bfc\u81f4\uff0c\u4e3b\u8981\u5f71\u54cd\u5973\u6027\u3002<br><\/li>\n\n\n\n<li><strong>\u8106\u6027X\u7efc\u5408\u5f81\uff08Fragile X syndrome\uff09<\/strong>\uff1a\u7531FMR1\u57fa\u56e0\u529f\u80fd\u964d\u4f4e\u5f15\u8d77\uff0c\u4f34\u6709\u667a\u529b\u969c\u788d\u7684ASD\u7c7b\u578b\u3002<br><\/li>\n\n\n\n<li><strong>Angelman\u7efc\u5408\u5f81\uff08Angelman syndrome\uff09<\/strong>\uff1a\u7531UBE3A\u57fa\u56e0\u5f02\u5e38\u5f15\u8d77\uff0c\u4f34\u6709\u4e25\u91cd\u53d1\u80b2\u969c\u788d\u3002<br><\/li>\n\n\n\n<li><strong>CDKL5\u7f3a\u9677\u7efc\u5408\u5f81\uff08CDKL5 deficiency disorder\uff09<\/strong>\uff1a\u7f55\u89c1\u75be\u75c5\uff0c\u4f34\u6709\u766b\u75eb\u53ca\u4e25\u91cd\u795e\u7ecf\u53d1\u80b2\u8fdf\u6ede\u3002<br><\/li>\n\n\n\n<li><strong>Dup15q\u7efc\u5408\u5f81\uff08Duplication 15q syndrome\uff09<\/strong>\uff1a\u7531GABA\u53d7\u4f53\u76f8\u5173\u57fa\u56e0\u91cd\u590d\u5f15\u53d1\uff0c\u8868\u73b0\u51faASD\u6837\u7279\u5f81\u3002<br><\/li>\n\n\n\n<li><strong>\u5510\u6c0f\u7efc\u5408\u5f81\uff08Down syndrome\uff09<\/strong>\uff1a\u7531\u4e8e21\u53f7\u67d3\u8272\u4f53\u91cd\u590d\uff0c\u62a5\u9053\u663e\u793aNKCC1\u8868\u8fbe\u5f02\u5e38\u3002<br><\/li>\n\n\n\n<li><strong>Dravet\u7efc\u5408\u5f81\uff08Dravet syndrome\uff09<\/strong>\uff1a\u7531SCN1A\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\uff0c\u5f71\u54cdGABA\u6291\u5236\u6027\u795e\u7ecf\u5143\u529f\u80fd\u7684\u766b\u75eb\u7efc\u5408\u5f81\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u7efc\u5408\u5f81\u6709\u5171\u540c\u7279\u70b9\uff1aGABA\u4e3a\u6838\u5fc3\u7684\u795e\u7ecf\u56de\u8def\u529f\u80fd\u969c\u788d\u3001\u6c2f\u79bb\u5b50\u7a33\u6001\u7d0a\u4e71\uff08chloride homeostasis disruption\uff09\u3001\u4ee5\u53ca\u5927\u8111\u8fc7\u5ea6\u5174\u594b\uff08network hyperexcitability\uff09\u3002\u8fd9\u4e9b\u75c7\u72b6\u5f80\u5f80\u8fd8\u4e0ePI3K\u2013AKT\u2013mTOR\u901a\u8def\u7b49\u53d1\u80b2\u4fe1\u53f7\u901a\u8def\u5f02\u5e38\u76f8\u5173\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6%EF%BD%9CEpidemiology\"><\/span><strong>\u6d41\u884c\u75c5\u5b66\uff5cEpidemiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u81ea\u95ed\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u662f\u5168\u7403\u6700\u5e38\u89c1\u7684\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u4e4b\u4e00\uff0c\u7edf\u8ba1\u663e\u793a\u7ea6\u6bcf36\u540d\u513f\u7ae5\u4e2d\u5c31\u67091\u4eba\u88ab\u8bca\u65ad\u4e3aASD\u3002<\/p>\n\n\n\n<p>ASD\u5b58\u5728\u660e\u663e\u7684\u6027\u522b\u5dee\u5f02\uff0c\u7537\u6027\u7684\u8bca\u65ad\u7387\u7ea6\u4e3a\u5973\u6027\u76843\u81f34\u500d\u3002\u539f\u56e0\u5c1a\u672a\u5b8c\u5168\u9610\u660e\uff0c\u4f46\u7814\u7a76\u63a8\u6d4bGABA\u529f\u80fd\u6216\u6c2f\u79bb\u5b50\u8f6c\u8fd0\u4f53\u7684\u8868\u8fbe\u65f6\u95f4\u5dee\u5f02\u53ef\u80fd\u662f\u56e0\u7d20\u4e4b\u4e00\u3002\u4f8b\u5982\u6709\u7814\u7a76\u62a5\u544a\u6307\u51fa\uff0c\u5973\u7ae5\u7684GABA\u201c\u6291\u5236\u6027\u201d\u8f6c\u6362\u53d1\u751f\u5f97\u66f4\u65e9\u3002<\/p>\n\n\n\n<p>\u7ea620\u201330%\u7684ASD\u4e2a\u4f53\u4f34\u6709\u766b\u75eb\u3002\u8fd9\u53ef\u80fd\u53cd\u6620\u4e86\u5927\u8111\u201c\u5174\u594b\u2014\u6291\u5236\u5e73\u8861\uff08E\/I\u5e73\u8861\uff09\u201d\u8c03\u8282\u4e0d\u5f53\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u667a\u529b\u969c\u788d\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\u3001\u7761\u7720\u969c\u788d\u3001\u611f\u5b98\u8fc7\u654f\u7b49\u4e0eGABA\u529f\u80fd\u5f02\u5e38\u76f8\u5173\u7684\u75c7\u72b6\u4e5f\u5e38\u89c1\u4e8eASD\u4e2a\u4f53\u3002<\/p>\n\n\n\n<p>\u867d\u7136\u5927\u90e8\u5206ASD\u75c5\u4f8b\u662f\u591a\u57fa\u56e0\u548c\u73af\u5883\u4ea4\u4e92\u4f5c\u7528\u7684\u7ed3\u679c\uff0c\u4f46\u5c11\u6570\u201c\u7efc\u5408\u5f81\u6027ASD\u201d\u6709\u660e\u786e\u7684\u5355\u57fa\u56e0\u6216\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u8fd9\u7c7b\u75c5\u4f8b\u7684\u5206\u5b50\u673a\u5236\u5f80\u5f80\u6307\u5411GABA\u901a\u8def\u529f\u80fd\u969c\u788d\u6216\u6c2f\u79bb\u5b50\u7a33\u6001\u5931\u8c03\uff0c\u6210\u4e3a\u7814\u7a76ASD\u5206\u5b50\u75c5\u7406\u7684\u91cd\u8981\u7ebf\u7d22\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%EF%BD%9CEtiology\"><\/span><strong>\u75c5\u56e0\uff5cEtiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>ASD\u53ca\u5176\u4ed6\u795e\u7ecf\u53d1\u80b2\u969c\u788d\uff08NDDs\uff09\u7684\u6210\u56e0\u590d\u6742\u591a\u6837\uff0c\u65e2\u6d89\u53ca\u57fa\u56e0\u53d8\u5f02\uff0c\u4e5f\u5305\