Incidence of associated anomalies in children with anorectal malformation: A 1-year prospective observational study in a low-income setting.

Anorectal malformations (ARMs) consist of a range of anomalies that are often associated with other anomalies The purpose of the study is to assess the incidence of associated congenital anomalies that are seen in patients with ARMs. An observational prospective study was conducted on 162 cases with ARM from February 2019 to January 2020, and data were collected on patient demographics, type of ARM, and associated anomalies using a prestructured questionnaire and analysis done using SPSS (IBM), version 23, software. Relevant statistical analysis was done, and the results are presented in tables and charts. Of 162 cases studied, 70 of them were males and 92 were females with a male-to-female ratio of 0.76:1. The majority of male patients (45%) had rectourethral fistulas, whereas 63% of the females had rectovestibular fistula. While 76 (47%) patients presented with isolated ARM, 86 (53%) had ≥1 associated congenital malformations. Forty-eight (30%) patients presented with a single associated anomaly, whereas 20 (12%) patients had≥3 associated anomalies. The commonest associated anomalies were urologic 26.5% followed by genital (22.8%), cardiac 20.4%, and musculoskeletal 16.6%, and 12.3% of them had vertebral; anorectal; cardiac; tracheoesophageal fistula; renal; limb association. More than half of the children have other associated abnormalities. We found urogenital anomalies to be the most common associated congenital defects. A lower incidence of cardiac and spinal cord anomalies was noted suggesting a need for active workup to be in line with the latest standards of care.

Anorectal Malformations (ARM) and associated maternal factors among children at Tikur Anbessa Specialized Hospital and St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia: An unmatched case-control study.

INTRODUCTION: Anorectal malformations (ARMs) are birth defects that affect the rectum, anus, and surrounding structures. While genetic and environmental factors may contribute to the risk of developing ARMs, the exact causes are largely unknown. Notably, there is a lack of research investigating predisposing factors for ARMs within the Ethiopian population, despite the burden of this condition in the country. OBJECTIVE: The research study aimed at to examine the maternal risk factors linked to the occurrence of anorectal abnormalities in children receiving treatment at designated public hospitals located in Addis Ababa, Ethiopia. METHODS: An unmatched case-control study was conducted at selected hospitals on mothers and their children between August 2022 and January 2023. The sample consisted of pediatric patients admitted to pediatric surgical units. Cases were diagnosed with ARMs, while controls had no congenital anomalies. Data was collected from the mothers of both cases and controls. The data was validated and then exported to SPSS version 26 for analysis. The analysis employed descriptive statistics and binary logistic regression. In a multivariable model, an adjusted odds ratio (AOR) together with a 95% confidence interval and p-value < 0.05 was used to determine significance. RESULT: This study included 68 ARM cases and 136 controls. Multivariable analysis found that a family history of birth defects (AOR = 6.15, 95% CI: 1.24-30.58), maternal alcohol use (AOR = 4.71, 95% CI: 1.71-12.00), first-trimester medication use (AOR = 4.86, 95% CI: 1.29-18.32), advanced maternal age (AOR = 4.22, 95% CI: 1.21-14.69), and unplanned pregnancy (AOR = 3.701, 95% CI: 1.551-8.828) were significant risk factors for ARM. CONCLUSION: The study found that key risk factors for ARM include family history of birth defects, maternal alcohol use, first-trimester medication use, advanced maternal age, and unplanned pregnancy. These findings underscore the importance of tailored prevention strategies and screening programs to address the genetic, maternal lifestyle, and maternal health factors that contribute to this congenital disorder.

Genital Malformations in Children With VACTERL - Has Time Come to Include "G" in the Acronym?

