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Article(id=1322218803384139873, tenantId=1146029695717560320, journalId=1319373162502258839, issueId=1322218730805904072, articleNumber=null, orderNo=null, doi=10.16016/j.2097-0927.202503028, pmid=null, cstr=null, oa=null, hot=null, price=null, onlineType=0, articleFormat=0, articleType=null, articleTypeStr=null, receivedDate=1741276800000, receivedDateStr=2025-03-07, revisedDate=1746720000000, revisedDateStr=2025-05-09, acceptedDate=null, acceptedDateStr=null, onlineDate=1793171128364, onlineDateStr=2026-10-28, pubDate=1751212800000, pubDateStr=2025-06-30, doiRegisterDate=null, doiRegisterDateStr=null, onlineIssueDate=1793171128364, onlineIssueDateStr=2026-10-28, onlineJustAcceptDate=null, onlineJustAcceptDateStr=null, onlineFirstDate=null, onlineFirstDateStr=null, sourceXml=null, magXml=null, createTime=1793171128364, creator=13701087609, updateTime=1793171128364, updator=13701087609, issue=Issue{id=1322218730805904072, tenantId=1146029695717560320, journalId=1319373162502258839, year='2025', volume='47', issue='12', pageStart='1261', pageEnd='1400', issueExtLink='null', onlineDate='null', pubDate='1751212800000', pubDateStr='2025-06-30', beforeIssueId=null, nextIssueId=null, price=null, status=1, issueComplete=1, articleOrder=1, issueType=-1, specialIssue=null, createTime=1793171111059, creator='13701087609', updateTime=1793325445066, updator='13701087609', preIssue=null, nextIssue=null, articleTotal=null, ext={EN=IssueExt(id=1322866054611714261, tenantId=1146029695717560320, journalId=1319373162502258839, issueId=1322218730805904072, language=EN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=), CN=IssueExt(id=1322866054611714262, tenantId=1146029695717560320, journalId=1319373162502258839, issueId=1322218730805904072, language=CN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=)}, issueFiles=null, downloadFileDto=null}, startPage=1350, endPage=1357, ext={EN=ArticleExt(id=1322218803631603810, articleId=1322218803384139873, tenantId=1146029695717560320, journalId=1319373162502258839, language=EN, title=Impact of spinal cord anomalies on defecation and quality of life in children with anorectal malformations, columnId=1320435174995772212, journalTitle=Journal of Army Medical University, columnName=Clinical Medicine, runingTitle=null, highlight=null, articleAbstract=
Objective‍

To explore the relationship between postoperative defecation dysfunction and quality of life in children with anorectal malformation (ARM) complicated with spinal cord anomalies (SCA) and analyze the impact of different types of SCA on ARM patients in order to provide a reference for the early clinical identification of high-risk children with poor prognosis.

Methods‍

A retrospective analysis was conducted on 282 ARM neonates admitted to our department between June 2015 and April 2021. Radiological examinations were applied to evaluate the development of the spinal cord, and Rintala score and the PedsQL 4.0 scale were employed to assess postoperative defecation function and quality of life, respectively. According to their SCA types and other complications, the patients were grouped. The relationship between these factors and defecation function as well as quality of life was then analyzed.

Results‍

Among the 282 subjected children, 104 (36.9%) had SCA. The incidence of SCA varied significantly across different types of ARM (P=0.002), with the highest incidence observed in vaginal fistula patients (100.0%) and the lowest in children without fistula (13.6%). Radiological findings revealed that sacral bone anomalies were common, with absent coccyx (62.7%) and vertebral anomalies (69.8%) being the most prevalent. The SCA group had significantly lower Rintala bowel function score (12.70±3.24) and PedsQL 4.0 quality of life score (81.42±5.03) than the non-SCA group (P<0.001). As the increment of SCA types, both the Rintala score and PedsQL 4.0 score were in a significant downward trend (P<0.001). Among the children with different types of SCA, those with tethered cord syndrome had the statistically lowest Rintala score (8.05±2.35, P<0.05). Meanwhile, their PedsQL 4.0 score (75.90±3.35) was significantly lower than those of other types except syrinx (P<0.05). Multiple linear regression analysis indicated that both SCA and sacral bone anomalies exerted notably negative impacts on the Rintala score and PedsQL 4.0 score (P≤0.001), with SCA having the most pronounced effect.

Conclusion‍

SCA is closely associated with postoperative defecation dysfunction and diminished quality of life in ARM children. The greater the type and number of SCAs, the worse the postoperative defecation function and quality of life. Early identification of concomitant SCAs holds significant clinical value for predicting postoperative outcomes in ARM patients.

