评　估　与　依　据

指南与文献库

本站的每一条事实都标明出处。这里是全站 1823 条出处的总目录，按国家标准与规范、指南与专家共识、研究论文、图书、网页与公开记录分组，年份从新到旧；每条注明被哪些页面引用，可点到原文。

国家标准与规范71

  1. 孤独症儿童康复机构服务质量及评价规范（GB/T 47041—2026）[S]. 国家市场监督管理总局, 国家标准化管理委员会, 2026. (访问于 2026-09-30).引用于：应用行为分析（ABA）、自然发展行为干预（NDBI）
  2. 国家疾病预防控制局, 国家卫生健康委员会. 关于印发国家免疫规划疫苗儿童免疫程序及说明（2026 年版）的通知（国疾控卫免发〔2026〕16 号）[S]. 国家疾病预防控制局, 2026. (访问于 2026-10-07).　2026 年 6 月 17 日印发，正文为通知所附文件。引用于：22q11.2 缺失综合征
  3. 国家卫生健康委员会. 86 个罕见病病种诊疗指南（2025 年版）[S]. 国家卫生健康委员会, 2025. (访问于 2026-09-10).　对应第二批罕见病目录的 86 种病，Rett 综合征为第 72 章。引用于：Rett 综合征、West 综合征、脆性 X 综合征、神经纤维瘤病、CDKL5 缺乏症、异染性脑白质营养不良、软骨发育不全、原发性生长激素缺乏症、儿童罕见病、罕见病政策与保障、发育倒退、语言发育迟缓、癫痫发作、头围增长异常、手部刻板动作、脑性瘫痪的鉴别与病因评估：何时需要进一步检查、孤独症谱系障碍的鉴别与病因评估、全面发育迟缓：病因评估与后续管理、神经发育障碍与癫痫性脑病、术语表
  4. 中国残联, 民政部, 国家卫生健康委. 关于印发《残疾人基本康复服务目录（2025 年版）》的通知[S]. 中国残疾人联合会, 2025. (访问于 2026-10-02).引用于：姿势管理与体位摆放、认知能力训练、日常生活活动能力训练、康复与干预方法
  5. 国家医疗保障局, 人力资源社会保障部. 关于印发《国家基本医疗保险、生育保险和工伤保险药品目录》以及《商业健康保险创新药品目录》（2025 年）的通知（医保发〔2025〕33 号）[S]. 国家医疗保障局, 2025. (访问于 2026-09-11).　新版目录自 2026 年 1 月 1 日起执行；《商业健康保险创新药品目录》第 2 项为盐酸沙丙蝶呤片，有效期 2026 年 1 月 1 日至 2027 年 12 月 31 日。引用于：四氢生物蝶呤缺乏症
  6. 国家医疗保障局、人力资源社会保障部. 国家基本医疗保险、生育保险和工伤保险药品目录（2025 年）[S]. 国家医疗保障局, 2025. (访问于 2026-09-12).　2026 年 1 月 1 日起执行。引用于：脊髓性肌萎缩症、尼曼匹克病、肝豆状核变性、多巴反应性肌张力障碍、Lennox-Gastaut 综合征、罕见病政策与保障
  7. National Institute for Health and Care Excellence. Epilepsies in children, young people and adults（NICE guideline NG217）[S]. NICE, 2025. (访问于 2026-10-07).引用于：结节性硬化症、West 综合征、婴儿严重肌阵挛性癫痫
  8. National Institute for Health and Care Excellence. Ganaxolone for treating seizures caused by CDKL5 deficiency disorder in people 2 years and over（TA1033）[S]. NICE, 2025. (访问于 2026-09-10).引用于：CDKL5 缺乏症
  9. 宜昌人福药业有限责任公司. 2024 年国家医保药品目录调整申报材料（公示版）：氯巴占片[S]. 国家医疗保障局, 2024. (访问于 2026-09-12).　载明说明书适应证、中国大陆首次上市时间与批准文号。引用于：Lennox-Gastaut 综合征
  10. 北京市残疾人联合会, 北京市民政局, 北京市市场监督管理局. 北京市残疾儿童康复服务定点机构协议管理办法（试行）[S]. 首都之窗 政策文件, 2024. (访问于 2026-10-08).
  11. 北京市残疾人联合会. 北京市残疾儿童康复服务定点机构准入标准[S]. 北京市残疾人联合会网站 政策法规—康复, 2024. (访问于 2026-10-08).
  12. 北京市医疗保障局. 北京市医疗保障局关于调整物理、康复治疗医保报销政策的通知[S]. 北京市医疗保障局网站 政策文件, 2024. (访问于 2026-10-08).
  13. 中国残联, 教育部, 民政部, 等. 孤独症儿童关爱促进行动实施方案（2024—2028 年）[S]. 中国残疾人联合会, 2024. (访问于 2026-09-30).引用于：应用行为分析（ABA）、家长介导干预
  14. 人力资源社会保障部办公厅, 中国残疾人联合会办公厅. 关于颁布听觉口语师国家职业标准的通知[S]. 中国残疾人联合会, 2024. (访问于 2026-09-30).引用于：构音与语音训练、康复与干预方法
  15. 国家医疗保障局. 康复类医疗服务价格项目立项指南（试行）[S]. 国家医疗保障局, 2024. (访问于 2026-10-02).引用于：姿势管理与体位摆放、认知能力训练、日常生活活动能力训练、物理因子治疗、康复与干预方法
  16. 国家卫生健康委办公厅. 婴幼儿早期发展服务指南（试行）（国卫办妇幼函〔2024〕467 号）[S]. 中国政府网, 2024. (访问于 2026-10-02).引用于：养育照护
  17. 国家卫生健康委员会, 科学技术部, 工业和信息化部, 国家药品监督管理局, 国家中医药管理局, 中央军委后勤保障部卫生局. 关于公布第二批罕见病目录的通知（国卫医政发〔2023〕26 号）[S]. 中华人民共和国工业和信息化部, 2023. (访问于 2026-09-10).　收录 86 种罕见病。引用于：Rett 综合征、West 综合征、脆性 X 综合征、神经纤维瘤病、CDKL5 缺乏症、异染性脑白质营养不良、软骨发育不全、原发性生长激素缺乏症、DYRK1A 综合征、Kabuki 综合征、Cornelia de Lange 综合征、Sotos 综合征、21 三体综合征、22q11.2 缺失综合征、Phelan-McDermid 综合征、Smith-Magenis 综合征、猫叫综合征、CHARGE 综合征、SYNGAP1 相关智力障碍、ADNP 综合征、CHD8 相关神经发育障碍、PTEN 错构瘤肿瘤综合征、MECP2 重复综合征、15q11.2-q13.1 重复综合征、Potocki-Lupski 综合征、Pitt-Hopkins 综合征、Mowat-Wilson 综合征、KBG 综合征、Coffin-Siris 综合征、Koolen-de Vries 综合征、7q11.23 重复综合征、Kleefstra 综合征、Rubinstein-Taybi 综合征、Smith-Lemli-Opitz 综合征、脑肌酸缺乏综合征、GLUT1 缺乏综合征、神经元蜡样脂褐质沉积症、四氢生物蝶呤缺乏症、X-连锁肾上腺脑白质营养不良、线粒体脑肌病、尼曼匹克病、神经节苷脂贮积症、戊二酸血症Ⅰ型、枫糖尿症、生物素酶缺乏症、同型半胱氨酸血症、肝豆状核变性、多巴反应性肌张力障碍、Lennox-Gastaut 综合征、非综合征型耳聋、1p36 缺失综合征、Wolf-Hirschhorn 综合征、Joubert 综合征、无脑回畸形、FOXG1 综合征、STXBP1 相关发育性癫痫性脑病、CTNNB1 相关神经发育障碍、SATB2 相关障碍、鸟氨酸氨甲酰基转移酶缺乏症、瓜氨酸血症、精氨酸酶缺乏症、丙酸血症、异戊酸血症、半乳糖血症、原发性肉碱缺乏症、戈谢病、全身型重症肌无力、低碱性磷酸酶血症、马凡综合征、面肩肱型肌营养不良症、先天性肌营养不良（胶原Ⅵ相关肌病）、慢性炎性脱髓鞘性多发性神经根神经病、Pelizaeus-Merzbacher 病、亚历山大病、Canavan 病、Zellweger 谱系障碍、Menkes 病、Aicardi-Goutières 综合征、L1 综合征、共济失调毛细血管扩张症、KCNQ2 相关障碍、进行性骨化性纤维发育不良、Dandy-Walker 畸形、Sturge-Weber 综合征、多小脑回、Bardet-Biedl 综合征、Leber 先天性黑矇、早产儿视网膜病变、芳香族 L-氨基酸脱羧酶缺乏症、胱氨酸贮积症、发作性睡病、Christianson 综合征、Alagille 综合征、早老症、Krabbe 病、PMM2-CDG、吡哆醇依赖性癫痫、Lesch-Nyhan 综合征、非酮性高甘氨酸血症、3-甲基巴豆酰辅酶 A 羧化酶缺乏症、先天性肌病、先天性多发性关节挛缩、婴儿神经轴索营养不良、泛酸激酶相关神经变性、儿童交替性偏瘫、白质消融性白质脑病、SCN2A 相关疾病、Landau-Kleffner 综合征、Wiedemann-Steiner 综合征、Costello 综合征、心-面-皮肤综合征、烟雾病、Beckwith-Wiedemann 综合征、PIK3CA 相关过度生长综合征、新生儿持续肺动脉高压、综合征性颅缝早闭、Ehlers-Danlos 综合征、Pierre Robin 序列征、莱伦氏综合征、假性甲状旁腺功能减退症、视隔发育不良、Usher 综合征、Waardenburg 综合征、儿童罕见病、罕见病政策与保障、术语表
  18. 广东省教育厅, 中共广东省委机构编制委员会办公室, 广东省发展和改革委员会, 等. 关于加强残疾儿童少年义务教育阶段随班就读工作的实施细则（粤教〔2023〕17 号）[S]. 广东省人民政府门户网站, 2023. (访问于 2026-10-02).引用于：日常生活活动能力训练
  19. 国家卫生健康委办公厅. 康复治疗专业人员培训大纲（2023 年版）（国卫办医政函〔2023〕386 号）[S]. 中国政府网, 2023. (访问于 2026-10-02).引用于：姿势管理与体位摆放、认知能力训练、日常生活活动能力训练、物理因子治疗、康复与干预方法
  20. Fresenius Kabi Austria GmbH. Lactulose 10 g / 15 ml oral solution sachets - Summary of Product Characteristics (SmPC)[S]. electronic medicines compendium (emc), 2023. (访问于 2026-10-07).　乳果糖口服溶液在英国的产品说明书，emc 上最近一次更新在 2023 年 10 月 26 日。引用于：遗传性果糖不耐受症
  21. United Nations Children’s Fund. The Early Childhood Development Index 2030: A new measure of early childhood development[S]. UNICEF, 2023. (访问于 2026-09-10).　24–59 月龄人群指标，20 条照护者报告题，服务于可持续发展目标指标 4.2.1引用于：宝秀兰儿童神经发育综合评估系统
  22. 国家卫生健康委办公厅. 0～6 岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).引用于：孤独症谱系障碍（自闭症）、儿童发育与行为评估、行为矫正训练、语言发育迟缓、手部刻板动作、孤独症谱系障碍的鉴别与病因评估、应用行为分析（ABA）、自然发展行为干预（NDBI）、回合式教学（DTT）、关键反应训练（PRT）、早期介入丹佛模式（ESDM）、语言行为与 VB-MAPP、问题行为的功能评估与正向行为支持（PBS）、家长介导干预、地板时光（DIR）、结构化教学（TEACCH）、社交技能小组训练、社交故事、游戏治疗与沙盘游戏、家长行为管理培训（PMT）、孤独症（自闭症）的干预方法、康复与干预方法、评估量表一览、术语表
  23. 国家卫生健康委办公厅. 3 岁以下婴幼儿健康养育照护指南（试行）（国卫办妇幼函〔2022〕409 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).引用于：儿童注意力不集中、喂养困难与儿童营养咨询、家庭育儿指导课程、养育照护、日常生活活动能力训练、术语表
  24. 国家卫生健康委. 7 岁以下儿童生长标准 WS/T 423—2022[S]. 中华人民共和国卫生行业标准, 2022. (访问于 2026-09-07).引用于：喂养困难与儿童营养咨询、喂养困难、头围增长异常、身材矮小、全面发育迟缓：病因评估与后续管理、骨骼与结缔组织、内分泌与生长、0～1 岁神经运动 20 项检查、评估量表一览、术语表
  25. 北京市残疾人联合会, 北京市财政局, 北京市卫生健康委员会, 北京市医疗保障局. 北京市残疾儿童康复服务办法[S]. 北京市人民政府, 2022. (访问于 2026-09-10).　以持有残疾人证或指定医疗机构的诊断评估报告为条件，未按病因分列。引用于：罕见病政策与保障
  26. 中国营养学会. 中国婴幼儿喂养指南（2022）[S]. 中国营养学会, 2022. (访问于 2026-09-07).引用于：喂养困难与儿童营养咨询、小儿推拿、喂养困难
  27. 北京市残疾人联合会, 北京市民政局. 北京市残疾儿童康复服务定点机构准入标准[S]. 北京市人民政府门户网站, 2021. (访问于 2026-10-02).　《关于做好民办残疾儿童康复机构评估认定工作的通知》（京残发〔2021〕24 号）附件 2。引用于：认知能力训练、日常生活活动能力训练
  28. 国家卫生健康委办公厅. 关于印发 0～6 岁儿童眼保健及视力检查服务规范（试行）的通知（国卫办妇幼发〔2021〕11 号）[S]. 中国政府网, 2021. (访问于 2026-10-07).　0～6 岁共 13 次眼保健和视力检查；出生体重低于 2000 g 或出生孕周小于 32 周列为眼病高危因素。引用于：早产儿视网膜病变
  29. 国家医疗保障局, 人力资源社会保障部. 关于印发《国家基本医疗保险、工伤保险和生育保险药品目录（2021 年）》的通知（医保发〔2021〕50 号）[S]. 国家医疗保障局, 2021. (访问于 2026-09-10).　2021 年 11 月 24 日印发，自 2022 年 1 月 1 日起执行。引用于：脊髓性肌萎缩症、罕见病政策与保障
  30. 人力资源社会保障部. 国家职业资格目录（2021 年版）[S]. 人力资源社会保障部, 2021. (访问于 2026-09-30).引用于：强制性诱导运动疗法与双手强化训练（CIMT）、减重步行与跑台训练、悬吊训练（SET）、应用行为分析（ABA）、回合式教学（DTT）、早期介入丹佛模式（ESDM）、语言行为与 VB-MAPP、问题行为的功能评估与正向行为支持（PBS）
  31. 国家卫生健康委. 健康儿童行动提升计划（2021—2025 年）（国卫妇幼发〔2021〕33 号）[S]. 中国政府网, 2021. (访问于 2026-10-08).引用于：家庭育儿指导课程、养育照护、康复与干预方法
  32. 国家市场监督管理总局, 国家标准化管理委员会. 中医技术操作规范 儿科 第 4 部分：小儿推拿疗法 GB/Z 40893.4—2021[S]. 国家标准化指导性技术文件, 2021. (访问于 2026-09-07).引用于：高危儿与早产儿早期干预、儿童脑瘫康复、全面发育迟缓、喂养困难与儿童营养咨询、小儿推拿、婴儿抚触与被动操、小儿推拿、术语表
  33. 北京市残疾人联合会. 关于印发《北京市残疾儿童康复服务办法实施细则》的通知[S]. 北京市残疾人联合会网站 政策法规—康复, 2020. (访问于 2026-10-08).
  34. 教育部. 教育部关于加强残疾儿童少年义务教育阶段随班就读工作的指导意见[S]. 中国政府网, 2020. (访问于 2026-09-30).引用于：社交技能小组训练、社交故事、康复与干预方法
  35. 国家卫生健康委办公厅. 精神障碍诊疗规范（2020 年版）（国卫办医函〔2020〕945 号）[S]. 国家卫生健康委, 2020. (访问于 2026-10-02).　全文见国家心理健康和精神卫生防治中心网站。引用于：认知能力训练、日常生活活动能力训练、康复与干预方法
  36. U.S. Food and Drug Administration. HETLIOZ（tasimelteon）· Drugs@FDA 药品档案（申请号 205677）[S]. 美国食品药品监督管理局, 2020. (访问于 2026-09-10).　2020 年 12 月 1 日批准补充适应证：Smith-Magenis 综合征相关的夜间睡眠紊乱。引用于：Smith-Magenis 综合征
  37. 国务院办公厅. 关于促进 3 岁以下婴幼儿照护服务发展的指导意见（国办发〔2019〕15 号）[S]. 中国政府网, 2019. (访问于 2026-09-07).引用于：家庭育儿指导课程
