Clinical Differentiation between a Normal Anus, Anterior Anus, Congenital Anal Stenosis, and Perineal Fistula: Definitions and Consequences—The ARM-Net Consortium Consensus

In the past, an anteriorly located anus was often misdiagnosed and treated as an anorectal malformation (ARM) with a perineal fistula (PF). The paper aims to define the criteria for a normal anus, an anterior anus (AA) as an anatomic variant, and milder types of ARM such as congenital anal stenosis (CAS) and PF. An extensive literature search was performed by a working group of the ARM-Net Consortium concerning the subject “Normal Anus, AA, and mild ARM”. A consensus on definitions, clinical characteristics, diagnostic management, and treatment modalities was established, and a diagnostic algorithm was proposed. The algorithm enables pediatricians, midwives, gynecologists, and surgeons to make a timely correct diagnosis of any abnormally looking anus and initiate further management if needed. Thus, the routine physical inspection of a newborn should include the inspection of the anus and define its position, relation to the external sphincter, and caliber. A correct diagnosis and use of the presented terminology will avoid misclassifications and allow the initiation of correct management. This will provide a reliable comparison of different therapeutic management and outcomes of these patient cohorts in the future

A Quality Assessment of the ARM-Net Registry Design and Data Collection.

BACKGROUND: Registries are important in rare disease research. The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting demographic, clinical, and functional outcome data. We assessed the quality of this registry through review of the structure, data elements, collected data, and user experience. MATERIAL AND METHODS: Design and data elements were assessed for completeness, consistency, usefulness, accuracy, validity, and comparability. An intra- and inter-user variability study was conducted through monitoring and re-registration of patients. User experience was assessed via a questionnaire on registration, design of registry, and satisfaction. RESULTS: We evaluated 119 data elements, of which 107 were utilized and comprised 42 string and 65 numeric elements. A minority (37.0%) of the 2278 included records had complete data, though this improved to 83.5% when follow-up elements were excluded. Intra-observer variability demonstrated 11.7% incongruence, while inter-observer variability was 14.7%. Users were predominantly pediatric surgeons and typically registered patients within 11-30 min. Users did not experience any significant difficulties with data entry and were generally satisfied with the registry, but preferred more longitudinal data and patient-reported outcomes. CONCLUSIONS: The ARM-Net registry presents one of the largest ARM cohorts. Although its collected data are valuable, they are susceptible to error and user variability. Continuous evaluations are required to maintain relevant and high-quality data and to achieve long-term sustainability. With the recommendations resulting from this study, we call for rare disease patient registries to take example and aim to continuously improve their data quality to enhance the small, but impactful, field of rare disease research. LEVEL OF EVIDENCE: V

Anorectal prolapse after anorectal reconstruction : Incidence and risk factors according to the ARM-Net Consortium

Aim: There is a knowledge gap regarding which patients with anorectal malformations (ARMs) are at highest risk of anorectal prolapse (AP), and which risk factors predispose to AP in ARM. The aims of the study were to define the frequency of AP after ARM reconstruction, and explore risk factors. Method: Data from the ARM-Net registry inserted between 2007 and 2023 were used. Inclusion criteria were the reconstruction performed, no stoma at 1-year follow-up and all data available at 1-year follow-up. The statistics used were univariable and multivariable logistic regression models. Results: After exclusions the incidence of AP was 163 in 1117 patients (14.6%) in data inserted by 31 centres from 12 countries. The AP incidence was unevenly distributed between the centres (interquartile range 6.3%–21.7%). AP was more frequent in boys than girls (20.9% vs. 8.1%; P < 0.001). In both sexes the incidence of AP was higher in complex ARM subtypes (P < 0.001). AP was most frequent after laparotomy- and laparoscopic-assisted reconstructions (50.0% and 37.5%, respectively). Spinal and sacral anomalies constituted risk factors for AP in univariable analyses, while tethered cord did not. Adjusted risk factors for AP were severity of ARM subtype (40% in long-channel cloaca and bladder neck fistula, OR 3.1, 95% CI 1.0–10.2), laparotomy-assisted posterior sagittal anorectoplasty (50%, OR 3.7, 95% CI 1.6–8.4) and larger neo-anus at 1-year follow-up (Hegar 13.6 vs. 13.1; OR 1.2, 95% CI 1.1–1.4). Constipation was not a risk factor for AP. Conclusion: Anorectal prolapse is a frequent postoperative sequela. Adjusted analyses indicate that severity of ARM, abdominal open access during reconstruction and larger size of anus are risk factors

High-grade Vesicoureteral Reflux in Patients With Anorectal Malformation From the ARM-Net Registry : Is Our Screening Sufficient?