, authors=Linxiao FAN, Wei FENG, Chenzhu XIANG, Yuanyuan LIU, Jinping HOU, Yi WANG, authorsList=Linxiao FAN, Wei FENG, Chenzhu XIANG, Yuanyuan LIU, Jinping HOU, Yi WANG, authorCompany=null, correspAuthors=Yi WANG, authorNote=null, correspAuthorsNote=null, copyrightStatement=© 2025 Journal of Army Medical University, copyrightOwner=Editorial Office of Journal of Army Medical University, extLink=null, articleAbsUrl=null, sourceXml=null, magXml=null, pdfUrl=null, pdf=null, pdfFileSize=null, pdfExtLink=null, richHtmlUrl=null, mobilePdfUrl=null, reviewReport=null, pdfFirstPage=null, abstractGraph=null, abstractGraphContent=null, abstractVideo=null, citation=null, cebUrl=null, magXmlContent=null, mapNumber=null, fund=null), CN=ArticleExt(id=1322218805913305190, articleId=1322218803384139873, tenantId=1146029695717560320, journalId=1319373162502258839, language=CN, title=脊髓发育异常对先天性肛门直肠畸形患儿排便功能及生活质量的影响, columnId=1322185541475488183, journalTitle=陆军军医大学学报, columnName=临床医学, runingTitle=null, highlight=null, articleAbstract=
目的

探讨先天性肛门直肠畸形（anorectal malformation，ARM）合并脊髓发育异常（spinal cord anomalies，SCA）患儿术后排便功能障碍和生活质量之间的关系，分析不同类型SCA对ARM患儿的影响，为临床早期识别可能的预后不良患儿提供参考。

方法

本研究回顾性分析了2015年6月至2021年4月期间重庆医科大学附属儿童医院普外新生儿外科收治的282例ARM患儿。通过影像学检查评估患儿的脊髓发育情况，并使用Rintala评分和PedsQL 4.0量表评价术后排便功能和生活质量。根据SCA的类型及其合并情况进行分组，分析其与排便功能及生活质量之间的关系。

结果

本组282例ARM患儿，其中104例（36.9%）存在SCA。不同ARM类型中，SCA发生率存在显著差异（P=0.002），阴道瘘患儿的SCA发生率最高（100.0%），而无瘘患儿最低（13.6%）。影像学显示，骶尾部骨异常较为常见，尾骨未见显示（62.7%）和椎体异常（69.8%）为主要表现。SCA组的Rintala排便功能评分（12.70±3.24）和PedsQL 4.0生活质量评分（81.42±5.03）均显著低于无SCA组（P<0.001）。随着合并SCA数量的增加，Rintala评分和PedsQL 4.0评分均呈现显著下降趋势（P<0.001）。不同SCA类型中，脊髓栓系患儿的Rintala评分（8.05±2.35）最低，显著低于其他类型（P<0.05）；同时其PedsQL 4.0评分（75.90±3.35）显著低于除脊髓空洞外的其他类型（P<0.05）。多元线性回归分析显示，SCA和骶尾部骨异常对Rintala评分和PedsQL 4.0评分均有显著负面影响（P≤0.001），其中SCA的影响最为显著。

结论

SCA与ARM患儿术后排便功能障碍及生活质量下降密切相关。SCA的类型和数量越多，患儿术后的排便功能和生活质量越差。早期识别合并的SCA，对于评估ARM患儿术后预后有积极意义。

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王佚，E-mail：
WANG Yi，E-mail：
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J Neurosurg，2003，98（3Suppl）：251-257., articleTitle=Evaluation of anorectal function in patients with tethered cord syndrome：saline Enema test and fecoflowmetry, refAbstract=null)], funds=null, companyList=[AuthorCompany(id=1322218806232072295, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, xref=1, ext=[AuthorCompanyExt(id=1322218806240460904, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, companyId=1322218806232072295, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1Department of General & Neonatal Surgery，National Clinical Research Center for Child Health and Disorders，Key Laboratory of Child Development and Disorders of Ministry of Education，Chongqing Key Laboratory of Pediatrics，Children’s Hospital of Chongqing Medical University，Chongqing，China), AuthorCompanyExt(id=1322218806248849513, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, companyId=1322218806232072295, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1重庆医科大学附属儿童医院普外新生儿外科，国家儿童健康与疾病临床医学研究中心，儿童发育疾病研究教育部重点实验室，儿科学重庆市重点实验室，重庆)])], figs=[ArticleFig(id=1322218811953102992, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, language=EN, label=null, caption=null, figureFileSmall=fulXge5j1PIQY52ZtZmRZQ==, figureFileBig=fISiayr2T2uhsdAdIoA6ug==, tableContent=null), ArticleFig(id=1322218812074737809, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, language=CN, label=图1, caption=Rintala、PedsQL 4.0评分简表, figureFileSmall=fulXge5j1PIQY52ZtZmRZQ==, figureFileBig=fISiayr2T2uhsdAdIoA6ug==, tableContent=null), ArticleFig(id=1322218812301230226, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, language=EN, label=null, caption=null, figureFileSmall=null, figureFileBig=null, tableContent=
变量总数SCA情况SCA率/%Fisher/χ²/tP
有SCA无SCA
基本资料28210417836.9--
ARM类型18.4490.002
尿道瘘121487339.7
前庭瘘105426340.0
会阴瘘2031715.0
膀胱颈部瘘93633.3
阴道瘘550100.0
无瘘2231913.6
年龄/月-4.0 （4.0，6.0）5.0 （4.0，6.0）--0.4910.624
性别3.5490.170
女性119497041.2
男性1635510833.7
骶尾部骨异常类型3.5490.476
尾骨未见显示59372262.7
生理曲度失常43222151.2
骶骨异常39251464.1
椎体异常43301369.8
骶骨合并锥体异常2416866.7
SCA类型--
脊髓闭合障碍-84-80.8a
脊髓空洞-32-30.8a
蛛网膜囊肿-1-1.0a
圆锥异常-26-25.0a
脊髓栓系-20-19.2a
Rintala评分-12.70±3.2416.49±1.79-10.996<0.001
PedsQL 4.0评分-81.42±5.0386.42±3.93-8.700<0.001
), ArticleFig(id=1322218812401893523, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, language=CN, label=表1, caption=

