{"id":111461,"date":"2025-07-17T14:34:35","date_gmt":"2025-07-17T05:34:35","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/"},"modified":"2025-10-16T10:27:27","modified_gmt":"2025-10-16T01:27:27","slug":"autism-spectrum-disorder-genetics","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans","title":{"rendered":"\u81ea\u95ed\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u4e0e\u9057\u4f20\u673a\u5236\uff5c\u75c7\u72b6\u3001\u8bca\u65ad\u4e0e\u652f\u6301\u7684\u5168\u9762\u7406\u89e3"},"content":{"rendered":"\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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#1_%E8%AF%A6%E7%BB%86%E9%97%AE%E8%AF%8A%E4%B8%8E%E5%8F%91%E8%82%B2%E5%8F%B2%E9%87%87%E9%9B%86\" >1. \u8be6\u7ec6\u95ee\u8bca\u4e0e\u53d1\u80b2\u53f2\u91c7\u96c6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#2_%E4%B8%93%E4%B8%9A%E8%A1%8C%E4%B8%BA%E8%A7%82%E5%AF%9F%E4%B8%8E%E4%BD%93%E6%A0%BC%E8%AF%84%E4%BC%B0\" >2. \u4e13\u4e1a\u884c\u4e3a\u89c2\u5bdf\u4e0e\u4f53\u683c\u8bc4\u4f30<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#3_%E6%A0%87%E5%87%86%E5%8C%96%E8%AF%8A%E6%96%AD%E5%B7%A5%E5%85%B7\" >3. \u6807\u51c6\u5316\u8bca\u65ad\u5de5\u5177<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#4_%E8%AE%A4%E7%9F%A5%E3%80%81%E8%AF%AD%E8%A8%80%E4%B8%8E%E9%80%82%E5%BA%94%E8%A1%8C%E4%B8%BA%E8%AF%84%E4%BC%B0\" >4. \u8ba4\u77e5\u3001\u8bed\u8a00\u4e0e\u9002\u5e94\u884c\u4e3a\u8bc4\u4f30<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-34\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#5_%E5%85%B1%E7%97%85%E7%AD%9B%E6%9F%A5\" >5. \u5171\u75c5\u7b5b\u67e5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-35\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E8%AF%8A%E6%96%AD%E6%97%B6%E9%97%B4\" >\u8bca\u65ad\u65f6\u95f4<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-36\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E9%89%B4%E5%88%AB%E8%AF%8A%E6%96%AD%EF%BD%9CDifferential_Diagnosis\" >\u9274\u522b\u8bca\u65ad\uff5cDifferential Diagnosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-37\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E4%B8%8E%E6%94%AF%E6%8C%81%EF%BD%9CTreatment_Management\" >\u6cbb\u7597\u4e0e\u652f\u6301\uff5cTreatment &amp; Management<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-38\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E8%A1%8C%E4%B8%BA%E7%96%97%E6%B3%95%E4%B8%8E%E6%95%99%E8%82%B2%E5%B9%B2%E9%A2%84%EF%BD%9CBehavioral_and_Educational_Interventions\" >\u884c\u4e3a\u7597\u6cd5\u4e0e\u6559\u80b2\u5e72\u9884\uff5cBehavioral and Educational Interventions<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-39\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E8%8D%AF%E7%89%A9%E6%B2%BB%E7%96%97%EF%BD%9CPharmacological_Management\" >\u836f\u7269\u6cbb\u7597\uff5cPharmacological Management<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-40\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E6%96%B0%E5%85%B4%E4%B8%8E%E5%AE%9E%E9%AA%8C%E6%80%A7%E6%B2%BB%E7%96%97%EF%BD%9CNovel_and_Experimental_Therapies\" >\u65b0\u5174\u4e0e\u5b9e\u9a8c\u6027\u6cbb\u7597\uff5cNovel and Experimental Therapies<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-41\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E%EF%BD%9CPrognosis\" >\u9884\u540e\uff5cPrognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-42\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E7%94%9F%E6%B6%AF%E8%A7%86%E8%A7%92%EF%BD%9CLifespan_Considerations\" >\u751f\u6daf\u89c6\u89d2\uff5cLifespan Considerations<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-43\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E5%A9%B4%E5%B9%BC%E5%84%BF%E6%9C%9F\" >\u5a74\u5e7c\u513f\u671f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-44\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E5%AD%A6%E9%BE%84%E6%9C%9F\" >\u5b66\u9f84\u671f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-45\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E9%9D%92%E6%98%A5%E6%9C%9F\" >\u9752\u6625\u671f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-46\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E6%88%90%E5%B9%B4%E6%9C%9F\" >\u6210\u5e74\u671f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-47\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E8%80%81%E5%B9%B4%E6%9C%9F\" >\u8001\u5e74\u671f<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-48\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/?lang=zh-hans\/#%E6%80%BB%E7%BB%93%EF%BD%9CSummary\" >\u603b\u7ed3\uff5cSummary<\/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%E8%A6%81%E6%80%BB%E7%BB%93\"><\/span>\n  \u7b80\u8981\u603b\u7ed3\n<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #333;\">\n    \u81ea\u95ed\u8c31\u7cfb\u969c\u788d\uff08Autism Spectrum Disorder\uff1aASD\uff09\u662f\u4e00\u79cd\u4e0e\u795e\u7ecf\u53d1\u80b2\u76f8\u5173\u7684\u7279\u8d28\uff0c\u8868\u73b0\u4e3a\u5728\u4eba\u9645\u4ea4\u5f80\u65b9\u5f0f\u548c\u611f\u5b98\u611f\u77e5\u65b9\u9762\u5177\u6709\u72ec\u7279\u6027\u3002\u6bcf\u4e2a\u4eba\u7684\u75c7\u72b6\u8868\u73b0\u4ee5\u53ca\u4f18\u52bf\u4e0e\u6311\u6218\u90fd\u4e0d\u5c3d\u76f8\u540c\u3002\n  <\/p>\n  <p style=\"margin: 1rem 0 0; font-size: 1rem; color: #333;\">\n    \u7814\u7a76\u8868\u660e\uff0cASD\u4e0e\u5148\u5929\u7684\u9057\u4f20\u56e0\u7d20\u6709\u5173\uff0c\u90e8\u5206\u60c5\u51b5\u4e0b\u6d89\u53caSHANK3\u3001CHD8\u3001MECP2\u7b49\u57fa\u56e0\u3002\u4e0d\u8fc7\uff0c\u8fd9\u5e76\u4e0d\u9002\u7528\u4e8e\u6240\u6709\u4eba\uff0c\u73af\u5883\u56e0\u7d20\u4e0e\u9057\u4f20\u56e0\u7d20\u7684\u76f8\u4e92\u4f5c\u7528\u4e5f\u88ab\u8ba4\u4e3a\u662f\u91cd\u8981\u5f71\u54cd\u56e0\u7d20\u3002\n  <\/p>\n<p style=\"margin: 1rem 0 0; font-size: 1rem; color: #333;\">\n  \u672c\u6587\u4ee5\u901a\u4fd7\u6613\u61c2\u7684\u65b9\u5f0f\uff0c\u8be6\u7ec6\u4ecb\u7ecd\u4e86\u81ea\u95ed\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u7684\u75c7\u72b6\u3001\u8bca\u65ad\u6d41\u7a0b\u3001\u652f\u6301\u65b9\u6cd5\u4ee5\u53ca\u672a\u6765\u5c55\u671b\u3002\u5e0c\u671b\u8fd9\u7bc7\u5185\u5bb9\u80fd\u591f\u5e2e\u52a9\u5bb6\u5ead\u6210\u5458\u548c\u76f8\u5173\u652f\u6301\u4eba\u5458\uff0c\u5e26\u6765\u4e00\u4efd\u5b89\u5fc3\uff0c\u5e76\u4e3a\u6bcf\u4f4d\u4e2a\u4f53\u521b\u9020\u4e00\u4e2a\u66f4\u8212\u9002\u3001\u66f4\u9002\u5408\u7684\u65e5\u5e38\u751f\u6d3b\u63d0\u4f9b\u652f\u6301\u3002\n<\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%BF%B0%EF%BD%9COverview\"><\/span><strong>\u6982\u8ff0\uff5cOverview<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u81ea\u95ed\u8c31\u7cfb\u969c\u788d\uff08Autism Spectrum Disorder\uff1aASD\uff09\u662f\u4e00\u79cd\u7ec8\u8eab\u6027\u7684\u795e\u7ecf\u53d1\u80b2\u969c\u788d\uff0c\u5176\u5b9a\u4e49\u5305\u62ec\u4e24\u5927\u6838\u5fc3\u7279\u5f81\uff1a\u300c\u5728\u793e\u4f1a\u6c9f\u901a\u4e0e\u4eba\u9645\u4ea4\u5f80\u4e2d\u6301\u7eed\u5b58\u5728\u7684\u56f0\u96be\u300d\u4ee5\u53ca\u300c\u5728\u884c\u4e3a\u3001\u5174\u8da3\u6216\u611f\u5b98\u4f53\u9a8c\u4e0a\u7684\u5c40\u9650\u6027\u4e0e\u91cd\u590d\u6027\u300d\u3002<br>ASD \u7684\u8868\u73b0\u6781\u4e3a\u591a\u6837\uff0c\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u3001\u8868\u73b0\u7c7b\u578b\uff0c\u4ee5\u53ca\u662f\u5426\u4f34\u968f\u5176\u4ed6\u75be\u75c5\uff0c\u90fd\u4f1a\u5bfc\u81f4\u663e\u8457\u7684\u4e2a\u4f53\u5dee\u5f02\u3002\u56e0\u6b64\uff0c\u5b69\u5b50\u7684\u53d1\u80b2\u72b6\u6001\u4e0e\u65e5\u5e38\u56f0\u6270\uff0c\u4e0d\u4e00\u5b9a\u4e0e\u5176\u4ed6\u4eba\u5b8c\u5168\u76f8\u540c\u3002<\/p>\n\n\n\n<p>\u8fd9\u4e00\u75be\u75c5\u6982\u5ff5\u6700\u65e9\u7531 20 \u4e16\u7eaa 40 \u5e74\u4ee3\u7684\u7cbe\u795e\u79d1\u533b\u751f <strong>Leo Kanner \u535a\u58eb<\/strong>\u4e0e <strong>Hans Asperger \u535a\u58eb<\/strong>\u5206\u522b\u4ee5\u4e0d\u540c\u7684\u7c7b\u578b\u7279\u5f81\u63cf\u8ff0\uff0c\u4f46\u5728\u73b0\u4ee3\u533b\u5b66\u4e2d\uff0cASD \u88ab\u7406\u89e3\u4e3a\u4e00\u4e2a\u66f4\u5e7f\u6cdb\u7684\u8fde\u7eed\u4f53\uff08\u8c31\u7cfb\uff09\u3002\u8fd9\u4e00\u6574\u5408\u6027\u89c2\u70b9\u5728 2013 \u5e74\u7f8e\u56fd\u7cbe\u795e\u533b\u5b66\u4f1a\u53d1\u5e03\u7684 <strong>DSM-5<\/strong>\uff08\u300a\u7cbe\u795e\u969c\u788d\u8bca\u65ad\u4e0e\u7edf\u8ba1\u624b\u518c\u300b\u7b2c\u4e94\u7248\uff09\u53ca\u4e16\u754c\u536b\u751f\u7ec4\u7ec7\u7684 <strong>ICD-11<\/strong> \u4e2d\u88ab\u6b63\u5f0f\u91c7\u7eb3\u3002\u56e0\u6b64\uff0c\u539f\u672c\u4f5c\u4e3a\u5355\u72ec\u8bca\u65ad\u7684\u300c\u963f\u65af\u4f2f\u683c\u7efc\u5408\u5f81\uff08Asperger Syndrome\uff09\u300d\u3001\u300c\u5b64\u72ec\u75c7\u969c\u788d\uff08Autistic Disorder\uff09\u300d\u3001\u300c\u672a\u7279\u5b9a\u5e7f\u6cdb\u6027\u53d1\u80b2\u969c\u788d\uff08PDD-NOS\uff09\u300d\u7b49\uff0c\u90fd\u88ab\u7edf\u4e00\u7eb3\u5165\u4e86 ASD \u8fd9\u4e00\u7efc\u5408\u672f\u8bed\u4e2d\u3002<\/p>\n\n\n\n<p>ASD \u88ab\u8ba4\u4e3a\u5177\u6709\u5f88\u5f3a\u7684\u9057\u4f20\u80cc\u666f\uff0c\u662f\u9057\u4f20\u7387\u6700\u9ad8\u7684\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u4e4b\u4e00\u3002\u9664\u4e86\u5c11\u89c1\u7684\u7a00\u6709\u57fa\u56e0\u53d8\u5f02\uff08rare variants\uff09\u4e0e\u5e38\u89c1\u7684\u57fa\u56e0\u591a\u6001\u6027\uff08common variants\uff09\uff0c\u5b55\u671f\u73af\u5883\u56e0\u7d20\u3001\u4ee5\u53ca\u8c03\u63a7\u57fa\u56e0\u8868\u8fbe\u7684 <strong>\u8868\u89c2\u9057\u4f20\u5b66\uff08epigenetics\uff09<\/strong> \u673a\u5236\u7b49\u975e\u9057\u4f20\u56e0\u7d20\uff0c\u4e5f\u4f1a\u590d\u6742\u5730\u76f8\u4e92\u4f5c\u7528\uff0c\u5f71\u54cd ASD \u7684\u53d1\u751f\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u6765\uff0c\u968f\u7740\u8bca\u65ad\u6280\u672f\u7684\u8fdb\u6b65\uff0c\u4ee5\u53ca\u793e\u4f1a\u548c\u533b\u7597\u9886\u57df\u8ba4\u77e5\u7684\u63d0\u9ad8\uff0c\u88ab\u8bca\u65ad\u4e3a ASD \u7684\u4eba\u6570\u663e\u8457\u589e\u52a0\u3002\u4f46\u73b0\u5b9e\u4e2d\uff0c\u5728\u8bb8\u591a\u56fd\u5bb6\u548c\u4eba\u7fa4\u4e2d\uff0cASD \u4ecd\u672a\u88ab\u5145\u5206\u8bc6\u522b\u548c\u8bca\u65ad\uff0c\u5c24\u5176\u662f\u5728\u5973\u6027\u3001\u6210\u4eba\uff0c\u4ee5\u53ca\u5c11\u6570\u65cf\u88d4\u7fa4\u4f53\u4e2d\uff0cASD \u5f80\u5f80\u5bb9\u6613\u88ab\u5ffd\u89c6\u6216\u8bef\u8bca\u3002<\/p>\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>ASD \u7684\u5168\u7403\u60a3\u75c5\u7387\uff08\u5373\u67d0\u4e00\u7fa4\u4f53\u5728\u7279\u5b9a\u65f6\u95f4\u70b9\u7684\u6bd4\u4f8b\uff09\u56e0\u5730\u533a\u3001\u8bca\u65ad\u6807\u51c6\u53ca\u533b\u7597\u53ef\u53ca\u6027\u4e0d\u540c\u800c\u6709\u6240\u5dee\u5f02\u3002\u57fa\u4e8e\u8d85\u8fc7 120 \u4e07\u4eba\u7684\u7efc\u5408\u6027\u835f\u8403\u5206\u6790\uff08meta-analysis\uff09\u663e\u793a\uff0c\u5168\u7403\u603b\u4f53\u60a3\u75c5\u7387\u7ea6\u4e3a <strong>0.72%<\/strong>\u3002\u7136\u800c\uff0c\u82e5\u4ec5\u8ba1\u7b97 2015 \u81f3 2019 \u5e74\u671f\u95f4\u9ad8\u6536\u5165\u56fd\u5bb6\u7684\u6570\u636e\uff0c\u60a3\u75c5\u7387\u4f30\u8ba1\u53ef\u8fbe <strong>1.18%<\/strong>\u3002<\/p>\n\n\n\n<p>ASD \u7684\u6027\u522b\u5dee\u5f02\u5341\u5206\u663e\u8457\uff0c\u591a\u6570\u7814\u7a76\u8868\u660e\uff0c\u7537\u6027\u7684\u60a3\u75c5\u7387\u7ea6\u4e3a\u5973\u6027\u7684 <strong>4 \u500d<\/strong>\u3002\u4f46\u8fd9\u4e00\u6bd4\u4f8b\u4f1a\u968f\u7c7b\u578b\u4e0d\u540c\u800c\u53d8\u5316\uff0c\u4f8b\u5982\u963f\u65af\u4f2f\u683c\u7efc\u5408\u5f81\u7684\u6027\u522b\u6bd4\u4f8b\u751a\u81f3\u53ef\u9ad8\u8fbe <strong>9:1<\/strong>\u3002\u8fd9\u79cd\u5dee\u5f02\u90e8\u5206\u539f\u56e0\u5728\u4e8e\u5973\u6027\u7684\u75c7\u72b6\u5f80\u5f80\u4e0d\u591f\u660e\u663e\uff0c\u6216\u56e0\u4e3a\u503e\u5411\u4e8e\u4f7f\u7528\u300c\u4f2a\u88c5\uff08camouflaging\uff09\u300d\u7b56\u7565\u2014\u2014\u6a21\u4eff\u4ed6\u4eba\u884c\u4e3a\uff0c\u4f7f\u75c7\u72b6\u88ab\u63a9\u76d6\uff0c\u4ece\u800c\u4e0d\u6613\u88ab\u8bc6\u522b\u3002<\/p>\n\n\n\n<p>\u8fc7\u53bb\u51e0\u5341\u5e74\uff0cASD \u7684\u62a5\u544a\u6570\u91cf\u663e\u8457\u589e\u52a0\u3002\u6839\u636e\u7f8e\u56fd\u75be\u75c5\u63a7\u5236\u4e0e\u9884\u9632\u4e2d\u5fc3\uff08CDC\uff09\u7684\u76d1\u6d4b\u6570\u636e\uff0c2000 \u5e74\u6bcf 1000 \u540d\u51fa\u751f\u4eba\u53e3\u4e2d\u6709 <strong>6.7<\/strong> \u4eba\u88ab\u62a5\u544a\u4e3a ASD\uff0c\u800c 2018 \u5e74\u8fd9\u4e00\u6570\u5b57\u4e0a\u5347\u81f3 <strong>23.0<\/strong>\uff0c\u589e\u5e45\u7ea6 <strong>243%<\/strong>\u3002\u4e0d\u8fc7\uff0c\u8fd9\u79cd\u4e0a\u5347\u66f4\u591a\u53cd\u6620\u7684\u662f\u7b5b\u67e5\u6280\u672f\u7684\u63d0\u5347\u3001\u8bca\u65ad\u6807\u51c6\u7684\u6269\u5927\u4ee5\u53ca\u793e\u4f1a\u8ba4\u77e5\u7684\u63d0\u9ad8\uff0c\u800c\u975e\u5b9e\u9645\u60a3\u75c5\u4eba\u6570\u7684\u5927\u5e45\u589e\u957f\u3002<\/p>\n\n\n\n<p>\u4e0d\u540c\u5730\u533a\u7684\u60a3\u75c5\u7387\u5982\u4e0b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5317\u7f8e\uff1a\u7ea6 <strong>1.01%<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li>\u6b27\u6d32\uff1a\u7ea6 <strong>0.73%<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li>\u4e9a\u6d32\uff1a\u7ea6 <strong>0.41%<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li>\u6fb3\u5927\u5229\u4e9a\uff1a\u6700\u9ad8\u53ef\u8fbe <strong>1.7%<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li>\u975e\u6d32\uff1a\u8d44\u6599\u6709\u9650\uff0c\u7ed3\u679c\u5dee\u5f02\u8f83\u5927<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u79cd\u533a\u57df\u5dee\u5f02\u5f80\u5f80\u53cd\u6620\u4e86\u8bca\u65ad\u4f53\u7cfb\u3001\u533b\u7597\u57fa\u7840\u8bbe\u65bd\u548c\u79d1\u7814\u6295\u5165\u4e0a\u7684\u5dee\u5f02\uff0c\u5c24\u5176\u662f\u5728\u4f4e\u6536\u5165\u5730\u533a\uff0c\u7f3a\u4e4f\u6d41\u884c\u75c5\u5b66\u7814\u7a76\u662f\u4e00\u4e2a\u4e25\u91cd\u7684\u95ee\u9898\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%9A%9C%E7%A2%8D%E7%89%B9%E5%BE%81%EF%BD%9CDisorder\"><\/span><strong>\u969c\u788d\u7279\u5f81\uff5cDisorder<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>ASD\uff08\u81ea\u95ed\u8c31\u7cfb\u969c\u788d\uff09\u88ab\u5f52\u7c7b\u4e3a<strong>\u795e\u7ecf\u53d1\u80b2\u969c\u788d\uff08neurodevelopmental disorder\uff09<\/strong>\uff0c\u901a\u5e38\u5728 3 \u5c81\u4ee5\u524d\u7684\u5e7c\u513f\u671f\u5c31\u5f00\u59cb\u663e\u73b0\u7279\u5f81\u3002\u8bca\u65ad\u65f6\u7684\u524d\u63d0\u6761\u4ef6\u662f\uff0c\u8fd9\u4e9b\u7279\u5f81\u5fc5\u987b\u5bf9\u65e5\u5e38\u751f\u6d3b\u9020\u6210\u660e\u663e\u7684\u56f0\u96be\uff0c\u4e14\u4e0d\u80fd\u4ec5\u7528\u667a\u529b\u969c\u788d\uff08intellectual disability\uff09<strong>\u6216<\/strong>\u5168\u9762\u6027\u53d1\u80b2\u8fdf\u7f13\uff08global developmental delay\uff09\u6765\u89e3\u91ca\u3002<\/p>\n\n\n\n<p>ASD \u5927\u81f4\u53ef\u4ee5\u5206\u4e3a\u4e24\u7c7b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c7\u5019\u6027 ASD\uff08syndromic ASD\uff09<\/strong><strong><br><\/strong> \u7531\u7279\u5b9a\u57fa\u56e0\u53d8\u5f02\u5bfc\u81f4\uff0c\u4f8b\u5982\u8106\u6027 X \u7efc\u5408\u5f81\uff08Fragile X syndrome\uff09\u6216 Rett \u7efc\u5408\u5f81\uff08Rett syndrome\uff09\u3002\u8fd9\u7c7b\u60c5\u51b5\u4e2d\uff0c\u57fa\u56e0\u578b\u4e0e\u8868\u578b\u4e4b\u95f4\u7684\u5173\u7cfb\u6709\u65f6\u6bd4\u8f83\u660e\u786e\uff0c\u4f46\u5728\u6240\u6709 ASD \u60a3\u8005\u4e2d\u53ea\u5360\u5c11\u6570\u3002<br><\/li>\n\n\n\n<li><strong>\u7279\u53d1\u6027 ASD\uff08idiopathic ASD\uff09<\/strong><strong><br><\/strong> \u5177\u4f53\u539f\u56e0\u5c1a\u672a\u660e\u786e\u7684\u5927\u591a\u6570\u75c5\u4f8b\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>ASD \u7684\u4e00\u4e2a\u663e\u8457\u7279\u70b9\u662f<strong>\u9ad8\u5ea6\u7684\u4e34\u5e8a\u4e0e\u751f\u7269\u5b66\u5f02\u8d28\u6027\uff08heterogeneity\uff09<\/strong>\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5728\u667a\u529b\u80fd\u529b\u65b9\u9762\uff0cASD \u60a3\u8005\u7684\u5206\u5e03\u8303\u56f4\u975e\u5e38\u5e7f\uff0c\u4ece\u4e25\u91cd\u667a\u529b\u969c\u788d\u5230\u9ad8\u4e8e\u5e73\u5747\u6c34\u5e73\u7684\u667a\u529b\u90fd\u6709\u3002<br><\/li>\n\n\n\n<li>\u5728\u8bed\u8a00\u80fd\u529b\u65b9\u9762\uff0c\u6709\u7684\u4eba\u51e0\u4e4e\u4e0d\u4f7f\u7528\u8bed\u8a00\uff0c\u800c\u6709\u7684\u4eba\u5219\u80fd\u6d41\u7545\u4ea4\u6d41\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u6b64\u5916\uff0cASD \u5e38\u4f34\u968f\u5176\u4ed6\u591a\u79cd\u53d1\u80b2\u969c\u788d\u3001\u7cbe\u795e\u969c\u788d\u3001\u795e\u7ecf\u6027\u75be\u75c5\u6216\u8eab\u4f53\u75be\u75c5\u3002\u8fd9\u4e9b\u5171\u75c5\uff08comorbidities\uff09\u7684\u5b58\u5728\uff0c\u4e0d\u4ec5\u4f1a\u589e\u52a0\u8bca\u65ad\u96be\u5ea6\uff0c\u8fd8\u4f1a\u663e\u8457\u5f71\u54cd\u53d1\u80b2\u7684\u957f\u671f\u8f68\u8ff9\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%B8%E5%85%B3%E5%9F%BA%E5%9B%A0%E7%BB%84%E5%8C%BA%E5%9F%9F%EF%BD%9CImplicated_Genomic_Region\"><\/span><strong>\u76f8\u5173\u57fa\u56e0\u7ec4\u533a\u57df\uff5cImplicated Genomic Region<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>ASD \u662f\u76ee\u524d\u5df2\u77e5<strong>\u9057\u4f20\u7ed3\u6784\u6700\u590d\u6742\u3001\u9057\u4f20\u7387\u6700\u9ad8<\/strong>\u7684\u5e38\u89c1\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u4e4b\u4e00\u3002<br>\u53cc\u751f\u5b50\u4e0e\u5bb6\u7cfb\u7814\u7a76\u4f30\u8ba1\uff0cASD \u7684\u9057\u4f20\u7387\uff08heritability\uff09\u5728 <strong>52% \u5230 90%<\/strong> \u4e4b\u95f4\uff0c\u4e0d\u540c\u4e2a\u4f53\u7684\u9057\u4f20\u80cc\u666f\u5b58\u5728\u5de8\u5927\u5dee\u5f02\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A8%80%E6%9C%89%E5%9F%BA%E5%9B%A0%E5%8F%98%E5%BC%82%EF%BC%88Rare_Variants%EF%BC%89\"><\/span><strong>\u7a00\u6709\u57fa\u56e0\u53d8\u5f02\uff08Rare Variants\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u5728\u90e8\u5206 ASD \u4e2a\u4f53\u4e2d\uff0c\u53ef\u4ee5\u68c0\u6d4b\u5230\u4e00\u79cd\u79f0\u4e3a <strong>de novo\uff08\u65b0\u751f\uff09\u53d8\u5f02<\/strong> \u7684\u57fa\u56e0\u5f02\u5e38\uff0c\u5373\u7236\u6bcd\u6ca1\u6709\u643a\u5e26\uff0c\u800c\u662f\u5728\u53d7\u7cbe\u540e\u65b0\u4ea7\u751f\u7684\u53d8\u5f02\u3002\u8fd9\u4e9b\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5355\u4e2a\u78b1\u57fa\u7684\u70b9\u7a81\u53d8\uff08point mutations\uff09<br><\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931\u6216\u91cd\u590d\u7684\u7ed3\u6784\u53d8\u5f02\uff0c\u5373<strong>\u62f7\u8d1d\u6570\u53d8\u5f02\uff08Copy Number Variations\uff0cCNVs\uff09<\/strong><strong><br><\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u7c7b\u53d8\u5f02\u66f4\u5bb9\u6613\u51fa\u73b0\u5728\u4ee5\u4e0b\u60c5\u51b5\u4e2d\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f34\u968f\u667a\u529b\u969c\u788d\u7684\u4e2a\u4f53<br><\/li>\n\n\n\n<li>\u4f34\u968f\u766b\u75eb\u53d1\u4f5c\u7684\u4e2a\u4f53<br><\/li>\n\n\n\n<li>\u5bb6\u5ead\u4e2d\u6709\u591a\u4e2a\u5065\u5eb7\u7684\u5144\u5f1f\u59d0\u59b9<br><\/li>\n\n\n\n<li>\u5973\u6027\u4e2a\u4f53<br><\/li>\n<\/ul>\n\n\n\n<p>\u867d\u7136 ASD \u6574\u4f53\u4e0a\u5728\u7537\u6027\u4e2d\u66f4\u5e38\u89c1\uff0c\u4f46\u5973\u6027\u7684\u75c7\u72b6\u5f80\u5f80\u4e0d\u6613\u5bdf\u89c9\uff0c\u4f8b\u5982\u901a\u8fc7\u6240\u8c13\u7684\u300c\u4f2a\u88c5\uff08camouflaging\uff09\u300d\u884c\u4e3a\u63a9\u9970\u56f0\u96be\u3002\u56e0\u6b64\uff0c\u88ab\u8bca\u65ad\u51fa\u7684\u5973\u6027\u60a3\u8005\u4e2d\uff0c\u66f4\u5e38\u89c1\u5230\u9057\u4f20\u5f71\u54cd\u66f4\u5f3a\u70c8\u7684 <strong>\u7a00\u6709\u53d8\u5f02\uff08rare variants\uff09<\/strong>\u3002<\/p>\n\n\n\n<p>\u7ecf\u8fc7\u5927\u91cf\u7814\u7a76\u9a8c\u8bc1\u7684\u9ad8\u53ef\u4fe1\u5ea6 ASD \u76f8\u5173\u57fa\u56e0\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SHANK3\u3001NLGN3\u3001NLGN4<\/strong>\uff1a\u4e0e\u7a81\u89e6\u7ed3\u6784\u548c\u795e\u7ecf\u5143\u8fde\u63a5\u6709\u5173<br><\/li>\n\n\n\n<li><strong>CHD8\u3001MECP2\u3001TBR1<\/strong>\uff1a\u4e0e\u8f6c\u5f55\u8c03\u63a7\u53ca\u67d3\u8272\u8d28\u91cd\u5851\u6709\u5173<br><\/li>\n\n\n\n<li><strong>TSC1\u3001TSC2\u3001PTEN<\/strong>\uff1a\u6d89\u53ca mTOR \u4fe1\u53f7\u901a\u8def\u7684\u7ec6\u80de\u751f\u957f\u548c\u4ee3\u8c22\u8c03\u63a7<br><\/li>\n\n\n\n<li><strong>FMR1\u3001UBE3A<\/strong>\uff1a\u6d89\u53ca\u86cb\u767d\u8d28\u5408\u6210\u4e0e\u964d\u89e3\u7684\u6cdb\u7d20\u5316\u901a\u8def<br><\/li>\n<\/ul>\n\n\n\n<p>\u6b64\u5916\uff0c\u7279\u5b9a\u67d3\u8272\u4f53\u533a\u57df\u7684\u7f3a\u5931\u6216\u91cd\u590d\u4e5f\u4e0e ASD \u76f8\u5173\uff0c\u4f8b\u5982\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>1q21.1<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li><strong>15q11\u201313<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li><strong>16p11.2<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li><strong>22q13.3<\/strong>\uff08\u5305\u542b <strong>SHANK3<\/strong> \u533a\u57df\uff09<br><\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%9A%E5%9B%A0%E5%AD%90%E9%81%97%E4%BC%A0%E9%A3%8E%E9%99%A9%EF%BC%88Common_Polygenic_Risk%EF%BC%89\"><\/span><strong>\u591a\u56e0\u5b50\u9057\u4f20\u98ce\u9669\uff08Common Polygenic Risk\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u5927\u591a\u6570 ASD \u4e2a\u4f53\u7684\u98ce\u9669\u6765\u81ea<strong>\u591a\u57fa\u56e0\u9057\u4f20\u80cc\u666f\uff08polygenic risk\uff09<\/strong>\uff1a\u6570\u5343\u4e2a\u5fae\u5c0f\u7684\u57fa\u56e0\u53d8\u5f02\u7d2f\u79ef\u6548\u5e94\uff0c\u5171\u540c\u589e\u52a0\u60a3\u75c5\u98ce\u9669\u3002\u8fd9\u4e00\u673a\u5236\u901a\u8fc7\u5168\u57fa\u56e0\u7ec4\u5173\u8054\u5206\u6790\uff08GWAS\uff09\u7814\u7a76\u9010\u6e10\u88ab\u63ed\u793a\u3002<\/p>\n\n\n\n<p>\u8fd9\u4e9b\u5e38\u89c1\u7684\u57fa\u56e0\u591a\u6001\u6027\u5355\u72ec\u65e0\u6cd5\u4f5c\u4e3a\u8bca\u65ad\u4f9d\u636e\uff0c\u4f46\u5728\u6574\u4f53\u4e0a\u89e3\u91ca\u4e86\u90e8\u5206 ASD \u6613\u611f\u6027\u3002\u76ee\u524d\uff0c\u79d1\u7814\u754c\u6b63\u5c1d\u8bd5\u5229\u7528\u591a\u57fa\u56e0\u98ce\u9669\u8bc4\u5206\uff08polygenic risk scores\uff09\u8fdb\u884c\u8bca\u65ad\u6216\u9884\u6d4b\uff0c\u4f46\u8ddd\u79bb\u4e34\u5e8a\u5e7f\u6cdb\u5e94\u7528\u4ecd\u9700\u66f4\u591a\u65f6\u95f4\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 \u7684\u5f62\u6210\u5e76\u975e\u7531\u5355\u4e00\u56e0\u7d20\u89e3\u91ca\uff0c\u800c\u662f<strong>\u591a\u91cd\u53d1\u80b2\u6270\u52a8\uff08perturbations\uff09\u53e0\u52a0<\/strong>\u7684\u7ed3\u679c\uff0c\u6700\u7ec8\u5448\u73b0\u51fa\u5171\u540c\u7684\u4e34\u5e8a\u8868\u578b\uff08final common phenotype\uff09\u3002\u5176\u4e3b\u8981\u56e0\u7d20\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9057\u4f20\u56e0\u7d20\uff08genetic factors\uff09<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li><strong>\u795e\u7ecf\u751f\u7269\u5b66\u7279\u6027\uff08neurobiological factors\uff09<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li><strong>\u5b55\u671f\u53ca\u56f4\u4ea7\u671f\u73af\u5883\u56e0\u7d20\uff08environmental factors\uff09<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li><strong>\u8868\u89c2\u9057\u4f20\u8c03\u63a7\u5f02\u5e38\uff08epigenetic dysregulation\uff09<\/strong><strong><br><\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u7814\u7a76\u53d1\u73b0\uff0c\u795e\u7ecf\u5143\u7a81\u89e6\u5f62\u6210\u3001\u5927\u8111\u795e\u7ecf\u7f51\u7edc\u8fde\u63a5\u3001\u7ec6\u80de\u4fe1\u53f7\u4f20\u5bfc\u7b49\u65e9\u671f\u53d1\u80b2\u73af\u8282\u5747\u53d7\u5230\u5f71\u54cd\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%97%E4%BC%A0%E5%AD%A6%E6%9C%BA%E5%88%B6%EF%BC%88Genetic_Etiology%EF%BC%89\"><\/span><strong>\u9057\u4f20\u5b66\u673a\u5236\uff08Genetic