  38. 国家卫生健康委员会办公厅. 关于建立全国罕见病诊疗协作网的通知（国卫办医函〔2019〕157 号）[S]. 中国政府网, 2019. (访问于 2026-09-10).　首批 324 家医院：国家级牵头医院 1 家（北京协和医院）、省级牵头医院 32 家、成员医院 291 家；北京市共 15 家，其中成员医院 13 家。引用于：脊髓性肌萎缩症、杜氏肌营养不良、腓骨肌萎缩症、肌强直性营养不良、先天性肌无力综合征、遗传性痉挛性截瘫、Rett 综合征、结节性硬化症、West 综合征、婴儿严重肌阵挛性癫痫、脆性 X 综合征、神经纤维瘤病、CDKL5 缺乏症、Angelman 综合征、Prader-Willi 综合征、威廉姆斯综合征、Noonan 综合征、Silver-Russell 综合征、苯丙酮尿症、糖原累积病Ⅱ型、黏多糖贮积症、甲基丙二酸血症、异染性脑白质营养不良、成骨不全症、软骨发育不全、低磷性佝偻病、21-羟化酶缺乏症、原发性生长激素缺乏症、DYRK1A 综合征、Kabuki 综合征、Cornelia de Lange 综合征、Sotos 综合征、21 三体综合征、22q11.2 缺失综合征、Phelan-McDermid 综合征、Smith-Magenis 综合征、猫叫综合征、CHARGE 综合征、SYNGAP1 相关智力障碍、ADNP 综合征、CHD8 相关神经发育障碍、PTEN 错构瘤肿瘤综合征、MECP2 重复综合征、15q11.2-q13.1 重复综合征、Potocki-Lupski 综合征、Pitt-Hopkins 综合征、Mowat-Wilson 综合征、KBG 综合征、Coffin-Siris 综合征、Koolen-de Vries 综合征、7q11.23 重复综合征、Kleefstra 综合征、Rubinstein-Taybi 综合征、Smith-Lemli-Opitz 综合征、脑肌酸缺乏综合征、GLUT1 缺乏综合征、神经元蜡样脂褐质沉积症、四氢生物蝶呤缺乏症、X-连锁肾上腺脑白质营养不良、线粒体脑肌病、尼曼匹克病、神经节苷脂贮积症、戊二酸血症Ⅰ型、枫糖尿症、生物素酶缺乏症、同型半胱氨酸血症、肝豆状核变性、多巴反应性肌张力障碍、Lennox-Gastaut 综合征、非综合征型耳聋、1p36 缺失综合征、Wolf-Hirschhorn 综合征、Joubert 综合征、无脑回畸形、FOXG1 综合征、STXBP1 相关发育性癫痫性脑病、CTNNB1 相关神经发育障碍、SATB2 相关障碍、鸟氨酸氨甲酰基转移酶缺乏症、瓜氨酸血症、精氨酸酶缺乏症、丙酸血症、异戊酸血症、半乳糖血症、原发性肉碱缺乏症、戈谢病、全身型重症肌无力、低碱性磷酸酶血症、马凡综合征、面肩肱型肌营养不良症、先天性肌营养不良（胶原Ⅵ相关肌病）、慢性炎性脱髓鞘性多发性神经根神经病、Pelizaeus-Merzbacher 病、亚历山大病、Canavan 病、Zellweger 谱系障碍、Menkes 病、Aicardi-Goutières 综合征、L1 综合征、共济失调毛细血管扩张症、KCNQ2 相关障碍、进行性骨化性纤维发育不良、Dandy-Walker 畸形、Sturge-Weber 综合征、多小脑回、Bardet-Biedl 综合征、Leber 先天性黑矇、早产儿视网膜病变、中链酰基辅酶 A 脱氢酶缺乏症、极长链酰基辅酶 A 脱氢酶缺乏症、HHH 综合征、原发性酪氨酸血症、芳香族 L-氨基酸脱羧酶缺乏症、法布雷病、胱氨酸贮积症、眼皮肤白化病、视网膜色素变性、脊髓小脑性共济失调、发作性睡病、Christianson 综合征、自身免疫性脑炎、先天性脊柱侧凸、先天性高胰岛素性低血糖血症、先天性肌强直、血友病、遗传性大疱性表皮松解症、Alagille 综合征、早老症、糖原累积病Ⅰ型、遗传性果糖不耐受症、全羧化酶合成酶缺乏症、多种酰基辅酶 A 脱氢酶缺乏症、长链 3-羟酰基辅酶 A 脱氢酶缺乏症、β-酮硫解酶缺乏症、赖氨酸尿蛋白不耐受症、Krabbe 病、PMM2-CDG、吡哆醇依赖性癫痫、Lesch-Nyhan 综合征、非酮性高甘氨酸血症、3-甲基巴豆酰辅酶 A 羧化酶缺乏症、肢带型肌营养不良、先天性肌病、先天性多发性关节挛缩、婴儿神经轴索营养不良、泛酸激酶相关神经变性、DYT-TOR1A 肌张力障碍、儿童交替性偏瘫、白质消融性白质脑病、SCN2A 相关疾病、Landau-Kleffner 综合征、Wiedemann-Steiner 综合征、Costello 综合征、心-面-皮肤综合征、烟雾病、Beckwith-Wiedemann 综合征、PIK3CA 相关过度生长综合征、新生儿持续肺动脉高压、综合征性颅缝早闭、Ehlers-Danlos 综合征、Pierre Robin 序列征、McCune-Albright 综合征、莱伦氏综合征、假性甲状旁腺功能减退症、新生儿糖尿病、视隔发育不良、Usher 综合征、Waardenburg 综合征、儿童罕见病、罕见病政策与保障
  39. 北京市残疾人联合会, 北京市教育委员会, 北京市财政局, 北京市民政局, 北京市卫生健康委员会. 关于印发《北京市残疾儿童康复服务办法》的通知[S]. 首都之窗（北京市人民政府门户网站）政策文件, 2019. (访问于 2026-10-08).
  40. 中国残联, 民政部, 国家卫生健康委, 等. 关于印发《残疾人基本康复服务目录（2019 年版）》的通知[S]. 中国残疾人联合会, 2019. (访问于 2026-10-02).引用于：姿势管理与体位摆放、认知能力训练
  41. 国家卫生健康委员会办公厅. 关于印发罕见病诊疗指南（2019 年版）的通知（国卫办医函〔2019〕198 号）[S]. 国家卫生健康委员会, 2019. (访问于 2026-09-10).　对应第一批目录的 121 种病，由北京协和医院牵头编写。引用于：脊髓性肌萎缩症、杜氏肌营养不良、腓骨肌萎缩症、肌强直性营养不良、先天性肌无力综合征、遗传性痉挛性截瘫、结节性硬化症、婴儿严重肌阵挛性癫痫、Angelman 综合征、Prader-Willi 综合征、威廉姆斯综合征、Noonan 综合征、Silver-Russell 综合征、苯丙酮尿症、糖原累积病Ⅱ型、黏多糖贮积症、甲基丙二酸血症、成骨不全症、低磷性佝偻病、21-羟化酶缺乏症、四氢生物蝶呤缺乏症、X-连锁肾上腺脑白质营养不良、线粒体脑肌病、尼曼匹克病、神经节苷脂贮积症、戊二酸血症Ⅰ型、枫糖尿症、生物素酶缺乏症、同型半胱氨酸血症、肝豆状核变性、多巴反应性肌张力障碍、非综合征型耳聋、鸟氨酸氨甲酰基转移酶缺乏症、瓜氨酸血症、精氨酸酶缺乏症、丙酸血症、异戊酸血症、半乳糖血症、原发性肉碱缺乏症、戈谢病、全身型重症肌无力、低碱性磷酸酶血症、马凡综合征、糖原累积病Ⅰ型、遗传性果糖不耐受症、全羧化酶合成酶缺乏症、多种酰基辅酶 A 脱氢酶缺乏症、长链 3-羟酰基辅酶 A 脱氢酶缺乏症、β-酮硫解酶缺乏症、赖氨酸尿蛋白不耐受症、3-甲基巴豆酰辅酶 A 羧化酶缺乏症、肢带型肌营养不良、DYT-TOR1A 肌张力障碍、McCune-Albright 综合征、莱伦氏综合征、新生儿糖尿病、Waardenburg 综合征、儿童罕见病、罕见病政策与保障、急性代谢危象、视觉行为异常、其他系统与多系统受累
  42. 西安杨森制药有限公司. 麦格司他胶囊（泽维可）说明书[S]. 西安杨森制药有限公司, 2019. (访问于 2026-09-12).　核准日期 2016 年 11 月 23 日，修改日期 2019 年 4 月 11 日。引用于：尼曼匹克病
  43. 北京市卫生和计划生育委员会, 北京市残疾人联合会, 北京市财政局. 北京市卫生和计划生育委员会 北京市残疾人联合会 北京市财政局关于开展 0-6岁儿童残疾筛查工作的通知[S]. 北京市卫生健康委员会网站 政策文件, 2018. (访问于 2026-10-08).
  44. 北京市卫生和计划生育委员会. 北京市卫生和计划生育委员会关于落实《早产儿保健工作规范》的通知[S]. 北京市卫生健康委员会网站, 2018. (访问于 2026-10-08).
  45. 国家卫生健康委员会, 科学技术部, 工业和信息化部, 国家药品监督管理局, 国家中医药管理局. 关于公布第一批罕见病目录的通知（国卫医发〔2018〕10 号）[S]. 中国政府网, 2018. (访问于 2026-09-10).　收录 121 种罕见病。引用于：脊髓性肌萎缩症、杜氏肌营养不良、腓骨肌萎缩症、肌强直性营养不良、先天性肌无力综合征、遗传性痉挛性截瘫、结节性硬化症、婴儿严重肌阵挛性癫痫、Angelman 综合征、Prader-Willi 综合征、威廉姆斯综合征、Noonan 综合征、Silver-Russell 综合征、苯丙酮尿症、糖原累积病Ⅱ型、黏多糖贮积症、甲基丙二酸血症、成骨不全症、低磷性佝偻病、21-羟化酶缺乏症、DYRK1A 综合征、Kabuki 综合征、Cornelia de Lange 综合征、Sotos 综合征、21 三体综合征、22q11.2 缺失综合征、Phelan-McDermid 综合征、Smith-Magenis 综合征、猫叫综合征、CHARGE 综合征、SYNGAP1 相关智力障碍、ADNP 综合征、CHD8 相关神经发育障碍、PTEN 错构瘤肿瘤综合征、MECP2 重复综合征、15q11.2-q13.1 重复综合征、Potocki-Lupski 综合征、Pitt-Hopkins 综合征、Mowat-Wilson 综合征、KBG 综合征、Coffin-Siris 综合征、Koolen-de Vries 综合征、7q11.23 重复综合征、Kleefstra 综合征、Rubinstein-Taybi 综合征、Smith-Lemli-Opitz 综合征、脑肌酸缺乏综合征、GLUT1 缺乏综合征、神经元蜡样脂褐质沉积症、四氢生物蝶呤缺乏症、X-连锁肾上腺脑白质营养不良、线粒体脑肌病、尼曼匹克病、神经节苷脂贮积症、戊二酸血症Ⅰ型、枫糖尿症、生物素酶缺乏症、同型半胱氨酸血症、肝豆状核变性、多巴反应性肌张力障碍、Lennox-Gastaut 综合征、非综合征型耳聋、1p36 缺失综合征、Wolf-Hirschhorn 综合征、Joubert 综合征、无脑回畸形、FOXG1 综合征、STXBP1 相关发育性癫痫性脑病、CTNNB1 相关神经发育障碍、SATB2 相关障碍、鸟氨酸氨甲酰基转移酶缺乏症、瓜氨酸血症、精氨酸酶缺乏症、丙酸血症、异戊酸血症、半乳糖血症、原发性肉碱缺乏症、戈谢病、全身型重症肌无力、低碱性磷酸酶血症、马凡综合征、面肩肱型肌营养不良症、先天性肌营养不良（胶原Ⅵ相关肌病）、慢性炎性脱髓鞘性多发性神经根神经病、Pelizaeus-Merzbacher 病、亚历山大病、Canavan 病、Zellweger 谱系障碍、Menkes 病、Aicardi-Goutières 综合征、L1 综合征、共济失调毛细血管扩张症、KCNQ2 相关障碍、进行性骨化性纤维发育不良、Dandy-Walker 畸形、Sturge-Weber 综合征、多小脑回、Bardet-Biedl 综合征、Leber 先天性黑矇、早产儿视网膜病变、中链酰基辅酶 A 脱氢酶缺乏症、极长链酰基辅酶 A 脱氢酶缺乏症、HHH 综合征、原发性酪氨酸血症、芳香族 L-氨基酸脱羧酶缺乏症、法布雷病、眼皮肤白化病、视网膜色素变性、脊髓小脑性共济失调、Christianson 综合征、自身免疫性脑炎、先天性脊柱侧凸、先天性高胰岛素性低血糖血症、先天性肌强直、血友病、遗传性大疱性表皮松解症、糖原累积病Ⅰ型、遗传性果糖不耐受症、全羧化酶合成酶缺乏症、多种酰基辅酶 A 脱氢酶缺乏症、长链 3-羟酰基辅酶 A 脱氢酶缺乏症、β-酮硫解酶缺乏症、赖氨酸尿蛋白不耐受症、Krabbe 病、PMM2-CDG、吡哆醇依赖性癫痫、Lesch-Nyhan 综合征、非酮性高甘氨酸血症、3-甲基巴豆酰辅酶 A 羧化酶缺乏症、肢带型肌营养不良、先天性肌病、先天性多发性关节挛缩、婴儿神经轴索营养不良、泛酸激酶相关神经变性、DYT-TOR1A 肌张力障碍、儿童交替性偏瘫、白质消融性白质脑病、SCN2A 相关疾病、Landau-Kleffner 综合征、Wiedemann-Steiner 综合征、Costello 综合征、心-面-皮肤综合征、烟雾病、Beckwith-Wiedemann 综合征、新生儿持续肺动脉高压、综合征性颅缝早闭、Ehlers-Danlos 综合征、Pierre Robin 序列征、McCune-Albright 综合征、莱伦氏综合征、假性甲状旁腺功能减退症、新生儿糖尿病、视隔发育不良、Usher 综合征、Waardenburg 综合征、儿童罕见病、罕见病政策与保障、急性代谢危象、视觉行为异常、其他系统与多系统受累、术语表
  46. 国务院. 国务院关于建立残疾儿童康复救助制度的意见（国发〔2018〕20 号）[S]. 中国政府网, 2018. (访问于 2026-09-30).引用于：减重步行与跑台训练
  47. 湖南省残疾人联合会, 湖南省卫生和计划生育委员会. 湖南省残疾人证管理办法实施细则[S]. 岳阳市君山区人民政府网站（地方政府转发文件附件 2）, 2018. (访问于 2026-10-17).　附件里载有全国统一的《中华人民共和国残疾评定表》与申请表样式；只用于说明评定表的栏目与省级细则的写法，不代表北京的规定。
  48. 全国人民代表大会常务委员会. 中华人民共和国精神卫生法（2018 年修正）[S]. 中国政府网, 2018. (访问于 2026-09-07).引用于：注意缺陷多动障碍（多动症）、术语表
  49. 国家卫生计生委. 0 岁～5 岁儿童睡眠卫生指南 WS/T 579—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).引用于：儿童注意力不集中、注意缺陷多动障碍（多动症）、家庭育儿指导课程、术语表
  50. 国家卫生计生委. 0 岁～6 岁儿童发育行为评估量表 WS/T 580—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).引用于：高危儿与早产儿早期干预、儿童脑瘫康复、孤独症谱系障碍（自闭症）、语言发育迟缓与构音障碍、全面发育迟缓、感觉统合与感觉处理困难、儿童注意力不集中、儿童发育与行为评估、家庭育儿指导课程、儿童罕见病、肌张力低下、粗大运动发育落后、语言发育迟缓、全面发育迟缓、癫痫发作、头围增长异常、共济失调、身材矮小、咖啡牛奶斑、色素脱失斑与鲜红斑痣、全面发育迟缓：病因评估与后续管理、宝秀兰儿童神经发育综合评估系统、评估量表一览、术语表
  51. 国务院. 残疾人教育条例（国务院令第 674 号）[S]. 中国政府网, 2017. (访问于 2026-10-17).　2017 年 2 月 1 日公布，5 月 1 日起施行。第二章「义务教育」规定入学年龄、普通学校与特殊教育学校、送教上门与残疾人教育专家委员会的评估。
  52. 国务院. 残疾人教育条例（国务院令第 674 号）[S]. 中国政府网, 2017. (访问于 2026-10-02).引用于：康复与干预方法
  53. 国家卫生计生委. 国家基本公共卫生服务规范（第三版）：0～6 岁儿童健康管理服务规范（国卫基层发〔2017〕13 号）[S]. 国家卫生计生委, 2017. (访问于 2026-09-07).引用于：全面发育迟缓、儿童注意力不集中、儿童发育与行为评估、评估量表一览、术语表
  54. 上海市人力资源和社会保障局, 上海市医疗保险办公室, 上海市卫生和计划生育委员会, 等. 上海市基本医疗保险医疗康复项目医保支付规范（沪人社医〔2017〕536 号）[S]. 上海市人民政府, 2017. (访问于 2026-10-02).引用于：认知能力训练、日常生活活动能力训练
  55. 国家卫生计生委办公厅. 危重新生儿救治中心建设与管理指南（国卫办妇幼发〔2017〕40 号）[S]. 国家卫生计生委, 2017. (访问于 2026-10-02).　全文见《发育医学电子杂志》2018 年第 6 卷第 1 期转载。引用于：姿势管理与体位摆放
  56. 国家卫生计生委办公厅. 早产儿保健工作规范（国卫办妇幼发〔2017〕9 号）[S]. 国家卫生计生委, 2017. (访问于 2026-09-25).引用于：高危儿与早产儿早期干预、儿童发育与行为评估、早期综合训练、高危儿早期干预、袋鼠式护理（KMC）、婴儿抚触与被动操、养育照护、姿势管理与体位摆放、日常生活活动能力训练、小儿推拿、高危儿与早产儿的早期干预方法、康复与干预方法、0～1 岁神经运动 20 项检查、术语表
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  62. 中华医学会眼科学分会眼底病学组. 中国早产儿视网膜病变筛查指南（2014 年）[S]. 中华眼科杂志, 2014. (访问于 2026-09-12). DOI: 10.3760/cma.j.issn.0412-4081.2014.12.017.　规定我国早产儿视网膜病变的筛查对象、初次筛查时间、随访间隔与终止筛查条件。引用于：早产儿视网膜病变
  63. 国家卫生计生委办公厅. 儿童心理保健技术规范（含儿童心理行为发育问题预警征象筛查表）[S]. 国家卫生计生委, 2013. (访问于 2026-09-07).引用于：高危儿与早产儿早期干预、儿童脑瘫康复、孤独症谱系障碍（自闭症）、语言发育迟缓与构音障碍、全面发育迟缓、儿童发育与行为评估、言语认知训练、运动训练、作业训练、儿童罕见病、肌张力低下、粗大运动发育落后、语言发育迟缓、宝秀兰儿童神经发育综合评估系统、评估量表一览、术语表
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  65. 卫生部办公厅. 常用康复治疗技术操作规范（2012 年版）（卫办医政发〔2012〕51 号）[S]. 卫生部, 2012. (访问于 2026-10-02).　委托中国康复医学会组织编写；全文见四川大学华西医院康复医学中心网站转存的 PDF。引用于：姿势管理与体位摆放、认知能力训练、日常生活活动能力训练、物理因子治疗、康复与干预方法
  66. 湖南省卫生厅, 湖南省人力资源和社会保障厅, 湖南省民政厅, 等. 湖南省关于将部分医疗康复项目纳入基本医疗保障范围的实施方案（湘残联字〔2012〕48 号）[S]. 湖南省人民政府门户网站, 2012. (访问于 2026-10-02).　依据卫农卫发〔2010〕80 号制定，附 9 项医疗康复项目表。引用于：认知能力训练、日常生活活动能力训练、康复与干预方法
  67. 卫生部办公厅. 新生儿访视技术规范（《新生儿访视等儿童保健技术规范》附件 1，卫办妇社发〔2012〕49 号）[S]. 卫生部, 2012. (访问于 2026-10-08).
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指南与专家共识183

