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儿童智力障碍或全面发育迟缓病因诊断策略专家共识

2018-11-30 佚名 中华医学信息导报

智力障碍或全面发育迟缓是全球儿童主要致残原因之一,其病因复杂,涉及遗传和环境等多种因素,临床表现复杂多样,异质性强,国内对其病因诊断流程还存在较多问题,缺乏规范。为此, 中华医学会儿科学分会神经学组成立专家组,制定《儿童智力障碍或全面发育迟缓的病因诊断策略中国专家共识》,以期规范智力障碍或全面发育迟缓患儿的诊断流程,以利于早期明确病因、早期干预,避免重复过度检查,提供更准确的预后评估及遗传咨询。

智力障碍或全面发育迟缓是全球儿童主要致残原因之一,其病因复杂,涉及遗传和环境等多种因素,临床表现复杂多样,异质性强,国内对其病因诊断流程还存在较多问题,缺乏规范。为此, 中华医学会儿科学分会神经学组成立专家组,制定《儿童智力障碍或全面发育迟缓的病因诊断策略中国专家共识》,以期规范智力障碍或全面发育迟缓患儿的诊断流程,以利于早期明确病因、早期干预,避免重复过度检查,提供更准确的预后评估及遗传咨询。

1诊断

诊断需符合全部3 个标准:

(1)缺陷在发育阶段发生。

(2)总体智能缺陷:包括推理、解决问题、计划、抽象思维、判断、学业和经验学习等, 由临床评估及个体化、标准化的智力测试确认。智能缺陷通常对应智商低于平均值2个标准差, 国内目前已有用于智商评定及筛查的标准化测试量表。

(3)适应功能缺陷。

2病因

(1)非遗传性因素: 非遗传性因素对轻度智力障碍或全面发育迟缓影响很大。产前常见的因素包括先天性感染、接触致畸物或环境毒物。

(2)遗传性因素:遗传性因素估计占不明原因智力障碍的50%,在中重度智力障碍患者中尤为突出,比例达2/3甚至更高。遗传性因素包括染色体数目和结构异常、单基因病、线粒体病、多基因和/或表观遗传异常等。

3诊断流程

(1)确认诊断;

(2)排查各种非遗传性病因;

(3)确定是否有提示脑结构异常或者髓鞘发育异常的情况;

(4) 排查各种遗传性及代谢性病因;

(5)重新分析数据、再评估及随访;

(6)评估共患病。

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  5. 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channel=null, level=null, likeNumber=83, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Sat Dec 01 10:17:21 CST 2018, time=2018-12-01, status=1, ipAttribution=)]
    2018-12-02 neurowu
  6. 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channel=null, level=null, likeNumber=83, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Sat Dec 01 10:17:21 CST 2018, time=2018-12-01, status=1, ipAttribution=)]
    2018-12-01 Y—xianghai

    学习了长知识

    0

  7. 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channel=null, level=null, likeNumber=83, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Sat Dec 01 10:17:21 CST 2018, time=2018-12-01, status=1, ipAttribution=)]
    2018-12-01 Y—xianghai

    学习了新知识

    0

  8. 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topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Sat Dec 01 10:17:38 CST 2018, time=2018-12-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=354173, encodeId=3d183541e390, content=学习了新知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=69, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Sat Dec 01 10:17:34 CST 2018, time=2018-12-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=354172, encodeId=48ab3541e21a, content=学习了长知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Sat Dec 01 10:17:30 CST 2018, time=2018-12-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=354171, encodeId=91813541e1f1, content=学习了新知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=89, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Sat Dec 01 10:17:26 CST 2018, time=2018-12-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=354170, encodeId=136d3541e014, content=学习了长知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=83, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Sat Dec 01 10:17:21 CST 2018, time=2018-12-01, status=1, ipAttribution=)]
    2018-12-01 Y—xianghai

    学习了长知识

    0

  9. [GetPortalCommentsPageByObjectIdResponse(id=1981141, encodeId=9ccf1981141e6, content=<a href='/topic/show?id=265e3e961ee' target=_blank style='color:#2F92EE;'>#发育迟缓#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=40, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37961, encryptionId=265e3e961ee, topicName=发育迟缓)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=5fc9246, createdName=zhangfenasdf, createdTime=Fri May 17 06:26:00 CST 2019, time=2019-05-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1845293, encodeId=d904184529395, content=<a href='/topic/show?id=5d2f206482e' target=_blank style='color:#2F92EE;'>#专家共识#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=20648, encryptionId=5d2f206482e, topicName=专家共识)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=568152, 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topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Sat Dec 01 10:17:38 CST 2018, time=2018-12-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=354173, encodeId=3d183541e390, content=学习了新知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=69, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Sat Dec 01 10:17:34 CST 2018, time=2018-12-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=354172, encodeId=48ab3541e21a, content=学习了长知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, 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channel=null, level=null, likeNumber=83, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Sat Dec 01 10:17:21 CST 2018, time=2018-12-01, status=1, ipAttribution=)]
    2018-12-01 Y—xianghai

    学习了新知识

    0

  10. 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channel=null, level=null, likeNumber=83, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20201006/4db877c2887649beb09cb5effd0b38c7/916f66edd48a4e77b20ebc3e14b6e45c.jpg, createdBy=141e1980133, createdName=Y—xianghai, createdTime=Sat Dec 01 10:17:21 CST 2018, time=2018-12-01, status=1, ipAttribution=)]
    2018-12-01 Y—xianghai

    学习了长知识

    0

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北京儿童医院血液肿瘤中心、北京博仁医院血液三科主任医师张永红教授告诉搜狐健康,淋巴瘤虽然是危险的恶性肿瘤,但也是治愈性极高的一种肿瘤,特别是对儿童来说。近年来,随着采用国际规范的治疗方案,大多数儿童淋巴瘤治愈率在80%以上,其中霍奇金淋巴瘤的5年无病生存率更是高达90%以上。

Neurology:多发性硬化症儿童使用新型疾病修饰疗法 安全吗?

多发性硬化症(MS)是一种慢性中枢神经系统疾病。MS在全球影响约230万人,其中估计3~5%为儿童,目前尚无治愈该病的药物。2018年11月,发表在《Neurology》的一项队列研究调查了18岁以下接受治疗的MS儿童使用新型疾病修饰疗法(DMTs)的安全性。

儿童阻塞性睡眠呼吸暂停低通气综合征与变应性鼻炎

阻塞性睡眠呼吸暂停低通气综合征(OSAHS)是一种儿童常见疾病,且与变应性鼻炎(AR) 关系密切。

Diabetes Care:美国糖尿病协会声明,超重或肥胖儿童青少年若应筛查糖尿病

近日,美国糖尿病协会(ADA)就青年2型糖尿病的管理发表了一项声明。该声明由六位儿科内分泌学和心理学家,回顾分析了260多篇文献、共识等后进行了撰写。

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