Etiology\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>ASD \u7684\u9057\u4f20\u5b66\u80cc\u666f\u591a\u6837\uff0c\u4e3b\u8981\u5305\u62ec\u4e24\u5927\u7c7b\u578b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7a00\u6709 de novo \u53d8\u5f02<\/strong><strong><br><\/strong> \u8fd9\u4e9b\u4e0d\u662f\u4ece\u7236\u6bcd\u9057\u4f20\u800c\u6765\uff0c\u800c\u662f\u5728\u80da\u80ce\u5f62\u6210\u540e\u51fa\u73b0\u7684\u65b0\u7a81\u53d8\u3002\u4f8b\u5982\uff1a<br>\n<ul class=\"wp-block-list\">\n<li><strong>SHANK3\u3001NRXN1\u3001NLGN3<\/strong>\uff1a\u7a81\u89e6\u5f62\u6210\u76f8\u5173\u57fa\u56e0<br><\/li>\n\n\n\n<li><strong>CHD8\u3001MECP2<\/strong>\uff1a\u67d3\u8272\u8d28\u7ed3\u6784\u8c03\u63a7\u57fa\u56e0<br><\/li>\n\n\n\n<li><strong>TBR1\u3001ADNP<\/strong>\uff1a\u8f6c\u5f55\u8c03\u63a7\u57fa\u56e0<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u62f7\u8d1d\u6570\u53d8\u5f02\uff08CNVs\uff09<\/strong><strong><br><\/strong> \u4f8b\u5982 <strong>16p11.2\u300115q11\u201313\u300122q13.3<\/strong> \u7b49\u533a\u57df\uff0c\u5e38\u89c1\u4e8e\u75c7\u72b6\u8f83\u4e25\u91cd\u6216\u75c7\u5019\u6027 ASD \u4e2a\u4f53\u3002<br><\/li>\n\n\n\n<li><strong>\u591a\u57fa\u56e0\u98ce\u9669\uff08Polygenic Risk\uff09<\/strong><strong><br><\/strong> \u6570\u5343\u4e2a\u5e38\u89c1\u53d8\u5f02\u5fae\u5c0f\u7d2f\u79ef\u4f5c\u7528\uff0c\u5171\u540c\u89e3\u91ca\u4e86 ASD \u9057\u4f20\u7387\u7684\u5927\u90e8\u5206\u3002<br>\u7814\u7a76\u663e\u793a\uff0cASD \u7684\u9057\u4f20\u7387\u56e0\u7814\u7a76\u65b9\u6cd5\u548c\u7fa4\u4f53\u4e0d\u540c\u800c\u5728 <strong>52%\u201390%<\/strong> \u8303\u56f4\u5185\u6ce2\u52a8\uff0c\u4f34\u6709\u667a\u529b\u969c\u788d\u6216\u766b\u75eb\u7684\u4e2a\u4f53\u4e2d\uff0c\u9057\u4f20\u56e0\u7d20\u7684\u4f5c\u7528\u66f4\u4e3a\u663e\u8457\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%86%E5%AD%90%E4%B8%8E%E7%BB%86%E8%83%9E%E6%9C%BA%E5%88%B6%EF%BD%9CMolecular_and_Cellular_Mechanisms\"><\/span><strong>\u5206\u5b50\u4e0e\u7ec6\u80de\u673a\u5236\uff5cMolecular and Cellular Mechanisms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u7814\u7a76\u8868\u660e\uff0cASD \u60a3\u8005\u5728\u795e\u7ecf\u7ec6\u80de\u7684\u751f\u957f\u3001\u8fde\u63a5\u4ee5\u53ca\u4fe1\u606f\u4f20\u9012\u8fc7\u7a0b\u4e2d\uff0c<strong>\u7ec6\u80de\u5185\u4fe1\u53f7\u901a\u8def\uff08intracellular signaling pathways\uff09<\/strong> \u5b58\u5728\u5f02\u5e38\u3002\u4ee5\u4e0b\u662f\u76ee\u524d\u7814\u7a76\u4e2d\u91cd\u70b9\u5173\u6ce8\u7684\u4e3b\u8981\u901a\u8def\uff1a<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"PI3K%E2%80%93AKT%E2%80%93mTOR_%E9%80%9A%E8%B7%AF_%E4%B8%8E_Ras%E2%80%93MAPK_%E9%80%9A%E8%B7%AF\"><\/span><strong>PI3K\u2013AKT\u2013mTOR \u901a\u8def \u4e0e Ras\u2013MAPK \u901a\u8def<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u8fd9\u4e24\u6761\u901a\u8def\u5728<strong>\u7a81\u89e6\u7684\u751f\u957f\u3001\u4fee\u526a\uff08pruning\uff09\u548c\u53ef\u5851\u6027\uff08plasticity\uff09\u4e2d\u8d77\u5173\u952e\u8c03\u63a7\u4f5c\u7528\u3002<\/strong><strong><br><\/strong><strong> \u90e8\u5206 ASD \u4e2a\u4f53\u4e2d\uff0c\u8fd9\u4e9b\u901a\u8def\u5448\u73b0\u8fc7\u5ea6\u6fc0\u6d3b\uff08hyperactivation\uff09<\/strong>\uff0c\u5bfc\u81f4\u795e\u7ecf\u7ec6\u80de\u5174\u594b\u4e0e\u6291\u5236\u7684\u5e73\u8861\uff08E\/I balance\uff09\u5931\u8c03\uff0c\u8fd8\u53ef\u80fd\u4e0e\u5934\u56f4\u589e\u5927\uff08macrocephaly\uff09\u7b49\u7279\u5f81\u76f8\u5173\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Wnt%CE%B2-%E8%BF%9E%E7%8E%AF%E8%9B%8B%E7%99%BD%E9%80%9A%E8%B7%AF%EF%BC%88Wnt%CE%B2-catenin_signaling%EF%BC%89\"><\/span><strong>Wnt\/\u03b2-\u8fde\u73af\u86cb\u767d\u901a\u8def\uff08Wnt\/\u03b2-catenin signaling\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Wnt\/\u03b2-catenin \u901a\u8def\u4e0e\u795e\u7ecf\u524d\u4f53\u7ec6\u80de\uff08neural progenitor cells\uff09<strong>\u7684\u589e\u6b96\uff0c\u4ee5\u53ca<\/strong>\u5927\u8111\u76ae\u5c42\u6a21\u5f0f\u5f62\u6210\uff08cortical patterning\uff09\u5bc6\u5207\u76f8\u5173\uff0c\u5728\u8111\u90e8\u65e9\u671f\u7ed3\u6784\u53d1\u80b2\u4e2d\u626e\u6f14\u91cd\u8981\u89d2\u8272\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"GABA_%E4%BD%9C%E5%8A%A8%E6%80%A7%E4%B8%8E%E8%B0%B7%E6%B0%A8%E9%85%B8%E4%BD%9C%E5%8A%A8%E6%80%A7%E4%BF%A1%E5%8F%B7%EF%BC%88GABAergic_and_Glutamatergic_Signaling%EF%BC%89\"><\/span><strong>GABA \u4f5c\u52a8\u6027\u4e0e\u8c37\u6c28\u9178\u4f5c\u52a8\u6027\u4fe1\u53f7\uff08GABAergic and Glutamatergic Signaling\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u5927\u8111\u795e\u7ecf\u5143\u901a\u8fc7\u5174\u594b\uff08excitatory\uff09\u4e0e\u6291\u5236\uff08inhibitory\uff09\u7684\u52a8\u6001\u5e73\u8861\u7ef4\u6301\u6b63\u5e38\u529f\u80fd\u3002\u5f53\u8fd9\u79cd\u5e73\u8861\u88ab\u6253\u7834\uff0c\u8111\u7535\u6d3b\u52a8\u6a21\u5f0f\u548c\u611f\u89c9\u5904\u7406\u673a\u5236\u90fd\u4f1a\u6539\u53d8\uff0c\u8868\u73b0\u4e3a\u5bf9\u611f\u5b98\u523a\u6fc0\u7684\u8fc7\u654f\u6216\u8fdf\u949d\uff0c\u4f8b\u5982\u5bf9\u566a\u97f3\u3001\u5149\u7ebf\u6216\u89e6\u611f\u7684\u5f02\u5e38\u53cd\u5e94\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A1%A8%E8%A7%82%E9%81%97%E4%BC%A0%E8%B0%83%E6%8E%A7%E5%BC%82%E5%B8%B8%EF%BC%88Epigenetic_Dysregulation%EF%BC%89\"><\/span><strong>\u8868\u89c2\u9057\u4f20\u8c03\u63a7\u5f02\u5e38\uff08Epigenetic Dysregulation\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u90e8\u5206 ASD \u4e2a\u4f53\u5b58\u5728 <strong>DNA \u7532\u57fa\u5316\uff08DNA methylation\uff09<\/strong>\u3001\u7ec4\u86cb\u767d\u4fee\u9970\uff08histone modification\uff09\u6216 <strong>\u975e\u7f16\u7801 RNA\uff08non-coding RNA\uff09<\/strong> \u7684\u5f02\u5e38\u3002<br>\u4f8b\u5982\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MECP2\u3001UBE3A<\/strong>\uff1a\u53c2\u4e0e DNA \u7532\u57fa\u5316\u6216\u6cdb\u7d20\u5316\u901a\u8def<br><\/li>\n\n\n\n<li><strong>CHD8\u3001KDM5C<\/strong>\uff1a\u8c03\u8282\u67d3\u8272\u8d28\u7ed3\u6784<br><\/li>\n\n\n\n<li><strong>miR-132\u3001BC1<\/strong>\uff1a\u4f5c\u4e3a\u975e\u7f16\u7801 RNA\uff0c\u5f71\u54cd\u53d1\u80b2\u671f\u57fa\u56e0\u8868\u8fbe<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u6539\u53d8\u5f80\u5f80\u5728\u8111\u53d1\u80b2\u7684\u5173\u952e\u65f6\u6bb5\u5f71\u54cd\u795e\u7ecf\u7ec6\u80de\u529f\u80fd\uff0c\u540c\u65f6\u53ef\u80fd\u4e0e\u73af\u5883\u56e0\u7d20\u76f8\u4e92\u4f5c\u7528\uff0c\u5f62\u6210 ASD \u75c7\u72b6\u591a\u6837\u6027\u7684\u5206\u5b50\u57fa\u7840\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%8E%AF%E5%A2%83%E4%B8%8E%E5%9B%B4%E4%BA%A7%E6%9C%9F%E9%A3%8E%E9%99%A9%E5%9B%A0%E7%B4%A0%EF%BD%9CEnvironmental_and_Perinatal_Risk_Factors\"><\/span><strong>\u73af\u5883\u4e0e\u56f4\u4ea7\u671f\u98ce\u9669\u56e0\u7d20\uff5cEnvironmental and Perinatal Risk Factors<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u867d\u7136\u9057\u4f20\u56e0\u7d20\u5728 ASD \u7684\u53d1\u75c5\u4e2d\u5360\u636e\u4e3b\u5bfc\uff0c\u4f46<strong>\u5b55\u671f\u4e0e\u56f4\u4ea7\u671f\u7684\u73af\u5883\u56e0\u7d20<\/strong>\u4e5f\u88ab\u53d1\u73b0\u53ef\u80fd\u4f1a\u589e\u52a0\u60a3\u75c5\u98ce\u9669\u3002\u4e0d\u8fc7\uff0c\u5355\u4e00\u73af\u5883\u56e0\u7d20\u4e0d\u4f1a\u76f4\u63a5\u5bfc\u81f4 ASD\uff0c\u5fc5\u987b\u5728\u5b58\u5728\u9057\u4f20\u6613\u611f\u6027\u7684\u57fa\u7840\u4e0a\u53e0\u52a0\uff0c\u624d\u53ef\u80fd\u89e6\u53d1\u53d1\u75c5\u3002<\/p>\n\n\n\n<p>\u5e38\u89c1\u7684\u73af\u5883\u98ce\u9669\u56e0\u7d20\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u9f84\u7236\u6bcd<\/strong>\uff1a\u7236\u6bcd\u53cc\u65b9\u5e74\u9f84\u504f\u9ad8\u65f6\uff0c\u98ce\u9669\u6709\u8f7b\u5fae\u4e0a\u5347\u8d8b\u52bf\u3002<br><\/li>\n\n\n\n<li><strong>\u5b55\u671f\u63a5\u89e6\u4e19\u620a\u9178\uff08valproic