  1. 中华医学会罕见病分会, 中华医学会儿科学分会内分泌遗传代谢学组, 中国优生优育协会出生缺陷防控专业委员会新生儿遗传代谢病筛查学组. 21-羟化酶缺乏症临床管理指南（2026）[J]. 中华儿科杂志, 2026, 64(6): 590-600. DOI: 10.3760/cma.j.cn112140-20251204-01073.引用于：21-羟化酶缺乏症
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  12. 中华医学会物理医学与康复学分会言语语言康复学组, 中国康复医学会言语康复专业委员会, 中华医学会儿科学分会康复学组. 发展性语言障碍早期识别专家建议（2025）[J]. 中华儿科杂志, 2025, 63(6): 600-605. DOI: 10.3760/cma.j.cn112140-20250115-00038.引用于：语言发育迟缓与构音障碍、言语认知训练、语言发育迟缓、语言发育迟缓与构音障碍的训练方法、评估量表一览、术语表
  13. 首都儿童医学中心, 中华预防医学会儿童保健分会, 中国妇幼保健协会儿童早期发展专业委员会, 等. 学习困难门诊的规范化建设专家共识[J]. 中国儿童保健杂志, 2025, 33(4): 349-354. DOI: 10.11852/zgetbjzz2025-0286.引用于：学习困难与学习障碍、作业训练、学习困难与学习障碍的干预方法、术语表
  14. 中国医师协会新生儿科医师分会早产儿专业委员会, 中华儿科杂志编辑委员会. 早产儿出院后随访与健康管理专家共识（2025）[J]. 中华儿科杂志, 2025, 63(7): 721-736. DOI: 10.3760/cma.j.cn112140-20250117-00050.
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  17. Alshehri AM, Alanazy MH, Alabdali M, 等. Consensus guidelines on the diagnosis and management of myasthenia gravis by the Saudi Arabia Neuromuscular and Electrodiagnostic Medicine and neuromuscular specialists from the Gulf Cooperation Council region[J]. Therapeutic Advances in Neurological Disorders, 2025, 18: 17562864251346333. DOI: 10.1177/17562864251346333.引用于：全身型重症肌无力
  18. Chateau AV, Blackbeard D, Hlela C, 等. Consensus statements for the biopsychosocial care of patients with epidermolysis bullosa South Africa: Part 2[J]. Health SA Gesondheid, 2025, 30: 2964. DOI: 10.4102/hsag.v30i0.2964.引用于：遗传性大疱性表皮松解症
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  24. Zhong Y, Lin X, Yang Y, 等. Screening for retinopathy of prematurity in China: a five-year cohort study in seven screening centers[J]. BMC Ophthalmology, 2025, 25(1): 3. DOI: 10.1186/s12886-024-03836-5.　全国七中心队列。正文列出我国 2014 年指南的筛查对象（胎龄小于 32 周或出生体重低于 2000 g，或有严重全身疾病、长期吸氧等风险）与首次筛查时间（矫正胎龄 31–32 周或生后 4–6 周）。引用于：早产儿视网膜病变
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  26. 《中国杜氏肌营养不良携带者筛查的临床实践指南》制订组. 中国杜氏肌营养不良携带者筛查的临床实践指南[J]. 国际神经病学神经外科学杂志, 2024, 51(1): 1-6. DOI: 10.16636/j.cnki.jinn.1673-2642.2024.01.001.引用于：杜氏肌营养不良
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  3. Abtahi-Naeini B, Heidari-Beni M, Rostampour N, 等. Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases[J]. Health Science Reports, 2026, 9(10): e73230. DOI: 10.1002/hsr2.73230.引用于：枫糖尿症
  4. Xing SX, Hyman N, Kim DK, 等. Adherence to Pediatric Ophthalmology Follow-Up After Completion of Retinopathy of Prematurity: A Retrospective Review[J]. Patient Preference and Adherence, 2026, 20: 582716. DOI: 10.2147/PPA.S582716.　研究完成早产儿视网膜病变筛查后小儿眼科随访的实际完成情况。引用于：早产儿视网膜病变
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  6. Seneor D, Barile J, Mendes P, 等. Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint[J]. Genes, 2026, 17(6): 675. DOI: 10.3390/genes17060675.　综述：按中枢、前角细胞、周围神经、神经肌肉接头、肌肉、代谢与结缔组织逐层梳理病因，并给出产前超声表现与测序的诊断率。引用于：先天性多发性关节挛缩
  7. Doppler K, Sommer C. Autoimmune nodopathies: a clinical review[J]. Clinical Neurophysiology, 2026, 191: 2112341. DOI: 10.1016/j.clinph.2026.2112341.引用于：慢性炎性脱髓鞘性多发性神经根神经病
  8. González de Aledo-Castillo JM, Casado-Río M, Pajares S, 等. Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result[J]. International Journal of Neonatal Screening, 2026, 12(3): 73. DOI: 10.3390/ijns12030073.引用于：同型半胱氨酸血症
  9. Wang S Q, Wu S N, Wei H Y, 等. Clinical and genetic characteristics of and diagnostic insights on KBG syndrome in Chinese patients: a retrospective study and literature review[J]. Orphanet Journal of Rare Diseases, 2026. DOI: 10.1186/s13023-026-04305-6.　郑州大学附属儿童医院：65 例中国患者与 519 例非中国患者的比较。引用于：KBG 综合征
  10. Dong H, Li M, Ma M, 等. Clinical Characteristics of Childhood-Onset Myasthenia Gravis in a Large Chinese Cohort[J]. Pediatric Neurology, 2026, 179: 98–104. DOI: 10.1016/j.pediatrneurol.2026.03.014.引用于：先天性肌无力综合征、全身型重症肌无力
  11. Farsana MK, Holla VV, Dhar D, 等. Clinical, Radiological, and Therapeutic Profiles of Patients With DYT-TOR1A: A Single-Center Study in India and Literature Review of the Asian MDSGene Cohort[J]. Journal of Movement Disorders, 2026, 19(2): 192-198. DOI: 10.14802/jmd.25256.　印度一家中心 12 例基因确诊患者的回顾，并与数据库中的亚洲病例对比：起病部位、泛化所需时间与脊柱畸形的比例。引用于：DYT-TOR1A 肌张力障碍
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  13. Bruni G, Zuvadelli J, Bernabei SM, 等. Current Dietary Practices in Hereditary Fructose Intolerance: Results from a National Survey Across 15 Italian Metabolic Centres[J]. Nutrients, 2026, 18(16): 2609. DOI: 10.3390/nu18162609.　意大利 15 家代谢中心的饮食管理调查：糖醇与甜味剂的归类、维生素补充、便秘的处理，各中心做法的一致与分歧。引用于：遗传性果糖不耐受症
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  16. Samanta D. Developmental and/or Epileptic Encephalopathy with Spike-Wave Activation in Sleep: From Thalamocortical Mechanisms to Precision Therapy[J]. Children (Basel), 2026, 13(8): 993. DOI: 10.3390/children13080993.　伴睡眠期棘慢波激活的发育性和／或癫痫性脑病的综述：命名沿革、脑电图特征、检查流程、鉴别诊断与各类治疗的构成。引用于：Landau-Kleffner 综合征
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  22. Ju Y, Ji TY. Electro-clinical features of Mowat-Wilson syndrome: A retrospective study of 31 children in mainland China[J]. Epileptic Disorders, 2026, 28(2): 344–358. DOI: 10.1002/epd2.70149.引用于：Mowat-Wilson 综合征
  23. Plug BC, Man JHK, Breur M, 等. Endogenous Repair in Vanishing White Matter[J]. Annals of Neurology, 2026, 99(3): 737–747. DOI: 10.1002/ana.78083.引用于：脑性瘫痪的鉴别与病因评估：何时需要进一步检查
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  25. Ta D, Downs J, Baynam G, 等. Functional skills in MECP2 duplication syndrome: developmental dynamics and regression[J]. Orphanet Journal of Rare Diseases, 2026, 21(1): 16. DOI: 10.1186/s13023-025-04008-4.引用于：MECP2 重复综合征
  26. Proepper CR, Schwarz LM, Schuetz SM, 等. Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly[J]. Orphanet Journal of Rare Diseases, 2026, 21(1): 206. DOI: 10.1186/s13023-026-04398-z.引用于：无脑回畸形
  27. Liu R Y, Wu Y J, Zou C C. Genetic and clinical characteristics of chromosome 15q11-q13 duplication syndrome in Chinese children[J]. American Journal of Medical Genetics Part A, 2026, 200(7): 1498-1514. DOI: 10.1002/ajmg.a.70100.　浙江大学医学院附属儿童医院：22 例中国患儿。引用于：15q11.2-q13.1 重复综合征
  28. Hubert M, Gawęcki M. Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)-Associated Ocular Pathology-A Narrative Review[J]. Diagnostics (Basel), 2026, 16(2): 295. DOI: 10.3390/diagnostics16020295.　本病眼部表现的综述：脉络膜视网膜病变的分期与进展、进行性近视、黄斑新生血管的发生率。引用于：长链 3-羟酰基辅酶 A 脱氢酶缺乏症
  29. Alashwal AA, Al-Fattani A, Ramzan K, 等. Long-Term Treatment for Laron Syndrome with IGF-1 Injection over 22 Years in Saudi Arabia: A Cohort Study[J]. Hormone Research in Paediatrics, 2026, 99(4): 469-479. DOI: 10.1159/000543047.　沙特 28 例队列：首诊年龄、婴幼儿期低血糖、家系与近亲婚配情况，以及治疗期间记录到的不良事件。引用于：莱伦氏综合征
  30. Servais A, Abi-Wardé MT, Arnoux JB, 等. Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice[J]. Orphanet Journal of Rare Diseases, 2026, 21(1). DOI: 10.1186/s13023-026-04418-y.引用于：枫糖尿症
  31. Shang Y, Xu J. Management of Lower-Extremity Deformity in Arthrogryposis Multiplex Congentia: A Narrative Review[J]. Medical Science Monitor, 2026, 32: e951581. DOI: 10.12659/MSM.951581.　叙述性综述：髋、膝、足畸形按部位的处理原则与手术时机，以及按年龄段划分的康复重点。题名中的拼写照原文。引用于：先天性多发性关节挛缩
  32. Hopkin RJ, Byrne BJ, Dimachkie MM, 等. Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease[J]. Therapeutic Advances in Rare Disease, 2026, 7: 26330040261425686. DOI: 10.1177/26330040261425686.引用于：糖原累积病Ⅱ型
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  34. Yang Y, Song A, Du H, 等. Pattern of height and weight development in a large cohort of underage Chinese pseudohypoparathyroidism patients from a single center[J]. Endocrine Connections, 2026, 15(6): e250865. DOI: 10.1530/ec-25-0865.　北京协和医院 92 例经分子分型的Ⅰ型患者的身高、体重发育规律，是我国数据的来源。引用于：假性甲状旁腺功能减退症
  35. Li T, Wang J, Li H, 等. Pediatric Extremity Vascular Malformations: Diagnosis, Referral, and Limb Management from a Pediatric Orthopedic Perspective[J]. Journal of Clinical Medicine, 2026, 15(10): 3833. DOI: 10.3390/jcm15103833.　从小儿骨科角度写的综述：高低流量的区分、凝血筛查、双下肢不等长的判断与随访，以及压力衣、矫形器、鞋垫与步态训练的位置。引用于：PIK3CA 相关过度生长综合征
  36. Mitchell JJ, Abdenur JE, de Boer F, 等. Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa[J]. Journal of Inherited Metabolic Disease, 2026, 49(5): e70241. DOI: 10.1002/jimd.70241.　Ⅰa 型基因治疗的Ⅲ期随机双盲安慰剂对照试验，纳入 8 岁及以上患者。引用于：糖原累积病Ⅰ型
  37. Kaempfen S, Cooper C, Schulzke SM, 等. Physical activity programmes for promoting bone mineralisation and growth in preterm infants[J]. Cochrane Database of Systematic Reviews, 2026, 9(9): CD005387. DOI: 10.1002/14651858.CD005387.pub4.引用于：婴儿抚触与被动操
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  40. Zhou Y, Hao Z, Zhuang Q, 等. Real-World Effectiveness and Safety of Eliglustat in Adult Patients with Gaucher Disease Type 1: A Multicenter Retrospective Study in China[J]. Journal of Clinical Medicine, 2026, 15(6): 2323. DOI: 10.3390/jcm15062323.引用于：戈谢病
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  42. Watanabe D, Hasebe Y, Maebayashi Y, 等. Sudden Release of a Fixed Contracture as a Clue to Occult Humeral Fracture in a Neonate With Arthrogryposis Multiplex Congenita[J]. Cureus, 2026, 18(7): e112944. DOI: 10.7759/cureus.112944.　病例报告：新生儿在清洗腋窝后发生肱骨干骨折，最早的表现是原本固定的姿势突然松开；文中给出日常护理的托扶要点。引用于：先天性多发性关节挛缩
  43. Qu L, Colombi C, Chen W, 等. The Efficacy of a Culturally-Adapted Group-based Parent Coaching Program for Autistic Children in China via Telehealth: A Randomized Controlled Trial[J]. Journal of Autism and Developmental Disorders, 2026, 56(1): 26-44. DOI: 10.1007/s10803-024-06543-8.引用于：家长介导干预
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  49. Gil CB, Paz D, Pinales BE, 等. A Zebrafish Seizure Model of cblX Syndrome Reveals a Dose-Dependent Response to mTor Inhibition[J]. Journal of Developmental Biology, 2025, 14(1). DOI: 10.3390/jdb14010002.引用于：同型半胱氨酸血症
  50. Simpson AJ, McLellan A, Behl KE, 等. Alternating Hemiplegia of Childhood and ATP1A3-Related Diseases: Insights From a Decade of Discovery and Collaboration[J]. Neurology Genetics, 2025, 11(5): e200308. DOI: 10.1212/NXG.0000000000200308.　基因发现十周年专题会议的综述：氟桂利嗪的使用与停药、多系统受累、多学科照护与病名的讨论。引用于：儿童交替性偏瘫
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  358. Zarate Y A, Bosanko K, Fish J. SATB2-Associated Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2024. (访问于 2026-09-12).　2017 年 10 月首发，2024 年 6 月更新。引用于：SATB2 相关障碍
  359. Screening for Hearing Loss[EB/OL]. U.S. Centers for Disease Control and Prevention, 2024. (访问于 2026-09-25).　2024-10-08 更新。用于儿童出现听觉疑虑时及时接受听力筛查或完整评估；对玩具声音的反应不能替代检查。引用于：训练器材与教具
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  361. MedlinePlus Genetics. Wolf-Hirschhorn syndrome[EB/OL]. 美国国家医学图书馆, 2024. (访问于 2026-09-12).引用于：Wolf-Hirschhorn 综合征
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  363. 国家医疗保障局. 《国家基本医疗保险、工伤保险和生育保险药品目录（2022 年）》解读[EB/OL]. 国家医疗保障局, 2023. (访问于 2026-09-10).引用于：脊髓性肌萎缩症、罕见病政策与保障
  364. 宝秀兰医疗. 鲍秀兰教授从医 65 周年座谈会暨爱儿门诊部剪彩纪要（2023-10-17）[EB/OL]. 宝秀兰医疗, 2023.引用于：机构沿革、合作机构、NBNA 方法页
  365. 湖南省医疗保障局. 对省十四届人大一次会议第 0186 号建议的答复（湘医保建函〔2023〕46 号）[EB/OL]. 湖南省医疗保障局, 2023. (访问于 2026-10-02).引用于：认知能力训练
  366. 北京市大兴区卫生健康委员会. 关于北京宝秀兰爱儿门诊部拟执业登记注册相关情况公示（2023 年第 8 号）[EB/OL]. 北京市大兴区人民政府, 2023. (访问于 2026-09-07).引用于：机构沿革、合作机构、术语表
  367. 中国优生优育协会. 全国第十三届儿童发育与临床多学科合作学术研讨会暨儿童早期发展和早期干预多学科（MDT）论坛在京成功举办[EB/OL]. 中国优生优育协会, 2023. (访问于 2026-09-24).　主办、承办、议程与讲者名单以这一篇为准。引用于：机构沿革、合作机构
  368. 医师报. 我国泰斗级儿科专家鲍秀兰教授从医 65 周年座谈会在京成功举办[EB/OL]. 医师报, 2023. (访问于 2026-09-10).引用于：合作机构
  369. 中国优生优育协会. 我国泰斗级儿科专家鲍秀兰教授从医65周年座谈会在京成功举办[EB/OL]. 中国优生优育协会, 2023. (访问于 2026-09-07).引用于：媒体报道与公开发表、鲍秀兰教授
  370. 中国优生优育协会. 我国泰斗级儿科专家鲍秀兰教授从医65周年座谈会在京成功举办[EB/OL]. 中国优生优育协会, 2023. (访问于 2026-09-07).引用于：机构沿革、合作机构
  371. 中国优生优育协会. 小儿科的大医世界——记中国优生优育协会婴幼儿发育专委会荣誉主任、我国泰斗级儿科专家鲍秀兰教授[EB/OL]. 中国优生优育协会, 2023. (访问于 2026-09-07).引用于：机构沿革
  372. 中国优生优育协会. 新生儿神经行为检查技能培训班通知[EB/OL]. 中国优生优育协会, 2023. (访问于 2026-09-07).引用于：鲍秀兰教授、NBNA 方法页
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  374. 盐酸沙丙蝶呤首仿药获批上市[EB/OL]. 中国医药报, 2023. (访问于 2026-09-11).　2023 年 6 月 29 日获批，山东新时代药业有限公司，国药准字 H20233796。引用于：苯丙酮尿症、四氢生物蝶呤缺乏症
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  376. Forsyth R, Gunay-Aygun M. Bardet-Biedl Syndrome Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-12).　2003 年 7 月首发，2023 年 3 月更新。引用于：Bardet-Biedl 综合征
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  379. 美国食品药品监督管理局（FDA）. DAYBUE（trofinetide）新药申请 217026[EB/OL]. Drugs@FDA, 2023. (访问于 2026-09-10).引用于：Rett 综合征
  380. Smith R J H, Azaiez H, Booth K. GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-12).　1998 年 9 月首发，2023 年 7 月更新。引用于：非综合征型耳聋
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  383. Gripp KW, Weaver KN. HRAS-Related Costello Syndrome[EB/OL]. GeneReviews® [Internet]. Seattle (WA): University of Washington, 2023. (访问于 2026-09-30).　初版 2006 年，最近一次全面更新 2023 年 12 月 21 日，2026 年 5 月 21 日有修订。引用于：Costello 综合征
  384. Kleefstra T, de Leeuw N. Kleefstra Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-11).　2010 年 10 月首发，2023 年 1 月更新。引用于：Kleefstra 综合征
  385. Koolen D A, Morgan A, de Vries B B A. Koolen-de Vries Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-11).　2010 年 1 月首发，2023 年 2 月更新。引用于：Koolen-de Vries 综合征
  386. European Medicines Agency. Loargys (pegzilarginase): European public assessment report[EB/OL]. European Medicines Agency, 2023. (访问于 2026-10-07).　2023 年 12 月 15 日获欧盟上市许可，用于 2 岁及以上的精氨酸酶 1 缺乏症患者。引用于：精氨酸酶缺乏症
  387. NHS. Low blood sugar (hypoglycaemia)[EB/OL]. 英国国家医疗服务体系（NHS）, 2023. (访问于 2026-10-07).　页面最近一次审阅在 2023 年 8 月 3 日。引用于：糖原累积病Ⅰ型
  388. National Organization for Rare Disorders (NORD). Moyamoya Disease[EB/OL]. NORD Rare Disease Database, 2023. (访问于 2026-09-30).　美国罕见病组织的病种报告，由波士顿儿童医院神经外科医生协助撰写：RNF213 变异的外显率、其他相关基因与头痛用药的注意事项。引用于：烟雾病
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  390. Mirzaa G, Graham JM Jr, Keppler-Noreuil K. PIK3CA-Related Overgrowth Spectrum[EB/OL]. GeneReviews® [Internet]. Seattle (WA): University of Washington, 2023. (访问于 2026-09-30).　初版 2013 年，最近全面更新 2021 年 12 月 23 日，2023 年 4 月 6 日修订。引用于：PIK3CA 相关过度生长综合征
  391. Driscoll D J, Miller J L, Cassidy S B. Prader-Willi Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-10).引用于：Prader-Willi 综合征、假性甲状旁腺功能减退症、染色体与基因组印记异常、术语表
  392. National Organization for Rare Disorders (NORD). Pseudohypoparathyroidism[EB/OL]. NORD Rare Disease Database, 2023. (访问于 2026-09-30).　面向患者与家庭的英文疾病报告，最近更新 2023 年 8 月 1 日，页内列有相关患者组织与援助项目。引用于：假性甲状旁腺功能减退症
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  394. Goldstein A, Falk MJ. Single Large-Scale Mitochondrial DNA Deletion Syndromes[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-10-07).　2003 年 12 月首发，2023 年 9 月修订。引用于：线粒体脑肌病
  395. Mortier G. Stickler Syndrome[EB/OL]. GeneReviews® [Internet]. Seattle (WA): University of Washington, 2023. (访问于 2026-09-30).　初版 2000 年，最近更新 2023 年 9 月 7 日。本病最常合并的综合征，支持眼、听力随访与遗传方式部分。引用于：Pierre Robin 序列征
  396. Mercimek-Andrews S. STXBP1 Encephalopathy with Epilepsy[EB/OL]. GeneReviews®, University of Washington, Seattle, 2023. (访问于 2026-09-12).　2016 年 12 月首发，2023 年 9 月更新。引用于：STXBP1 相关发育性癫痫性脑病、SCN2A 相关疾病
  397. NHS. What to do if someone has a seizure (fit)[EB/OL]. 英国国家医疗服务体系（NHS）, 2023. (访问于 2026-10-07).　页面最近一次审阅在 2023 年 12 月 19 日。引用于：癫痫发作
  398. Wheelchair provision guidelines[EB/OL]. World Health Organization, 2023. (访问于 2026-09-25).　用于轮椅及相关坐姿支持的个体评估、适配、使用培训与随访原则；不是所有摆位用品的独立疗效证据。引用于：训练器材与教具
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  418. Sheppard SE, Quintero-Rivera F. Wiedemann-Steiner Syndrome[EB/OL]. GeneReviews® [Internet]. Seattle (WA): University of Washington, 2022. (访问于 2026-09-30).　2022 年 5 月 26 日首发。诊断、各系统表现的比例、确诊后的评估与随访、遗传咨询均以本章为主。引用于：Wiedemann-Steiner 综合征