u62ec\u73af\u5883\u56e0\u7d20\u53ca\u795e\u7ecf\u56de\u8def\u548c\u7ec6\u80de\u529f\u80fd\u7684\u591a\u5c42\u6b21\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u7814\u7a76\u53d1\u73b0\uff0cGABA\u529f\u80fd\u5f02\u5e38\u53ca\u6c2f\u79bb\u5b50\u7a33\u6001\u5931\u8861\u662f\u591a\u6570\u75c5\u4f8b\u7684\u5171\u540c\u673a\u5236\uff0c\u53ef\u4ece\u4e24\u65b9\u9762\u7406\u89e3\uff1a<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%B0%AF%E7%A6%BB%E5%AD%90%E8%BD%AC%E8%BF%90%E4%BD%93%E5%A4%B1%E8%A1%A1%E4%B8%8EGABA%E6%9E%81%E6%80%A7%E8%BD%AC%E6%8D%A2%E5%A4%B1%E8%B4%A5\"><\/span><strong>1. \u6c2f\u79bb\u5b50\u8f6c\u8fd0\u4f53\u5931\u8861\u4e0eGABA\u6781\u6027\u8f6c\u6362\u5931\u8d25<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u80ce\u513f\u671f\u81f3\u65b0\u751f\u513f\u65e9\u671f\uff0c\u5927\u8111\u4e2d\u7684GABA\u672c\u5e94\u5448\u73b0\u201c\u5174\u594b\u6027\uff08\u53bb\u6781\u5316\uff09\u201d\uff0c\u4fc3\u8fdb\u795e\u7ecf\u7ec6\u80de\u7684\u751f\u957f\u4e0e\u8fc1\u79fb\u3002\u6b64\u65f6\u795e\u7ecf\u7ec6\u80de\u5185Cl\u207b\u542b\u91cf\u9ad8\uff0c\u7531NKCC1\uff08SLC12A2\uff09\u4ecb\u5bfc\u3002<\/p>\n\n\n\n<p>\u53d1\u80b2\u540e\u671f\uff0cKCC2\uff08SLC12A5\uff09\u7684\u529f\u80fd\u589e\u5f3a\uff0c\u7ec6\u80de\u5185Cl\u207b\u6d53\u5ea6\u4e0b\u964d\uff0cGABA\u8f6c\u6362\u4e3a\u201c\u6291\u5236\u6027\uff08\u8d85\u6781\u5316\uff09\u201d\u3002\u8fd9\u4e00\u65f6\u673a\u7684\u5207\u6362\u5bf9\u795e\u7ecf\u56de\u8def\u7684\u6210\u719f\u3001\u611f\u5b98\u5904\u7406\u53ca\u884c\u4e3a\u8c03\u8282\u81f3\u5173\u91cd\u8981\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u8fd9\u4e00\u201cGABA\u6781\u6027\u8f6c\u6362\uff08GABA polarity shift\uff09\u201d\u5ef6\u8fdf\u6216\u5931\u8d25\uff0cGABA\u65e0\u6cd5\u6291\u5236\u795e\u7ecf\u6d3b\u52a8\uff0c\u53cd\u800c\u4fc3\u8fdb\u8fc7\u5ea6\u5174\u594b\uff0c\u5bfc\u81f4ASD\u7279\u5f81\u6216\u611f\u5b98\u8fc7\u654f\u3002\u53cd\u4e4b\uff0c\u5982\u679c\u6291\u5236\u5316\u53d1\u751f\u5f97\u8fc7\u65e9\uff08KCC2\u8fc7\u5ea6\u8868\u8fbe\u6216NKCC1\u8fc7\u65e9\u6d88\u5931\uff09\uff0c\u795e\u7ecf\u8fc1\u79fb\u53ca\u56de\u8def\u53ef\u5851\u6027\u4f1a\u53d7\u635f\u3002\u8fd9\u7c7b\u5f02\u5e38\u5728Rett\u7efc\u5408\u5f81\u3001\u8106\u6027X\u7efc\u5408\u5f81\u3001CDKL5\u7f3a\u9677\u7efc\u5408\u5f81\u53ca\u73af\u5883\u56e0\u7d20\uff08\u5982\u5b55\u671f\u708e\u75c7\u6216\u4e19\u620a\u9178\u66b4\u9732\uff09\u6a21\u578b\u4e2d\u5747\u6709\u89c2\u5bdf\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_GABA%E9%80%9A%E8%B7%AF%E4%B8%8EmTOR%E9%80%9A%E8%B7%AF%E7%9A%84%E9%81%97%E4%BC%A0%E5%8F%8A%E5%88%86%E5%AD%90%E5%BC%82%E5%B8%B8\"><\/span><strong>2. GABA\u901a\u8def\u4e0emTOR\u901a\u8def\u7684\u9057\u4f20\u53ca\u5206\u5b50\u5f02\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u6570ASD\u98ce\u9669\u57fa\u56e0\u5f71\u54cdGABA\u529f\u80fd\u6216\u8c03\u63a7\uff0c\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GABA\u53d7\u4f53\u4e9a\u57fa\uff1aGABRB3\u3001GABRA5\u3001GABRG3<br><\/li>\n\n\n\n<li>GABA\u5408\u6210\u4e0e\u8fd0\u8f93\uff1aGAD1\/2\u3001VGAT\u3001gephyrin<br><\/li>\n\n\n\n<li>\u6c2f\u79bb\u5b50\u8f6c\u8fd0\u4f53\uff1aKCC2\u3001NKCC1<br><\/li>\n\n\n\n<li>\u7a81\u89e6\u9ecf\u9644\u5206\u5b50\uff1aNRXN1\u20133\u3001neuroligin\uff08\u5982NLGN2\uff09<br><\/li>\n\n\n\n<li>\u8f6c\u5f55\u8c03\u63a7\u56e0\u5b50\uff1aMECP2\u3001TCF4\u3001CHD8<br><\/li>\n<\/ul>\n\n\n\n<p>PI3K\u2013AKT\u2013mTOR\u901a\u8def\u540c\u6837\u9ad8\u5ea6\u76f8\u5173\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>PTEN\u3001TSC1\/2\u3001NF1\u7b49\u662fmTOR\u6291\u5236\u56e0\u5b50\uff0c\u7a81\u53d8\u4f1a\u5bfc\u81f4\u86cb\u767d\u8d28\u5408\u6210\u8fc7\u5ea6\uff0c\u7a81\u89e6\u8c03\u63a7\u5931\u8861\u3002<br><\/li>\n\n\n\n<li>SHANK3\u3001UBE3A\u3001CHD8\u5f71\u54cdGABA\u7a81\u89e6\u7ed3\u6784\u6570\u91cf\u5e76\u53ef\u6fc0\u6d3bmTOR\u901a\u8def\u3002<br><\/li>\n\n\n\n<li>MECP2\uff08Rett\u7efc\u5408\u5f81\u57fa\u56e0\uff09\u901a\u8fc7BDNF\u2013TrkB\u901a\u8def\u8c03\u63a7KCC2\u8868\u8fbe\uff0c\u5f71\u54cdGABA\u6781\u6027\u8f6c\u6362\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u73af\u5883\u56e0\u7d20\u5982\u4e19\u620a\u9178\u66b4\u9732\u3001\u5b55\u671f\u708e\u75c7\u3001\u6c27\u5316\u5e94\u6fc0\u4e5f\u53ef\u901a\u8fc7\u6539\u53d8\u6c2f\u79bb\u5b50\u8f6c\u8fd0\u6216\u6fc0\u6d3b\u8111\u5185\u5c0f\u80f6\u8d28\u7ec6\u80de\uff0c\u5f71\u54cdGABA\u7684\u53d1\u80b2\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%EF%BD%9CSymptoms\"><\/span><strong>\u75c7\u72b