家长警惕:儿童鼾症危害大!可能造成儿童生长发育迟缓 、腺样体面容、认知障碍......

2021-06-16 “交大二附院”公众号 “交大二附院”公众号

儿童鼾症,也就是我们平时所说的“打呼噜”,医学上称作儿童阻塞性睡眠呼吸暂停(OSA),表现为多种原因导致的睡眠时上气道反复塌陷或阻塞,出现响亮的鼾声和呼吸暂停,可继发生长障碍、潜在的或明显的神经认知功

关于儿童鼾症(OSA)治疗的问题

亲爱的各位家长:

儿童鼾症,也就是我们平时所说的“打呼噜”,医学上称作儿童阻塞性睡眠呼吸暂停(OSA),表现为多种原因导致的睡眠时上气道反复塌陷或阻塞,出现响亮的鼾声和呼吸暂停,可继发生长障碍、潜在的或明显的神经认知功能及心血管系统等并发症。OSA是儿童的常见病之一,发病率呈逐年上升的趋势,儿童肥大的扁桃体和增生的腺样体是OSA主要的病因。教育部办公厅2021年3月31日颁发了《关于进一步加强中小学生睡眠管理工作的通知》,在强调保证睡眠时间的同时,也指出要提高学生睡眠质量。充足的睡眠,特别是深度睡眠,对儿童和青少年的身心发育、智力提升、情绪行为以及记忆力的巩固都有非常重要的意义。

OSA作为最常见的儿童睡眠问题,对儿童有什么危害?有哪些治疗方法?就这些家长们关心的问题,今天小编就请西安交通大学第二附属医院耳鼻咽喉头颈外科病院的任晓勇教授做一解答,希望能帮助到被“小呼噜”困扰的家长们。

一、引起儿童OSA的主要原因

最常见的有两大原因:腺样体增生、扁桃体肥大。除了这两大原因之外,还有一些其他原因:过敏性鼻炎、肥胖、小颌畸形、舌体肥厚、其他。

在儿童OSA的诊断中,哪些临床症状和体征需要重点关注?

1、症状方面,关注有无打鼾以及打鼾的频率,其中打鼾≥3晚/周需要重点关注;

2、关注睡眠憋气、呼吸暂停、张口呼吸、呼吸费力、睡眠不安、遗尿、白天嗜睡、注意力缺陷或多动、学习成绩下降等表现。幼儿应关注张口呼吸、反复觉醒、情绪行为异常等。

3、在体征方面,关注腺样体肥大、扁桃体肥大、腺样体面容以及肥胖。

二、多导睡眠监测(PSG)

多导睡眠监测(PSG)是诊断OSA的金标准,是一项无创无痛性检查,在小儿体表不同部位用胶布粘贴相应电极,监测睡眠状态并进行数据采集,包括脑电、鼾声、血氧饱和度、口鼻气流、体位等相关参数,以此来判断睡眠情况、呼吸暂停及严重程度、缺氧情况等。

2020年新版指南推荐OAHI>1次/h作为儿童OSA的诊断界值,利于早期发现需要干预治疗的睡眠呼吸障碍患儿;另外AHI、OAI和最低血氧饱和度对儿童OSA的诊断也有重要参考意义。

三、儿童鼾症的危害

1、生长发育迟缓

呼吸不畅,夜间缺氧,导致内分泌紊乱,促生长激素分泌减少,影响长个子,时间长了就会比同龄孩子身形矮小体重偏轻或者过度肥胖。

2、认知障碍

严重的“打呼噜”会造成呼吸的暂时停止或者是通气不足,从而引起血液中氧含量的降低,可引起注意力不集中,反应迟钝,记忆力下降,学习困难,多动等认知障碍。有研究表明患有OSA的孩子较普通孩子学习成绩差。

3、颌面部发育异常

“打呼噜”时孩子长期的张口呼吸会造成下颌发育不良,出现下颌窄小、后缩,上唇短厚翘起、牙齿排列不整齐、上切牙突出、咬合不良等表现,医学上称为“腺样体面容”。长期,会影响孩子一生的面容。

4、中耳炎

小儿的咽鼓管具有“短、直、宽”的生理特点,肥大的腺样体如果堵塞了咽鼓管咽口会引起反复的渗出性中耳炎。这种情况长期存在,会明显影响孩子的听力,引起传导性耳聋。

5、其他系统功能障碍

如心血管系统、呼吸系统、内分泌系统等。

四、腺样体和扁桃体切除术

早发现、早诊断、早治疗!