Background: Vesico-ureteral reflux (VUR) is a common associated urological anomaly in anorectal malformation (ARM)-patients. High-grade VUR requires antibiotic prophylaxis to prevent urinary tract infections (UTI's), renal scarring and -failure. The exact prevalence of high-grade VUR in ARM patients is unknown. Hence, the aim of this study was determining the incidence of high-grade VUR in ARM-patients, and its associated risk factors. Methods: A multicenter retrospective cohort study was performed using the ARM-Net registry, including data from 34 centers. Patient characteristics, screening for and presence of renal anomalies and VUR, sacral and spinal anomalies, and sacral ratio were registered. Phenotypes of ARM were grouped according to their complexity in complex and less complex. Multivariable analyses were performed to detect independent risk factors for high-grade (grade III-V) VUR. Results: This study included 2502 patients (50 % female). Renal screening was performed in 2250 patients (90 %), of whom 648 (29 %) had a renal anomaly documented. VUR-screening was performed in 789 patients (32 %), establishing high-grade VUR in 150 (19 %). In patients with a normal renal screening, high-grade VUR was still present in 10 % of patients. Independent risk factors for presence of high-grade VUR were a complex ARM (OR 2.6, 95 %CI 1.6–4.3), and any renal anomaly (OR 3.3, 95 %CI 2.1–5.3). Conclusions: Although renal screening is performed in the vast majority of patients, only 32 % underwent VUR-screening. Complex ARM and any renal anomaly were independent risk factors for high-grade VUR. Remarkably, 10 % had high-grade VUR despite normal renal screening. Therefore, VUR-screening seems indicated in all ARM patients regardless of renal screening results, to prevent sequelae such as UTI's, renal scarring and ultimately renal failure. Type of Study: Observational Cohort-Study. Level of Evidence: III

Anorectal prolapse after anorectal reconstruction [Elektronisk resurs] : Incidence and risk factors according to the ARM-Net Consortium

Aim: There is a knowledge gap regarding which patients with anorectal malformations (ARMs) are at highest risk of anorectal prolapse (AP), and which risk factors predispose to AP in ARM. The aims of the study were to define the frequency of AP after ARM reconstruction, and explore risk factors. Method: Data from the ARM-Net registry inserted between 2007 and 2023 were used. Inclusion criteria were the reconstruction performed, no stoma at 1-year follow-up and all data available at 1-year follow-up. The statistics used were univariable and multivariable logistic regression models. Results: After exclusions the incidence of AP was 163 in 1117 patients (14.6%) in data inserted by 31 centres from 12 countries. The AP incidence was unevenly distributed between the centres (interquartile range 6.3%–21.7%). AP was more frequent in boys than girls (20.9% vs. 8.1%; P < 0.001). In both sexes the incidence of AP was higher in complex ARM subtypes (P < 0.001). AP was most frequent after laparotomy- and laparoscopic-assisted reconstructions (50.0% and 37.5%, respectively). Spinal and sacral anomalies constituted risk factors for AP in univariable analyses, while tethered cord did not. Adjusted risk factors for AP were severity of ARM subtype (40% in long-channel cloaca and bladder neck fistula, OR 3.1, 95% CI 1.0–10.2), laparotomy-assisted posterior sagittal anorectoplasty (50%, OR 3.7, 95% CI 1.6–8.4) and larger neo-anus at 1-year follow-up (Hegar 13.6 vs. 13.1; OR 1.2, 95% CI 1.1–1.4). Constipation was not a risk factor for AP. Conclusion: Anorectal prolapse is a frequent postoperative sequela. Adjusted analyses indicate that severity of ARM, abdominal open access during reconstruction and larger size of anus are risk factors

What do pediatric surgeons think about sexual issues in dealing with patients with anorectal malformations? The ARM-Net consortium members' opinion