不同ARM类型患者的SCA发生情况及相关因素分析 ［M（P25，P75），x¯±s］

, figureFileSmall=null, figureFileBig=null, tableContent=
变量总数SCA情况SCA率/%Fisher/χ²/tP
有SCA无SCA
基本资料28210417836.9--
ARM类型18.4490.002
尿道瘘121487339.7
前庭瘘105426340.0
会阴瘘2031715.0
膀胱颈部瘘93633.3
阴道瘘550100.0
无瘘2231913.6
年龄/月-4.0 （4.0，6.0）5.0 （4.0，6.0）--0.4910.624
性别3.5490.170
女性119497041.2
男性1635510833.7
骶尾部骨异常类型3.5490.476
尾骨未见显示59372262.7
生理曲度失常43222151.2
骶骨异常39251464.1
椎体异常43301369.8
骶骨合并锥体异常2416866.7
SCA类型--
脊髓闭合障碍-84-80.8a
脊髓空洞-32-30.8a
蛛网膜囊肿-1-1.0a
圆锥异常-26-25.0a
脊髓栓系-20-19.2a
Rintala评分-12.70±3.2416.49±1.79-10.996<0.001
PedsQL 4.0评分-81.42±5.0386.42±3.93-8.700<0.001
), ArticleFig(id=1322218812502556820, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, language=EN, label=null, caption=null, figureFileSmall=null, figureFileBig=null, tableContent=
评分系统SCA情况FP
无SCA
（n=178）		单发SCA
（n=65）		多发SCA
（n=39）
Rintala16.49±1.7914.32±2.0910.00±3.00163.935<0.001
PedsQL 4.086.42±3.9383.97±4.0577.18±3.3891.423<0.001
), ArticleFig(id=1322218812628385941, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, language=CN, label=表2, caption=

不同SCA合并情况的Rintala和PedsQL 4.0评分情况统计

, figureFileSmall=null, figureFileBig=null, tableContent=
评分系统SCA情况FP
无SCA
（n=178）		单发SCA
（n=65）		多发SCA
（n=39）
Rintala16.49±1.7914.32±2.0910.00±3.00163.935<0.001
PedsQL 4.086.42±3.9383.97±4.0577.18±3.3891.423<0.001
), ArticleFig(id=1322218812729049238, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, language=EN, label=null, caption=null, figureFileSmall=null, figureFileBig=null, tableContent=
评分系统SCA类型FP
脊髓闭合障碍
（n=84）		脊髓空洞
（n=32）		蛛网膜囊肿
（n=1）		圆锥异常
（n=26）		脊髓栓系
（n=20）
Rintala12.44±3.29a11.06±3.04a9.0011.92±3.72a8.05±2.3510.392<0.001
PedsQL 4.081.17±4.97b77.94±4.1780.0080.35±5.08c75.90±3.358.852<0.001
), ArticleFig(id=1322218814528405656, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, language=CN, label=表3, caption=