6\uff5cSymptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5982\u679cGABA\u7684\u529f\u80fd\u5728\u8111\u90e8\u53d1\u80b2\u7684\u5173\u952e\u65f6\u671f\u51fa\u73b0\u7d0a\u4e71\uff0c\u4fbf\u53ef\u80fd\u5bfc\u81f4\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u4ee5\u53ca\u5176\u4ed6\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u4e2d\u5e38\u89c1\u7684\u591a\u79cd\u75c7\u72b6\u3002\u8fd9\u4e9b\u75c7\u72b6\u4e0d\u4ec5\u4ec5\u53cd\u6620\u5355\u4e2a\u795e\u7ecf\u7ec6\u80de\u7684\u95ee\u9898\uff0c\u8fd8\u53cd\u6620\u6574\u4e2a\u5927\u8111\u7f51\u7edc\u7684\u529f\u80fd\u3001\u8282\u5f8b\uff08\u8111\u7535\u6d3b\u52a8\uff09\u4ee5\u53ca\u53ef\u5851\u6027\uff08\u9002\u5e94\u53d8\u5316\u7684\u80fd\u529b\uff09\u7684\u5f02\u5e38\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E8%A6%81%E8%A1%8C%E4%B8%BA%E7%89%B9%E5%BE%81\"><\/span><strong>\u4e3b\u8981\u884c\u4e3a\u7279\u5f81<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>1. \u793e\u4f1a\u4ea4\u5f80\u56f0\u96be<\/strong><strong><br><\/strong> \u524d\u989d\u53f6\u3001\u989e\u53f6\u7b49\u8111\u533a\u7684E\/I\u5e73\u8861\u5931\u8c03\u88ab\u8ba4\u4e3a\u662f\u91cd\u8981\u539f\u56e0\u3002\u5c24\u5176\u662f\u5f53PV+\u6291\u5236\u6027\u4e2d\u95f4\u795e\u7ecf\u5143\u529f\u80fd\u51cf\u5f31\u65f6\uff0c\u5927\u8111\u5904\u7406\u793e\u4f1a\u4fe1\u606f\u6240\u9700\u7684\u795e\u7ecf\u540c\u6b65\u6027\u4f1a\u53d7\u635f\u3002<\/p>\n\n\n\n<p><strong>2. \u5bf9\u7279\u5b9a\u5174\u8da3\u7684\u6267\u7740\u53ca\u91cd\u590d\u884c\u4e3a<\/strong><strong><br><\/strong> GABA-A\u53d7\u4f53\u6216\u5176\u8f6c\u8fd0\u86cb\u767d\u5f02\u5e38\u7684\u5c0f\u9f20\u6a21\u578b\u4e2d\u4e5f\u89c2\u5bdf\u5230\u4e86\u7c7b\u4f3c\u7684\u91cd\u590d\u884c\u4e3a\u3002<\/p>\n\n\n\n<p><strong>3. \u611f\u5b98\u8fc7\u654f\uff08\u5c24\u5176\u662f\u89e6\u89c9\u548c\u542c\u89c9\uff09<\/strong><strong><br><\/strong> \u5982\u679cGABA\u5728\u4e18\u8111\u2014\u76ae\u8d28\u56de\u8def\u4e2d\u7684\u8c03\u8282\u529f\u80fd\u53d7\u635f\uff0c\u4e2a\u4f53\u4fbf\u96be\u4ee5\u8c03\u8282\u5916\u754c\u523a\u6fc0\u7684\u5f3a\u5ea6\uff0c\u4ece\u800c\u8868\u73b0\u51fa\u611f\u5b98\u8fc7\u654f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%BB%8F%E5%AD%A6%E5%85%B1%E7%97%85\"><\/span><strong>\u795e\u7ecf\u5b66\u5171\u75c5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>1. \u766b\u75eb\u4e0e\u62bd\u6410\u53d1\u4f5c<\/strong><strong><br><\/strong> \u5982\u679cGABA\u957f\u671f\u4fdd\u6301\u5174\u594b\u6027\u72b6\u6001\uff0c\u7ec6\u80de\u65e0\u6cd5\u6709\u6548\u6392\u51faCl\u207b\uff0c\u4fbf\u4f1a\u5bfc\u81f4\u795e\u7ecf\u8fc7\u5ea6\u5174\u594b\uff0c\u4ece\u800c\u5f15\u53d1\u766b\u75eb\u53d1\u4f5c\uff08\u5982Dravet\u7efc\u5408\u5f81\u3001Rett\u7efc\u5408\u5f81\uff09\u3002<\/p>\n\n\n\n<p><strong>2. \u667a\u529b\u969c\u788d<\/strong><strong><br><\/strong> GABA\u529f\u80fd\u5f02\u5e38\u4f1a\u963b\u788d\u795e\u7ecf\u56de\u8def\u7684\u7cbe\u7ec6\u5316\uff08\u7a81\u89e6\u4fee\u526a\uff09\u4e0e\u7f51\u7edc\u5f62\u6210\uff0c\u5bfc\u81f4\u5b66\u4e60\u3001\u8bb0\u5fc6\u7b49\u529f\u80fd\u53d1\u80b2\u4e0d\u8db3\u3002<\/p>\n\n\n\n<p><strong>3. \u7761\u7720\u969c\u788d<\/strong><strong><br><\/strong> \u5f53GABA\u5728\u4e0b\u4e18\u8111\u6216\u8111\u5e72\u7684\u529f\u80fd\u88ab\u6270\u4e71\u65f6\uff0c\u751f\u7269\u949f\u53ca\u7761\u7720\u8282\u5f8b\u53ef\u80fd\u53d7\u5230\u5f71\u54cd\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%BB%8F%E7%94%9F%E7%90%86%E7%89%B9%E5%BE%81\"><\/span><strong>\u795e\u7ecf\u751f\u7406\u7279\u5f81<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>1. \u4f3d\u9a6c\u6ce2\uff0830\u201380Hz\uff09\u51cf\u5c11<\/strong><strong><br><\/strong> PV+\u6291\u5236\u6027\u4e2d\u95f4\u795e\u7ecf\u5143\u6d3b\u52a8\u4e0b\u964d\u4f1a\u5bfc\u81f4\u9ad8\u9891\u8111\u6ce2\uff08\u4f3d\u9a6c\u6ce2\uff09\u964d\u4f4e\uff0c\u4f7f\u4fe1\u606f\u5904\u7406\u6548\u7387\u4e0b\u964d\u3002<\/p>\n\n\n\n<p><strong>2. GABA\u6781\u6027\u8f6c\u6362\u5ef6\u8fdf\u6216\u5f02\u5e38<\/strong><strong><br><\/strong> \u795e\u7ecf\u7f51\u7edc\u5931\u53bb\u540c\u6b65\u6027\uff0c\u201c\u5de8\u5927\u53bb\u6781\u5316\u7535\u4f4d\uff08GDPs\uff09\u201d\u7b49\u5f02\u5e38\u6d3b\u52a8\u6301\u7eed\u5b58\u5728\u3002<\/p>\n\n\n\n<p><strong>3. \u8111\u7535\uff08EEG\uff09\u6a21\u5f0f\u5f02\u5e38<\/strong><strong><br><\/strong> ASD\u4e2a\u4f53\u7684EEG\u9891\u8c31\u5f80\u5f80\u6ce2\u52a8\u66f4\u5927\uff0c\u4f3d\u9a6c\u9891\u6bb5\u4e00\u81f4\u6027\u964d\u4f4e\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