  419. 中华医学会医学遗传学分会, 中国医师协会医学遗传医师分会, 中国罕见病联盟, 北京协和医院. 《中国罕见病定义研究报告 2021》发布[EB/OL]. 新华网, 2021. (访问于 2026-09-10).　中国罕见病定义：新生儿发病率小于万分之一、患病率小于万分之一、患病人数少于 14 万，三者符合其一即为罕见病。引用于：21 三体综合征、7q11.23 重复综合征、先天性多发性关节挛缩、SCN2A 相关疾病、Beckwith-Wiedemann 综合征、新生儿持续肺动脉高压、Ehlers-Danlos 综合征、视隔发育不良、儿童罕见病、罕见病政策与保障、术语表
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  430. Foley AR, Bönnemann CG, 等. Collagen VI-Related Dystrophies[EB/OL]. GeneReviews®, University of Washington, Seattle, 2021. (访问于 2026-09-12).　2004 年 6 月首发，2021 年 3 月更新。涵盖 Bethlem 肌病、中间型与 Ullrich 先天性肌营养不良。引用于：先天性肌营养不良（胶原Ⅵ相关肌病）
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  441. Chinnery P F. Primary Mitochondrial Disorders Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2021. (访问于 2026-09-12).引用于：线粒体脑肌病
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  470. Suspected neurological conditions: recognition and referral (NG127): recommendations for children aged under 16[EB/OL]. National Institute for Health and Care Excellence, 2019. (访问于 2026-09-25).　儿童运动发育迟缓、肌无力、发育倒退及头围异常等神经系统表现的评估与转诊建议。引用于：肌张力低下、发育倒退、粗大运动发育落后、癫痫发作、头围增长异常、脑性瘫痪的鉴别与病因评估：何时需要进一步检查
  471. World Health Organization. To grow up healthy, children need to sit less and play more[EB/OL]. World Health Organization, 2019. (访问于 2026-09-30).　新闻稿，载有《5 岁以下儿童身体活动、久坐行为和睡眠指南》的推荐原文引用于：康复与干预方法
  472. 中国罕见病联盟. 联盟简介[EB/OL]. 中国罕见病联盟, 2018. (访问于 2026-09-10).　2018 年 10 月成立，北京协和医院等发起。引用于：脊髓性肌萎缩症、杜氏肌营养不良、腓骨肌萎缩症、肌强直性营养不良、先天性肌无力综合征、遗传性痉挛性截瘫、Rett 综合征、结节性硬化症、West 综合征、婴儿严重肌阵挛性癫痫、脆性 X 综合征、神经纤维瘤病、CDKL5 缺乏症、Angelman 综合征、Prader-Willi 综合征、威廉姆斯综合征、Noonan 综合征、Silver-Russell 综合征、苯丙酮尿症、糖原累积病Ⅱ型、黏多糖贮积症、甲基丙二酸血症、异染性脑白质营养不良、成骨不全症、软骨发育不全、低磷性佝偻病、21-羟化酶缺乏症、原发性生长激素缺乏症、DYRK1A 综合征、Kabuki 综合征、Cornelia de Lange 综合征、Sotos 综合征、21 三体综合征、22q11.2 缺失综合征、Phelan-McDermid 综合征、Smith-Magenis 综合征、猫叫综合征、CHARGE 综合征、SYNGAP1 相关智力障碍、ADNP 综合征、CHD8 相关神经发育障碍、PTEN 错构瘤肿瘤综合征、MECP2 重复综合征、15q11.2-q13.1 重复综合征、Potocki-Lupski 综合征、Pitt-Hopkins 综合征、Mowat-Wilson 综合征、KBG 综合征、Coffin-Siris 综合征、Koolen-de Vries 综合征、7q11.23 重复综合征、Kleefstra 综合征、Rubinstein-Taybi 综合征、Smith-Lemli-Opitz 综合征、脑肌酸缺乏综合征、GLUT1 缺乏综合征、神经元蜡样脂褐质沉积症、四氢生物蝶呤缺乏症、X-连锁肾上腺脑白质营养不良、线粒体脑肌病、尼曼匹克病、神经节苷脂贮积症、戊二酸血症Ⅰ型、枫糖尿症、生物素酶缺乏症、同型半胱氨酸血症、肝豆状核变性、多巴反应性肌张力障碍、Lennox-Gastaut 综合征、非综合征型耳聋、1p36 缺失综合征、Wolf-Hirschhorn 综合征、Joubert 综合征、无脑回畸形、FOXG1 综合征、STXBP1 相关发育性癫痫性脑病、CTNNB1 相关神经发育障碍、SATB2 相关障碍、鸟氨酸氨甲酰基转移酶缺乏症、瓜氨酸血症、精氨酸酶缺乏症、丙酸血症、异戊酸血症、半乳糖血症、原发性肉碱缺乏症、戈谢病、全身型重症肌无力、低碱性磷酸酶血症、马凡综合征、面肩肱型肌营养不良症、先天性肌营养不良（胶原Ⅵ相关肌病）、慢性炎性脱髓鞘性多发性神经根神经病、Pelizaeus-Merzbacher 病、亚历山大病、Canavan 病、Zellweger 谱系障碍、Menkes 病、Aicardi-Goutières 综合征、L1 综合征、共济失调毛细血管扩张症、KCNQ2 相关障碍、进行性骨化性纤维发育不良、Dandy-Walker 畸形、Sturge-Weber 综合征、多小脑回、Bardet-Biedl 综合征、Leber 先天性黑矇、早产儿视网膜病变、中链酰基辅酶 A 脱氢酶缺乏症、极长链酰基辅酶 A 脱氢酶缺乏症、HHH 综合征、原发性酪氨酸血症、芳香族 L-氨基酸脱羧酶缺乏症、法布雷病、胱氨酸贮积症、眼皮肤白化病、视网膜色素变性、脊髓小脑性共济失调、发作性睡病、Christianson 综合征、自身免疫性脑炎、先天性脊柱侧凸、先天性高胰岛素性低血糖血症、先天性肌强直、血友病、遗传性大疱性表皮松解症、Alagille 综合征、早老症、糖原累积病Ⅰ型、遗传性果糖不耐受症、全羧化酶合成酶缺乏症、多种酰基辅酶 A 脱氢酶缺乏症、长链 3-羟酰基辅酶 A 脱氢酶缺乏症、β-酮硫解酶缺乏症、赖氨酸尿蛋白不耐受症、Krabbe 病、PMM2-CDG、吡哆醇依赖性癫痫、Lesch-Nyhan 综合征、非酮性高甘氨酸血症、3-甲基巴豆酰辅酶 A 羧化酶缺乏症、肢带型肌营养不良、先天性肌病、先天性多发性关节挛缩、婴儿神经轴索营养不良、泛酸激酶相关神经变性、DYT-TOR1A 肌张力障碍、儿童交替性偏瘫、白质消融性白质脑病、SCN2A 相关疾病、Landau-Kleffner 综合征、Wiedemann-Steiner 综合征、Costello 综合征、心-面-皮肤综合征、烟雾病、Beckwith-Wiedemann 综合征、PIK3CA 相关过度生长综合征、新生儿持续肺动脉高压、综合征性颅缝早闭、Ehlers-Danlos 综合征、Pierre Robin 序列征、McCune-Albright 综合征、莱伦氏综合征、假性甲状旁腺功能减退症、新生儿糖尿病、视隔发育不良、Usher 综合征、Waardenburg 综合征、儿童罕见病
  473. National Institute for Health and Care Excellence. Attention deficit hyperactivity disorder: diagnosis and management (NICE guideline NG87)[EB/OL]. NICE, 2018. (访问于 2026-09-30).　2018 年 3 月发布，所引条文据 2019 年 9 月更新版引用于：家长行为管理培训（PMT）、康复与干预方法
  474. ClinGen Hearing Loss Gene Curation Expert Panel. GJB3 curation results[EB/OL]. Clinical Genome Resource (ClinGen), 2018. (访问于 2026-10-07).　GJB3 与常染色体显性非综合征型遗传性听力损失的关系评为「有争议」（Disputed），评定日期 2018 年 2 月 27 日。引用于：非综合征型耳聋
  475. Nunes V, Niinikoski H. Lysinuric Protein Intolerance[EB/OL]. GeneReviews® [Internet]. Seattle (WA): University of Washington, 2018. (访问于 2026-09-30).　初版 2006 年，最近更新 2018 年 4 月 12 日。引用于：赖氨酸尿蛋白不耐受症
  476. El-Hattab A W, Almannai M, Scaglia F. MELAS[EB/OL]. GeneReviews®, University of Washington, Seattle, 2018. (访问于 2026-09-12).　2001 年 2 月首发，2018 年 11 月更新。引用于：线粒体脑肌病、烟雾病
  477. MedlinePlus Genetics. Pelizaeus-Merzbacher disease[EB/OL]. National Library of Medicine (US), 2018. (访问于 2026-10-07).　2018 年 2 月更新。引用于：Pelizaeus-Merzbacher 病
  478. Cooney E. Pioneering Pediatrician Passes[EB/OL]. Harvard Medical School News, 2018. (访问于 2026-09-20).引用于：鲍秀兰教授
  479. Stutterd CA, Dobyns WB, 等. Polymicrogyria Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2018. (访问于 2026-09-12).　2005 年 4 月首发，2018 年 8 月最后更新；该章节已归档，仅作历史参考。引用于：多小脑回
  480. National Institute of Diabetes and Digestive and Kidney Diseases. Treatment for Adrenal Insufficiency & Addison's Disease[EB/OL]. 美国国立卫生研究院, 2018. (访问于 2026-10-07).　2018 年 9 月审定。引用于：X-连锁肾上腺脑白质营养不良
  481. Dowling JJ, Lawlor MW, Das S. X-Linked Myotubular Myopathy[EB/OL]. GeneReviews® [Internet]. Seattle (WA): University of Washington, 2018. (访问于 2026-09-30).　初版 2002 年，最近更新 2018 年 8 月 23 日。X 连锁肌管肌病的分型、病程、遗传咨询与管理。引用于：先天性肌病
  482. 国家级继续医学教育认可项目《BOBATH 治疗技术在小儿脑瘫中的临床应用》培训班招生通知[EB/OL]. 中国康复研究中心, 2017. (访问于 2026-09-30).引用于：Bobath 疗法（NDT）
  483. 中国残疾人联合会. 全国残疾人康复工作简报（2017 年第四期）[EB/OL]. 中国残疾人联合会, 2017. (访问于 2026-09-07).引用于：鲍秀兰教授
  484. 欧洲药品管理局（EMA）. Brineura（cerliponase alfa）欧洲公开评估报告[EB/OL]. European Medicines Agency, 2017. (访问于 2026-09-11).　2017 年 5 月 30 日获欧盟上市许可，适应证为 CLN2 病（三肽基肽酶 1 缺乏症）。引用于：神经元蜡样脂褐质沉积症
  485. Cerebral palsy in under 25s: assessment and management (NG62)[EB/OL]. National Institute for Health and Care Excellence, 2017. (访问于 2026-09-25).　涵盖脑瘫诊断、需重新评估的神经系统表现、功能参与与移动支持；1.12.9 明确不应仅为预防低骨密度提供站立架。引用于：发育倒退、共济失调、脑性瘫痪的鉴别与病因评估：何时需要进一步检查、训练器材与教具
  486. Developmental follow-up of children and young people born preterm (NG72)[EB/OL]. National Institute for Health and Care Excellence, 2017. (访问于 2026-11-02).　早产儿发育问题的风险与独立危险因素、2 岁（矫正）前的强化随访与 4 岁评估、矫正年龄的使用。
  487. Haldeman-Englert CR, Hurst ACE, Levine MA. Disorders of GNAS Inactivation[EB/OL]. GeneReviews® [Internet]. Seattle (WA): University of Washington, 2017. (访问于 2026-09-30).　2017 年 10 月 26 日发布。涵盖假性甲状旁腺功能减退症Ⅰa、Ⅰb、Ⅰc 型，假假性甲状旁腺功能减退症与进行性骨发育异常。引用于：假性甲状旁腺功能减退症
  488. Gregory A, Hayflick SJ. Pantothenate Kinase-Associated Neurodegeneration[EB/OL]. GeneReviews® [Internet]. Seattle (WA): University of Washington, 2017. (访问于 2026-09-30).　初版 2002 年，最近更新 2017 年 8 月 3 日。引用于：泛酸激酶相关神经变性、DYT-TOR1A 肌张力障碍
  489. Potocki L, Neira-Fresneda J, Yuan B. Potocki-Lupski Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2017. (访问于 2026-09-11).　2017 年 8 月首发。引用于：Potocki-Lupski 综合征
  490. Crow YJ. Aicardi-Goutières Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2016. (访问于 2026-09-12).　2005 年 6 月首发，2016 年 11 月更新。引用于：Aicardi-Goutières 综合征
  491. Great Ormond Street Hospital for Children NHS Foundation Trust. Landau Kleffner syndrome[EB/OL]. Great Ormond Street Hospital: Conditions we treat, 2016. (访问于 2026-09-30).　英国大奥蒙德街儿童医院发育性癫痫门诊编写的家长资料，页面标注的最近一次审阅为 2016 年 10 月。引用于：Landau-Kleffner 综合征
  492. Auditory Sensory Strategies[EB/OL]. Oxford Health NHS Foundation Trust, Children’s Community Occupational Therapy, 2015. (访问于 2026-09-25).　仅用于声音环境调整、按需要提供耳罩及避免全天持续佩戴的使用原则；不将耳罩视为治疗或听力检查工具。引用于：训练器材与教具
  493. Challenging behaviour and learning disabilities: prevention and interventions for people with learning disabilities whose behaviour challenges (NG11)[EB/OL]. National Institute for Health and Care Excellence, 2015. (访问于 2026-09-25).　用于智力障碍人群行为支持的功能评估、环境调整、个体化强化与最少限制原则，不支持以奖励替代基本需要或沟通支持。引用于：训练器材与教具
  494. 欧洲药品管理局（EMA）. Strensiq（asfotase alfa）欧洲公开评估报告[EB/OL]. European Medicines Agency, 2015. (访问于 2026-10-07).　2015 年 8 月 28 日获欧盟上市许可；适应证为儿童期起病的低碱性磷酸酶血症患者的长期酶替代治疗，用于治疗骨骼表现。引用于：低碱性磷酸酶血症
  495. Battaglia A, Carey J C, South S T. Wolf-Hirschhorn Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2015. (访问于 2026-09-12).　2002 年 4 月首发，2015 年 8 月更新；该章节已归档。引用于：Wolf-Hirschhorn 综合征
  496. 北京市残疾人联合会（部分与北京市卫生计生委／卫生健康委、北京市中医管理局、北京市民政局联合）. 政策法规 > 康复（栏目列表内的定点机构名单与新增通知，共 10 份）[EB/OL]. 北京市残疾人联合会网站, 2014—2024. (访问于 2026-10-08).
  497. Looking after your child's splint[EB/OL]. Great Ormond Street Hospital for Children NHS Foundation Trust, 2014. (访问于 2026-09-25).　页面标注 2014 年复核。用于支具的清洁、热变形、皮肤受压及疼痛肿胀时联系专业人员等护理原则，不确定具体型号或穿戴时长。引用于：训练器材与教具
  498. Battaglia A. 1p36 Deletion Syndrome[EB/OL]. GeneReviews®, University of Washington, Seattle, 2013. (访问于 2026-09-12).　2008 年 2 月首发，2013 年 6 月更新；该章节已归档。引用于：1p36 缺失综合征
  499. 蔻德罕见病中心. 关于我们[EB/OL]. 蔻德罕见病中心（CORD）, 2013. (访问于 2026-09-10).　2013 年成立的罕见病领域公益组织，原名罕见病发展中心。引用于：脊髓性肌萎缩症、腓骨肌萎缩症、肌强直性营养不良、先天性肌无力综合征、遗传性痉挛性截瘫、Rett 综合征、结节性硬化症、West 综合征、婴儿严重肌阵挛性癫痫、脆性 X 综合征、神经纤维瘤病、CDKL5 缺乏症、Prader-Willi 综合征、威廉姆斯综合征、Noonan 综合征、Silver-Russell 综合征、苯丙酮尿症、糖原累积病Ⅱ型、黏多糖贮积症、甲基丙二酸血症、异染性脑白质营养不良、成骨不全症、软骨发育不全、低磷性佝偻病、21-羟化酶缺乏症、原发性生长激素缺乏症、DYRK1A 综合征、Kabuki 综合征、Cornelia de Lange 综合征、Sotos 综合征、21 三体综合征、22q11.2 缺失综合征、Phelan-McDermid 综合征、Smith-Magenis 综合征、猫叫综合征、CHARGE 综合征、SYNGAP1 相关智力障碍、ADNP 综合征、CHD8 相关神经发育障碍、PTEN 错构瘤肿瘤综合征、MECP2 重复综合征、15q11.2-q13.1 重复综合征、Potocki-Lupski 综合征、Pitt-Hopkins 综合征、Mowat-Wilson 综合征、KBG 综合征、Coffin-Siris 综合征、Koolen-de Vries 综合征、7q11.23 重复综合征、Kleefstra 综合征、Rubinstein-Taybi 综合征、Smith-Lemli-Opitz 综合征、脑肌酸缺乏综合征、GLUT1 缺乏综合征、神经元蜡样脂褐质沉积症、四氢生物蝶呤缺乏症、X-连锁肾上腺脑白质营养不良、线粒体脑肌病、尼曼匹克病、神经节苷脂贮积症、戊二酸血症Ⅰ型、枫糖尿症、生物素酶缺乏症、同型半胱氨酸血症、肝豆状核变性、多巴反应性肌张力障碍、Lennox-Gastaut 综合征、非综合征型耳聋、1p36 缺失综合征、Wolf-Hirschhorn 综合征、Joubert 综合征、无脑回畸形、FOXG1 综合征、STXBP1 相关发育性癫痫性脑病、CTNNB1 相关神经发育障碍、SATB2 相关障碍、鸟氨酸氨甲酰基转移酶缺乏症、瓜氨酸血症、精氨酸酶缺乏症、丙酸血症、异戊酸血症、原发性肉碱缺乏症、戈谢病、全身型重症肌无力、低碱性磷酸酶血症、马凡综合征、面肩肱型肌营养不良症、先天性肌营养不良（胶原Ⅵ相关肌病）、慢性炎性脱髓鞘性多发性神经根神经病、亚历山大病、Zellweger 谱系障碍、Menkes 病、Aicardi-Goutières 综合征、L1 综合征、共济失调毛细血管扩张症、KCNQ2 相关障碍、进行性骨化性纤维发育不良、Dandy-Walker 畸形、Sturge-Weber 综合征、多小脑回、Bardet-Biedl 综合征、Leber 先天性黑矇、早产儿视网膜病变、中链酰基辅酶 A 脱氢酶缺乏症、极长链酰基辅酶 A 脱氢酶缺乏症、HHH 综合征、原发性酪氨酸血症、芳香族 L-氨基酸脱羧酶缺乏症、法布雷病、胱氨酸贮积症、眼皮肤白化病、视网膜色素变性、脊髓小脑性共济失调、发作性睡病、Christianson 综合征、自身免疫性脑炎、先天性脊柱侧凸、先天性高胰岛素性低血糖血症、先天性肌强直、血友病、遗传性大疱性表皮松解症、Alagille 综合征、早老症、糖原累积病Ⅰ型、遗传性果糖不耐受症、全羧化酶合成酶缺乏症、多种酰基辅酶 A 脱氢酶缺乏症、长链 3-羟酰基辅酶 A 脱氢酶缺乏症、β-酮硫解酶缺乏症、赖氨酸尿蛋白不耐受症、Krabbe 病、PMM2-CDG、吡哆醇依赖性癫痫、Lesch-Nyhan 综合征、非酮性高甘氨酸血症、3-甲基巴豆酰辅酶 A 羧化酶缺乏症、肢带型肌营养不良、先天性肌病、先天性多发性关节挛缩、婴儿神经轴索营养不良、泛酸激酶相关神经变性、DYT-TOR1A 肌张力障碍、儿童交替性偏瘫、白质消融性白质脑病、SCN2A 相关疾病、Landau-Kleffner 综合征、Wiedemann-Steiner 综合征、Costello 综合征、心-面-皮肤综合征、烟雾病、Beckwith-Wiedemann 综合征、PIK3CA 相关过度生长综合征、新生儿持续肺动脉高压、综合征性颅缝早闭、Ehlers-Danlos 综合征、Pierre Robin 序列征、McCune-Albright 综合征、莱伦氏综合征、假性甲状旁腺功能减退症、新生儿糖尿病、视隔发育不良、Usher 综合征、Waardenburg 综合征、儿童罕见病
  500. 智障儿童系统康复训练内容[EB/OL]. 北京市残疾人联合会, 2013. (访问于 2026-10-02).引用于：认知能力训练、日常生活活动能力训练
  501. Autism spectrum disorder in under 19s: support and management (CG170)[EB/OL]. National Institute for Health and Care Excellence, 2013. (访问于 2026-09-25).　2021 年更新。用于有意义的视觉提示、感觉环境调整与游戏互动支持原则；不代表图卡、计时器或玩具具有独立疗效。引用于：训练器材与教具
  502. Weleber RG, 等. Leber Congenital Amaurosis[EB/OL]. GeneReviews®, University of Washington, Seattle, 2013. (访问于 2026-09-12).　2004 年 7 月首发，2013 年 5 月最后更新；该章节已归档，仅作历史参考。引用于：Leber 先天性黑矇
  503. Sparks SE, Quijano-Roy S, 等. Congenital Muscular Dystrophy Overview[EB/OL]. GeneReviews®, University of Washington, Seattle, 2012. (访问于 2026-09-12).　2001 年 1 月首发，2012 年 8 月最后更新；该章节已归档，仅作历史参考。引用于：先天性肌营养不良（胶原Ⅵ相关肌病）
  504. Spasticity in under 19s: management (CG145)[EB/OL]. National Institute for Health and Care Excellence, 2012. (访问于 2026-09-25).　2016 年更新。用于痉挛儿童物理治疗的个体目标、器材安全、照护培训、体位支持及矫形器评估原则，不证明某一器材的疗效。引用于：姿势管理与体位摆放、训练器材与教具
  505. Autism spectrum disorder in under 19s: recognition, referral and diagnosis (CG128)[EB/OL]. National Institute for Health and Care Excellence, 2011. (访问于 2026-09-25).　孤独症的识别、临床诊断、伴随疾病与有指征的病因检查；语言或社交能力倒退也可见于孤独症。引用于：发育倒退、语言发育迟缓、孤独症谱系障碍的鉴别与病因评估、神经发育障碍与癫痫性脑病
  506. MedlinePlus Genetics. Rhizomelic chondrodysplasia punctata[EB/OL]. 美国国立医学图书馆, 2010. (访问于 2026-10-07).　2010 年 7 月更新。引用于：Zellweger 谱系障碍
  507. 李忠良. 新生儿行为神经测定[EB/OL]. 好大夫在线（潍坊市妇幼保健院）, 2009. (访问于 2026-09-07).引用于：NBNA 方法页
  508. Palisano R, Rosenbaum P, Bartlett D, Livingston M. GMFCS – E & R: Gross Motor Function Classification System, Expanded and Revised[EB/OL]. CanChild Centre for Childhood Disability Research（McMaster University）, 2007. (访问于 2026-10-17).　CanChild 的使用许可不允许公开转载分级描述全文，页面上只写各级标题的大意与使用说明。
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  510. M. Rhonda Folio, Rebecca R. Fewell. Peabody Developmental Motor Scales, Second Edition (PDMS-2)[EB/OL]. Pearson Assessments, 2000. (访问于 2026-09-25).　用于核对第二版量表的运动评估范围及出生至未满 6 岁的适用年龄；选择工具时仍需考虑版本、常模与儿童情况。引用于：高危儿与早产儿早期干预、儿童脑瘫康复
  511. U.S. Food and Drug Administration. Drugs@FDA: INOMAX (nitric oxide), NDA 020845[EB/OL]. Drugs@FDA, 1999. (访问于 2026-10-07).　原始新药申请的批准日期为 1999 年 12 月 23 日。引用于：新生儿持续肺动脉高压
  512. 宝秀兰医疗. "医"路有爱，守护花开——宝秀兰医疗携手漯河市第二人民医院、漯河市儿童医院开展大型儿童健康义诊活动（2024-11-15）[EB/OL]. 宝秀兰医疗.引用于：合作机构
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  515. 百度百科. 鲍秀兰（中国协和医科大学儿科教授）[EB/OL]. 百度百科. (访问于 2026-09-07).　三级来源，与同名词条区分引用于：鲍秀兰教授
  516. 北京协和医院. 鲍秀兰（专家介绍）[EB/OL]. 北京协和医院官网. (访问于 2026-09-07).引用于：机构沿革、鲍秀兰教授、NBNA 方法页
  517. 好大夫在线. 鲍秀兰医生简介[EB/OL]. 好大夫在线. (访问于 2026-09-07).引用于：鲍秀兰教授
  518. 第十一届应用行为分析教师（CNABA 丙级）培训班招生简章[EB/OL]. 中国精协孤独症工作委员会主办，承办方网站 ccaba.com.cn. (访问于 2026-09-30).引用于：应用行为分析（ABA）、回合式教学（DTT）、康复与干预方法
  519. 刘维民. 肌张力高是脑瘫？低是唐氏？关于肌张力家长最关心的 10 个问题[EB/OL]. 丁香医生. (访问于 2026-09-22).引用于：媒体报道与公开发表
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  525. 中国优生优育协会. 婴幼儿发育专业委员会（委员名单）[EB/OL]. 中国优生优育协会. (访问于 2026-09-07).引用于：机构沿革、合作机构、鲍秀兰教授
  526. 运动疗法[EB/OL]. 中国康复研究中心. (访问于 2026-10-02).　健康科普栏目，按体位介绍脑瘫儿童的家庭训练。引用于：姿势管理与体位摆放
  527. 中国康复研究中心成功举办第二届脑瘫儿童神经发育疗法（BOBATH）培训班[EB/OL]. 首都医科大学新闻网. (访问于 2026-09-30).引用于：Bobath 疗法（NDT）
  528. Semmelweis University András Pető Faculty. About Conductive Education[EB/OL]. semmelweis.hu. (访问于 2026-09-30).引用于：引导式教育（CE）
  529. TEACCH Autism Program. About Us[EB/OL]. UNC School of Medicine, The University of North Carolina at Chapel Hill. (访问于 2026-09-30).引用于：结构化教学（TEACCH）
  530. ESDM Training Program, UC Davis MIND Institute. Apprentice Trainer Certification[EB/OL]. esdm.co. (访问于 2026-09-30).引用于：早期介入丹佛模式（ESDM）
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  545. International Behavior Analysis Organization. International Behavior Analysis Organization[EB/OL]. theibao.com. (访问于 2026-09-30).引用于：应用行为分析（ABA）
  546. Behavior Analyst Certification Board. International Development & Support[EB/OL]. bacb.com. (访问于 2026-09-30).引用于：应用行为分析（ABA）、康复与干预方法
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  548. The Hanen Centre. It Takes Two to Talk® Program for Parents of Children with Language Delays[EB/OL]. hanen.org. (访问于 2026-09-30).　课程版权方官网引用于：家长实施的语言干预
  549. The Hanen Centre. It Takes Two to Talk® workshop[EB/OL]. hanen.org. (访问于 2026-09-30).引用于：家长介导干预、家长实施的语言干预
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  551. American Speech-Language-Hearing Association. Late Language Emergence[EB/OL]. ASHA Practice Portal. (访问于 2026-09-30).引用于：家长实施的语言干预、辅助与替代沟通（AAC）、语言发育迟缓与构音障碍的训练方法
  552. The Hanen Centre. More Than Words® workshop[EB/OL]. hanen.org. (访问于 2026-09-30).引用于：家长介导干预
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  566. RDIconnect. RDI Professional Autism Certification Program[EB/OL]. rdiconnect.com. (访问于 2026-09-30).引用于：人际关系发展干预（RDI）
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  569. Gray C. Social Stories™[EB/OL]. carolgraysocialstories.com. (访问于 2026-09-30).引用于：社交故事
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  578. Triple P International. Triple P in a nutshell[EB/OL]. triplep.net. (访问于 2026-09-30).引用于：家长行为管理培训（PMT）
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  582. International Council on Development and Learning. What is DIR®?[EB/OL]. icdl.com. (访问于 2026-09-30).引用于：地板时光（DIR）
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文章参考文献417