各类型SCA的Rintala和PedsQL 4.0评分情况统计

, figureFileSmall=null, figureFileBig=null, tableContent=
评分系统SCA类型FP
脊髓闭合障碍
（n=84）		脊髓空洞
（n=32）		蛛网膜囊肿
（n=1）		圆锥异常
（n=26）		脊髓栓系
（n=20）
Rintala12.44±3.29a11.06±3.04a9.0011.92±3.72a8.05±2.3510.392<0.001
PedsQL 4.081.17±4.97b77.94±4.1780.0080.35±5.08c75.90±3.358.852<0.001
), ArticleFig(id=1322218814608097433, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, language=EN, label=null, caption=null, figureFileSmall=null, figureFileBig=null, tableContent=
评分系统/变量非标准化系数标准化系数tPVIFR2调整R2F
B标准误β
Rintala0.5950.588F=81.094，P<0.001
常数17.6910.309-57.166<0.001-
性别（女/男）-1.1180.239-0.182-4.684<0.0011.032
年龄/月-0.0040.014-0.012-0.3150.7531.005
SCA（无/单发/多发）-2.5760.180-0.617-14.322<0.0011.266
骶尾部骨异常（无/有）-1.510.269-0.244-5.613<0.0011.284
ARM类型-0.0120.083-0.006-0.1470.8841.038
PedsQL 4.00.4010.390F=36.939，P<0.001
常数87.6610.608-144.096<0.001-
性别（女/男）-0.9170.469-0.093-1.9550.0521.032
年龄/月0.0070.0270.0110.2450.0861.005
SCA（无/单发/多发）-3.5680.354-0.529-10.092<0.0011.266
骶尾部骨异常（无/有）-1.8170.529-0.181-3.4360.0011.284
ARM类型-0.0630.163-0.018-0.3850.7001.038
), ArticleFig(id=1322218814918475930, tenantId=1146029695717560320, journalId=1319373162502258839, articleId=1322218803384139873, language=CN, label=表4, caption=

Rintala评分和PedsQL 4.0量表的多因素线性回归分析

, figureFileSmall=null, figureFileBig=null, tableContent=
评分系统/变量非标准化系数标准化系数tPVIFR2调整R2F
B标准误β
Rintala0.5950.588F=81.094，P<0.001
常数17.6910.309-57.166<0.001-
性别（女/男）-1.1180.239-0.182-4.684<0.0011.032
年龄/月-0.0040.014-0.012-0.3150.7531.005
SCA（无/单发/多发）-2.5760.180-0.617-14.322<0.0011.266
骶尾部骨异常（无/有）-1.510.269-0.244-5.613<0.0011.284
ARM类型-0.0120.083-0.006-0.1470.8841.038
PedsQL 4.00.4010.390F=36.939，P<0.001
常数87.6610.608-144.096<0.001-
性别（女/男）-0.9170.469-0.093-1.9550.0521.032
年龄/月0.0070.0270.0110.2450.0861.005
SCA（无/单发/多发）-3.5680.354-0.529-10.092<0.0011.266
骶尾部骨异常（无/有）-1.8170.529-0.181-3.4360.0011.284
ARM类型-0.0630.163-0.018-0.3850.7001.038
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脊髓发育异常对先天性肛门直肠畸形患儿排便功能及生活质量的影响
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范林霄 , 冯伟 , 向晨翥 , 刘媛媛 , 侯金平 , 王佚
陆军军医大学学报 | 临床医学 2025,47(12): 1350-1357
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陆军军医大学学报 |临床医学 2025 , 47 (12) : 1350 -1357
脊髓发育异常对先天性肛门直肠畸形患儿排便功能及生活质量的影响
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范林霄, 冯伟, 向晨翥, 刘媛媛, 侯金平, 王佚
作者信息
  • 1重庆医科大学附属儿童医院普外新生儿外科，国家儿童健康与疾病临床医学研究中心，儿童发育疾病研究教育部重点实验室，儿科学重庆市重点实验室，重庆
通讯作者:
王佚，E-mail：
WANG Yi，E-mail：
Impact of spinal cord anomalies on defecation and quality of life in children with anorectal malformations
Linxiao FAN, Wei FENG, Chenzhu XIANG, Yuanyuan LIU, Jinping HOU, Yi WANG
Affiliations
  • 1Department of General & Neonatal Surgery，National Clinical Research Center for Child Health and Disorders，Key Laboratory of Child Development and Disorders of Ministry of Education，Chongqing Key Laboratory of Pediatrics，Children’s Hospital of Chongqing Medical University，Chongqing，China
出版时间: 2025-06-30 doi: 10.16016/j.2097-0927.202503028
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摘要
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目的

探讨先天性肛门直肠畸形（anorectal malformation，ARM）合并脊髓发育异常（spinal cord anomalies，SCA）患儿术后排便功能障碍和生活质量之间的关系，分析不同类型SCA对ARM患儿的影响，为临床早期识别可能的预后不良患儿提供参考。

方法

本研究回顾性分析了2015年6月至2021年4月期间重庆医科大学附属儿童医院普外新生儿外科收治的282例ARM患儿。通过影像学检查评估患儿的脊髓发育情况，并使用Rintala评分和PedsQL 4.0量表评价术后排便功能和生活质量。根据SCA的类型及其合并情况进行分组，分析其与排便功能及生活质量之间的关系。