%80%A7%E5%88%AB%E5%8F%8A%E8%84%91%E5%8C%BA%E5%B7%AE%E5%BC%82\"><\/span><strong>\u6027\u522b\u53ca\u8111\u533a\u5dee\u5f02<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5973\u7ae5\u7684GABA\u6781\u6027\u8f6c\u6362\u66f4\u65e9<\/strong><strong><br><\/strong> \u8fd9\u88ab\u8ba4\u4e3a\u90e8\u5206\u89e3\u91ca\u4e86ASD\u7684\u6027\u522b\u5dee\u5f02\u3002<br><\/li>\n\n\n\n<li><strong>\u8111\u533a\u7279\u5f02\u6027<\/strong><strong><br><\/strong> \u4e0d\u540c\u8111\u533a\u7684GABA\u76f8\u5173\u6807\u8bb0\u7269\u53ca\u6c2f\u79bb\u5b50\u8f6c\u8fd0\u86cb\u767d\u5f02\u5e38\u8868\u73b0\u4e0d\u540c\uff0c\u5982\u524d\u6263\u5e26\u76ae\u8d28\u3001\u6d77\u9a6c\u4f53\u3001\u89c6\u89c9\u76ae\u8d28\u7b49\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u7efc\u5408\u6765\u770b\uff0cGABA\u529f\u80fd\u5f02\u5e38\u76f8\u5173\u75c7\u72b6\u5f80\u5f80\u7531\u53d1\u80b2\u65f6\u5e8f\u7684\u9519\u4f4d\u53ca\u8111\u533a\u8106\u5f31\u6027\u7684\u53e0\u52a0\u6240\u81f4\u3002\u6291\u5236\u4e0d\u8db3\uff08disinhibition\uff09\u662f\u8fd9\u4e9b\u591a\u6837\u75c7\u72b6\u7684\u6838\u5fc3\u673a\u5236\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A3%80%E6%9F%A5%E4%B8%8E%E8%AF%8A%E6%96%AD%EF%BD%9CTesting_Diagnosis\"><\/span><strong>\u68c0\u67e5\u4e0e\u8bca\u65ad\uff5cTesting &amp; Diagnosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u76ee\u524d\uff0c\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u7684\u8bca\u65ad\u4e3b\u8981\u57fa\u4e8e\u4e34\u5e8a\u89c2\u5bdf\u4e0e\u884c\u4e3a\u8bc4\u4f30\u3002\u56fd\u9645\u4e0a\u901a\u5e38\u4f9d\u636e\u300aDSM-5\uff08\u7cbe\u795e\u969c\u788d\u8bca\u65ad\u4e0e\u7edf\u8ba1\u624b\u518c\u7b2c5\u7248\uff09\u300b\u7684\u6807\u51c6\uff0c\u786e\u8ba4\u793e\u4f1a\u4ea4\u5f80\u969c\u788d\u53ca\u6709\u9650\u3001\u91cd\u590d\u6027\u884c\u4e3a\u6216\u5174\u8da3\u7684\u5b58\u5728\u3002<\/p>\n\n\n\n<p>\u968f\u7740\u7814\u7a76\u8fdb\u5c55\uff0c\u79d1\u5b66\u5bb6\u5c1d\u8bd5\u901a\u8fc7\u751f\u7269\u6807\u5fd7\u7269\u8fdb\u884c\u5206\u5c42\uff08stratification\uff09\uff0c\u4e3a\u672a\u6765\u7684\u7cbe\u51c6\u533b\u5b66\uff08precision medicine\uff09\u6253\u4e0b\u57fa\u7840\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%91%E5%BD%B1%E5%83%8F%E4%B8%8E%E7%A5%9E%E7%BB%8F%E7%94%9F%E7%90%86%E6%A0%87%E5%BF%97%E7%89%A9\"><\/span><strong>\u8111\u5f71\u50cf\u4e0e\u795e\u7ecf\u751f\u7406\u6807\u5fd7\u7269<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u78c1\u5171\u632f\u6ce2\u8c31\uff08Magnetic Resonance Spectroscopy, MRS\uff09<\/strong><strong><br><\/strong> \u8fd9\u662f\u4e00\u79cd\u65e0\u521b\u68c0\u6d4b\u6280\u672f\uff0c\u53ef\u91cf\u5316\u7279\u5b9a\u8111\u533a\u7684GABA\u6d53\u5ea6\u3002ASD\u7814\u7a76\u663e\u793a\uff0c\u5728\u524d\u6263\u5e26\u76ae\u8d28\u3001\u524d\u989d\u53f6\u76ae\u8d28\u53ca\u4f53\u611f\u76ae\u8d28\u533a\u57df\uff0cGABA\/\u8c37\u6c28\u9178\u6bd4\u503c\uff08GABA\/glutamate ratio\uff09\u6709\u4e0b\u964d\u8d8b\u52bf\uff0c\u4f46\u7ed3\u679c\u968f\u5e74\u9f84\u548c\u4e2a\u4f53\u5dee\u5f02\u800c\u5f02\u3002<\/p>\n\n\n\n<p><strong>\u8111\u7535\u56fe\uff08Electroencephalography, EEG\uff09<\/strong><strong><br><\/strong> EEG\u7814\u7a76\u53d1\u73b0\uff0cASD\u4e2a\u4f53\u5e38\u8868\u73b0\u51fa\u4f3d\u9a6c\u6ce2\u5e45\u5ea6\u964d\u4f4e\u3001\u9891\u8c31\u659c\u7387\u5f02\u5e38\u53caE\/I\u5e73\u8861\u6ce2\u52a8\u589e\u52a0\u7b49\u6a21\u5f0f\u3002\u8fd9\u4e9b\u6307\u6807\u672a\u6765\u53ef\u80fd\u6210\u4e3a\u5206\u578b\u6216\u7597\u6548\u9884\u6d4b\u7684\u5de5\u5177\u3002<\/p>\n\n\n\n<p><strong>\u53cc\u773c\u89c6\u91ce\u7ade\u4e89\u5b9e\u9a8c\uff08Binocular Rivalry Paradigm\uff09<\/strong><strong><br><\/strong> ASD\u4e2a\u4f53\u7684\u89c6\u89c9\u5904\u7406\u901f\u5ea6\u4e0eGABA\u6d53\u5ea6\u4e4b\u95f4\u7684\u76f8\u5173\u6027\u51cf\u5f31\uff0c\u63d0\u793a\u89c6\u89c9\u76ae\u8d28\u7684\u6291\u5236\u529f\u80fd\u5931\u8861\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A7%A3%E5%89%96%E5%AD%A6%E4%B8%8E%E9%81%97%E4%BC%A0%E5%AD%A6%E5%8F%91%E7%8E%B0\"><\/span><strong>\u89e3\u5256\u5b66\u4e0e\u9057\u4f20\u5b66\u53d1\u73b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c38\u68c0\u8111\u7ec4\u7ec7\u7814\u7a76\u53d1\u73b0\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>PV+\u6291\u5236\u6027\u4e2d\u95f4\u795e\u7ecf\u5143\u6570\u91cf\u51cf\u5c11<br><\/li>\n\n\n\n<li>GABA\u5408\u6210\u9176GAD65\/67\u4e0b\u964d<br><\/li>\n\n\n\n<li>KCC2\u6216GABA\u53d7\u4f53\u57fa\u56e0\u7684\u8868\u89c2\u9057\u4f20\u4e0b\u8c03<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