acid\uff09<\/strong>\uff1a\u8fd9\u662f\u4e00\u79cd\u6297\u766b\u75eb\u836f\uff0c\u7814\u7a76\u63d0\u793a\u5176\u5bf9\u80ce\u513f\u795e\u7ecf\u53d1\u80b2\u6709\u5f71\u54cd\u3002<br><\/li>\n\n\n\n<li><strong>\u5b55\u671f\u6bcd\u4f53\u514d\u75ab\u6fc0\u6d3b\uff08maternal immune activation\uff09<\/strong>\uff1a\u5982\u5b55\u671f\u514d\u75ab\u7cfb\u7edf\u5f3a\u70c8\u53cd\u5e94\u3001\u708e\u75c7\u56e0\u5b50\uff08IL-6\u3001IL-17 \u7b49\uff09\u5347\u9ad8\uff0c\u53ef\u80fd\u5f71\u54cd\u80ce\u513f\u7684\u5927\u8111\u53d1\u80b2\u3002<br><\/li>\n\n\n\n<li><strong>\u598a\u5a20\u671f\u7cd6\u5c3f\u75c5\u6216\u6bcd\u4f53\u80a5\u80d6<\/strong>\uff1a\u6539\u53d8\u80ce\u513f\u7684\u4ee3\u8c22\u73af\u5883\uff0c\u589e\u52a0 ASD \u98ce\u9669\u3002<br><\/li>\n\n\n\n<li><strong>\u65e9\u4ea7\u6216\u56f4\u4ea7\u671f\u5e76\u53d1\u75c7<\/strong>\uff1a\u5927\u8111\u5feb\u901f\u53d1\u80b2\u671f\u82e5\u53d7\u5e72\u6270\uff0c\u98ce\u9669\u968f\u4e4b\u5347\u9ad8\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u56e0\u7d20\u82e5\u540c\u65f6\u5b58\u5728\uff0c\u4f1a\u53e0\u52a0\u5f71\u54cd\uff0c\u8fdb\u4e00\u6b65\u52a0\u91cd\u5177\u6709\u9057\u4f20\u6613\u611f\u6027\u80ce\u513f\u7684\u795e\u7ecf\u53d1\u80b2\u538b\u529b\u3002<\/p>\n\n\n\n<p><strong>\u91cd\u8981\u63d0\u9192<\/strong>\uff1a<br>\u6ca1\u6709\u79d1\u5b66\u8bc1\u636e\u652f\u6301\u201c\u75ab\u82d7\u4f1a\u5bfc\u81f4 ASD\u201d\u7684\u8bf4\u6cd5\u3002\u5c24\u5176\u662f\u9488\u5bf9 \u9ebb\u75b9-\u816e\u817a\u708e-\u98ce\u75b9\u8054\u5408\u75ab\u82d7\uff08MMR \u75ab\u82d7\uff09\u7684\u8d28\u7591\uff0c\u5df2\u88ab\u591a\u9879\u5927\u89c4\u6a21\u7814\u7a76\u5f7b\u5e95\u5426\u5b9a\u3002\u4e3a\u5b69\u5b50\u6309\u65f6\u63a5\u79cd\u75ab\u82d7\uff0c\u4f9d\u7136\u662f\u786e\u4fdd\u5065\u5eb7\u548c\u5b89\u5168\u7684\u5173\u952e\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>ASD \u7684\u8bca\u65ad\u6807\u51c6\u4e3b\u8981\u4f9d\u636e <strong>DSM-5<\/strong> \u6240\u5b9a\u4e49\u7684\u4e24\u5927\u6838\u5fc3\u7279\u5f81\uff1a<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A4%BE%E4%BC%9A%E6%B2%9F%E9%80%9A%E4%B8%8E%E4%BA%BA%E9%99%85%E4%BA%A4%E5%BE%80%E5%9B%B0%E9%9A%BE\"><\/span><strong>\u793e\u4f1a\u6c9f\u901a\u4e0e\u4eba\u9645\u4ea4\u5f80\u56f0\u96be<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u8868\u73b0\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f1a\u8bdd\u3001\u773c\u795e\u4ea4\u6d41\u7b49\u4e92\u52a8\u6c9f\u901a\u56f0\u96be<br><\/li>\n\n\n\n<li>\u4e0d\u6613\u4e0e\u4ed6\u4eba\u5206\u4eab\u5174\u8da3\u3001\u60c5\u611f\u6216\u4f53\u9a8c<br><\/li>\n\n\n\n<li>\u96be\u4ee5\u7406\u89e3\u80a2\u4f53\u8bed\u8a00\u3001\u76ee\u5149\u7b49\u975e\u8bed\u8a00\u4fe1\u53f7<br><\/li>\n\n\n\n<li>\u96be\u4ee5\u5efa\u7acb\u540c\u9f84\u53cb\u8c0a\u6216\u7ef4\u6301\u6b63\u5e38\u4eba\u9645\u5173\u7cfb<br><\/li>\n<\/ul>\n\n\n\n<p>\u4f8b\u5982\uff0c\u5b69\u5b50\u4e0d\u64c5\u957f\u89e3\u8bfb\u4ed6\u4eba\u8868\u60c5\uff0c\u6216\u66f4\u559c\u6b22\u72ec\u81ea\u73a9\u800d\u800c\u975e\u7fa4\u4f53\u6d3b\u52a8\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B1%80%E9%99%90%E6%80%A7%E3%80%81%E9%87%8D%E5%A4%8D%E6%80%A7%E7%9A%84%E8%A1%8C%E4%B8%BA%E3%80%81%E5%85%B4%E8%B6%A3%E6%88%96%E6%84%9F%E5%AE%98%E4%BD%93%E9%AA%8C\"><\/span><strong>\u5c40\u9650\u6027\u3001\u91cd\u590d\u6027\u7684\u884c\u4e3a\u3001\u5174\u8da3\u6216\u611f\u5b98\u4f53\u9a8c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u8868\u73b0\u5305\u62ec\uff08\u81f3\u5c11\u6ee1\u8db3\u4e24\u9879\uff09\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u56fa\u5b9a\u52a8\u4f5c\u6216\u8bed\u8a00\uff0c\u5982\u6325\u624b\u3001\u91cd\u590d\u76f8\u540c\u8bcd\u53e5\uff08\u4eff\u8bf4\uff09<br><\/li>\n\n\n\n<li>\u5bf9\u65e5\u5e38\u89c4\u5f8b\u3001\u7269\u54c1\u6446\u653e\u6709\u5f3a\u70c8\u6267\u5ff5<br><\/li>\n\n\n\n<li>\u5bf9\u7279\u5b9a\u5174\u8da3\u9ad8\u5ea6\u4e13\u6ce8\uff0c\u5982\u706b\u8f66\u7f16\u53f7\u3001\u6570\u5b57\u3001\u5b57\u6bcd\u7b49<br><\/li>\n\n\n\n<li>\u611f\u89c9\u53cd\u5e94\u5f02\u5e38\uff0c\u5982\u5bf9\u75bc\u75db\u4e0d\u654f\u611f\u3001\u6781\u5ea6\u6392\u65a5\u67d0\u4e9b\u58f0\u97f3\u6216\u89e6\u611f\uff0c\u6216\u5bf9\u5149\u7ebf\u6709\u8fc7\u5ea6\u5173\u6ce8<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u7279\u5f81\u591a\u5728\u5a74\u5e7c\u513f\u671f\u5c31\u51fa\u73b0\uff0c\u4f46\u968f\u7740\u5e74\u9f84\u589e\u957f\u3001\u793e\u4f1a\u8981\u6c42\u589e\u52a0\uff0c\u5f80\u5f80\u53d8\u5f97\u66f4\u4e3a\u660e\u663e\u3002<\/p>\n\n\n\n<p><strong>\u8981\u70b9<\/strong>\uff1a\u8fd9\u4e9b\u884c\u4e3a\u4f53\u73b0\u7684\u662f\u4e2a\u4f53\u7279\u6027\uff0c\u4f46\u5982\u679c\u5f71\u54cd\u65e5\u5e38\u751f\u6d3b\uff0c\u5c31\u9700\u8981\u9002\u5f53\u7684\u652f\u6301\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%B8%E5%85%B3%E4%B8%B4%E5%BA%8A%E7%89%B9%E5%BE%81%E4%B8%8E%E5%85%B1%E7%97%85%EF%BD%9CAssociated_Clinical_Features_and_Comorbidities\"><\/span><strong>\u76f8\u5173\u4e34\u5e8a\u7279\u5f81\u4e0e\u5171\u75c5\uff5cAssociated Clinical Features and Comorbidities<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u81ea\u95ed\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u4e0d\u4ec5\u8868\u73b0\u4e3a\u793e\u4f1a\u4ea4\u5f80\u56f0\u96be\u4e0e\u523b\u677f\u884c\u4e3a\uff0c\u8fd8\u5e38\u4f34\u968f\u591a\u79cd\u533b\u5b66\u4e0e\u53d1\u80b2\u76f8\u5173\u7279\u5f81\u3002\u8fd9\u4e9b\u5171\u75c5\uff08comorbidities\uff09\u53ca\u591a\u6837\u5316\u7684\u4e34\u5e8a\u7279\u5f81\uff0c\u4f7f\u8bca\u65ad\u548c\u652f\u6301\u65b9\u6848\u66f4\u52a0\u590d\u6742\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%99%BA%E5%8A%9B%E9%9A%9C%E7%A2%8D%EF%BC%88Intellectual_Disability%EF%BC%89\"><\/span><strong>\u667a\u529b\u969c\u788d\uff08Intellectual Disability\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u667a\u5546\uff08IQ\uff09\u4f4e\u4e8e 70 \u65f6\u88ab\u89c6\u4e3a\u667a\u529b\u969c\u788d\u3002\u636e\u7edf\u8ba1\uff0c\u7ea6 <strong>35%<\/strong> \u7684 ASD \u4e2a\u4f53\u4f34\u6709\u667a\u529b\u969c\u788d\u3002\u5728\u7ecf\u5178\u7684\u5b64\u72ec\u75c7\uff08Autistic Disorder\uff09\u4e2d\u6bd4\u4f8b\u7ea6\u4e3a <strong>60%<\/strong>\uff0c\u800c\u963f\u65af\u4f2f\u683c\u7efc\u5408\u5f81\uff08Asperger Syndrome\uff09\u4e2d\u4ec5 <strong>3%<\/strong>\u3002\u667a\u529b\u6c34\u5e73\u76f4\u63a5\u5f71\u54cd\u6559\u80b2\u89c4\u5212\u3001\u72ec\u7acb\u751f\u6d3b\u80fd\u529b\u53ca\u957f\u671f\u53d1\u5c55\uff0c\u56e0\u6b64\u7cbe\u786e\u8bc4\u4f30\u975e\u5e38\u91cd\u8981\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AF%AD%E8%A8%80%E5%8F%91%E8%82%B2%E8%BF%9F%E7%BC%93%EF%BC%88Language_Impairment%EF%BC%89\"><\/span><strong>\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\uff08Language Impairment\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>ASD \u4e2a\u4f53\u5728\u8bed\u8a00\u53d1\u80b2\u4e0a\u53ef\u80fd\u9047\u5230\u5404\u79cd\u56f0\u96be\uff0c\u4ece\u5b8c\u5168\u6ca1\u6709\u8bed\u8a00\u7684\u975e\u8bed\u8a00\u578b\uff08nonverbal\uff09\uff0c\u5230\u8bcd\u6c47\u4e30\u5bcc\u4f46\u7f3a\u4e4f\u7406\u89e3\u4ed6\u4eba\u610f\u56fe\u7684\u80fd\u529b\uff0c\u8868\u73b0\u5dee\u5f02\u6781\u5927\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BF%90%E5%8A%A8%E5%8F%91%E8%82%B2%E7%89%B9%E7%82%B9%EF%BC%88Motor_Abnormalities%EF%BC%89\"><\/span><strong>\u8fd0\u52a8\u53d1\u80b2\u7279\u70b9\uff08Motor Abnormalities\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u90e8\u5206 ASD \u4e2a\u4f53\u8868\u73b0\u51fa\u8fd0\u52a8\u65b9\u9762\u7684\u7279\u6b8a\u6027\uff0c\u4f8b\u5982\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8f7b\u5ea6\u808c\u5f20\u529b\u4f4e\u4e0b\uff08hypotonia\uff09<br><\/li>\n\n\n\n<li>\u52a8\u4f5c\u7b28\u62d9\u6216\u534f\u8c03\u6027\u4e0d\u8db3<br><\/li>\n\n\n\n<li>\u624b\u90e8\u7cbe\u7ec6\u52a8\u4f5c\u56f0\u96be<br><\/li>\n\n\n\n<li>\u52a8\u4f5c\u504f\u6162\uff08\u8fd0\u52a8\u8fdf\u7f13\uff0cbradykinesia\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u7279\u5f81\u867d\u7136\u4e0d\u4e00\u5b9a\u4e25\u91cd\uff0c\u4f46\u4f1a\u5f71\u54cd\u65e5\u5e38\u6d3b\u52a8\u4e0e\u5b66\u4e60\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%83%83%E8%82%A0%E9%81%93%E9%97%AE%E9%A2%98%EF%BC%88Gastrointestinal_Dysfunction%EF%BC%89\"><\/span><strong>\u80c3\u80a0\u9053\u95ee\u9898\uff08Gastrointestinal