结果

本组282例ARM患儿，其中104例（36.9%）存在SCA。不同ARM类型中，SCA发生率存在显著差异（P=0.002），阴道瘘患儿的SCA发生率最高（100.0%），而无瘘患儿最低（13.6%）。影像学显示，骶尾部骨异常较为常见，尾骨未见显示（62.7%）和椎体异常（69.8%）为主要表现。SCA组的Rintala排便功能评分（12.70±3.24）和PedsQL 4.0生活质量评分（81.42±5.03）均显著低于无SCA组（P<0.001）。随着合并SCA数量的增加，Rintala评分和PedsQL 4.0评分均呈现显著下降趋势（P<0.001）。不同SCA类型中，脊髓栓系患儿的Rintala评分（8.05±2.35）最低，显著低于其他类型（P<0.05）；同时其PedsQL 4.0评分（75.90±3.35）显著低于除脊髓空洞外的其他类型（P<0.05）。多元线性回归分析显示，SCA和骶尾部骨异常对Rintala评分和PedsQL 4.0评分均有显著负面影响（P≤0.001），其中SCA的影响最为显著。

结论

SCA与ARM患儿术后排便功能障碍及生活质量下降密切相关。SCA的类型和数量越多，患儿术后的排便功能和生活质量越差。早期识别合并的SCA，对于评估ARM患儿术后预后有积极意义。

先天性肛门直肠畸形  /  脊髓发育异常  /  排便功能障碍  /  生活质量
Objective‍

To explore the relationship between postoperative defecation dysfunction and quality of life in children with anorectal malformation (ARM) complicated with spinal cord anomalies (SCA) and analyze the impact of different types of SCA on ARM patients in order to provide a reference for the early clinical identification of high-risk children with poor prognosis.

Methods‍

A retrospective analysis was conducted on 282 ARM neonates admitted to our department between June 2015 and April 2021. Radiological examinations were applied to evaluate the development of the spinal cord, and Rintala score and the PedsQL 4.0 scale were employed to assess postoperative defecation function and quality of life, respectively. According to their SCA types and other complications, the patients were grouped. The relationship between these factors and defecation function as well as quality of life was then analyzed.

Results‍

Among the 282 subjected children, 104 (36.9%) had SCA. The incidence of SCA varied significantly across different types of ARM (P=0.002), with the highest incidence observed in vaginal fistula patients (100.0%) and the lowest in children without fistula (13.6%). Radiological findings revealed that sacral bone anomalies were common, with absent coccyx (62.7%) and vertebral anomalies (69.8%) being the most prevalent. The SCA group had significantly lower Rintala bowel function score (12.70±3.24) and PedsQL 4.0 quality of life score (81.42±5.03) than the non-SCA group (P<0.001). As the increment of SCA types, both the Rintala score and PedsQL 4.0 score were in a significant downward trend (P<0.001). Among the children with different types of SCA, those with tethered cord syndrome had the statistically lowest Rintala score (8.05±2.35, P<0.05). Meanwhile, their PedsQL 4.0 score (75.90±3.35) was significantly lower than those of other types except syrinx (P<0.05). Multiple linear regression analysis indicated that both SCA and sacral bone anomalies exerted notably negative impacts on the Rintala score and PedsQL 4.0 score (P≤0.001), with SCA having the most pronounced effect.

Conclusion‍

SCA is closely associated with postoperative defecation dysfunction and diminished quality of life in ARM children. The greater the type and number of SCAs, the worse the postoperative defecation function and quality of life. Early identification of concomitant SCAs holds significant clinical value for predicting postoperative outcomes in ARM patients.