育儿课堂各篇文章末尾列出的参考文献，按文章归组。

早产儿智力会受影响吗：长大后能和足月儿一样吗

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一岁不会说话正常吗：1 岁该会什么，什么时候要评估

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宝宝几个月会说话：0–2 岁语言发育时间表

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宝宝语言启蒙怎么做：0–3 岁在家怎样和宝宝说话

  1. 国家卫生健康委办公厅. 3 岁以下婴幼儿健康养育照护指南（试行）（国卫办妇幼函〔2022〕409 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).
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宝宝肌张力高怎么办：是不是脑瘫，要不要康复训练

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脑白质发育落后是什么：核磁报告写髓鞘化延迟要紧吗

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新生儿脑损伤会脑瘫吗：脑白质软化、缺氧缺血性脑病怎么随访

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  6. Novak I, Morgan C, Adde L, 等. Early, accurate diagnosis and early intervention in cerebral palsy: advances in diagnosis and treatment[J]. JAMA Pediatrics, 2017, 171(9): 897-907. DOI: 10.1001/jamapediatrics.2017.1689.
  7. 李晓捷, 唐久来, 马丙祥, 等. 脑性瘫痪的定义、诊断标准及临床分型[J]. 中华实用儿科临床杂志, 2014, 29(19): 1520. DOI: 10.3760/cma.j.issn.2095-428X.2014.19.024.
  8. 中国医师协会儿科医师分会儿童保健学组. NICU出院高危儿0～3岁生长发育随访管理技术的专家共识[J]. 中国儿童保健杂志, 2021, 29(8): 809-814. DOI: 10.11852/zgetbjzz2020-2035.
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大运动落后要康复吗：运动发育迟缓能追上吗

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一岁不会扶站正常吗：扶站、独站与腿软站不住

  1. WHO Multicentre Growth Reference Study Group. WHO Motor Development Study: windows of achievement for six gross motor development milestones[J]. Acta Paediatrica Supplement, 2006, 450: 86-95. DOI: 10.1111/j.1651-2227.2006.tb02379.x.
  2. 国家卫生健康委办公厅. 0～6 岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).
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脑瘫分型有哪些：痉挛型、不随意运动型怎么分，GMFCS 几级能走

  1. 李晓捷, 唐久来, 马丙祥, 等. 脑性瘫痪的定义、诊断标准及临床分型[J]. 中华实用儿科临床杂志, 2014, 29(19): 1520. DOI: 10.3760/cma.j.issn.2095-428X.2014.19.024.
  2. 中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2022）第一章：概论[J]. 中华实用儿科临床杂志, 2022, 37(12): 887-892.
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  5. Cerebral palsy in under 25s: assessment and management (NG62)[EB/OL]. National Institute for Health and Care Excellence, 2017. (访问于 2026-09-25).
  6. CanChild Centre for Childhood Disability Research. Manual Ability Classification System (MACS)[EB/OL]. CanChild Centre for Childhood Disability Research（McMaster University）, 2025. (访问于 2026-10-08).
  7. 中国残疾人联合会, 国家卫生和计划生育委员会. 中华人民共和国残疾人证管理办法[S]. 岳阳市君山区人民政府网站（地方政府转发文件附件 1）, 2017. (访问于 2026-10-17).