PURPOSE: Since pediatric surgeons aim to follow their patients with anorectal malformations (ARM) into adulthood the aim of this study was to investigate how pediatric surgeons deal with sexual issues related to ARM. METHODS: In 2018, a questionnaire was developed by the working group "Follow-up and sexuality" of the ARM-Net consortium and sent to all consortium-linked pediatric surgeons from 31 European pediatric surgical centers. Obtained data were statistically analyzed. RESULTS: Twenty-eight of 37 pediatric surgeons (18 males/10 females) answered the questionnaire. The majority of pediatric surgeons (82%) think they should talk about sexual issues with their patient. More than 50% of pediatric surgeons do not feel at all or only moderately confident discussing the topic of sexuality. Most pediatric surgeons require more support (96%) and wish to be trained in sexuality and sexual issues (78%) to feel confident towards their ARM-patients/parents. For optimal care, sexual issues with ARM-patients should be managed by a multidisciplinary team. CONCLUSIONS: Pediatric surgeons feel that sexuality is an important issue for their ARM-patients, which they are primarily responsible of but should be managed in concert with a multidisciplinary team. A training in sexuality is wished to feel more confident about this specific issue.status: publishe

Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study

BACKGROUND: Outcome of patients operated for anorectal malformation (ARM) type rectovestibular fistula (RVF) is generally considered to be good. However, large multi-center studies are scarce, mostly describing pooled outcome of different ARM-types, in adult patients. Therefore, counseling parents concerning the bowel function at early age is challenging. Aim of this study was to evaluate bowel function of RVF-patients at preschool/early childhood age and determine risk factors for poor functional outcome. METHODS: A multi-center cohort study was performed. Patient characteristics, associated anomalies, sacral ratio, surgical procedures, post-reconstructive complications, one-year constipation, and Bowel Function Score (BFS) at 4-7 years of follow-up were registered. Groups with below normal (BFS < 17; subgroups 'poor' ≤ 11, and 'fair' 11 < BFS < 17) and good outcome (BFS ≥ 17) were formed. Univariable analyses were performed to detect risk factors for outcome. RESULTS: The study included 111 RVF-patients. Median BFS was 16 (range 6-20). The 'below normal' group consisted of 61 patients (55.0%). Overall, we reported soiling, fecal accidents, and constipation in 64.9%, 35.1% and 70.3%, respectively. Bowel management was performed in 23.4% of patients. Risk factors for poor outcome were tethered cord and low sacral ratio, while sacral anomalies, low sacral ratio, prior enterostomy, post-reconstructive complications, and one-year constipation were for being on bowel management. CONCLUSIONS: Although median BFS at 4-7 year follow-up is nearly normal, the majority of patients suffers from some degree of soiling and constipation, and almost 25% needs bowel management. Several factors were associated with poor bowel function outcome and bowel management. LEVEL OF EVIDENCE: Level III.status: publishe

Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study

Background: Outcome of patients operated for anorectal malformation (ARM) type rectovestibular fistula (RVF) is generally considered to be good. However, large multi-center studies are scarce, mostly describing pooled outcome of different ARM-types, in adult patients. Therefore, counseling parents concerning the bowel function at early age is challenging. Aim of this study was to evaluate bowel function of RVF-patients at preschool/early childhood age and determine risk factors for poor functional outcome. Methods: A multi-center cohort study was performed. Patient characteristics, associated anomalies, sacral ratio, surgical procedures, post-reconstructive complications, one-year constipation, and Bowel Function Score (BFS) at 4–7 years of follow-up were registered. Groups with below normal (BFS < 17; subgroups ‘poor’ ≤ 11, and ‘fair’ 11 < BFS < 17) and good outcome (BFS ≥ 17) were formed. Univariable analyses were performed to detect risk factors for outcome. Results: The study included 111 RVF-patients. Median BFS was 16 (range 6–20). The ‘below normal’ group consisted of 61 patients (55.0%). Overall, we reported soiling, fecal accidents, and constipation in 64.9%, 35.1% and 70.3%, respectively. Bowel management was performed in 23.4% of patients. Risk factors for poor outcome were tethered cord and low sacral ratio, while sacral anomalies, low sacral ratio, prior enterostomy, post-reconstructive complications, and one-year constipation were for being on bowel management. Conclusions: Although median BFS at 4–7 year follow-up is nearly normal, the majority of patients suffers from some degree of soiling and constipation, and almost 25% needs bowel management. Several factors were associated with poor bowel function outcome and bowel management. Level of Evidence: Level III