congenital anorectal malformation  /  spinal cord anomalies  /  defecation dysfunction  /  quality of life
范林霄, 冯伟, 向晨翥, 刘媛媛, 侯金平, 王佚. 脊髓发育异常对先天性肛门直肠畸形患儿排便功能及生活质量的影响. 陆军军医大学学报, 2025 , 47 (12) : 1350 -1357 . DOI: 10.16016/j.2097-0927.202503028
Linxiao FAN, Wei FENG, Chenzhu XIANG, Yuanyuan LIU, Jinping HOU, Yi WANG. Impact of spinal cord anomalies on defecation and quality of life in children with anorectal malformations[J]. Journal of Army Medical University, 2025 , 47 (12) : 1350 -1357 . DOI: 10.16016/j.2097-0927.202503028
正文
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先天性肛门直肠畸形（anorectal malformation，ARM）是儿童最常见的先天性消化道畸形之一，发病率约为1/1 500~1/5 000［1］。外科手术解剖重建直肠肛门是该病的主要治疗手段。ARM患儿常合并脊髓发育异常（spinal cord anomalies，SCA），SCA与ARM术后并发症发生率的升高显著相关［2］。在术后随访的过程中发现，严重的便秘、污便等排便功能障碍是ARM肛门成形术后的严重并发症［3］，此类并发症常引起患儿心理、生理发育和社会活动能力障碍［4］。
作为区域儿科医疗中心，本课题组在系统、规范的随访中发现ARM患儿术后严重排便功能障碍的发生情况仍然存在，其发生可能与SCA有潜在关系。了解脊髓异常的发生与排便功能障碍之间的联系将有助于阐明排便功能障碍的发生原因，并为儿外科医生早期识别、评估以及干预提供参考。因此，本研究通过收集伴有脊髓发育异常的ARM患儿的临床数据，分析排便功能障碍的发生率、严重程度及其与SCA的相关性。
1　对象与方法
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1.1　研究对象
本研究回顾了重庆医科大学附属儿童医院普外新生儿外科从2015年6月到2021年4月收治的先天性肛门直肠畸形患儿的病历资料，纳入具有完整临床数据、同时配合并完成随访过程的患者共282例。纳入标准：①患儿ARM诊断明确并行肛门重建手术；②相关临床资料完整。排除标准：①于外院已行肛门重建手术；②患儿家属不配合诊疗者；③后续随访失联者。本研究经重庆医科大学附属儿童医院伦理委员会批准［（2025）年伦审（临研）第（28）号］。
1.2　数据收集
根据相关文献，回顾性收集的临床数据包括：①患儿基本信息：性别、年龄；②ARM畸形类型：由经验丰富的外科医生行肛门重建术后，根据Krickenbeck分型标准对所有ARM病例进行病理分型，包括尿道瘘、前庭瘘、会阴瘘、膀胱颈部瘘、直肠阴道瘘和无瘘等；③骶尾部发育情况：根据X线、CT及骶尾部MRI结果，由经验丰富的影像科医生评估骶骨尾骨发育、脊髓发育情况；④患儿骶尾部手术情况：由神经外科进行如脊膜松解术等针对脊髓病变进行的外科干预及其术式；⑤排便功能评价：使用Rintala评分进行，主要包括4个方面：大便控制、排便频率、污便情况及肛门反射，每个指标均按照标准评分方法进行量化分析，以客观反映患儿的排便功能情况，所有患儿均在3岁左右进行Rintala评分；⑥生活质量评估：采用PedsQL 4.0量表对儿童生活质量进行评估，包含4个核心维度：身体功能、情感功能、社交功能和学校功能。所有项目均采用5级评分（0~4分），得分越高表示生活质量越好，依据量表评分标准计算总分及各维度得分，以综合评估患者的生活质量水平。所有患儿均在2岁左右进行PedsQL 4.0量表评分。评分由2名经验丰富的外科医生独立进行，具体评分和量表细则见图1。
1.3　SCA及骶尾部骨异常的定义
根据相关文献［5］，将SCA分为5类：①脊髓闭合障碍，包含各种类型的脊柱裂，例如脊髓脂肪瘤、终丝脂肪变性等；②脊髓空洞，定义为脊髓中形成充满液体的管道样结构，例如中央管扩张；③蛛网膜囊肿，定义为蛛网膜内形成充满液体的囊性结构；④圆锥异常，指圆锥形态异常；⑤脊髓栓系，需满足脊髓圆锥位于腰椎L2水平以下。SCA的单发与多发定义如下：合并有单种类型SCA的患儿定义为单发SCA，同时合并有2种或2种以上SCA类型的患儿定义为多发SCA。
SCA伴有的骶尾部骨异常分为5类：①尾骨未见显示，定义为在X片或磁共振成像上未见尾骨；②脊柱生理曲度异常，指在X片或磁共振上发现脊柱生理曲度变直或者反张；③骶骨异常；④锥体异常；⑤骶骨合并锥体异常。
1.4　统计学分析
使用IBM SPSS Statistics 25进行统计分析。连续数据通过Shapiro-Wilk test评估数据的正态性，若符合正态分布，则使用独立样本t检验进行比较，表示为x¯±s；若不符合正态分布，则使用Mann-Whitney U检验，表示为M（P25，P75）。采分类数据用例（%）表示，用Fisher精确检验或χ2检验进行比较。采用单因素ANOVA分析进行多组间比较。多因素线性回归模型用于评估各因素对因变量的影响。P<0.05时认为差异具有统计学意义。