Dysfunction\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u8bb8\u591a\u513f\u7ae5\u4f34\u968f\u6162\u6027\u4fbf\u79d8\u3001\u8179\u6cfb\u6216\u8179\u75db\u3002\u7279\u522b\u662f\u5728\u65e0\u6cd5\u6e05\u695a\u8868\u8fbe\u4e0d\u9002\u7684\u5b69\u5b50\u8eab\u4e0a\uff0c\u8fd9\u7c7b\u95ee\u9898\u5f80\u5f80\u901a\u8fc7\u884c\u4e3a\u53d8\u5316\u88ab\u5bb6\u957f\u6216\u6559\u5e08\u5bdf\u89c9\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9D%A1%E7%9C%A0%E9%9A%9C%E7%A2%8D%EF%BC%88Sleep_Disorders%EF%BC%89\"><\/span><strong>\u7761\u7720\u969c\u788d\uff08Sleep Disorders\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u5165\u7761\u56f0\u96be\u3001\u591c\u95f4\u9891\u7e41\u9192\u6765\u6216\u7761\u7720\u8d28\u91cf\u5dee\u5e38\u89c1\u4e8e ASD \u4e2a\u4f53\u3002\u8fd9\u4e0d\u4ec5\u5f71\u54cd\u884c\u4e3a\u548c\u60c5\u7eea\uff0c\u8fd8\u4f1a\u5bf9\u6574\u4e2a\u5bb6\u5ead\u7684\u751f\u6d3b\u9020\u6210\u8d1f\u62c5\uff0c\u56e0\u6b64\u9700\u8981\u8c28\u614e\u5e72\u9884\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B2%BE%E7%A5%9E%E7%96%BE%E7%97%85%E5%85%B1%E7%97%85%EF%BC%88Psychiatric_Comorbidities%EF%BC%89\"><\/span><strong>\u7cbe\u795e\u75be\u75c5\u5171\u75c5\uff08Psychiatric Comorbidities\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\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<\/strong>\uff1a\u7ea6 <strong>40%<\/strong> \u7684\u513f\u7ae5\u671f ASD \u4e2a\u4f53\u4f34\u968f <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a> \u7279\u5f81\u3002<br><\/li>\n\n\n\n<li><strong>\u7126\u8651\u969c\u788d\uff08Anxiety\uff09<\/strong>\uff1a\u7ea6 <strong>30\u201350%<\/strong> \u7684\u4e2a\u4f53\u5b58\u5728\u7126\u8651\u75c7\u72b6\u3002<br><\/li>\n\n\n\n<li><strong>\u6291\u90c1\uff08Depression\uff09<\/strong>\uff1a\u5c24\u5176\u5728\u9752\u6625\u671f\u548c\u6210\u5e74\u65e9\u671f\u98ce\u9669\u589e\u52a0\u3002<br><\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%AB%E7%97%AB%EF%BC%88Epilepsy%EF%BC%89\"><\/span><strong>\u766b\u75eb\uff08Epilepsy\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u766b\u75eb\u5728 <strong>5%\u201338%<\/strong> \u7684 ASD \u4e2a\u4f53\u4e2d\u88ab\u62a5\u9053\uff0c\u4f34\u968f\u667a\u529b\u969c\u788d\u65f6\u98ce\u9669\u66f4\u9ad8\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%84%9F%E5%AE%98%E5%A4%84%E7%90%86%E5%BC%82%E5%B8%B8%EF%BC%88Sensory_Processing_Anomalies%EF%BC%89\"><\/span><strong>\u611f\u5b98\u5904\u7406\u5f02\u5e38\uff08Sensory Processing Anomalies\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u5bf9\u58f0\u97f3\u3001\u5149\u7ebf\u3001\u89e6\u89c9\u6216\u6c14\u5473\u7684\u8fc7\u5ea6\u654f\u611f\u6216\u8fdf\u949d\u8f83\u4e3a\u5e38\u89c1\u3002\u8fd9\u4e9b\u5dee\u5f02\u5f80\u5f80\u76f4\u63a5\u5f71\u54cd\u996e\u98df\u3001\u7a7f\u8863\u53ca\u5916\u51fa\u7b49\u65e5\u5e38\u6d3b\u52a8\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%80%A7%E5%88%AB%E5%B7%AE%E5%BC%82%E4%B8%8E%E8%AF%8A%E6%96%AD%E5%81%8F%E5%B7%AE%EF%BC%88Sex_Differences%EF%BC%89\"><\/span><strong>\u6027\u522b\u5dee\u5f02\u4e0e\u8bca\u65ad\u504f\u5dee\uff08Sex Differences\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>ASD \u5728\u5973\u6027\u4e2d\u5f80\u5f80\u88ab\u4f4e\u4f30\u3002\u5973\u6027\u901a\u5e38\u91cd\u590d\u884c\u4e3a\u8f83\u5c11\uff0c\u6216\u5177\u5907\u8f83\u5f3a\u7684\u6a21\u4eff\u80fd\u529b\uff0c\u4f7f\u75c7\u72b6\u4e0d\u660e\u663e\uff0c\u4ece\u800c\u5bfc\u81f4\u8bca\u65ad\u5ef6\u8fdf\u6216\u88ab\u5ffd\u7565\u3002<\/p>\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>ASD \u7684\u8bca\u65ad\u4f9d\u8d56\u4e8e\u884c\u4e3a\u89c2\u5bdf\u4e0e\u53d1\u80b2\u53f2\u8bc4\u4f30\u3002\u76ee\u524d\u5c1a\u65e0\u53ef\u901a\u8fc7\u8840\u6db2\u68c0\u67e5\u6216\u8111\u7535\u56fe\u7b49\u65b9\u5f0f\u660e\u786e\u8bca\u65ad ASD \u7684<strong>\u751f\u7269\u6807\u5fd7\u7269\uff08biomarkers\uff09<\/strong>\u3002\u8bca\u65ad\u6d41\u7a0b\u4e3b\u8981\u5305\u62ec\u4ee5\u4e0b\u6b65\u9aa4\uff1a<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%AF%A6%E7%BB%86%E9%97%AE%E8%AF%8A%E4%B8%8E%E5%8F%91%E8%82%B2%E5%8F%B2%E9%87%87%E9%9B%86\"><\/span><strong>1. \u8be6\u7ec6\u95ee\u8bca\u4e0e\u53d1\u80b2\u53f2\u91c7\u96c6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u4e86\u89e3\u4ece\u5a74\u513f\u671f\u81f3\u5f53\u524d\u7684\u53d1\u5c55\u8fc7\u7a0b\uff0c\u4ee5\u53ca\u65e5\u5e38\u884c\u4e3a\u8868\u73b0\uff0c\u5e38\u9700\u5bb6\u957f\u6216\u6559\u5e08\u63d0\u4f9b\u4fe1\u606f\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%93%E4%B8%9A%E8%A1%8C%E4%B8%BA%E8%A7%82%E5%AF%9F%E4%B8%8E%E4%BD%93%E6%A0%BC%E8%AF%84%E4%BC%B0\"><\/span><strong>2. \u4e13\u4e1a\u884c\u4e3a\u89c2\u5bdf\u4e0e\u4f53\u683c\u8bc4\u4f30<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u7531\u53d1\u80b2\u513f\u79d1\u533b\u751f\u3001\u4e34\u5e8a\u5fc3\u7406\u5b66\u5bb6\u6216\u8a00\u8bed\u6cbb\u7597\u5e08\u7b49\u4e13\u4e1a\u4eba\u5458\u76f4\u63a5\u89c2\u5bdf\u4e0e\u8bc4\u4f30\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%A0%87%E5%87%86%E5%8C%96%E8%AF%8A%E6%96%AD%E5%B7%A5%E5%85%B7\"><\/span><strong>3. \u6807\u51c6\u5316\u8bca\u65ad\u5de5\u5177<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ADOS-2\uff08Autism Diagnostic Observation Schedule-2\uff09<\/strong><strong><br><\/strong> \u534a\u7ed3\u6784\u5316\u7684\u4e92\u52a8\u89c2\u5bdf\u6d4b\u8bd5\uff0c\u901a\u8fc7\u6e38\u620f\u6216\u5bf9\u8bdd\u8bc4\u4f30 ASD \u7279\u5f81\u3002<br><\/li>\n\n\n\n<li><strong>ADI-R\uff08Autism Diagnostic Interview-Revised\uff09<\/strong><strong><br><\/strong> \u9762\u5411\u5bb6\u957f\u7684\u8be6\u7ec6\u8bbf\u8c08\u3002<br><\/li>\n\n\n\n<li><strong>CARS\uff08Childhood Autism Rating Scale\uff09\u4e0e SCQ\uff08Social Communication Questionnaire\uff09<\/strong><strong><br><\/strong> \u7528\u4e8e\u7b5b\u67e5\u7684\u6e05\u5355\u5de5\u5177\u3002<br><\/li>\n\n\n\n<li><strong>M-CHAT\uff08Modified Checklist for Autism in Toddlers\uff09<\/strong><strong><br><\/strong> \u9488\u5bf9 18\u201324 \u4e2a\u6708\u5e7c\u513f\u7684\u65e9\u671f\u7b5b\u67e5\u5de5\u5177\u3002<br><\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%AE%A4%E7%9F%A5%E3%80%81%E8%AF%AD%E8%A8%80%E4%B8%8E%E9%80%82%E5%BA%94%E8%A1%8C%E4%B8%BA%E8%AF%84%E4%BC%B0\"><\/span><strong>4. \u8ba4\u77e5\u3001\u8bed\u8a00\u4e0e\u9002\u5e94\u884c\u4e3a\u8bc4\u4f30<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u5168\u9762\u4e86\u89e3\u667a\u529b\u6c34\u5e73\u3001\u8bed\u8a00\u80fd\u529b\u53ca\u65e5\u5e38\u9002\u5e94\u80fd\u529b\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E5%85%B1%E7%97%85%E7%AD%9B%E6%9F%A5\"><\/span><strong>5. \u5171\u75c5\u7b5b\u67e5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u786e\u8ba4\u662f\u5426\u5b58\u5728\u766b\u75eb\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\u3001\u6d88\u5316\u7cfb\u7edf\u95ee\u9898\u6216\u5176\u4ed6\u9700\u8981\u989d\u5916\u652f\u6301\u7684\u72b6\u51b5\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AF%8A%E6%96%AD%E6%97%B6%E9%97%B4\"><\/span><strong>\u8bca\u65ad\u65f6\u95f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u53ef\u9760\u7684\u8bca\u65ad\u901a\u5e38\u53ef\u5728 <strong>24 \u4e2a\u6708<\/strong> \u540e\u8fdb\u884c\uff0c\u4f46\u73b0\u5b9e\u4e2d\u5e38\u5ef6\u8fdf\u81f3 <strong>4\u20135 \u5c81<\/strong>\u3002<br>\u8bed\u8a00\u6216\u667a\u529b\u53d1\u5c55\u65e0\u660e\u663e\u8fdf\u7f13\u7684\u4e2a\u4f53\uff08\u5982\u963f\u65af\u4f2f\u683c\u578b\uff09\u5e38\u5728\u9752\u6625\u671f\u6216\u6210\u5e74\u540e\u624d\u786e\u8bca\u3002\u5973\u6027\u8bca\u65ad\u5ef6\u8fdf\u7684\u60c5\u51b5\u66f4\u4e3a\u5e38\u89c1\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%89%B4%E5%88%AB%E8%AF%8A%E6%96%AD%EF%BD%9CDifferential_Diagnosis\"><\/span><strong>\u9274\u522b\u8bca\u65ad\uff5cDifferential Diagnosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u7531\u4e8e ASD \u75c7\u72b6\u590d\u6742\u591a\u6837\uff0c\u9700\u8981\u4ed4\u7ec6\u6392\u67e5\u53ef\u80fd\u4e0e ASD \u76f8\u4f3c\u4f46\u672c\u8d28\u4e0d\u540c\u7684\u60c5\u51b5\uff0c\u79f0\u4e3a<strong>\u9274\u522b\u8bca\u65ad<\/strong>\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5355\u7eaf\u667a\u529b\u969c\u788d<\/strong>\uff1a\u6709\u53d1\u80b2\u8fdf\u7f13\u4f46\u4ecd\u8868\u73b0\u51fa\u81ea\u7136\u7684\u793e\u4ea4\u5174\u8da3\u3002<br><\/li>\n\n\n\n<li><strong>\u793e\u4f1a\u6027\uff08\u8bed\u7528\u5b66\uff09\u6c9f\u901a\u969c\u788d<\/strong>\uff1a\u4e3b\u8981\u4e3a\u8bed\u8a00\u4f7f\u7528\u56f0\u96be\uff0c\u65e0\u523b\u677f\u884c\u4e3a\u6216\u611f\u5b98\u5f02\u5e38\u3002<br><\/li>\n\n\n\n<li><strong>\u8bed\u8a00\u969c\u788d<\/strong>\uff1a\u8868\u73b0\u4e3a\u8bed\u8a00\u7406\u89e3\u6216\u8868\u8fbe\u56f0\u96be\uff0c\u5e38\u5728\u65e9\u671f\u88ab\u8bef\u89e3\u4e3a ASD\u3002<br><\/li>\n\n\n\n<li><strong>\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<\/strong>\uff1a\u6ce8\u610f\u529b\u5206\u6563\u4e0e\u591a\u52a8\u53ef\u4e0e ASD \u6df7\u6dc6\uff0c\u4e14\u4e24\u8005\u5e38\u5171\u5b58\u3002<br><\/li>\n\n\n\n<li><strong>\u513f\u7ae5\u671f\u53d1\u75c5\u7cbe\u795e\u5206\u88c2\u75c7<\/strong>\uff1a\u6781\u5c11\u89c1\uff0c\u4f46\u6709\u65f6\u4f1a\u51fa\u73b0\u7c7b\u4f3c ASD \u7684\u793e\u4ea4\u9000\u7f29\u6216\u5e7b\u60f3\u6c89\u6d78\u3002<br><\/li>\n\n\n\n<li><strong>\u611f\u5b98\u5904\u7406\u969c\u788d<\/strong>\uff1a\u867d\u6709\u611f\u5b98\u654f\u611f\u6216\u8fdf\u949d\uff0c\u4f46\u4e0d\u4f34\u968f ASD \u6838\u5fc3\u793e\u4ea4\u7f3a\u9677\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u5f53\u51fa\u73b0\u8bed\u8a00\u6216\u8fd0\u52a8\u6280\u80fd\u9000\u5316\u3001\u766b\u75eb\u53d1\u4f5c\u6216\u660e\u663e\u7684\u8eab\u4f53\u7279\u5f81\u5dee\u5f02\u65f6\uff0c\u9700\u8fdb\u4e00\u6b65\u8fdb\u884c\u795e\u7ecf\u5b66\u4e0e\u9057\u4f20\u5b66\u8bc4\u4f30\uff0c\u5982\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\uff08CMA\uff09\u6216\u5168\u5916\u663e\u5b50\u6d4b\u5e8f\uff08WES\uff09\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E6%94%AF%E6%8C%81%EF%BD%9CTreatment_Management\"><\/span><strong>\u6cbb\u7597\u4e0e\u652f\u6301\uff5cTreatment &amp; Management<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u81ea\u95ed\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u662f\u4e00\u79cd\u8d2f\u7a7f\u4e00\u751f\u7684\u7279\u6027\uff0c\u4f46\u73b0\u4eca\u5df2\u6709\u591a\u79cd\u6210\u719f\u7684\u6cbb\u7597\u4e0e\u652f\u6301\u65b9\u6cd5\uff0c\u53ef\u4ee5\u663e\u8457\u6539\u5584\u751f\u6d3b\u8d28\u91cf\uff08QOL\uff09\u548c\u72ec\u7acb\u6027\u3002\u4ee5\u4e0b\u8be6\u7ec6\u4ecb\u7ecd\u76ee\u524d\u5e7f\u6cdb\u5e94\u7528\u7684\u652f\u6301\u7b56\u7565\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A1%8C%E4%B8%BA%E7%96%97%E6%B3%95%E4%B8%8E%E6%95%99%E8%82%B2%E5%B9%B2%E9%A2%84%EF%BD%9CBehavioral_and_Educational_Interventions\"><\/span><strong>\u884c\u4e3a\u7597\u6cd5\u4e0e\u6559\u80b2\u5e72\u9884\uff5cBehavioral and Educational Interventions<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>ASD \u652f\u6301\u7684\u6838\u5fc3\u662f<strong>\u884c\u4e3a\u7597\u6cd5<\/strong>\u548c<strong>\u6559\u80b2\u6027\u5e72\u9884<\/strong>\u3002\u5c24\u5176\u662f\u5728\u5e7c\u513f\u671f\u5f00\u5c55<strong>\u65e9\u671f\u4e14\u9ad8\u5f3a\u5ea6<\/strong>\u7684\u5e72\u9884\uff0c\u53ef\u4ee5\u663e\u8457\u4fc3\u8fdb\u793e\u4f1a\u6027\u3001\u8bed\u8a00\u80fd\u529b\u4ee5\u53ca\u9002\u5e94\u884c\u4e3a\u7684\u53d1\u5c55\u3002\u8fd9\u4e00\u70b9\u5df2\u88ab\u5927\u91cf\u56fd\u5185\u5916\u7814\u7a76\u8bc1\u5b9e\u3002<\/p>\n\n\n\n<p><strong>\u5e94\u7528\u884c\u4e3a\u5206\u6790\uff08ABA\uff1aApplied Behavior Analysis\uff09<\/strong><strong><br><\/strong> ABA \u57fa\u4e8e\u884c\u4e3a\u79d1\u5b66\u539f\u7406\uff0c\u4ed4\u7ec6\u89c2\u5bdf\u884c\u4e3a\u4f55\u65f6\u3001\u5982\u4f55\u53d1\u751f\uff0c\u901a\u8fc7\u79ef\u6781\u5f3a\u5316\uff0c\u589e\u52a0\u671f\u671b\u884c\u4e3a\uff0c\u51cf\u5c11\u5f15\u53d1\u56f0\u6270\u7684\u884c\u4e3a\u3002<br>\u5176\u4e2d\uff0c\u65e9\u671f\u9ad8\u5f3a\u5ea6\u884c\u4e3a\u5e72\u9884\uff08EIBI\uff1a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Intensive Behavioral Intervention\uff09\u6548\u679c\u5c24\u4e3a\u663e\u8457\uff0c\u82e5\u5728 <strong>5 \u5c81\u524d<\/strong>\u5f00\u5c55\uff0c\u53d1\u5c55\u6f5c\u529b\u5f80\u5f80\u66f4\u5927\u3002<\/p>\n\n\n\n<p><strong>\u53d1\u5c55\u6027\u65b9\u6cd5\uff08Developmental Approaches\uff09<\/strong><strong><br><\/strong> \u4e0d\u540c\u4e8e ABA\uff0c\u53d1\u5c55\u6027\u65b9\u6cd5\u5f3a\u8c03\u81ea\u7136\u4e92\u52a8\u4e0e\u60c5\u611f\u4ea4\u6d41\u3002<br>\u4f8b\u5982\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DIR\/Floortime<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Start Denver Model\uff08ESDM\uff09<\/strong><strong><br><\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u65b9\u6cd5\u901a\u8fc7\u987a\u5e94\u513f\u7ae5\u5174\u8da3\u3001\u8868\u60c5\u4e0e\u80a2\u4f53\u52a8\u4f5c\uff0c\u5728\u6709\u8da3\u7684\u6e38\u620f\u4e0e\u4e92\u52a8\u4e2d\u81ea\u7136\u4fc3\u8fdb\u793e\u4f1a\u6027\u4e0e\u8bed\u8a00\u7684\u53d1\u5c55\u3002<\/p>\n\n\n\n<p><strong>\u8bed\u8a00\u7597\u6cd5\uff08Speech and Language Therapy\uff09<\/strong><strong><br><\/strong> \u4e0d\u4ec5\u8bad\u7ec3\u8bed\u8a00\u8868\u8fbe\uff0c\u8fd8\u6ce8\u91cd\u4ea4\u9645\u80fd\u529b\uff08\u8bed\u7528\u5b66\uff09\uff0c\u5e2e\u52a9\u63d0\u5347\u201c\u5982\u4f55\u8868\u8fbe\u201d\u201c\u5982\u4f55\u7406\u89e3\u201d\u3002<br>\u82e5\u8a00\u8bed\u8868\u8fbe\u6709\u660e\u663e\u56f0\u96be\uff0c\u53ef\u5f15\u5165\u56fe\u7247\u4ea4\u6362\u6c9f\u901a\u7cfb\u7edf\uff08PECS\uff09\u6216\u589e\u5f3a\u66ff\u4ee3\u6c9f\u901a\uff08AAC\uff09\u5de5\u5177\u4f5c\u4e3a\u8f85\u52a9\u3002<\/p>\n\n\n\n<p><strong>\u4f5c\u4e1a\u7597\u6cd5\uff08Occupational Therapy\uff09<\/strong><strong><br><\/strong> \u5e2e\u52a9\u4e2a\u4f53\u66f4\u8212\u9002\u3001\u72ec\u7acb\u5730\u9002\u5e94\u65e5\u5e38\u751f\u6d3b\uff0c\u4f8b\u5982\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8c03\u6574\u611f\u5b98\u8fc7\u654f\u6216\u8fdf\u949d\u7684\u53cd\u5e94\uff08\u611f\u5b98\u7edf\u5408\u8bad\u7ec3\uff09<br><\/li>\n\n\n\n<li>\u8bad\u7ec3\u7cbe\u7ec6\u52a8\u4f5c\uff08\u5982\u4f7f\u7528\u9910\u5177\u3001\u4e66\u5199\uff09<br><\/li>\n\n\n\n<li>\u652f\u6301\u7a7f\u8863\u3001\u996e\u98df\u3001\u6574\u7406\u7b49\u751f\u6d3b\u6280\u80fd<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u793e\u4ea4\u6280\u80fd\u8bad\u7ec3\uff08Social Skills Training, SST\uff09<\/strong><strong><br><\/strong> \u901a\u8fc7\u4e2a\u522b\u6216\u56e2\u4f53\u8bad\u7ec3\uff0c\u63d0\u5347\u4eba\u9645\u4e92\u52a8\u6280\u5de7\uff0c\u4f8b\u5982\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u89e3\u4ed6\u4eba\u611f\u53d7<br><\/li>\n\n\n\n<li>\u8f6e\u6d41\u7b49\u5f85<br><\/li>\n\n\n\n<li>\u5b66\u4f1a\u62d2\u7edd\u6216\u8bf7\u6c42\u5e2e\u52a9<br><\/li>\n<\/ul>\n\n\n\n<p>\u7279\u522b\u9002\u7528\u4e8e\u5b66\u9f84\u671f\u81f3\u9752\u6625\u671f\u7684\u7fa4\u4f53\u3002<\/p>\n\n\n\n<p><strong>\u5bb6\u5ead\u53c2\u4e0e\u7684\u91cd\u8981\u6027<\/strong><strong><br><\/strong> \u5bb6\u5ead\u5728\u652f\u6301\u8fc7\u7a0b\u4e2d\u7684\u4f5c\u7528\u81f3\u5173\u91cd\u8981\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7236\u6bcd\u5b66\u4e60\u5bb6\u5ead\u5e72\u9884\u6280\u5de7\uff0c\u53ef\u5c06\u7597\u80b2\u7406\u5ff5\u878d\u5165\u65e5\u5e38\u751f\u6d3b\u3002<br><\/li>\n\n\n\n<li>\u5bb6\u957f\u57f9\u8bad\uff08Parent