Hassan Layla, Rosenberg Charlotte B M, Cortenraad Shauna A M, Kimman Merel L, Haanen Michel, van Gemert Wim G, Visschers Ruben Gerardus Johannes
University of Antwerp, Antwerpen, Belgium
Department of Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Centre, Maastricht, UK.
BMJ Paediatr Open. 2025 Jul 15;9(1):e003192. doi: 10.1136/bmjpo-2024-003192.
Being born with an anorectal malformation (ARM) often leads to lifelong issues with faecal and urinary function, as well as challenges in sexual, emotional and psychosocial development. Even when anatomical correction is achieved, full functional recovery is not guaranteed. Despite several international consensus meetings with leading medical professionals in the ARM field, there is still no agreement on the essential outcome domains that should be measured for ARM treatment and follow-up. Therefore, the goal of this systematic review is to identify all the outcomes reported in literature.
This systematic review adhered to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, aiming to identify all short- and long-term outcomes in ARM studies. A literature search was conducted in PubMed and Embase for studies from 1 January 2009 to 1 May 2023, using terms related to 'anorectal malformation'. The Cochrane Library was also searched, but no relevant reviews were found. Eligibility criteria included studies mentioning ARM outcomes in the title or abstract. Exclusions were non-mention of ARM outcomes, lack of full text, and non-English or non-Dutch language. Data extraction by two reviewers captured author details, study design, patient characteristics, ARM types and outcomes, categorised by occurrence time and reporter. Outcomes were consolidated from 339 unique outcomes into 25 domains according to the Core Outcome Measures in Effectiveness Trial () taxonomy and categorised into five core areas: 'mortality/survival', 'physiological/clinical', 'life impact', 'resource use' and 'adverse events'.
Out of 348 eligible studies, 118 met the inclusion criteria. These were mostly conducted in Europe (47%), Asia (34%) and North America (11%), with designs including retrospective (36%), cross-sectional (23%) and case reports/series (18%). Patient numbers ranged from 1 to 1206, with many studies lacking clear descriptions of surgical techniques (29%) and age categories (21%). A total of 339 outcomes were identified, categorised into 25 domains per the COMET taxonomy. Mentioned most frequently were 'physiological/clinical' outcomes (772 mentions), with 'gastrointestinal outcomes' being predominant. Long-term outcomes were most common (71%), followed by both short and long term (16%), and short term (13%). Outcomes were mainly reported by medical professionals (59%), with only 10% being patient-reported outcomes. Various measurement tools were used, including validated and self-made instruments, with the international classification (Krickenbeck) being the most used rating scale for postoperative results. Many studies lacked detailed descriptions and validation of their measurement methods.The identified outcomes in this review will be used as an input to eventually develop a Core Outcome Set.
先天性肛门直肠畸形（ARM）常常导致粪便和泌尿功能的终身问题，以及性、情感和心理社会发展方面的挑战。即使实现了解剖学矫正，也不能保证完全恢复功能。尽管与ARM领域的顶尖医学专家召开了多次国际共识会议，但对于ARM治疗和随访应测量的基本结局领域仍未达成一致。因此，本系统评价的目的是识别文献中报道的所有结局。
本系统评价遵循系统评价和Meta分析的首选报告项目指南，旨在识别ARM研究中的所有短期和长期结局。在PubMed和Embase中检索2009年1月1日至2023年5月1日的研究，使用与“肛门直肠畸形”相关的术语。还检索了Cochrane图书馆，但未找到相关综述。纳入标准包括在标题或摘要中提及ARM结局的研究。排除标准为未提及ARM结局、缺乏全文以及非英语或非荷兰语的研究。由两名审阅者进行数据提取，记录作者详细信息、研究设计、患者特征、ARM类型和结局，并按发生时间和报告者进行分类。根据有效性试验核心结局测量（COMET）分类法，将结局从339个独特结局整合为25个领域，并分为五个核心领域：“死亡率/生存率”、“生理/临床”、“生活影响”、“资源利用”和“不良事件”。
在348项符合条件的研究中，118项符合纳入标准。这些研究大多在欧洲（47%）、亚洲（34%）和北美（11%）进行，设计包括回顾性研究（36%）、横断面研究（23%）和病例报告/系列研究（18%）。患者人数从1到1206不等，许多研究缺乏对手术技术（29%）和年龄类别（21%）的清晰描述。共识别出339个结局，根据COMET分类法分为25个领域。提及最频繁的是“生理/临床”结局（772次提及），其中“胃肠道结局”占主导。长期结局最为常见（71%），其次是短期和长期结局（16%）以及短期结局（13%）。结局主要由医学专业人员报告（59%），只有10%是患者报告的结局。使用了各种测量工具，包括经过验证的工具和自制工具，国际分类（Krickenbeck）是术后结果最常用的评分量表。许多研究缺乏对其测量方法的详细描述和验证。本综述中识别出的结局将作为最终制定核心结局集的输入。