脑瘫孩子智力正常吗：语言、吞咽、癫痫等伴随问题怎么查

  1. 李晓捷, 唐久来, 马丙祥, 等. 脑性瘫痪的定义、诊断标准及临床分型[J]. 中华实用儿科临床杂志, 2014, 29(19): 1520. DOI: 10.3760/cma.j.issn.2095-428X.2014.19.024.
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  3. Spasticity in under 19s: management (CG145)[EB/OL]. National Institute for Health and Care Excellence, 2012. (访问于 2026-09-25).
  4. 国务院. 残疾人教育条例（国务院令第 674 号）[S]. 中国政府网, 2017. (访问于 2026-10-17).

脑瘫儿童康复救助和残疾证：能申请哪些补助，脑瘫是几级残疾

  1. 国务院. 国务院关于建立残疾儿童康复救助制度的意见（国发〔2018〕20 号）[S]. 中国政府网, 2018. (访问于 2026-09-30).
  2. 北京市残疾人联合会, 北京市教育委员会, 北京市财政局, 北京市民政局, 北京市卫生健康委员会. 关于印发《北京市残疾儿童康复服务办法》的通知[S]. 首都之窗（北京市人民政府门户网站）政策文件, 2019. (访问于 2026-10-08).
  3. 北京市残疾人联合会. 关于印发《北京市残疾儿童康复服务办法实施细则》的通知[S]. 北京市残疾人联合会网站 政策法规—康复, 2020. (访问于 2026-10-08).
  4. 中国残疾人联合会, 国家卫生和计划生育委员会. 中华人民共和国残疾人证管理办法[S]. 岳阳市君山区人民政府网站（地方政府转发文件附件 1）, 2017. (访问于 2026-10-17).
  5. 湖南省残疾人联合会, 湖南省卫生和计划生育委员会. 湖南省残疾人证管理办法实施细则[S]. 岳阳市君山区人民政府网站（地方政府转发文件附件 2）, 2018. (访问于 2026-10-17).
  6. Palisano R, Rosenbaum P, Bartlett D, Livingston M. GMFCS – E & R: Gross Motor Function Classification System, Expanded and Revised[EB/OL]. CanChild Centre for Childhood Disability Research（McMaster University）, 2007. (访问于 2026-10-17).

一岁不会走路正常吗：到几个月还不会走需要评估

  1. WHO Multicentre Growth Reference Study Group. WHO Motor Development Study: windows of achievement for six gross motor development milestones[J]. Acta Paediatrica Supplement, 2006, 450: 86-95. DOI: 10.1111/j.1651-2227.2006.tb02379.x.
  2. 国家卫生健康委办公厅. 0～6 岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).
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  4. Suspected neurological conditions: recognition and referral (NG127): recommendations for children aged under 16[EB/OL]. National Institute for Health and Care Excellence, 2019. (访问于 2026-09-25).
  5. 国家卫生计生委. 0 岁～6 岁儿童发育行为评估量表 WS/T 580—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).
  6. 中华医学会儿科学分会神经学组, 中国医师协会神经内科分会儿童神经疾病专业委员会. 儿童智力障碍或全面发育迟缓病因诊断策略专家共识[J]. 中华儿科杂志, 2018, 56(11): 806-810. DOI: 10.3760/cma.j.issn.0578-1310.2018.11.003.
  7. 北京市卫生和计划生育委员会, 北京市残疾人联合会, 北京市财政局. 北京市卫生和计划生育委员会 北京市残疾人联合会 北京市财政局关于开展 0-6岁儿童残疾筛查工作的通知[S]. 北京市卫生健康委员会网站 政策文件, 2018. (访问于 2026-10-08).
  8. 北京市卫生和计划生育委员会. 北京市卫生和计划生育委员会关于落实《早产儿保健工作规范》的通知[S]. 北京市卫生健康委员会网站, 2018. (访问于 2026-10-08).
  9. Baby Walkers: A Dangerous Choice[EB/OL]. American Academy of Pediatrics — HealthyChildren.org, 2022. (访问于 2026-09-25).

脑瘫儿早期干预方法：什么时候开始，0–2 岁做什么

  1. 中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2022）第一章：概论[J]. 中华实用儿科临床杂志, 2022, 37(12): 887-892.
  2. 中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2022）第二章：脑性瘫痪高危儿的评定与干预[J]. 中华实用儿科临床杂志, 2022, 37(13): 974-982. DOI: 10.3760/cma.j.cn101070-20220519-00574.
  3. 中国康复医学会儿童康复专业委员会, 中国残疾人康复协会小儿脑性瘫痪康复专业委员会, 中国医师协会康复医师分会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南(2022)第四章：康复治疗(上)[J]. 中华实用儿科临床杂志, 2022, 37(16): 1201-1229. DOI: 10.3760/cma.j.cn101070-20220711-00850.
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  5. 张建奎, 李晓捷, 唐久来, 等. 中国脑性瘫痪康复指南(2022)核心内容解读[J]. 中华实用儿科临床杂志, 2022, 37(24): 1841-1853. DOI: 10.3760/cma.j.cn101070-20221118-01309.
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  7. 唐久来, 王宝田, 李晓捷. 脑性瘫痪早期诊断和脑性瘫痪高风险儿诊断及早期干预进展[J]. 中华实用儿科临床杂志, 2018, 33(15): 1121-1125. DOI: 10.3760/cma.j.issn.2095-428X.2018.15.001.
  8. 国家卫生健康委办公厅. 婴幼儿早期发展服务指南（试行）（国卫办妇幼函〔2024〕467 号）[S]. 中国政府网, 2024. (访问于 2026-10-02).
  9. Morgan C, Fetters L, Adde L, 等. Early intervention for children aged 0 to 2 years with or at high risk of cerebral palsy: international clinical practice guideline based on systematic reviews[J]. JAMA Pediatrics, 2021, 175(8): 846-858. DOI: 10.1001/jamapediatrics.2021.0878.
  10. Novak I, Morgan C, Adde L, 等. Early, accurate diagnosis and early intervention in cerebral palsy: advances in diagnosis and treatment[J]. JAMA Pediatrics, 2017, 171(9): 897-907. DOI: 10.1001/jamapediatrics.2017.1689.

脑瘫高危儿是什么意思：属于脑瘫吗，诊断标准与评估

  1. 中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2022）第一章：概论[J]. 中华实用儿科临床杂志, 2022, 37(12): 887-892.
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  4. 唐久来, 王宝田, 李晓捷. 脑性瘫痪早期诊断和脑性瘫痪高风险儿诊断及早期干预进展[J]. 中华实用儿科临床杂志, 2018, 33(15): 1121-1125. DOI: 10.3760/cma.j.issn.2095-428X.2018.15.001.
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  6. 中华预防医学会儿童保健分会, 中国疾病预防控制中心妇幼保健中心, 中国妇幼保健协会高危儿童健康管理专委会. 高危儿规范化健康管理专家共识[J]. 中国儿童保健杂志, 2023, 31(6): 581-585. DOI: 10.11852/zgetbjzz2023-0347.
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  12. 中国医师协会儿科医师分会儿童保健学组. NICU出院高危儿0～3岁生长发育随访管理技术的专家共识[J]. 中国儿童保健杂志, 2021, 29(8): 809-814. DOI: 10.11852/zgetbjzz2020-2035.

儿童偏瘫康复治疗：小儿偏瘫怎么训练，要康复到几岁

  1. 中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2022）第一章：概论[J]. 中华实用儿科临床杂志, 2022, 37(12): 887-892.
  2. 中华医学会儿科学分会康复学组. 儿童脑性瘫痪运动障碍的康复建议[J]. 中华儿科杂志, 2020, 58(2): 91-95. DOI: 10.3760/cma.j.issn.0578-1310.2020.02.005.
  3. 中国康复医学会儿童康复专业委员会, 中国残疾人康复协会小儿脑性瘫痪康复专业委员会, 中国医师协会康复医师分会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南(2022)第三章：ICF-CY框架下的儿童脑瘫评定[J]. 中华实用儿科临床杂志, 2022, 37(15): 1121-1141. DOI: 10.3760/cma.j.cn101070-20220621-00746.
  4. 中国康复医学会儿童康复专业委员会, 中国残疾人康复协会小儿脑性瘫痪康复专业委员会, 中国医师协会康复医师分会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南(2022)第四章：康复治疗(上)[J]. 中华实用儿科临床杂志, 2022, 37(16): 1201-1229. DOI: 10.3760/cma.j.cn101070-20220711-00850.
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  6. 中国康复医学会儿童康复专业委员会, 中国残疾人康复协会小儿脑性瘫痪康复专业委员会, 中国医师协会康复医师分会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南(2022)第七章：康复途径及管理[J]. 中华实用儿科临床杂志, 2022, 37(20): 1521-1526. DOI: 10.3760/cma.j.cn101070-20220919-01094.
  7. 中国医师协会新生儿科医师分会神经专业委员会. 新生儿动脉缺血性脑卒中临床诊治专家共识[J]. 中国当代儿科杂志, 2017, 19(6): 611-613. DOI: 10.7499/j.issn.1008-8830.2017.06.001.
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宝宝只用一只手抓东西正常吗：和偏瘫有关吗，几个月要评估

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偏瘫型脑瘫是什么：小儿偏瘫属于脑瘫吗

  1. 李晓捷, 唐久来, 马丙祥, 等. 脑性瘫痪的定义、诊断标准及临床分型[J]. 中华实用儿科临床杂志, 2014, 29(19): 1520. DOI: 10.3760/cma.j.issn.2095-428X.2014.19.024.
  2. 中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2022）第一章：概论[J]. 中华实用儿科临床杂志, 2022, 37(12): 887-892.
  3. 中国医师协会新生儿科医师分会神经专业委员会. 新生儿动脉缺血性脑卒中临床诊治专家共识[J]. 中国当代儿科杂志, 2017, 19(6): 611-613. DOI: 10.7499/j.issn.1008-8830.2017.06.001.
  4. He Y, Tang J, Zhang M, 等. Clinical practice guideline for the diagnosis and treatment of neonatal arterial ischemic stroke (2026)[J]. Chinese Medical Journal, 2026, 139(18): 2687-2689. DOI: 10.1097/CM9.0000000000004227.
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  6. Cerebral palsy in under 25s: assessment and management (NG62)[EB/OL]. National Institute for Health and Care Excellence, 2017. (访问于 2026-09-25).
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早产儿康复训练：都要做吗、有哪些项目、做到几岁

  1. 国家卫生计生委办公厅. 早产儿保健工作规范（国卫办妇幼发〔2017〕9 号）[S]. 国家卫生计生委, 2017. (访问于 2026-09-25).
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  4. 中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2022）第二章：脑性瘫痪高危儿的评定与干预[J]. 中华实用儿科临床杂志, 2022, 37(13): 974-982. DOI: 10.3760/cma.j.cn101070-20220519-00574.
  5. 中国优生优育协会婴幼儿发育专业委员会. 高危新生儿行为神经发育早期干预专家共识[J]. 中国儿童保健杂志, 2022, 30(3): 233-236. DOI: 10.11852/zgetbjzz2021-0625.
  6. Bao X, Sun S, Wei S. Early intervention promotes intellectual development of premature infants: a preliminary report[J]. Chinese Medical Journal, 1999, 112(6): 520-523.
  7. 国务院. 国务院关于建立残疾儿童康复救助制度的意见（国发〔2018〕20 号）[S]. 中国政府网, 2018. (访问于 2026-09-30).

早产儿随访到几岁：随访时间和频次，结案指什么

  1. 国家卫生计生委办公厅. 早产儿保健工作规范（国卫办妇幼发〔2017〕9 号）[S]. 国家卫生计生委, 2017. (访问于 2026-09-25).
  2. 中国医师协会新生儿科医师分会早产儿专业委员会, 中华儿科杂志编辑委员会. 早产儿出院后随访与健康管理专家共识（2025）[J]. 中华儿科杂志, 2025, 63(7): 721-736. DOI: 10.3760/cma.j.cn112140-20250117-00050.
  3. 北京市卫生和计划生育委员会. 北京市卫生和计划生育委员会关于落实《早产儿保健工作规范》的通知[S]. 北京市卫生健康委员会网站, 2018. (访问于 2026-10-08).
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  5. 中华预防医学会儿童保健分会, 中国疾病预防控制中心妇幼保健中心, 中国妇幼保健协会高危儿童健康管理专委会. 高危儿规范化健康管理专家共识[J]. 中国儿童保健杂志, 2023, 31(6): 581-585. DOI: 10.11852/zgetbjzz2023-0347.
  6. 中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2022）第二章：脑性瘫痪高危儿的评定与干预[J]. 中华实用儿科临床杂志, 2022, 37(13): 974-982. DOI: 10.3760/cma.j.cn101070-20220519-00574.

高危儿诊断标准：高危儿是诊断吗，由谁制定、怎么分类

  1. 卫生部办公厅. 新生儿访视技术规范（《新生儿访视等儿童保健技术规范》附件 1，卫办妇社发〔2012〕49 号）[S]. 卫生部, 2012. (访问于 2026-10-08).
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  4. 中华预防医学会儿童保健分会, 中国疾病预防控制中心妇幼保健中心, 中国妇幼保健协会高危儿童健康管理专委会. 高危儿规范化健康管理专家共识[J]. 中国儿童保健杂志, 2023, 31(6): 581-585. DOI: 10.11852/zgetbjzz2023-0347.
  5. 国家卫生计生委办公厅. 早产儿保健工作规范（国卫办妇幼发〔2017〕9 号）[S]. 国家卫生计生委, 2017. (访问于 2026-09-25).
  6. 中国优生优育协会婴幼儿发育专业委员会. 高危新生儿行为神经发育早期干预专家共识[J]. 中国儿童保健杂志, 2022, 30(3): 233-236. DOI: 10.11852/zgetbjzz2021-0625.
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  8. 中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2022）第二章：脑性瘫痪高危儿的评定与干预[J]. 中华实用儿科临床杂志, 2022, 37(13): 974-982. DOI: 10.3760/cma.j.cn101070-20220519-00574.
  9. 中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2022）第一章：概论[J]. 中华实用儿科临床杂志, 2022, 37(12): 887-892.
  10. 张建奎, 李晓捷, 唐久来, 等. 中国脑性瘫痪康复指南(2022)核心内容解读[J]. 中华实用儿科临床杂志, 2022, 37(24): 1841-1853. DOI: 10.3760/cma.j.cn101070-20221118-01309.
  11. 张悦. 我国儿童保健工作中高危儿管理内涵和外延的探析[J]. 中国儿童保健杂志, 2019, 27(2): 123-125. DOI: 10.11852/zgetbjzz2018-1853.
  12. 中华医学会儿科学分会康复学组. 新生儿重症监护病房神经行为发育评估方法专家指导意见[J]. 中国实用儿科杂志, 2017, 32(11): 801-806. DOI: 10.19538/j.ek2017110601.
  13. 北京市卫生和计划生育委员会. 北京市卫生和计划生育委员会关于落实《早产儿保健工作规范》的通知[S]. 北京市卫生健康委员会网站, 2018. (访问于 2026-10-08).
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北京儿童康复治疗：康复机构有哪些类型、资质怎么查

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  2. 北京市残疾人联合会, 北京市民政局, 北京市市场监督管理局. 北京市残疾儿童康复服务定点机构协议管理办法（试行）[S]. 首都之窗 政策文件, 2024. (访问于 2026-10-08).
  3. 中国康复医学会儿童康复专业委员会, 中国残疾人康复协会小儿脑性瘫痪康复专业委员会, 中国医师协会康复医师分会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南(2022)第七章：康复途径及管理[J]. 中华实用儿科临床杂志, 2022, 37(20): 1521-1526. DOI: 10.3760/cma.j.cn101070-20220919-01094.
  4. 北京市残疾人联合会, 北京市教育委员会, 北京市财政局, 北京市民政局, 北京市卫生健康委员会. 关于印发《北京市残疾儿童康复服务办法》的通知[S]. 首都之窗（北京市人民政府门户网站）政策文件, 2019. (访问于 2026-10-08).
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儿童全面发育迟缓需要做哪些检查？病因评估与就医指南