BACKGROUND: Genital malformations are frequently diagnosed in patients with VACTERL, but are currently not included in the acronym. This study aimed to analyze the frequency of genital anomalies in patients with esophageal atresia (EA) and/or anorectal malformation (ARM), with a subgroup analysis of children fulfilling the VACTERL criteria. METHOD: This was a cross-sectional retrospective analysis of two prospectively collected registries of patients operated on for ARM and EA between 2012 and 2022 at a specialized national center. Children were screened routinely for malformations according to the VACTERL acronym. RESULTS: A total of 174 children were included in the study. VACTERL was diagnosed in 60 children (34%), while 114 children (66%) were defined as non-VACTERL. Genital malformations were diagnosed in 38% (23/60) of the children with VACTERL, and in 11% (13/114) of the children without VACTERL (p < 0.001). The presence of genital malformations correlated linearly with the number of diagnosed component features (CFs). In boys with VACTERL, the most common genital malformation was undescended testes present in 10/27 (21%) compared to 1/71 (1%) in non-VACTERL boys (p < 0.001). Müllerian duct anomalies were found in 26% of girls with VACTERL vs. 7% in non-VACTERL girls (p < 0.05). CONCLUSION: There was a higher frequency of genital malformations in patients with VACTERL emphasizing the importance of genital assessment for these patients. We propose VACTERL-G as an extension of the current acronym aiming to reduce the risk of long-term morbidity due to delayed diagnosis of reproductive anomalies.

Neighborhood-level Disparities in Achievement of Social Continence Among School-aged Children With Anorectal Malformations: A Single-center Retrospective Study.

BACKGROUND: Fecal incontinence is a common problem for children with repaired anorectal malformations (ARM) and has significant implications for initiating school. While sex, anatomy, and medical comorbidities are known to influence continence outcomes, the impact of socioeconomic factors and neighborhood-level disadvantage are less well understood. METHODS: We performed a single-center retrospective review of all school-aged (5-18 years) children with ARM at a longitudinal pediatric surgery clinic. Demographic, clinical, and socioeconomic variables were abstracted via chart review and geocoding was performed to obtain Area Deprivation Index (ADI) and Social Vulnerability Index (SVI) scores. Statistical analyses assessed for associations between the primary outcome of social continence (defined as no diaper usage and infrequent fecal accidents at age 5) and these variables. RESULTS: 72 patients were included; of these, 45.8% were socially continent. On bivariate analysis, social continence was significantly associated with state ADI score as well as the SVI Housing characteristics score. These associations remained significant when adjusting for sex and medical comorbidities in separate multiple logistic regression models. CONCLUSION: The relative disadvantage of the neighborhood in which a child with ARM lives may play a role in their ability to achieve continence by school age. Efforts are warranted to identify and develop targeted interventions to for this pediatric population. LEVEL OF EVIDENCE: IV.

Expansion of the core features of VACTERL association to include genital anomalies.

Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital anomalies have been reported in adolescents and young adults with VACTERL association. We sought to determine the frequency and severity of genital anomalies in VACTERL patients and identify which core features were more frequently associated with genital anomalies. A retrospective chart review from January 2010 to October 2021 identified 211 patients with two or more core VACTERL features, 34% of whom had a genital anomaly. The majority of genital anomalies (83% of those in males and 90% in females) were classified as functionally significant (requiring surgical intervention or causing functional impairment). The frequency of genital anomalies in the VACTERL cohort was higher if anorectal malformations or renal anomalies were present in both males and females and if vertebral anomalies were present in females. Due to their functional significance, genital anomalies should be assessed in all patients with two or more core features of VACTERL association, especially in those with anorectal or renal anomalies. Most genital anomalies in males will be detected on physical examination but additional investigation is often needed to detect genital anomalies in females. The timing and type of investigation are subjects for future study.

A Population-Based Cohort Study on Diagnosis and Early Management of Anorectal Malformation in the UK and Ireland.

BACKGROUND: This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis. METHODS: A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression. RESULTS: Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI95{9-20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0-4.26), having a visible perineal opening (OR 2.63; 1.21-5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47-141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram. CONCLUSION: There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted. LEVEL OF EVIDENCE: II (Prospective Cohort Study <80% follow-up).

Comparison of postoperative urinary complications in laparoscopic-assisted anorectoplasty versus posterior sagittal anorectoplasty for anorectal malformation with rectourethral fistula.