2　结果
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2.1　一般资料
研究对象的一般信息及SCA的分布情况见表1。共纳入282例患者，其中104例（36.9%）存在SCA。不同ARM类型中，SCA发生率存在显著差异（P=0.002），其中阴道瘘患者SCA发生率最高（100.0%），其次为前庭瘘（40.0%）、尿道瘘（39.7%）和膀胱颈部瘘（33.3%），最低的为会阴瘘（15.0%）和无瘘患儿（13.6%）。性别、年龄与SCA发生率无显著相关性（P>0.05）。影像学显示，骶尾部骨异常较为常见，尤以尾骨未见显示（62.7%）和椎体异常（69.8%）为主，但不同SCA组间无统计学差异（P=0.471）。此外，SCA组的Rintala评分（12.70±3.24）显著低于无SCA组（16.49±1.79，P<0.001）；SCA组的PedsQL 4.0评分（81.42±5.03）亦显著低于无SCA组（86.42±3.93，P<0.001），提示SCA可能对生活质量产生负面影响。
2.2　SCA的发生及畸形数量增加可能对患儿的排便功能与生活质量产生负面影响
表2显示了不同SCA合并情况对Rintala评分和PedsQL 4.0评分的影响。统计分析结果表明，随着SCA畸形数量的增加，Rintala评分和PedsQL 4.0评分均呈现显著下降趋势（P<0.001）。具体而言，无SCA组的Rintala评分（16.49±1.79）显著高于单发SCA组（14.32±2.09），而多发SCA组的评分最低（10.00±3.00），3组间差异具有统计学意义（F=163.935，P<0.001）。同样，在PedsQL 4.0评分方面，无SCA组（86.42±3.93）的得分最高，单发SCA组（83.97±4.05）次之，而多发SCA组（77.18±3.38）最低，差异具有统计学意义（F=91.423，P<0.001）。这些结果表明，SCA的发生及畸形数量增加可能对患者的功能状态和生活质量产生负面影响。
2.3　合并脊髓栓系的患儿排便功能与生活质量评分显著降低
统计不同SCA类型患儿的排便功能与生活质量评分，结果显示，脊髓闭合障碍（n=84）、脊髓空洞（n=32）、圆锥异常（n=26）和脊髓栓系（n=20）患者的Rintala评分分别为12.44±3.29、11.06±3.04、11.92±3.72和8.05±2.35，组间差异显著（F=10.392，P<0.001）。其中，脊髓栓系患儿的评分显著低于其他组（P<0.05）。在PedsOL4.0评分方面，脊髓闭合障碍、脊髓空洞、圆锥异常和脊髓栓系患者的评分分别为81.17±4.97、77.94±4.17、80.35±5.08和75.90±3.35，组间差异同样显著（F=8.852，P<0.001）。脊髓空洞和脊髓栓系患者的评分显著低于脊髓闭合障碍和圆锥异常患者（P<0.05）。蛛网膜囊肿因例数过少（n=1），未参与统计分析（表3）。
2.4　多因素线性回归分析发现SCA的有无是排便功能和生活质量评分的重要影响因素
通过多元线性回归分析探讨了各变量对Rintala排便功能评分的影响，结果显示，各自变量在整体上对Rintala评分具有统计学上的显著影响（F=81.094，P<0.001），能够解释Rintala评分59.5%的变异（R²=0.595，调整R²=0.588）。在纳入的自变量中，性别（女/男）（B=-1.118，P<0.001）、SCA（无/单发/多发）（B=-2.576，P<0.001）和骶尾部骨异常（无/有）（B=-1.510，P<0.001）对因变量有显著负向影响，其中SCA的标准化系数（β=-0.617）最大，表明其较其他自变量对Rintala评分造成的相对影响最为显著；年龄（月）（B=-0.004，P=0.753）和ARM类型（B=-0.012，P=0.884）对因变量的影响不显著。此外，所有自变量的方差膨胀因子（Variance inflation factor，VIF）均接近1，表明模型不存在多重共线性问题（表4）。
对PedsQL 4.0量表评分的多因素线性回归分析结果显示，模型的决定系数R²为0.401，调整R²为0.39，F检验结果为36.939，P<0.001，提示该模型整体具有统计学意义。在各变量中，SCA（无/单发/多发）对PedsQL 4.0评分的影响最为显著，其回归系数B为-3.568，标准化回归系数β为-0.529，t值为-10.092，P<0.001，表明SCA的增加显著降低PedsQL4.0评分。骶尾部骨异常（无/有）亦具有统计学意义，B为-1.817，β为-0.181，t值为-3.436，P=0.001。此外，性别对PedsQL 4.0评分的影响差异不具备统计学意义（P=0.052），而年龄（P=0.086）及ARM类型（P=0.700）未显示显著影响。所有变量的VIF均接近1，提示未见多重共线性问题（表4）。
3　讨论
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3.1　SCA与ARM的临床挑战
脊髓栓系等SCA是ARM较常见的合并畸形［6］。在对原发ARM病理类型及病情程度进行精准诊断和干预的基础上，ARM患儿合并SCA可能会给小儿外科医生的诊疗带来一定程度的挑战，通常需要小儿神经外科等专科医师进行评估与治疗［7］。与部分地区儿科医疗中心设有明确分科的小儿外科亚专科不同，许多成人综合医院及基层医院通常缺乏专门的小儿神经外科医师及小儿普外科医师，这对合并SCA的ARM患儿的综合诊断、治疗、转诊及预后评估带来了不利影响。