确诊为OSA且临床检查符合腺样体和(或)扁桃体肥大的患儿,排除手术禁忌后,推荐腺样体和(或)扁桃体切除术作为中、重度OSA患儿的首选治疗。目前手术方式具有微创、出血少、损伤小、疼痛轻、恢复快等优点。

确诊为OSA患儿不符合腺样体和(或)扁桃体肥大时,需综合评估口腔、鼻腔等上气道情况,建议进一步行其他方法治疗。

全麻对儿童有影响吗?

麻醉技术发展至今已经非常成熟,对儿童身心发育并无不良影响。

全麻下手术可以消除患儿的恐惧心理,利于手术安全顺利进行,对于咽喉部位手术尤为重要。

术后免疫力会降低吗?

扁桃体腺样体在身体免疫系统中占得比重很小,由于病变原因切除并不会造成免疫功能降低。但是对3岁以下幼儿,除非非常必要,一般不选择手术切除。

需要指出的是,扁桃体虽然是人体的免疫器官,但不是最重要、也不是唯一的免疫器官,对于一些顽固的、严重的、引起并发症的扁桃体炎手术切除是利大于弊的。

孩子出现哪些症状要及时就诊?

★ 睡眠时打鼾或者出现憋气憋醒

★ 睡眠时张口呼吸、呼吸费力

★ 睡姿异常、睡眠不安

★ 白天嗜睡、注意力不集中

★ 学习困难、多动

★ 腺样体面容,出现上唇短厚翘起、牙齿排列★ 不整齐、咬合不良等

★ 夜间多汗、遗尿、磨牙等

★ 反复呼吸道感染

版权声明:
本网站所有内容来源注明为“梅斯医学”或“MedSci原创”的文字、图片和音视频资料,版权均属于梅斯医学所有。非经授权,任何媒体、网站或个人不得转载,授权转载时须注明来源为“梅斯医学”。其它来源的文章系转载文章,或“梅斯号”自媒体发布的文章,仅系出于传递更多信息之目的,本站仅负责审核内容合规,其内容不代表本站立场,本站不负责内容的准确性和版权。如果存在侵权、或不希望被转载的媒体或个人可与我们联系,我们将立即进行删除处理。
在此留言
评论区 (5)
#插入话题
  1. [GetPortalCommentsPageByObjectIdResponse(id=1981146, encodeId=21301981146e8, 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=36, 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=Sat May 07 06:34:09 CST 2022, time=2022-05-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1945792, encodeId=3e351945e9215, content=<a href='/topic/show?id=49ce6961069' target=_blank style='color:#2F92EE;'>#生长发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=69610, encryptionId=49ce6961069, topicName=生长发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a35a460, createdName=fengyi812, createdTime=Fri May 20 17:34:09 CST 2022, time=2022-05-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1347555, encodeId=66f8134e555aa, content=<a href='/topic/show?id=88713e938c1' target=_blank style='color:#2F92EE;'>#发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37938, encryptionId=88713e938c1, topicName=发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f4c124, createdName=neurowu, createdTime=Fri Jun 18 02:34:09 CST 2021, time=2021-06-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=974209, encodeId=6eef9e42093d, content=学习了学习了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210616/24667e82dc474d438cfa366d65717d99/09c14ce461ef4dbdafbcf576c83c288f.jpg, createdBy=d3135527069, createdName=潇洒熊, createdTime=Wed Jun 16 21:53:28 CST 2021, time=2021-06-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=974082, encodeId=aa3d9e408233, content=非常好, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210616/6ff069da45d748d78c33adba241d015f/697b0f8c6a5c4beea769c21778ab7e05.jpg, createdBy=c40a5526200, createdName=ms1000000595339481, createdTime=Wed Jun 16 13:44:06 CST 2021, time=2021-06-16, status=1, ipAttribution=)]
  2. [GetPortalCommentsPageByObjectIdResponse(id=1981146, encodeId=21301981146e8, 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=36, 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=Sat May 07 06:34:09 CST 2022, time=2022-05-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1945792, encodeId=3e351945e9215, content=<a href='/topic/show?id=49ce6961069' target=_blank style='color:#2F92EE;'>#生长发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=69610, encryptionId=49ce6961069, topicName=生长发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a35a460, createdName=fengyi812, createdTime=Fri May 20 17:34:09 CST 2022, time=2022-05-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1347555, encodeId=66f8134e555aa, content=<a href='/topic/show?id=88713e938c1' target=_blank style='color:#2F92EE;'>#发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37938, encryptionId=88713e938c1, topicName=发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f4c124, createdName=neurowu, createdTime=Fri Jun 18 02:34:09 CST 2021, time=2021-06-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=974209, encodeId=6eef9e42093d, content=学习了学习了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210616/24667e82dc474d438cfa366d65717d99/09c14ce461ef4dbdafbcf576c83c288f.jpg, createdBy=d3135527069, createdName=潇洒熊, createdTime=Wed Jun 16 21:53:28 CST 2021, time=2021-06-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=974082, encodeId=aa3d9e408233, content=非常好, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210616/6ff069da45d748d78c33adba241d015f/697b0f8c6a5c4beea769c21778ab7e05.jpg, createdBy=c40a5526200, createdName=ms1000000595339481, createdTime=Wed Jun 16 13:44:06 CST 2021, time=2021-06-16, status=1, ipAttribution=)]