Training\uff09\u548c\u4e13\u4e1a\u54a8\u8be2\u53ef\u4e3a\u5bb6\u957f\u63d0\u4f9b\u60c5\u7eea\u4e0e\u7b56\u7565\u652f\u6301\u3002<br><\/li>\n\n\n\n<li>\u957f\u671f\u770b\uff0c\u5bb6\u957f\u7684\u5fc3\u7406\u7a33\u5b9a\u4e5f\u662f\u5e2e\u52a9\u5b69\u5b50\u6210\u957f\u7684\u91cd\u8981\u57fa\u7840\u3002<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%8D%AF%E7%89%A9%E6%B2%BB%E7%96%97%EF%BD%9CPharmacological_Management\"><\/span><strong>\u836f\u7269\u6cbb\u7597\uff5cPharmacological Management<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u76ee\u524d\u6ca1\u6709\u9488\u5bf9 ASD <strong>\u6838\u5fc3\u75c7\u72b6<\/strong>\uff08\u5982\u793e\u4ea4\u6c9f\u901a\u56f0\u96be\u6216\u91cd\u590d\u884c\u4e3a\uff09\u7684\u7279\u6548\u836f\uff0c\u4f46\u836f\u7269\u53ef\u8f85\u52a9\u7f13\u89e3\u4e00\u4e9b\u4f34\u968f\u75c7\u72b6\u6216\u884c\u4e3a\u95ee\u9898\uff0c\u4ece\u800c\u51cf\u8f7b\u65e5\u5e38\u8d1f\u62c5\u3002<\/p>\n\n\n\n<p><strong>\u6124\u6012\u4e0e\u653b\u51fb\u6027<\/strong><strong><br><\/strong> \u90e8\u5206 ASD \u513f\u7ae5\u53ef\u80fd\u6709\u5f3a\u70c8\u60c5\u7eea\u7206\u53d1\u3001\u653b\u51fb\u884c\u4e3a\u6216\u81ea\u4f24\u884c\u4e3a\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5229\u57f9\u916e\uff08risperidone\uff09<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li><strong>\u963f\u7acb\u54cc\u5511\uff08aripiprazole\uff09<\/strong><strong><br><\/strong> \u8fd9\u4e24\u79cd\u836f\u7269\u5df2\u83b7\u7f8e\u56fd FDA \u6279\u51c6\uff0c\u7528\u4e8e\u7f13\u89e3 ASD \u76f8\u5173\u7684\u6613\u6fc0\u60f9\u75c7\u72b6\u3002<br>\u4f7f\u7528\u65f6\u9700\u5728\u533b\u751f\u6307\u5bfc\u4e0b\u7efc\u5408\u8bc4\u4f30\u98ce\u9669\u4e0e\u6536\u76ca\uff0c\u5e76\u6301\u7eed\u89c2\u5bdf\u526f\u4f5c\u7528\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u6ce8\u610f\u7f3a\u9677\u4e0e\u591a\u52a8\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a> \u6837\u75c7\u72b6\uff09<\/strong><strong><br><\/strong> \u4e00\u4e9b ASD \u4e2a\u4f53\u4f34\u968f\u6ce8\u610f\u529b\u5206\u6563\u6216\u591a\u52a8\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u54cc\u7532\u916f\uff08methylphenidate\uff09<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li><strong>\u6258\u83ab\u897f\u6c40\uff08atomoxetine\uff09<\/strong><strong><br><\/strong> \u5e38\u7528\u4e8e <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff0c\u4f46 ASD \u60a3\u8005\u66f4\u6613\u51fa\u73b0\u526f\u4f5c\u7528\uff0c\u5982\u98df\u6b32\u51cf\u9000\u6216\u7126\u8651\u52a0\u91cd\u3002\u56e0\u6b64\u5e94\u4f4e\u5242\u91cf\u8d77\u59cb\uff0c\u5bc6\u5207\u89c2\u5bdf\u53cd\u5e94\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u7126\u8651\u4e0e\u60c5\u7eea\u6ce2\u52a8<\/strong><strong><br><\/strong> \u9752\u6625\u671f\u53ca\u6210\u4eba\u671f\u5e38\u89c1\u7126\u8651\u6216\u6291\u90c1\u75c7\u72b6\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9009\u62e9\u6027\u8840\u6e05\u7d20\u518d\u6444\u53d6\u6291\u5236\u5242\uff08SSRIs\uff09<\/strong>\uff0c\u5982 <strong>\u6c1f\u897f\u6c40\uff08fluoxetine\uff09<\/strong>\uff0c\u5728\u90e8\u5206\u60c5\u51b5\u4e0b\u6709\u52a9\u7f13\u89e3\u75c7\u72b6\uff0c\u4f46\u9700\u5bc6\u5207\u76d1\u6d4b\u53ef\u80fd\u7684\u60c5\u7eea\u4e0d\u7a33\u5b9a\u6216\u8fc7\u5ea6\u5174\u594b\u53cd\u5e94\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u766b\u75eb\u6216\u53d1\u4f5c<\/strong><strong><br><\/strong> \u82e5\u4f34\u6709\u766b\u75eb\uff0c\u6839\u636e\u53d1\u4f5c\u7c7b\u578b\u4f7f\u7528\u76f8\u5e94\u7684\u6297\u766b\u75eb\u836f\u7269\u3002<\/p>\n\n\n\n<p><strong>\u7761\u7720\u969c\u788d<\/strong><strong><br><\/strong> \u5165\u7761\u56f0\u96be\u6216\u591c\u9192\u5e38\u89c1\uff0c\u892a\u9ed1\u7d20\uff08melatonin\uff09\u56e0\u5b89\u5168\u6027\u9ad8\u800c\u88ab\u5e7f\u6cdb\u4f7f\u7528\uff0c\u6709\u52a9\u6539\u5584\u5165\u7761\u548c\u7761\u7720\u8d28\u91cf\u3002<\/p>\n\n\n\n<p>\u836f\u7269\u6cbb\u7597\u53ea\u662f\u8f85\u52a9\u5de5\u5177\uff0c\u9700\u4e0e\u884c\u4e3a\u5e72\u9884\u3001\u6559\u80b2\u652f\u6301\u7ed3\u5408\u4f7f\u7528\uff0c\u4e14\u5e94\u7531\u591a\u5b66\u79d1\u56e2\u961f\uff08\u533b\u751f\u3001\u5fc3\u7406\u5e08\u3001\u6cbb\u7597\u5e08\u7b49\uff09\u5171\u540c\u8bc4\u4f30\u4e0e\u7ba1\u7406\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%96%B0%E5%85%B4%E4%B8%8E%E5%AE%9E%E9%AA%8C%E6%80%A7%E6%B2%BB%E7%96%97%EF%BD%9CNovel_and_Experimental_Therapies\"><\/span><strong>\u65b0\u5174\u4e0e\u5b9e\u9a8c\u6027\u6cbb\u7597\uff5cNovel and Experimental Therapies<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u7814\u7a76\u8005\u6b63\u5c1d\u8bd5\u4ece\u795e\u7ecf\u751f\u7269\u5b66\u673a\u5236\u51fa\u53d1\uff0c\u63a2\u7d22\u65b0\u7684\u5e72\u9884\u65b9\u6cd5\uff0c\u76ee\u524d\u591a\u5904\u4e8e\u7814\u7a76\u6216\u4e34\u5e8a\u8bd5\u9a8c\u9636\u6bb5\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>mTOR \u6291\u5236\u5242\uff08mTOR inhibitors\uff09<\/strong><strong><br><\/strong> \u4f8b\u5982 <strong>\u4f9d\u7ef4\u83ab\u53f8\uff08everolimus\uff09<\/strong>\uff0c\u7528\u4e8e mTOR \u901a\u8def\u8fc7\u5ea6\u6fc0\u6d3b\u7684 ASD \u4e9a\u578b\uff0c\u5c24\u5176\u5728\u4f34\u6709\u7ed3\u8282\u6027\u786c\u5316\u75c7\uff08TSC\uff09\u7684\u60a3\u8005\u4e2d\u5df2\u5f00\u59cb\u4e34\u5e8a\u5e94\u7528\u3002<br><\/li>\n\n\n\n<li><strong>\u50ac\u4ea7\u7d20\u4e0e\u52a0\u538b\u7d20\u7c7b\u4f3c\u7269\uff08Oxytocin and Vasopressin Analogs\uff09<\/strong><strong><br><\/strong> \u50ac\u4ea7\u7d20\u4e0e\u793e\u4ea4\u884c\u4e3a\u76f8\u5173\uff0c\u7814\u7a76\u63a2\u7d22\u5176\u5bf9\u6539\u5584\u793e\u4ea4\u56f0\u96be\u7684\u6548\u679c\uff0c\u4f46\u7ed3\u679c\u5c1a\u4e0d\u4e00\u81f4\u3002<br><\/li>\n\n\n\n<li><strong>\u80a0\u9053\u5fae\u751f\u7269\u76f8\u5173\u7597\u6cd5\uff08Microbiota-Based Therapies\uff09<\/strong><strong><br><\/strong> \u7814\u7a76\u5173\u6ce8\u80a0\u8111\u8f74\u7684\u8054\u7cfb\uff0c\u5305\u62ec\u76ca\u751f\u83cc\uff08probiotics\uff09\u4e0e\u7caa\u83cc\u79fb\u690d\uff08FMT\uff09\uff0c\u4f46\u76ee\u524d\u7f3a\u4e4f\u660e\u786e\u7597\u6548\u8bc1\u636e\u3002<br><\/li>\n\n\n\n<li><strong>\u7ecf\u9885\u523a\u6fc0\u6280\u672f\uff08Neuromodulation Techniques\uff09<\/strong><strong><br><\/strong> \u5305\u62ec<strong>\u7ecf\u9885\u78c1\u523a\u6fc0\uff08TMS\uff09\u548c\u7ecf\u9885\u76f4\u6d41\u523a\u6fc0\uff08tDCS\uff09<\/strong>\uff0c\u521d\u6b65\u663e\u793a\u5bf9\u90e8\u5206\u75c7\u72b6\u6709\u6539\u5584\uff0c\u4f46\u6548\u679c\u4e2a\u4f53\u5dee\u5f02\u5927\uff0c\u4ecd\u5c5e\u5b9e\u9a8c\u6027\u7814\u7a76\u3002<br><\/li>\n\n\n\n<li><strong>\u8868\u89c2\u9057\u4f20\u5b66\u6cbb\u7597\uff08Epigenetic Modulators\uff09<\/strong><strong><br><\/strong> \u4f8b\u5982 <strong>HDAC \u6291\u5236\u5242<\/strong>\u6216 <strong>DNA \u7532\u57fa\u5316\u8c03\u63a7\u836f\u7269<\/strong>\uff0c\u6b63\u5728 Rett 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class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u5e72\u9884\u7684\u5f71\u54cd<\/strong><strong><br><\/strong> 2\uff5e5 \u5c81\u4e4b\u95f4\u63a5\u53d7\u9ad8\u8d28\u91cf\u3001\u5bc6\u96c6\u578b\u5e72\u9884\u7684\u513f\u7ae5\uff0c\u8bed\u8a00\u3001\u793e\u4ea4\u548c\u81ea\u7406\u80fd\u529b\u63d0\u5347\u663e\u8457\u3002<br><\/li>\n\n\n\n<li><strong>\u667a\u529b\u548c\u8bed\u8a00\u53d1\u5c55<\/strong><strong><br><\/strong> \u667a\u529b\u6b63\u5e38\u3001\u8bed\u8a00\u53d1\u5c55\u8f83\u597d\u7684\u5b69\u5b50\uff0c\u901a\u5e38\u5728\u5b66\u4e1a\u548c\u804c\u573a\u4e0a\u66f4\u5177\u72ec\u7acb\u6027\u3002<br><\/li>\n\n\n\n<li><strong>\u9752\u6625\u671f\u6311\u6218<\/strong><strong><br><\/strong> \u9752\u5c11\u5e74\u671f\u793e\u4ea4\u538b\u529b\u589e\u52a0\uff0c\u7126\u8651\u3001\u6291\u90c1\u6216\u81ea\u5c0a\u5fc3\u4f4e\u4e0b\u66f4\u5bb9\u6613\u51fa\u73b0\u3002<br><\/li>\n\n\n\n<li><strong>\u6210\u5e74\u671f<\/strong><strong><br><\/strong> 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