u90fd\u6307\u5411\u6291\u5236\u6027\u795e\u7ecf\u4f20\u9012\u7684\u964d\u4f4e\u3002<\/p>\n\n\n\n<p>\u867d\u7136\u57fa\u56e0\u68c0\u6d4b\u4e0d\u662fASD\u8bca\u65ad\u7684\u5e38\u89c4\u6b65\u9aa4\uff0c\u4f46\u90e8\u5206\u75c5\u4f8b\u53ef\u53d1\u73b0\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5355\u57fa\u56e0\u7a81\u53d8\uff1aMECP2\u3001FMR1\u3001SHANK3<br><\/li>\n\n\n\n<li>GABA\u76f8\u5173\u57fa\u56e0\u7684\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\uff08SNPs\uff09\uff1a\u5982GABRB3\u3001GABRA5\u3001SLC12A5<br><\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u7ed3\u6784\u53d8\u5316\uff08\u62f7\u8d1d\u6570\u53d8\u5f02\uff0cCNVs\uff09\uff1a\u5982Dup15q\u7efc\u5408\u5f81<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u4fe1\u606f\u6709\u52a9\u4e8e\u8bca\u65ad\u7efc\u5408\u5f81\u6027ASD\uff0c\u5e76\u6307\u5bfc\u4e2a\u4f53\u5316\u6cbb\u7597\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86%EF%BD%9CTreatment_Management\"><\/span><strong>\u6cbb\u7597\u4e0e\u7ba1\u7406\uff5cTreatment &amp; Management<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u76ee\u524d\u9488\u5bf9\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u7684\u836f\u7269\u6709\u9650\uff0c\u4e3b\u8981\u96c6\u4e2d\u5728\u5904\u7406\u4f34\u968f\u75c7\u72b6\uff0c\u5982\u6613\u6fc0\u60f9\u3001\u766b\u75eb\u6216\u7761\u7720\u969c\u788d\u3002<\/p>\n\n\n\n<p>\u7136\u800c\uff0c\u8fd1\u5e74\u6765\u9488\u5bf9GABA\u529f\u80fd\u5f02\u5e38\u53ca\u6c2f\u79bb\u5b50\u7a33\u6001\u5931\u8861\u7684\u6cbb\u7597\u63a2\u7d22\u5feb\u901f\u53d1\u5c55\uff0c\u4ece\u52a8\u7269\u5b9e\u9a8c\u5230\u4e34\u5e8a\u8bd5\u9a8c\u5747\u6709\u6d89\u53ca\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%92%88%E5%AF%B9%E6%B0%AF%E7%A6%BB%E5%AD%90%E8%BD%AC%E8%BF%90%E4%BD%93%E7%9A%84%E6%B2%BB%E7%96%97\"><\/span><strong>1. \u9488\u5bf9\u6c2f\u79bb\u5b50\u8f6c\u8fd0\u4f53\u7684\u6cbb\u7597<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u5e03\u7f8e\u4ed6\u5c3c\uff08Bumetanide\uff09<\/strong><strong><br><\/strong> \u5e03\u7f8e\u4ed6\u5c3c\u662f\u4e00\u79cd\u9009\u62e9\u6027\u6291\u5236NKCC1\uff08\u94a0-\u94be-\u6c2f\u5171\u8f6c\u8fd0\u4f531\uff09\u7684\u5229\u5c3f\u5242\uff0c\u53ef\u964d\u4f4e\u795e\u7ecf\u7ec6\u80de\u5185Cl\u207b\u6d53\u5ea6\uff0c\u4ece\u800c\u5e2e\u52a9GABA\u4ece\u201c\u5174\u594b\u6027\u201d\u5411\u201c\u6291\u5236\u6027\u201d\u8f6c\u6362\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u52a8\u7269\u6a21\u578b\uff1a\u6539\u5584\u884c\u4e3a\u4e0e\u795e\u7ecf\u7f51\u7edc\u5f02\u5e38\u3002<br><\/li>\n\n\n\n<li>\u4e34\u5e8a\u7814\u7a76\uff1a\u5c0f\u89c4\u6a21\u8bd5\u9a8c\u8868\u660e\u90e8\u5206\u513f\u7ae5\u75c7\u72b6\u6709\u6539\u5584\uff0c\u5c24\u5176\u662f\u4f34\u968fEEG\u5f02\u5e38\u6216\u708e\u75c7\u6307\u6807\u5347\u9ad8\u7684\u4e2a\u4f53\u3002<br><\/li>\n\n\n\n<li>\u5c40\u9650\u6027\uff1a\u8840\u8111\u5c4f\u969c\u901a\u900f\u6027\u5f31\uff0c\u526f\u4f5c\u7528\u5305\u62ec\u4f4e\u94be\u8840\u75c7\u3001\u8131\u6c34\uff0c\u9700\u4e25\u683c\u76d1\u6d4b\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><strong>KCC2\u6fc0\u6d3b\u5242<\/strong><strong><br><\/strong> \u5c1a\u5904\u4e8e\u524d\u4e34\u5e8a\u9636\u6bb5\uff0c\u5982CLP257\u7b49\u836f\u7269\u6709\u671b\u589e\u5f3aCl\u207b\u5916\u6392\uff0c\u6062\u590dGABA\u7684\u6291\u5236\u4f5c\u7528\uff0c\u5e76\u6539\u5584\u7a81\u89e6\u53ef\u5851\u6027\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%B0%83%E8%8A%82GABA%E5%8F%97%E4%BD%93%E7%9A%84%E8%8D%AF%E7%89%A9\"><\/span><strong>2. \u8c03\u8282GABA\u53d7\u4f53\u7684\u836f\u7269<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>GABA-A\u53d7\u4f53\u6fc0\u52a8\u5242\u6216\u8c03\u8282\u5242<\/strong><strong><br><\/strong> \u5982Gaboxadol\u6216\u82ef\u4e8c\u6c2e\u44ec\u7c7b\u836f\u7269\uff0c\u53ef\u589e\u5f3aGABA\u7684\u6301\u7eed\u6027\u6291\u5236\uff08tonic