  3. [GetPortalCommentsPageByObjectIdResponse(id=1981146, encodeId=21301981146e8, 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=36, 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=Sat May 07 06:34:09 CST 2022, time=2022-05-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1945792, encodeId=3e351945e9215, content=<a href='/topic/show?id=49ce6961069' target=_blank style='color:#2F92EE;'>#生长发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=69610, encryptionId=49ce6961069, topicName=生长发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a35a460, createdName=fengyi812, createdTime=Fri May 20 17:34:09 CST 2022, time=2022-05-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1347555, encodeId=66f8134e555aa, content=<a href='/topic/show?id=88713e938c1' target=_blank style='color:#2F92EE;'>#发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37938, encryptionId=88713e938c1, topicName=发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f4c124, createdName=neurowu, createdTime=Fri Jun 18 02:34:09 CST 2021, time=2021-06-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=974209, encodeId=6eef9e42093d, content=学习了学习了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210616/24667e82dc474d438cfa366d65717d99/09c14ce461ef4dbdafbcf576c83c288f.jpg, createdBy=d3135527069, createdName=潇洒熊, createdTime=Wed Jun 16 21:53:28 CST 2021, time=2021-06-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=974082, encodeId=aa3d9e408233, content=非常好, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210616/6ff069da45d748d78c33adba241d015f/697b0f8c6a5c4beea769c21778ab7e05.jpg, createdBy=c40a5526200, createdName=ms1000000595339481, createdTime=Wed Jun 16 13:44:06 CST 2021, time=2021-06-16, status=1, ipAttribution=)]
    2021-06-18 neurowu
  4. [GetPortalCommentsPageByObjectIdResponse(id=1981146, encodeId=21301981146e8, 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=36, 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=Sat May 07 06:34:09 CST 2022, time=2022-05-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1945792, encodeId=3e351945e9215, content=<a href='/topic/show?id=49ce6961069' target=_blank style='color:#2F92EE;'>#生长发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=69610, encryptionId=49ce6961069, topicName=生长发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a35a460, createdName=fengyi812, createdTime=Fri May 20 17:34:09 CST 2022, time=2022-05-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1347555, encodeId=66f8134e555aa, content=<a href='/topic/show?id=88713e938c1' target=_blank style='color:#2F92EE;'>#发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37938, encryptionId=88713e938c1, topicName=发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f4c124, createdName=neurowu, createdTime=Fri Jun 18 02:34:09 CST 2021, time=2021-06-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=974209, encodeId=6eef9e42093d, content=学习了学习了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210616/24667e82dc474d438cfa366d65717d99/09c14ce461ef4dbdafbcf576c83c288f.jpg, createdBy=d3135527069, createdName=潇洒熊, createdTime=Wed Jun 16 21:53:28 CST 2021, time=2021-06-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=974082, encodeId=aa3d9e408233, content=非常好, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210616/6ff069da45d748d78c33adba241d015f/697b0f8c6a5c4beea769c21778ab7e05.jpg, createdBy=c40a5526200, createdName=ms1000000595339481, createdTime=Wed Jun 16 13:44:06 CST 2021, time=2021-06-16, status=1, ipAttribution=)]
    2021-06-16 潇洒熊

    学习了学习了!