3.2　ARM术后排便功能的评估与SCA的影响
ARM患儿解剖结构的重建与排便功能的恢复是肛门重建术后需要重点关注的问题［8-10］。因此，Rintala评分作为一种广泛应用于评估患儿排便功能的工具，在ARM患儿中也发挥了重要作用［11］。Rintala评分根据分数的高低，将患儿的排便功能进行量化，为儿外科医生提供了直观的参考。本研究发现，合并SCA畸形的数量与Rintala评分呈负相关，即合并的SCA种类越多，评分越低，排便功能越差。这表明SCA的种类和畸形数量直接影响ARM患儿术后的排便功能。但仅使用Rintala评分评估排便功能稍显局限，未来研究可使用更客观的神经功能检测如肛门直肠测压、脊髓神经电生理检查等对Rintala评分结果进行补充和验证。
本研究结果表明，脊髓栓系在SCA的各类型中排便功能最差。在以往的研究中证明了这一结果，同时通过尿动力学或肛门直肠测压等方法可以评估脊髓栓系患儿的神经源性功能，以表现SCA对排便功能的负面影响［12］。但目前尚无研究明确指出SCA如何造成排便功能异常，推测其可能归因于神经发育异常、脊髓牵拉导致的神经损伤等。畸形的产生过程中，骶尾部神经的血流供应和神经传导功能出现不同程度的下降，使得控制排便的自主神经受到损害，最终出现神经源性的排便功能异常。有报道指出［13］，在对脊髓栓系患儿进行解栓手术后，大部分患儿的泌尿系统功能有所恢复、尿动力学显著改善，这也提示SCA造成的神经源性功能障碍是可逆的，能够通过针对性的治疗而获得恢复。
总之，对于脊髓栓系等严重SCA类型，单靠术后的神经营养和护理措施可能效果有限，大多数患儿需要及时的神经外科干预，才能实现较为理想的排便功能恢复［12，14-15］。
3.3　SCA对患儿生活质量的多维度影响
PedsQL 4.0问卷用于评估2岁以上患儿的生活质量，从生活、社会、学习等5个方面进行评价，相比于Rintala评分更为广泛地关注排便功能之外的多维度因素的影响［16-18］。本研究发现，合并SCA的种类与数量越多，ARM患儿的PedsQL 4.0得分越低，这表明脊髓发育的影响不仅影响排便功能，还对患儿及其家庭的生活质量产生深远影响。患儿常因无法自主控制排便而遭遇外界的负面反馈，长期下来可能对其心理和智力发展产生不可逆的不良影响［4］。这一结果进一步强调了SCA的早期识别和及时干预对于ARM患儿预后的重要性。一些研究使用PedsQL 4.0问卷分析了不同类型的ARM患儿术后远期生活质量，发现其结果在各ARM类型之间并未存在显著差异［19］，出现这种阴性结果的原因可能是这些研究未将患儿合并有的各类型SCA作为潜在的影响因素纳入分析之中。因此，未来可能需要更大规模、多中心的研究来进行验证。
3.4　影响Rintala和PedsQL 4.0评分的多因素分析
本研究通过对Rintala和PedsQL 4.0评分的多因素线性回归模型分析发现，在纳入统计的全部ARM病例中，男性患儿、SCA（单发/多发）和存在骶尾部骨异常是作为Rintala评分低得分的3种独立危险因素存在，而SCA（单发/多发）和存在骶尾部骨异常是作为PedsQL 4.0评分量表低得分的2种独立危险因素存在。男性性别造成Rinala评分的低得分风险这一现象可能反映了潜在的性别相关认知或行为模式差异，目前尚无直接研究证明该结果。鉴于男女性别在SCA的罹患率上并无差异，推测在收集量表信息时，由于社会原因，监护人对男性患儿的症状变化、生活细节等过分关注［20］，造成医师在随访时获得监护人关于某些症状的过度反馈，从而影响最终得分。但也有研究指出在先天性巨结肠患儿中，性别、父母代理或自我报告对PedsQL 4.0得分并无影响［21］。这一结果还需要更大样本量和更多的研究进行验证。与之相比明确的是，SCA的有无、骶尾部骨异常的有无被广泛报道是影响患儿排便功能和生活质量的重要因素［22-24］。
综上所述，合并SCA的ARM患儿在术后排便功能和生活质量方面表现出显著个体差异，且SCA的种类和数量直接影响其预后。脊髓栓系等严重SCA类型对骶尾部神经及骨骼发育的影响尤为明显，最终造成患儿排便功能和生活质量的下降，增加了神经外科手术干预的必要性。临床上，儿外科医师在制定诊疗策略时，应充分考虑SCA对ARM术后功能恢复的影响，结合影像学与神经功能评估，早期识别高风险患儿并实施个体化治疗。未来应开展更多的大规模、多中心研究，进一步探讨不同类型ARM与SCA的关联机制，并优化相关诊疗规范，以改善患儿的长期预后和生活质量。

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doi: 10.16016/j.2097-0927.202503028
  • 接收时间：2025-03-07
  • 首发时间：2026-10-28
  • 出版时间：2025-06-30
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  • 收稿日期：2025-03-07
  • 修回日期：2025-05-09
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    1重庆医科大学附属儿童医院普外新生儿外科，国家儿童健康与疾病临床医学研究中心，儿童发育疾病研究教育部重点实验室，儿科学重庆市重点实验室，重庆

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