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发育迟缓和自闭症（孤独症）有什么区别

  1. 国家儿童医学中心, 首都医科大学附属北京儿童医院保健中心, 等. 中国全面发育迟缓诊断指南（2024）[J]. 中华实用儿科临床杂志, 2024, 39(7): 481-489. DOI: 10.3760/cma.j.cn101070-20240426-00262.
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  4. 中华医学会儿科学分会发育行为学组, 中国医师协会儿科分会儿童保健专业委员会, 儿童孤独症诊断与防治技术和标准研究项目专家组. 孤独症谱系障碍儿童早期识别筛查和早期干预专家共识[J]. 中华儿科杂志, 2017, 55(12): 890-897. DOI: 10.3760/cma.j.issn.0578-1310.2017.12.004.
  5. 中华医学会儿科学分会神经学组, 中国医师协会神经内科分会儿童神经疾病专业委员会. 儿童智力障碍或全面发育迟缓病因诊断策略专家共识[J]. 中华儿科杂志, 2018, 56(11): 806-810. DOI: 10.3760/cma.j.issn.0578-1310.2018.11.003.
  6. 国家卫生健康委办公厅. 0～6 岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).
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宝宝不看人、眼神交流少，是孤独症吗？

  1. 中华医学会儿科学分会发育行为学组, 中国医师协会儿科分会儿童保健专业委员会, 儿童孤独症诊断与防治技术和标准研究项目专家组. 孤独症谱系障碍儿童早期识别筛查和早期干预专家共识[J]. 中华儿科杂志, 2017, 55(12): 890-897. DOI: 10.3760/cma.j.issn.0578-1310.2017.12.004.
  2. 国家卫生健康委办公厅. 0～6 岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).
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  4. 国家卫生计生委. 国家基本公共卫生服务规范（第三版）：0～6 岁儿童健康管理服务规范（国卫基层发〔2017〕13 号）[S]. 国家卫生计生委, 2017. (访问于 2026-09-07).
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  6. Centers for Disease Control and Prevention. CDC’s Developmental Milestones（Learn the Signs. Act Early.）[EB/OL]. U.S. Centers for Disease Control and Prevention, 2022. (访问于 2026-09-10).
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宝宝入睡困难、夜醒频繁，可以先调整什么？

  1. 国家卫生计生委. 0 岁～5 岁儿童睡眠卫生指南 WS/T 579—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).
  2. Paruthi S, Brooks L J, D’Ambrosio C, 等. Recommended amount of sleep for pediatric populations: a consensus statement of the American Academy of Sleep Medicine[J]. Journal of Clinical Sleep Medicine, 2016, 12(6): 785-786. DOI: 10.5664/jcsm.5866.
  3. 中华人民共和国教育部. 3-6 岁儿童学习与发展指南（教基二〔2012〕4 号）[S]. 中华人民共和国教育部, 2012. (访问于 2026-09-10).
  4. 中国儿童 OSA 诊断与治疗指南制订工作组, 中华医学会耳鼻咽喉头颈外科学分会小儿学组, 中华医学会儿科学分会呼吸学组, 等. 中国儿童阻塞性睡眠呼吸暂停诊断与治疗指南（2020）[J]. 中华耳鼻咽喉头颈外科杂志, 2020, 55(8): 729-747. DOI: 10.3760/cma.j.cn115330-20200521-00431.

精细动作发育：几岁该会什么，日常里怎么练

  1. 国家卫生计生委办公厅. 儿童心理保健技术规范（含儿童心理行为发育问题预警征象筛查表）[S]. 国家卫生计生委, 2013. (访问于 2026-09-07).
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  4. 中华人民共和国教育部. 3-6 岁儿童学习与发展指南（教基二〔2012〕4 号）[S]. 中华人民共和国教育部, 2012. (访问于 2026-09-10).
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第一次去儿童发育门诊，要准备什么

  1. 国家卫生计生委办公厅. 儿童心理保健技术规范（含儿童心理行为发育问题预警征象筛查表）[S]. 国家卫生计生委, 2013. (访问于 2026-09-07).
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  4. 中华医学会儿科学分会新生儿学组, 中华儿科杂志编辑委员会. 高危新生儿分类分级管理专家共识（2023）[J]. 中华儿科杂志, 2023, 61(10): 869-873. DOI: 10.3760/cma.j.cn112140-20230630-00434.
  5. 国家卫生计生委. 0 岁～6 岁儿童发育行为评估量表 WS/T 580—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).
  6. Lipkin PH, Macias MM. Promoting optimal development: identifying infants and young children with developmental disorders through developmental surveillance and screening[J]. Pediatrics, 2020, 145(1): e20193449.
  7. 国家卫生健康委办公厅. 0～6 岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).

大运动发育顺序：各月龄该会什么，范围有多宽

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  2. Zubler JM, Wiggins LD, Macias MM, 等. Evidence-Informed Milestones for Developmental Surveillance Tools[J]. Pediatrics, 2022, 149(3): e2021052138. DOI: 10.1542/peds.2021-052138.
  3. Centers for Disease Control and Prevention. CDC’s Developmental Milestones（Learn the Signs. Act Early.）[EB/OL]. U.S. Centers for Disease Control and Prevention, 2022. (访问于 2026-09-10).
  4. 国家卫生计生委办公厅. 儿童心理保健技术规范（含儿童心理行为发育问题预警征象筛查表）[S]. 国家卫生计生委, 2013. (访问于 2026-09-07).
  5. 国家儿童医学中心, 首都医科大学附属北京儿童医院保健中心, 等. 中国全面发育迟缓诊断指南（2024）[J]. 中华实用儿科临床杂志, 2024, 39(7): 481-489. DOI: 10.3760/cma.j.cn101070-20240426-00262.
  6. 国家卫生计生委办公厅. 早产儿保健工作规范（国卫办妇幼发〔2017〕9 号）[S]. 国家卫生计生委, 2017. (访问于 2026-09-25).
  7. 国家卫生计生委. 0 岁～6 岁儿童发育行为评估量表 WS/T 580—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).

居家康复训练能代替到院康复吗？家长在家配合什么

  1. Roberts MY, Curtis PR, Sone BJ, 等. Association of parent training with child language development: a systematic review and meta-analysis[J]. JAMA Pediatrics, 2019, 173(7): 671-680. DOI: 10.1001/jamapediatrics.2019.1197.
  2. Oono IP, Honey EJ, McConachie H. Parent-mediated early intervention for young children with autism spectrum disorders (ASD)[J]. Cochrane Database of Systematic Reviews, 2013, (4): CD009774.
  3. Morgan C, Fetters L, Adde L, 等. Early intervention for children aged 0 to 2 years with or at high risk of cerebral palsy: international clinical practice guideline based on systematic reviews[J]. JAMA Pediatrics, 2021, 175(8): 846-858. DOI: 10.1001/jamapediatrics.2021.0878.
  4. 国家卫生计生委办公厅. 早产儿保健工作规范（国卫办妇幼发〔2017〕9 号）[S]. 国家卫生计生委, 2017. (访问于 2026-09-25).
  5. 国家卫生健康委办公厅. 3 岁以下婴幼儿健康养育照护指南（试行）（国卫办妇幼函〔2022〕409 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).
  6. World Health Organization, UNICEF, World Bank Group. Nurturing care for early childhood development: a framework for helping children survive and thrive to transform health and human potential[M]. World Health Organization, 2018.
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入园能力评估：上幼儿园前要先看哪几样

  1. 中华人民共和国教育部. 3-6 岁儿童学习与发展指南（教基二〔2012〕4 号）[S]. 中华人民共和国教育部, 2012. (访问于 2026-09-10).
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  4. 国家卫生计生委. 国家基本公共卫生服务规范（第三版）：0～6 岁儿童健康管理服务规范（国卫基层发〔2017〕13 号）[S]. 国家卫生计生委, 2017. (访问于 2026-09-07).
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  6. 国家卫生健康委办公厅. 0～6 岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).
  7. World Health Organization. International Classification of Functioning, Disability and Health: Children & Youth Version (ICF-CY)[M]. World Health Organization, 2007. ISBN 9789241547321.

孩子不合群、不跟小朋友玩，是发育问题吗

  1. Zubler JM, Wiggins LD, Macias MM, 等. Evidence-Informed Milestones for Developmental Surveillance Tools[J]. Pediatrics, 2022, 149(3): e2021052138. DOI: 10.1542/peds.2021-052138.
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  3. 中华人民共和国教育部. 3-6 岁儿童学习与发展指南（教基二〔2012〕4 号）[S]. 中华人民共和国教育部, 2012. (访问于 2026-09-10).
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  5. 中华医学会儿科学分会发育行为学组, 中国医师协会儿科分会儿童保健专业委员会, 儿童孤独症诊断与防治技术和标准研究项目专家组. 孤独症谱系障碍儿童早期识别筛查和早期干预专家共识[J]. 中华儿科杂志, 2017, 55(12): 890-897. DOI: 10.3760/cma.j.issn.0578-1310.2017.12.004.
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发育评估报告怎么看：发育商、月龄当量是什么

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  3. 徐姗姗, 等. 贝莉婴幼儿发育量表-第三版评价上海市婴幼儿发育水平的应用初探[J]. 中国儿童保健杂志, 2011, 19(1): 30-32.
  4. 卞晓燕, 姚国英, Squires J, 等. 年龄与发育进程问卷上海市儿童常模及心理测量学特性研究[J]. 中华儿科杂志, 2010, 48(7): 492-496.
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儿童康复训练一周做几次？频次是怎么定的

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感统训练什么情况下需要做，什么情况下不需要

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  7. 中华医学会儿科学分会康复学组. 儿童康复相关发育性疾病的命名现状与建议[J]. 中国全科医学, 2022, 25(8): 899-904. DOI: 10.12114/j.issn.1007-9572.2022.01.301.
  8. 中华医学会儿科学分会发育行为学组. 注意缺陷多动障碍早期识别、规范诊断和治疗的儿科专家共识[J]. 中华儿科杂志, 2020, 58(3): 188-193. DOI: 10.3760/cma.j.issn.0578-1310.2020.03.006.
  9. 国家卫生健康委办公厅. 0～6 岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).

婴儿睡眠时间该有多长？0～6 岁各年龄的范围

  1. 国家卫生计生委. 0 岁～5 岁儿童睡眠卫生指南 WS/T 579—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).
  2. Paruthi S, Brooks L J, D’Ambrosio C, 等. Recommended amount of sleep for pediatric populations: a consensus statement of the American Academy of Sleep Medicine[J]. Journal of Clinical Sleep Medicine, 2016, 12(6): 785-786. DOI: 10.5664/jcsm.5866.
  3. 中华人民共和国教育部. 3-6 岁儿童学习与发展指南（教基二〔2012〕4 号）[S]. 中华人民共和国教育部, 2012. (访问于 2026-09-10).
  4. 国家卫生计生委办公厅. 早产儿保健工作规范（国卫办妇幼发〔2017〕9 号）[S]. 国家卫生计生委, 2017. (访问于 2026-09-25).
  5. 中国儿童 OSA 诊断与治疗指南制订工作组, 中华医学会耳鼻咽喉头颈外科学分会小儿学组, 中华医学会儿科学分会呼吸学组, 等. 中国儿童阻塞性睡眠呼吸暂停诊断与治疗指南（2020）[J]. 中华耳鼻咽喉头颈外科杂志, 2020, 55(8): 729-747. DOI: 10.3760/cma.j.cn115330-20200521-00431.

儿童打鼾、张口呼吸，要不要去就诊？

  1. 中国儿童 OSA 诊断与治疗指南制订工作组, 中华医学会耳鼻咽喉头颈外科学分会小儿学组, 中华医学会儿科学分会呼吸学组, 等. 中国儿童阻塞性睡眠呼吸暂停诊断与治疗指南（2020）[J]. 中华耳鼻咽喉头颈外科杂志, 2020, 55(8): 729-747. DOI: 10.3760/cma.j.cn115330-20200521-00431.
  2. 国家卫生计生委. 0 岁～5 岁儿童睡眠卫生指南 WS/T 579—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).
  3. Paruthi S, Brooks L J, D’Ambrosio C, 等. Recommended amount of sleep for pediatric populations: a consensus statement of the American Academy of Sleep Medicine[J]. Journal of Clinical Sleep Medicine, 2016, 12(6): 785-786. DOI: 10.5664/jcsm.5866.

宝宝走路踮脚、内八字、扁平足要紧吗：什么情况要看医生

  1. WHO Multicentre Growth Reference Study Group. WHO Motor Development Study: windows of achievement for six gross motor development milestones[J]. Acta Paediatrica Supplement, 2006, 450: 86-95. DOI: 10.1111/j.1651-2227.2006.tb02379.x.
  2. 国家卫生计生委. 0 岁～6 岁儿童发育行为评估量表 WS/T 580—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).
  3. 国家卫生健康委办公厅. 0～6 岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).
  4. Cerebral palsy in under 25s: assessment and management (NG62)[EB/OL]. National Institute for Health and Care Excellence, 2017. (访问于 2026-09-25).
  5. Engström P, Tedroff K. The prevalence and course of idiopathic toe-walking in 5-year-old children[J]. Pediatrics, 2012, 130(2): 279-284. DOI: 10.1542/peds.2012-0225.
  6. Staheli L T, Corbett M, Wyss C, 等. Lower-extremity rotational problems in children: normal values to guide management[J]. The Journal of Bone and Joint Surgery (American Volume), 1985, 67(1): 39-47. DOI: 10.2106/00004623-198567010-00006.
  7. Carr J B, Yang S, Lather L A. Pediatric pes planus: a state-of-the-art review[J]. Pediatrics, 2016, 137(3): e20151230. DOI: 10.1542/peds.2015-1230.
  8. Suspected neurological conditions: recognition and referral (NG127): recommendations for children aged under 16[EB/OL]. National Institute for Health and Care Excellence, 2019. (访问于 2026-09-25).
  9. 北京市卫生和计划生育委员会. 北京市卫生和计划生育委员会关于落实《早产儿保健工作规范》的通知[S]. 北京市卫生健康委员会网站, 2018. (访问于 2026-10-08).

会回答问题，为什么不主动聊天

  1. 中华医学会儿科学分会发育行为学组, 中国医师协会儿科分会儿童保健专业委员会, 等. 孤独症谱系障碍儿童早期识别筛查和早期干预专家共识[J]. 中华儿科杂志, 2017, 55(12): 890-897.
  2. 国家卫生和计划生育委员会办公厅. 儿童心理保健技术规范（卫办妇社发〔2013〕26号附件）[EB/OL]. 2013-04-15.
  3. 国家卫生健康委办公厅. 0～6岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12号）[EB/OL]. 2022-08-23.
  4. 中华医学会物理医学与康复学分会言语语言康复学组, 中国康复医学会言语康复专业委员会, 中华医学会儿科学分会康复学组. 发展性语言障碍早期识别专家建议（2025）[J]. 中华儿科杂志, 2025, 63(6): 600-605.

吃糖会影响孩子的大脑发育吗？

  1. World Health Organization. Guideline: sugars intake for adults and children[EB/OL]. Geneva: WHO, 2015.
  2. 中国营养学会. 中国居民膳食指南（2022）[M]. 北京: 人民卫生出版社, 2022.
  3. Vos M B, et al. Added sugars and cardiovascular disease risk in children: a scientific statement from the American Heart Association[J]. Circulation, 2017, 135(19): e1017-e1034.
  4. Wolraich M L, Wilson D B, White J W. The effect of sugar on behavior or cognition in children: a meta-analysis[J]. JAMA, 1995, 274(20): 1617-1621.
  5. Hsu T M, et al. Effects of sucrose and high fructose corn syrup consumption on spatial memory function and hippocampal neuroinflammation in adolescent rats[J]. Hippocampus, 2015, 25(2): 227-239.

黄疸能靠晒太阳退吗？

  1. American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation[J]. Pediatrics, 2004, 114(1): 297-316.
  2. Kemper A R, et al. Clinical practice guideline revision: management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation[J]. Pediatrics, 2022, 150(3): e2022058859.
  3. 中华医学会儿科学分会新生儿学组, 《中华儿科杂志》编辑委员会. 新生儿高胆红素血症诊断和治疗专家共识[J]. 中华儿科杂志, 2014, 52(10): 745-748.
  4. 中华医学会儿科学分会新生儿学组, 中华儿科杂志编辑委员会. 新生儿高胆红素血症诊治指南（2025）[EB/OL]. 2025.

叫名字不理人，要紧吗？

  1. 国家卫生和计划生育委员会办公厅. 儿童心理保健技术规范（卫办妇社发〔2013〕26号附件）[EB/OL]. 2013-04-15.
  2. 中华医学会儿科学分会发育行为学组, 等. 孤独症谱系障碍儿童早期识别筛查和早期干预专家共识[J]. 中华儿科杂志, 2017, 55(12): 890-897.
  3. Zubler J M, et al. Evidence-informed milestones for developmental surveillance tools[J]. Pediatrics, 2022, 149(3): e2021052138.
  4. 国家卫生和计划生育委员会办公厅. 儿童耳及听力保健技术规范（卫办妇社发〔2013〕26号附件）[EB/OL]. 2013-04-15.
  5. Nadig A S, et al. A prospective study of response to name in infants at risk for autism[J]. Arch Pediatr Adolesc Med, 2007, 161(4): 378-383.