    0

  5. [GetPortalCommentsPageByObjectIdResponse(id=1981146, encodeId=21301981146e8, 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=36, 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=Sat May 07 06:34:09 CST 2022, time=2022-05-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1945792, encodeId=3e351945e9215, content=<a href='/topic/show?id=49ce6961069' target=_blank style='color:#2F92EE;'>#生长发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=69610, encryptionId=49ce6961069, topicName=生长发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a35a460, createdName=fengyi812, createdTime=Fri May 20 17:34:09 CST 2022, time=2022-05-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1347555, encodeId=66f8134e555aa, content=<a href='/topic/show?id=88713e938c1' target=_blank style='color:#2F92EE;'>#发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37938, encryptionId=88713e938c1, topicName=发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f4c124, createdName=neurowu, createdTime=Fri Jun 18 02:34:09 CST 2021, time=2021-06-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=974209, encodeId=6eef9e42093d, content=学习了学习了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210616/24667e82dc474d438cfa366d65717d99/09c14ce461ef4dbdafbcf576c83c288f.jpg, createdBy=d3135527069, createdName=潇洒熊, createdTime=Wed Jun 16 21:53:28 CST 2021, time=2021-06-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=974082, encodeId=aa3d9e408233, content=非常好, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210616/6ff069da45d748d78c33adba241d015f/697b0f8c6a5c4beea769c21778ab7e05.jpg, createdBy=c40a5526200, createdName=ms1000000595339481, createdTime=Wed Jun 16 13:44:06 CST 2021, time=2021-06-16, status=1, ipAttribution=)]
    2021-06-16 ms1000000595339481

    非常好

    0

相关资讯

Cells:Mesenchymal MACF1促进SMAD7核转位驱动骨的形成

微管肌动蛋白交联因子1(MACF1)是一种大型交联剂,有助于细胞的完整性和细胞分化。最新研究表明,MACF1参与神经元发育和表皮迁移等多种细胞功能,是许多退行性疾病的分子基础。MACF1在骨骼中,尤其

Neuron:视网膜发育中基因组三维结构变化

尽管DNA双螺旋结构被大家熟知,但是人类基因组的物理结构远比双螺旋复杂:总长近2米的DNA长链,在组蛋白,以及cohesin和CTCF等蛋白的帮助下被一步步压缩,包装成染色体结构,进而能被细胞核容纳。在这个过程中,DNA一维结构中相距较远的区域可能通过染色质环状结构(chromatin looping)在三维结构中反而比较接近,从而达到增强子远程调控的作用。但是这个包装过程的关键细节在很大程度上还

eLife:研究确定了健康子宫发育所需的细胞

了解子宫发育的生物学过程对了解子宫健康和生育能力非常重要。由马萨诸塞州总医院(MGH)的研究人员领导的一个研究小组发现了一种细胞类型的新功能,这种细胞对子宫功能的形成至关重要。

JCLA:一名4岁患有先天性心脏病和发育不良的男孩的嵌合三体—病例报告

22三体嵌合是一种罕见的可存活的常染色体异常病变。在遗传咨询过程中,从嵌合体中识别出与生命不相容的完整的22三体至关重要。受影响的镶嵌病例临床表现包括,蹼状颈,发育迟缓,异常的耳朵,心脏疾病和小头畸形。这些患者的表型比全染色体非整倍体较为温和,其严重程度取决于三体细胞的数量。在此,研究人员我们描述了一名来自健康的父母且没有任何遗传疾病的家族史的4岁男孩病例报道。 患者出现面部不对称、腭裂、胃

快速判断胎儿小脑蚓部发育的方法

话说要鉴别胎儿后颅窝各种病变,若不了解小脑蚓部发育的情况,还真难判断。

JNNP:一项发育障碍——C9orf72突变基因携带者的口语流利性不足

C9orf72中基因的突变使得肌萎缩性侧索硬化症(ALS)和额颞痴呆(FTD)之间发生了交联。在临床表现上,两种疾病都有可能表现出行为,语言障碍(FTD中)或运动功能障碍(在ALS中)。