inhibition\uff09\uff0c\u4f46\u7597\u6548\u4e2a\u4f53\u5dee\u5f02\u5927\uff0c\u6709\u7684\u60a3\u8005\u4f1a\u51fa\u73b0\u55dc\u7761\uff0c\u6709\u7684\u5219\u7126\u8651\u52a0\u5267\u3002<\/p>\n\n\n\n<p><strong>GABA-B\u53d7\u4f53\u6fc0\u52a8\u5242\uff08\u5982\u5df4\u514b\u6d1b\u82ac\uff0cBaclofen\uff09<\/strong><strong><br><\/strong> \u52a8\u7269\u6a21\u578b\u663e\u793a\u53ef\u51cf\u5c11\u91cd\u590d\u884c\u4e3a\u5e76\u6539\u5584\u8111\u7535\u6d3b\u52a8\uff0c\u4e34\u5e8a\u524d\u666f\u88ab\u770b\u597d\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%92%88%E5%AF%B9%E5%88%86%E5%AD%90%E9%80%9A%E8%B7%AF%E7%9A%84%E6%B2%BB%E7%96%97\"><\/span><strong>3. \u9488\u5bf9\u5206\u5b50\u901a\u8def\u7684\u6cbb\u7597<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>PI3K\u2013AKT\u2013mTOR\u901a\u8def\u8c03\u63a7<\/strong><strong><br><\/strong> \u5728\u7ed3\u8282\u6027\u786c\u5316\u75c7\u6216PTEN\u7a81\u53d8\u76f8\u5173\u7684ASD\u75c5\u4f8b\u4e2d\uff0c\u96f7\u5e15\u9709\u7d20\u884d\u751f\u7269\uff08\u5982\u4f9d\u7ef4\u83ab\u53f8\uff09\u53ef\u6539\u5584E\/I\u5e73\u8861\u53ca\u7f51\u7edc\u540c\u6b65\u6027\u3002<\/p>\n\n\n\n<p><strong>BDNF\u2013TrkB\u901a\u8def\u8c03\u63a7<\/strong><strong><br><\/strong> \u901a\u8fc7\u523a\u6fc0\u6b64\u901a\u8def\uff0c\u53ef\u4fc3\u8fdbKCC2\u8868\u8fbe\uff0c\u5e2e\u52a9GABA\u6781\u6027\u8f6c\u6362\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%9F%BA%E5%9B%A0%E4%B8%8E%E7%BB%86%E8%83%9E%E6%B2%BB%E7%96%97\"><\/span><strong>4. \u57fa\u56e0\u4e0e\u7ec6\u80de\u6cbb\u7597<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u57fa\u56e0\u6cbb\u7597<\/strong><strong><br><\/strong> \u5728Rett\u7efc\u5408\u5f81\u6a21\u578b\u4e2d\uff0c\u91cd\u65b0\u6fc0\u6d3bMECP2\u57fa\u56e0\u53ef\u90e8\u5206\u6062\u590dGABA\u4f20\u9012\u53ca\u884c\u4e3a\u529f\u80fd\u3002<\/p>\n\n\n\n<p><strong>\u7ec6\u80de\u6cbb\u7597<\/strong><strong><br><\/strong> \u5c06\u80da\u80ce\u5185\u4fa7\u795e\u7ecf\u8282\u533a\uff08MGE\uff09\u6765\u6e90\u7684\u4e2d\u95f4\u795e\u7ecf\u5143\u79fb\u690d\u81f3\u6a21\u578b\u52a8\u7269\u8111\u4e2d\uff0c\u80fd\u591f\u6062\u590d\u6291\u5236\u529f\u80fd\u4e0e\u793e\u4ea4\u884c\u4e3a\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E9%9D%9E%E8%8D%AF%E7%89%A9%E5%B9%B2%E9%A2%84\"><\/span><strong>5. \u975e\u836f\u7269\u5e72\u9884<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u611f\u5b98\u523a\u6fc0\u4e30\u5bcc\u5316\uff08sensory enrichment\uff09<\/strong><strong><br><\/strong> \u52a8\u7269\u5b9e\u9a8c\u8868\u660e\uff0c\u901a\u8fc7\u589e\u52a0\u73af\u5883\u523a\u6fc0\uff0c\u53ef\u4fc3\u8fdbKCC2\u8868\u8fbe\u5e76\u6062\u590d\u6291\u5236\u6027\u795e\u7ecf\u529f\u80fd\u3002<\/p>\n\n\n\n<p><strong>\u5176\u4ed6\u65b9\u6cd5<\/strong><strong><br><\/strong> \u996e\u98df\u63a7\u5236\u3001\u8fd0\u52a8\u8bad\u7ec3\uff0c\u4ee5\u53ca\u7ecf\u9885\u76f4\u6d41\u523a\u6fc0\uff08tDCS\uff09\u6216\u7ecf\u9885\u78c1\u523a\u6fc0\uff08TMS\uff09\u7b49\u795e\u7ecf\u8c03\u63a7\u65b9\u6cd5\uff0c\u4e5f\u5728\u7814\u7a76\u63a2\u7d22\u9636\u6bb5\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E%EF%BD%9CPrognosis\"><\/span><strong>\u9884\u540e\uff5cPrognosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u7684\u9884\u540e\u5dee\u5f02\u5f88\u5927\uff0c\u4e0eGABA\u529f\u80fd\u53ca\u795e\u7ecf\u56de\u8def\u5f02\u5e38\u7684\u53d1\u751f\u65f6\u95f4\u548c\u7a0b\u5ea6\u5bc6\u5207\u76f8\u5173\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%89%E5%88%A9%E5%9B%A0%E7%B4%A0\"><\/span><strong>\u6709\u5229\u56e0\u7d20<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GABA\u6781\u6027\u8f6c\u6362\u53d1\u751f\u65f6\u5f97\u5230\u65e9\u671f\u652f\u6301<br><\/li>\n\n\n\n<li>\u65e0\u660e\u663e\u667a\u529b\u969c\u788d\u6216\u8bed\u8a00\u969c\u788d<br><\/li>\n\n\n\n<li>\u660e\u786e\u7684\u57fa\u56e0\u80cc\u666f\uff0c\u5982KCC2\/NKCC1\u5931\u8861\uff0c\u53ef\u9488\u5bf9\u6027\u5e94\u7528\u5e03\u7f8e\u4ed6\u5c3c\u7b49\u836f\u7269<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%8C%81%E7%BB%AD%E5%9B%B0%E9%9A%BE%E7%9A%84%E9%A3%8E%E9%99%A9%E5%9B%A0%E7%B4%A0\"><\/span><strong>\u6301\u7eed\u56f0\u96be\u7684\u98ce\u9669\u56e0\u7d20<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GABA\u6781\u6027\u8f6c\u6362\u663e\u8457\u5ef6\u8fdf\u6216\u7f3a\u5931\uff0c\u5bfc\u81f4\u795e\u7ecf\u56de\u8def\u7ed3\u6784\u6c38\u4e45\u9519\u914d<br><\/li>\n\n\n\n<li>\u4f34\u766b\u75eb\u7684ASD\uff08\u5982Rett\u3001Dravet\uff09\u5f80\u5f80\u75c7\u72b6\u66f4\u91cd<br><\/li>\n\n\n\n<li>\u9752\u6625\u671f\u540e\u7684\u6fc0\u7d20\u53d8\u5316\u3001\u73af\u5883\u538b\u529b\u6216\u6162\u6027\u708e\u75c7\u53ef\u80fd\u8fdb\u4e00\u6b65\u5f71\u54cdGABA\u7cfb\u7edf<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%BB%8F%E5%8F%AF%E5%A1%91%E6%80%A7%E4%B8%8E%E8%A1%A5%E5%81%BF%E5%8A%9B\"><\/span><strong>\u795e\u7ecf\u53ef\u5851\u6027\u4e0e\u8865\u507f\u529b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c3d\u7ba1\u5b58\u5728\u65e9\u671f\u529f\u80fd\u969c\u788d\uff0c\u5927\u8111\u5177\u5907\u6062\u590d\u548c\u8865\u507f\u80fd\u529b\u3002\u901a\u8fc7\u7ecf\u9a8c\u5b66\u4e60\uff0c\u60a3\u8005\u53ef\u5efa\u7acb\