NICU 出院后：早产儿家庭观察与随访

  1. 国家卫生计生委办公厅. 早产儿保健工作规范（国卫办妇幼发〔2017〕9号）[EB/OL]. 2017-02-22.
  2. National Institute for Health and Care Excellence. Developmental follow-up of children and young people born preterm: NG72[EB/OL]. 2017. (访问于 2026-09-25).
  3. Anderson N, Narvey M; Canadian Paediatric Society, Fetus and Newborn Committee. Discharge planning of the preterm infant[EB/OL]. 2022-03-04. (访问于 2026-09-25).
  4. American Academy of Pediatrics. How Should I Feed My Premature Baby?[EB/OL]. 2023-01-25. (访问于 2026-09-25).
  5. Eunice Kennedy Shriver National Institute of Child Health and Human Development. Ways to Reduce Baby's Risk[EB/OL]. Safe to Sleep. (访问于 2026-09-25).
  6. National Institute for Health and Care Excellence. Postnatal care: NG194, recommendations 1.4.7–1.4.10[EB/OL]. 2021. (访问于 2026-09-25).
  7. American Academy of Pediatrics. What Kinds of Follow-Up Care Will My Baby Need After NICU Discharge?[EB/OL]. 2023-01-26. (访问于 2026-09-25).

学得慢，是认知还是注意力？

  1. 中华医学会儿科学分会康复学组. 儿童康复相关发育性疾病的命名现状与建议[J]. 中国全科医学, 2022, 25(8): 899-904.
  2. 国家卫生和计划生育委员会. 0岁～6岁儿童发育行为评估量表: WS/T 580—2017[S]. 2017.
  3. 中华医学会儿科学分会发育行为学组. 注意缺陷多动障碍早期识别、规范诊断和治疗的儿科专家共识[J]. 中华儿科杂志, 2020, 58(3): 188-193.
  4. American Psychiatric Association. Diagnostic and statistical manual of mental disorders: DSM-5[M]. 5th ed. Arlington, VA: American Psychiatric Publishing, 2013.

后脑勺睡平了，会影响智力吗？

  1. Laughlin J, Luerssen T G, Dias M S, et al. Prevention and management of positional skull deformities in infants[J]. Pediatrics, 2011, 128(6): 1236-1241.
  2. Flannery A M, et al. Congress of Neurological Surgeons systematic review and evidence-based guidelines for the management of patients with positional plagiocephaly: executive summary[J]. Neurosurgery, 2016, 79(5): 623-624.
  3. Moon R Y, et al. Sleep-related infant deaths: updated 2022 recommendations for reducing infant deaths in the sleep environment[J]. Pediatrics, 2022, 150(1): e2022057990.

孩子发育迟缓有哪些表现？里程碑观察与就医评估

  1. Zubler JM, Wiggins LD, Macias MM, et al. Evidence-Informed Milestones for Developmental Surveillance Tools[J]. Pediatrics, 2022, 149(3): e2021052138. DOI: 10.1542/peds.2021-052138.
  2. Centers for Disease Control and Prevention. Milestones by 6 Months[EB/OL]. 2026. (访问于 2026-09-25).
  3. Centers for Disease Control and Prevention. Milestones by 9 Months[EB/OL]. 2026. (访问于 2026-09-25).
  4. Centers for Disease Control and Prevention. Milestones by 1 Year[EB/OL]. 2026. (访问于 2026-09-25).
  5. Centers for Disease Control and Prevention. Milestones by 18 Months[EB/OL]. 2026. (访问于 2026-09-25).
  6. Centers for Disease Control and Prevention. Milestones by 2 Years[EB/OL]. 2026. (访问于 2026-09-25).
  7. National Institute for Health and Care Excellence. Suspected neurological conditions: recognition and referral (NG127): Recommendations for children aged under 16[EB/OL]. (访问于 2026-09-25).
  8. McLeod S, Kawamura A, Orsino A, Canadian Paediatric Society. Assessing children and youth with global developmental delay and intellectual developmental disorder[EB/OL]. 2026. (访问于 2026-09-25).
  9. American Academy of Pediatrics. Corrected Age For Preemies[EB/OL]. 2018. (访问于 2026-09-25).
  10. Lipkin PH, Macias MM. Promoting optimal development: identifying infants and young children with developmental disorders through developmental surveillance and screening[J]. Pediatrics, 2020, 145(1): e20193449.
  11. 国家卫生健康委办公厅. 婴幼儿早期发展服务指南（试行）（国卫办妇幼函〔2024〕467号）[EB/OL]. 2024. (访问于 2026-09-25).

飞机手、打挺、头后仰、握拳、踮脚：宝宝这些姿势是肌张力高吗

  1. 李晓捷, 唐久来, 马丙祥, 等. 脑性瘫痪的定义、诊断标准及临床分型[J]. 中华实用儿科临床杂志, 2014, 29(19): 1520. DOI: 10.3760/cma.j.issn.2095-428X.2014.19.024.
  2. Cerebral palsy in under 25s: assessment and management (NG62)[EB/OL]. National Institute for Health and Care Excellence, 2017. (访问于 2026-09-25).
  3. 国家卫生计生委. 0 岁～6 岁儿童发育行为评估量表 WS/T 580—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).
  4. 国家卫生健康委办公厅. 0～6 岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).
  5. Centers for Disease Control and Prevention. CDC’s Developmental Milestones（Learn the Signs. Act Early.）[EB/OL]. U.S. Centers for Disease Control and Prevention, 2022. (访问于 2026-09-10).
  6. American Academy of Pediatrics Committee on Fetus and Newborn, American College of Obstetricians and Gynecologists Committee on Obstetric Practice. The Apgar score[J]. Pediatrics, 2015, 136(4): 819-822. DOI: 10.1542/peds.2015-2651.
  7. 北京市卫生和计划生育委员会. 北京市卫生和计划生育委员会关于落实《早产儿保健工作规范》的通知[S]. 北京市卫生健康委员会网站, 2018. (访问于 2026-10-08).

孩子坐不住，是多动症（ADHD）吗？

  1. Centers for Disease Control and Prevention. Clinical Care of ADHD in Children[EB/OL]. 2026-07-30. (访问于 2026-09-25).
  2. Wolraich ML, Hagan JF, Allan C, 等. Clinical practice guideline for the diagnosis, evaluation, and treatment of attention-deficit/hyperactivity disorder in children and adolescents[J]. Pediatrics, 2019, 144(4): e20192528.
  3. National Institute for Health and Care Excellence. Attention deficit hyperactivity disorder: diagnosis and management, NG87[EB/OL]. 2018. (访问于 2026-09-25).
  4. Centers for Disease Control and Prevention. Diagnosing ADHD[EB/OL]. (访问于 2026-09-25).
  5. National Institute of Mental Health. Attention-Deficit/Hyperactivity Disorder: What You Need to Know[EB/OL]. (访问于 2026-09-25).

氨基酸奶粉，能一直喝吗？

  1. Vandenplas Y, et al. An ESPGHAN Position Paper on the Diagnosis, Management, and Prevention of Cow's Milk Allergy[J]. J Pediatr Gastroenterol Nutr, 2024, 78(2): 386-413. DOI: 10.1097/MPG.0000000000003897.
  2. Meyer R, et al. World Allergy Organization (WAO) Diagnosis and Rationale for Action against Cow's Milk Allergy (DRACMA) Guideline update – VII – Milk elimination and reintroduction in the diagnostic process of cow's milk allergy[J]. World Allergy Organ J, 2023, 16(7): 100785. DOI: 10.1016/j.waojou.2023.100785.
  3. Venter C, et al. World Allergy Organization (WAO) Diagnosis and Rationale for Action against Cow's Milk Allergy (DRACMA) guidelines update – XVI – Nutritional management of cow's milk allergy[J]. World Allergy Organ J, 2024, 17(8): 100931. DOI: 10.1016/j.waojou.2024.100931.
  4. Canadian Paediatric Society. Cow's milk protein allergy in infants and children[EB/OL]. Canadian Paediatric Society, 2024. (访问于 2026-09-25).
  5. National Institute for Health and Care Excellence. Food allergy in under 19s: assessment and diagnosis (CG116), recommendations[EB/OL]. NICE. (访问于 2026-09-25).
  6. Australasian Society of Clinical Immunology and Allergy. Cow's Milk (Dairy) Allergy[EB/OL]. ASCIA, 2024. (访问于 2026-09-25).

架着腋下练走路，对孩子有帮助吗？

  1. WHO Multicentre Growth Reference Study Group. WHO Motor Development Study: windows of achievement for six gross motor development milestones[J]. Acta Paediatr Suppl, 2006, 450: 86-95.
  2. 国家卫生和计划生育委员会办公厅. 儿童心理保健技术规范（卫办妇社发〔2013〕26号附件）[EB/OL]. 2013-04-15.
  3. American Academy of Pediatrics Committee on Injury and Poison Prevention. Injuries associated with infant walkers[J]. Pediatrics, 2001, 108(3): 790-792.
  4. Engström P, Tedroff K. The prevalence and course of idiopathic toe-walking in 5-year-old children[J]. Pediatrics, 2012, 130(2): 279-284.
  5. 中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2015）：第一部分[J]. 中国康复医学杂志, 2015, 30(7): 747-754.

不会爬却想站，能跳过爬行吗？

  1. WHO Multicentre Growth Reference Study Group. WHO Motor Development Study: windows of achievement for six gross motor development milestones[J]. Acta Paediatr Suppl, 2006, 450: 86-95.
  2. 国家卫生和计划生育委员会办公厅. 儿童心理保健技术规范（卫办妇社发〔2013〕26号附件）[EB/OL]. 2013-04-15.
  3. 中国康复医学会儿童康复专业委员会, 等. 中国脑性瘫痪康复指南（2015）：第一部分[J]. 中国康复医学杂志, 2015, 30(7): 747-754.
  4. 国家卫生计生委办公厅. 早产儿保健工作规范（国卫办妇幼发〔2017〕9号）[EB/OL]. 2017-02-22.

早产儿出院后，为什么还要查眼底

  1. 中华医学会眼科学分会眼底病学组. 中国早产儿视网膜病变筛查指南（2014年）[J]. 中华眼科杂志, 2014, 50(12): 933-935.
  2. 国家卫生计生委办公厅. 早产儿保健工作规范（国卫办妇幼发〔2017〕9号）[EB/OL]. 2017-02-22.
  3. Fierson W M, et al. Screening examination of premature infants for retinopathy of prematurity[J]. Pediatrics, 2018, 142(6): e20183061.
  4. American Association for Pediatric Ophthalmology and Strabismus. Retinopathy of prematurity[EB/OL]. 2023.

黄鼻涕不等于细菌感染

  1. Wald E R, et al. Clinical practice guideline for the diagnosis and management of acute bacterial sinusitis in children aged 1 to 18 years[J]. Pediatrics, 2013, 132(1): e262-e280.
  2. Chow A W, et al. IDSA clinical practice guideline for acute bacterial rhinosinusitis in children and adults[J]. Clin Infect Dis, 2012, 54(8): e72-e112.
  3. 中国儿童普通感冒规范诊治专家共识（2013年）[J]. 中国实用儿科杂志, 2013, 28(9): 680-686.
  4. Pantell R H, et al. Evaluation and management of well-appearing febrile infants 8 to 60 days old[J]. Pediatrics, 2021, 148(2): e2021052228.
  5. 中国0至5岁儿童病因不明急性发热诊断和处理若干问题循证指南（标准版）[J]. 中国循证儿科杂志, 2016, 11(2): 81-96.

走路姿势不好看，就是肌张力问题吗？

  1. 李晓捷, 唐久来, 马丙祥, 等. 脑性瘫痪的定义、诊断标准及临床分型[J]. 中华实用儿科临床杂志, 2014, 29(19): 1520. DOI: 10.3760/cma.j.issn.2095-428X.2014.19.024.
  2. 中国康复医学会儿童康复专业委员会, 中国残疾人康复协会小儿脑性瘫痪康复专业委员会, 《中国脑性瘫痪康复指南》编委会. 中国脑性瘫痪康复指南（2015）：第一部分[J]. 中国康复医学杂志, 2015, 30(7): 747-754. DOI: 10.3969/j.issn.1001-1242.2015.07.028.
  3. 吴卫红, 鲍秀兰, 席冰玉, 等. 0～1 岁 52 项神经运动检查和简化 20 项相关性研究[J]. 中国儿童保健杂志, 2014, 22(3): 310-311.
  4. 鲍秀兰 主编. 0～1 岁神经运动 20 项检查（52 项简化法）[M]. 宝秀兰儿童早期发展优化中心, 2019.
  5. Amiel-Tison C. Clinical assessment of the infant nervous system. In: Levene MI, Chervenak FA, Whittle M, eds. Fetal and neonatal neurology and neurosurgery. 3rd ed[M]. Churchill Livingstone, 2001. ISBN 9780443064395.
  6. 国家卫生计生委办公厅. 儿童心理保健技术规范（含儿童心理行为发育问题预警征象筛查表）[S]. 国家卫生计生委, 2013. (访问于 2026-09-07).
  7. WHO Multicentre Growth Reference Study Group. WHO Motor Development Study: windows of achievement for six gross motor development milestones[J]. Acta Paediatrica Supplement, 2006, 450: 86-95. DOI: 10.1111/j.1651-2227.2006.tb02379.x.
  8. Novak I, Morgan C, Adde L, 等. Early, accurate diagnosis and early intervention in cerebral palsy: advances in diagnosis and treatment[J]. JAMA Pediatrics, 2017, 171(9): 897-907. DOI: 10.1001/jamapediatrics.2017.1689.
  9. Engström P, Tedroff K. The prevalence and course of idiopathic toe-walking in 5-year-old children[J]. Pediatrics, 2012, 130(2): 279-284. DOI: 10.1542/peds.2012-0225.

孤独症孩子为什么容易挑食

  1. Sharp W G, et al. Feeding problems and nutrient intake in children with autism spectrum disorders: a meta-analysis and comprehensive review of the literature[J]. J Autism Dev Disord, 2013, 43(9): 2159-2173. DOI: 10.1007/s10803-013-1771-5.
  2. Buie T, et al. Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report[J]. Pediatrics, 2010, 125(Suppl 1): S1-S18. DOI: 10.1542/peds.2009-1878C.
  3. Goday P S, et al. Pediatric Feeding Disorder: Consensus Definition and Conceptual Framework[J]. J Pediatr Gastroenterol Nutr, 2019, 68(1): 124-129. DOI: 10.1097/MPG.0000000000002188.
  4. American Speech-Language-Hearing Association. Pediatric feeding and swallowing[EB/OL]. ASHA Practice Portal. (访问于 2026-09-25).
  5. National Institute for Health and Care Excellence. Autism spectrum disorder in under 19s: support and management (CG170), recommendations[EB/OL]. NICE. (访问于 2026-09-25).
  6. American Speech-Language-Hearing Association. Feeding and Swallowing Milestones: Age Ranges[EB/OL]. ASHA. (访问于 2026-09-25).
  7. Hyman S L, et al. Identification, Evaluation, and Management of Children With Autism Spectrum Disorder[J]. Pediatrics, 2020, 145(1): e20193447. DOI: 10.1542/peds.2019-3447.

孤独症女孩为什么容易被漏诊

  1. Loomes R, Hull L, Mandy W P L. What is the male-to-female ratio in autism spectrum disorder? A systematic review and meta-analysis[J]. J Am Acad Child Adolesc Psychiatry, 2017, 56(6): 466-474.
  2. Hull L, Petrides K V, Mandy W. The female autism phenotype and camouflaging: a narrative review[J]. Review Journal of Autism and Developmental Disorders, 2020, 7(4): 306-317.
  3. Zhou H, et al. Prevalence of autism spectrum disorder in China: a nationwide multi-center population-based study among children aged 6 to 12 years[J]. Neurosci Bull, 2020, 36(9): 961-971.
  4. 中华医学会儿科学分会发育行为学组, 中国医师协会儿科分会儿童保健专业委员会, 等. 孤独症谱系障碍儿童早期识别筛查和早期干预专家共识[J]. 中华儿科杂志, 2017, 55(12): 890-897.

一岁半、两岁不会说话正常吗：语言发育迟缓的表现与评估

  1. 国家卫生健康委办公厅. 0～6 岁儿童孤独症筛查干预服务规范（试行）（国卫办妇幼发〔2022〕12 号）[S]. 中国政府网, 2022. (访问于 2026-09-07).
  2. 国家卫生计生委. 0 岁～6 岁儿童发育行为评估量表 WS/T 580—2017[S]. 中华人民共和国卫生行业标准, 2017. (访问于 2026-09-07).
  3. Centers for Disease Control and Prevention. CDC’s Developmental Milestones（Learn the Signs. Act Early.）[EB/OL]. U.S. Centers for Disease Control and Prevention, 2022. (访问于 2026-09-10).
  4. American Speech-Language-Hearing Association. Late Language Emergence[EB/OL]. ASHA Practice Portal. (访问于 2026-09-30).
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  6. 中华医学会物理医学与康复学分会言语语言康复学组, 中国康复医学会言语康复专业委员会, 中华医学会儿科学分会康复学组. 发展性语言障碍早期识别专家建议（2025）[J]. 中华儿科杂志, 2025, 63(6): 600-605. DOI: 10.3760/cma.j.cn112140-20250115-00038.
  7. 中华医学会儿科学分会神经学组, 中国医师协会神经内科分会儿童神经疾病专业委员会. 儿童智力障碍或全面发育迟缓病因诊断策略专家共识[J]. 中华儿科杂志, 2018, 56(11): 806-810. DOI: 10.3760/cma.j.issn.0578-1310.2018.11.003.
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早产儿转奶怎么转？什么时候换普通配方

  1. 《中华儿科杂志》编辑委员会, 中华医学会儿科学分会儿童保健学组, 中华医学会儿科学分会新生儿学组. 早产、低出生体重儿出院后喂养建议[J]. 中华儿科杂志, 2016, 54(1): 6-12.
  2. 中华人民共和国卫生部. 食品安全国家标准 特殊医学用途婴儿配方食品通则: GB 25596—2010[S]. 2010.
  3. 国家卫生计生委办公厅. 早产儿保健工作规范（国卫办妇幼发〔2017〕9号）[EB/OL]. 2017-02-22.
  4. Embleton N D, et al. Enteral nutrition in preterm infants (2022): a position paper from the ESPGHAN Committee on Nutrition and invited experts[J]. J Pediatr Gastroenterol Nutr, 2023, 76(2): 248-268.
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