u66ff\u4ee3\u6027\u795e\u7ecf\u901a\u8def\u5e76\u9002\u5e94\u793e\u4f1a\u751f\u6d3b\u3002\u9002\u5f53\u7684\u652f\u6301\u548c\u73af\u5883\u5e72\u9884\u53ef\u663e\u8457\u589e\u5f3a\u8fd9\u79cd\u53ef\u5851\u6027\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%BB%93%E8%AE%BA%EF%BD%9CConclusion\"><\/span><strong>\u7ed3\u8bba\uff5cConclusion<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6df1\u5165\u7406\u89e3GABA\u8fd9\u4e00\u795e\u7ecf\u9012\u8d28\u7684\u673a\u5236\uff0c\u662f\u63ed\u5f00ASD\u7b49\u590d\u6742\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u673a\u5236\u7684\u5173\u952e\u3002GABA\u53d7\u4f53\u3001\u6c2f\u79bb\u5b50\u8f6c\u8fd0\u4f53\u53caPI3K\u2013AKT\u2013mTOR\u901a\u8def\u76f8\u4e92\u534f\u4f5c\uff0c\u7ef4\u6301\u5fae\u5999\u7684\u5174\u594b\u4e0e\u6291\u5236\u5e73\u8861\u3002\u7136\u800c\uff0c\u8fd9\u79cd\u5e73\u8861\u6781\u6613\u88ab\u65f6\u95f4\u5fae\u5dee\u3001\u57fa\u56e0\u53d8\u5f02\u6216\u708e\u75c7\u53cd\u5e94\u6253\u7834\u3002<\/p>\n\n\n\n<p>\u7814\u7a76\u8868\u660e\uff0c\u8fd9\u5e76\u975e\u201c\u6ce8\u5b9a\u7684\u547d\u8fd0\u201d\uff0c\u800c\u662f\u8106\u5f31\u4e0e\u6062\u590d\u529b\u7684\u89d2\u529b\u3002\u5373\u4fbfGABA\u672a\u80fd\u987a\u5229\u8f6c\u4e3a\u6291\u5236\u6027\uff0c\u6216\u4e2d\u95f4\u795e\u7ecf\u5143\u8fc1\u79fb\u51fa\u73b0\u969c\u788d\uff0c\u5927\u8111\u4e5f\u4f1a\u5c1d\u8bd5\u5bfb\u627e\u65b0\u7684\u8def\u5f84\u4ee5\u5b9e\u73b0\u9002\u5e94\u3002<\/p>\n\n\n\n<p>\u91cd\u8981\u7684\u662f\uff0c\u529f\u80fd\u8868\u9762\u6b63\u5e38\u5e76\u4e0d\u610f\u5473\u7740\u4e2a\u4f53\u4e0d\u9700\u8981\u652f\u6301\u3002\u652f\u6301\u9700\u6c42\u4e0d\u5e94\u4ec5\u4ec5\u901a\u8fc7\u75c7\u72b6\u8868\u8c61\u6765\u8861\u91cf\uff0c\u6bcf\u4e00\u6bb5\u53d1\u5c55\u7ecf\u5386\u90fd\u503c\u5f97\u5173\u6ce8\u4e0e\u7406\u89e3\u3002<\/p>\n\n\n\n<p>\u4eba\u7c7b\u795e\u7ecf\u7cfb\u7edf\u590d\u6742\u800c\u8106\u5f31\uff0c\u5374\u53c8\u60ca\u4eba\u5730\u7075\u6d3b\u3002\u5728\u8fd9\u79cd\u5fae\u5999\u7684\u5e73\u8861\u4e2d\uff0c\u4eba\u7c7b\u80fd\u591f\u611f\u77e5\u3001\u5b66\u4e60\u3001\u7231\u4e0e\u8d4b\u4e88\u610f\u4e49\u3002\u54ea\u6015\u5e73\u8861\u6709\u504f\u5dee\uff0c\u8fd9\u4e5f\u4e0d\u610f\u5473\u7740\u5931\u53bb\u4e86\u53d1\u5c55\u7684\u53ef\u80fd\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span><strong>\u53c2\u8003\u6587\u732e\uff5cReferences<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Topchiy, Irina, et al. &#8220;GABA System as the Cause and Effect in <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Development&#8221;. <em>Neuroscience &amp; Biobehavioral Reviews<\/em>, vol. 161, Jun. 2024, p. 105651.<a href=\"https:\/\/doi.org\/10.1016\/j.neubiorev.2024.105651\"> https:\/\/doi.org\/10.1016\/j.neubiorev.2024.105651<\/a>.<br><\/li>\n\n\n\n<li>Bruni, Oliviero, et al. &#8220;Herbal Remedies and Their Possible Effect on the GABAergic System and Sleep&#8221;. <em>Nutrients<\/em>, vol. 13, no. 2, Feb. 2021, p. 530.<a href=\"https:\/\/doi.org\/10.3390\/nu13020530\"> https:\/\/doi.org\/10.3390\/nu13020530<\/a>.<br><\/li>\n\n\n\n<li>Tang, X., Jaenisch, R. &amp; Sur, M. &#8220;The role of GABAergic signalling in neurodevelopmental disorders&#8221;. <em>Nat Rev Neurosci<\/em> 22, 290\u2013307 (2021).<a href=\"https:\/\/doi.org\/10.1038\/s41583-021-00443-x\"> https:\/\/doi.org\/10.1038\/s41583-021-00443-x<\/a>.<br><\/li>\n\n\n\n<li>Zhao, Haisheng, et al. &#8220;GABAergic System Dysfunction in Autism Spectrum Disorders&#8221;. <em>Frontiers in Cell and Developmental Biology<\/em>, vol. 9, Feb. 2022, p. 781327.<a href=\"https:\/\/doi.org\/10.3389\/fcell.2021.781327\"> https:\/\/doi.org\/10.3389\/fcell.2021.781327<\/a>.<br><\/li>\n\n\n\n<li>Cherubini, Enrico, et al. &#8220;Dysregulation of GABAergic Signaling in Neurodevelopmental Disorders: Targeting Cation-Chloride Co-Transporters to Re-Establish a Proper E\/I Balance&#8221;. <em>Frontiers in Cellular Neuroscience<\/em>, vol. 15, Jan. 2022, p. 813441.<a href=\"https:\/\/doi.org\/10.3389\/fncel.2021.813441\"> https:\/\/doi.org\/10.3389\/fncel.2021.813441<\/a>.<br><\/li>\n\n\n\n<li>Ferranti, Anthony S., et al. &#8220;Novel Pharmacological Targets for GABAergic Dysfunction in <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>&#8221;. <em>Neuropharmacology<\/em>, vol. 249, May 2024, p. 109897.<a href=\"https:\/\/doi.org\/10.1016\/j.neuropharm.2024.109897\"> https:\/\/doi.org\/10.1016\/j.neuropharm.2024.109897<\/a>.<br><\/li>\n\n\n\n<li>Giniatullin, Rashid, and Enrico Cherubini. &#8220;Gabaergic Signalling in Autism Spectrum Disorders (ASD): Role of Glial Cells and Therapeutic Perspectives&#8221;. <em>Brain, Behavior, and Immunity<\/em>, vol. 129, Oct. 2025, pp. 681\u201389.<a href=\"https:\/\/doi.org\/10.1016\/j.bbi.2025.07.003\"> https:\/\/doi.org\/10.1016\/j.bbi.2025.07.003<\/a>.<br><\/li>\n\n\n\n<li>Peerboom, Carlijn, and Corette J. Wierenga. &#8220;The Postnatal GABA Shift: A Developmental Perspective&#8221;. <em>Neuroscience &amp; Biobehavioral Reviews<\/em>, vol. 124, May 2021, pp. 179\u201392.<a href=\"https:\/\/doi.org\/10.1016\/j.neubiorev.2021.01.024\"> https:\/\/doi.org\/10.1016\/j.neubiorev.2021.01.024<\/a>.<br><\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%AF%E8%AF%AD%E8%A7%A3%E9%87%8A%EF%BD%9CHelpful_Terms\"><\/span><strong>\u672f\u8bed\u89e3\u91ca\uff5cHelpful Terms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NKCC1\uff08SLC12A2\uff09<\/strong><strong><br><\/strong> \u5c06Cl\u207b\u8fd0\u5165\u795e\u7ecf\u7ec6\u80de\u7684\u8f6c\u8fd0\u4f53\uff0c\u80ce\u513f\u53ca\u65b0\u751f\u513f\u671f\u5927\u91cf\u8868\u8fbe\uff0c\u4f7fGABA\u5728\u8be5\u9636\u6bb5\u5448\u5174\u594b\u6027\u3002<\/p>\n\n\n\n<p><strong>\u81ea\u95ed\u8c31\u7cfb\u969c\u788d\uff08Autism Spectrum Disorder, ASD\uff09<\/strong><strong><br><\/strong> \u4e00\u79cd\u795e\u7ecf\u53d1\u80b2\u6a21\u5f0f\u4e0d\u540c\u7684\u72b6\u6001\uff0c\u793e\u4f1a\u4ea4\u5f80\u3001\u611f\u5b98\u5904\u7406\u3001\u5174\u8da3\u6216\u884c\u4e3a\u6a21\u5f0f\u6709\u663e\u8457\u5dee\u5f02\u3002\u75c7\u72b6\u8868\u73b0\u548c\u7a0b\u5ea6\u5dee\u5f02\u6781\u5927\uff0c\u667a\u529b\u6c34\u5e73\u53ca\u8bed\u8a00\u80fd\u529b\u8303\u56f4\u5e7f\u6cdb\u3002<br><\/p>\n\n\n\n<p><strong>\u795e\u7ecf\u53d1\u80b2\u969c\u788d\uff08Neurodevelopmental Disorder\uff09<\/strong><strong><br><\/strong> \u6d89\u53ca\u8111\u53d1\u80b2\u8fc7\u7a0b\u5f02\u5e38\u7684\u4e00\u7c7b\u75be\u75c5\uff0c\u5305\u62ecASD\u3001\u6ce8\u610f\u7f3a\u9677\u591a\u52a8\u969c\u788d\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001\u667a\u529b\u53d1\u80b2\u969c\u788d\u7b49\uff0c\u7531\u9057\u4f20\u3001\u73af\u5883\u53ca\u5176\u4ed6\u591a\u79cd\u56e0\u7d20\u5171\u540c\u4f5c\u7528\u3002<br><\/p>\n\n\n\n<p><strong>GABA\uff08\u03b3-\u6c28\u57fa\u4e01\u9178\uff0cGamma-Amino Butyric Acid\uff09<\/strong><strong><br><\/strong> \u4e00\u79cd\u8ba9\u795e\u7ecf\u6d3b\u52a8\u5b89\u5b9a\u7684\u6291\u5236\u6027\u795e\u7ecf\u9012\u8d28\u3002\u5728\u513f\u7ae5\u65e9\u671f\u53d1\u80b2\u4e2d\u4f1a\u6682\u65f6\u5177\u6709\u5174\u594b\u4f5c\u7528\uff0c\u968f\u7740\u6210\u957f\u8f6c\u53d8\u4e3a\u6291\u5236\u529f\u80fd\u3002<br><\/p>\n\n\n\n<p><strong>\u6291\u5236\u6027\u795e\u7ecf\u9012\u8d28\uff08Inhibitory Neurotransmitter\uff09<\/strong><strong><br><\/strong> \u6291\u5236\u795e\u7ecf\u6d3b\u52a8\u7684\u5316\u5b66\u7269\u8d28\uff0cGABA\u662f\u5178\u578b\u4ee3\u8868\uff0c\u53ef\u9632\u6b62\u8fc7\u5ea6\u5174\u594b\uff0c\u7ef4\u6301\u5927\u8111\u5e73\u8861\u3002<br><\/p>\n\n\n\n<p><strong>\u5174\u594b\u2014\u6291\u5236\u5e73\u8861\uff08Excitation\/Inhibition Balance, E\/I\u5e73\u8861\uff09<\/strong><strong><br><\/strong> \u6307\u795e\u7ecf\u6d3b\u52a8\u5174\u594b\u4e0e\u6291\u5236\u7684\u52a8\u6001\u5e73\u8861\u3002\u5931\u8861\u4f1a\u5bfc\u81f4\u611f\u5b98\u8fc7\u654f\u3001\u7761\u7720\u7d0a\u4e71\u6216\u6613\u53d1\u751f\u766b\u75eb\u3002<br><\/p>\n\n\n\n<p><strong>GABA\u6781\u6027\u8f6c\u6362\uff08GABA Polarity Shift\uff09<\/strong><strong><br><\/strong> GABA\u4f5c\u7528\u968f\u53d1\u80b2\u4ece\u5174\u594b\u6027\u8f6c\u4e3a\u6291\u5236\u6027\u7684\u8fc7\u7a0b\u3002\u82e5\u65f6\u673a\u5ef6\u8fdf\u6216\u8f6c\u6362\u5f02\u5e38\uff0c\u4f1a\u5f71\u54cd\u795e\u7ecf\u56de\u8def\u7684\u5f62\u6210\u4e0e\u53d1\u80b2\u8868\u73b0\u3002<br><\/p>\n\n\n\n<p><strong>\u6c2f\u79bb\u5b50\u8f6c\u8fd0\u4f53\uff08Chloride Transporter\uff09<\/strong><strong><br><\/strong> \u8c03\u63a7\u795e\u7ecf\u7ec6\u80de\u5185\u5916Cl\u207b\u6d53\u5ea6\u7684\u86cb\u767d\u3002KCC2\u8d1f\u8d23Cl\u207b\u5916\u6392\uff0cNKCC1\u8d1f\u8d23Cl\u207b\u8f93\u5165\uff0c\u76f4\u63a5\u53c2\u4e0eGABA\u6781\u6027\u8f6c\u6362\u3002<br><\/p>\n\n\n\n<p><strong>KCC2\uff08SLC12A5\uff09<\/strong><strong><br><\/strong> \u5c06Cl\u207b\u6392\u51fa\u795e\u7ecf\u7ec6\u80de\u7684\u8f6c\u8fd0\u4f53\uff0c\u968f\u53d1\u80b2\u589e\u52a0\uff0c\u662fGABA\u8f6c\u5411\u6291\u5236\u529f\u80fd\u6240\u5fc5\u9700\u7684\u3002<br><\/p>\n\n\n\n<!-- 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