BACKGROUND: Long-term urinary outcomes after anorectal malformation (ARM) repair are affected by surgical approach and sacral anomalies. This study aimed to compare laparoscopic-assisted anorectoplasty (LAARP) and posterior sagittal anorectoplasty (PSARP) in terms of urinary complications. METHODS: Between 2001 and 2022, 45 patients were treated with LAARP or PSARP. The rectourethral fistula and inflow angle between the fistula and rectum was confirmed by preoperative colonography. The incidence of urinary complications and treatment were compared between the two groups. RESULTS: Four patients (14%) had remnant fistula and five patients (17%) had neurogenic bladder dysfunction in LAARP group, while three patients (18%) had urethral injury in PSARP group. All patients with remnant fistula were asymptomatic and followed without treatment. The incidence of remnant fistula improved between earlier decade and later decade. In all cases with urethral injury, suture repair was performed and no postoperative leakage was noted. All five patients with neurogenic bladder dysfunction had spine abnormalities that required clean intermittent catheterization (CIC) and two were free from CIC finally. CONCLUSIONS: It is important to check inflow angle preoperatively to prevent remnant fistula. For PSARP, meticulous dissection is required when separating fistula from urethra because they create common wall. The most contributing factor to neurogenic bladder is sacral anomalies. Preoperative evaluation and postoperative urinary drainage are important.

Prevalence of Mental Health Disorders in Individuals With Gastrointestinal Congenital Surgical Anomalies: A Systematic Review and Meta-analysis.

PURPOSE: Studies examining functional outcomes and health-related quality of life for patients with congenital surgical anomalies (CSA) are increasingly common. However, the prevalence of mental health disorders in this population has not been determined. The purpose of this review is to summarize the reported prevalence of mental health disorders in children born with gastrointestinal CSA. METHODS: A systematic review of the literature was conducted on Medline (OVID), EMBASE (OVID), CINAHL (EbscoHost), and Scopus to identify studies reporting mental health diagnoses in children with a gastrointestinal CSA. A meta-analysis of the prevalence of anxiety disorders and depressive disorders was completed. RESULTS: Of 2546 manuscripts, seven met the inclusion criteria. All included manuscripts looked at patients with anorectal malformation (ARM) and/or Hirschsprung disease (HD). No studies assessed other gastrointestinal CSAs. A total of 183 psychiatric diagnoses were reported in 1167 patients. A pooled analysis of ARM patients revealed a 14.0% prevalence of anxiety disorders (N = 208; CI95 = 4.4-23.4%) and an 18.75% prevalence of depressive disorders (N = 48; CI95 = 7.7-29.8%). A pooled analysis of HD patients revealed a 15.8% prevalence of anxiety disorders (N = 19; CI95 = 0.6-32.2%) and a 4.75% prevalence of depressive disorders (N = 758; CI95 = 3.23-6.26%). CONCLUSIONS: There is a paucity of evidence on mental health outcomes of individuals born with gastrointestinal CSA. However, the available evidence suggested a high prevalence of mental health diagnoses in individuals born with ARM or HD with 1 in 7 having an anxiety disorder. Additionally, 1 in 5 ARM patients and 1 in 20 HD patients were diagnosed with a depressive disorder. TYPE OF STUDY: Systematic review and meta-analysis. LEVEL OF EVIDENCE: IV.

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 malformations (ARM) and VACTERL association and severity of congenital heart diseases (CHD): Experience of 396 consecutive patients in a tertiary center.

OBJECTIVE: Congenital heart diseases (CHD) are the most frequently associated anomalies with anorectal malformations (ARM). Nevertheless, many specific aspects of CHD in ARM patients have yet to be studied. The aims of this study were to evaluate the prevalence and distribution of CHD in neonates-infants with ARM, and to explore whether the severity of ARM, and the presence of VACTERL association, had an impact on CHD rate, severity, and timing at first cardiac surgery. STUDY DESIGN: All consecutive newborn-infants with ARM managed in our tertiary center (January-1999; December-2021) were collected from a prospective database and retrospectively analyzed. Prevalence and distribution of CHD in ARM patients were assessed. Patients were divided into groups depending on ARM severity and presence of VACTERL association. Pairwise comparison for CHD prevalence, severity, and timing at first cardiac surgery was performed between groups. RESULTS: Of 396 ARM patients identified, those with severe ARM showed a higher number of overall CHD compared to patients with non-severe ARM (36.7 % vs. 25.2 %, p = 0.032). VACTERL + patients had a significantly higher prevalence of CHD (73.4 % vs. 16.4 %; p <0.001) and major CHD (51.7 % vs. 26.9 %; p = 0.008) when compared with VACTERL-patients. Furthermore, VACTERL + patients underwent first cardiac surgery at a significantly younger age than VACTERL-patients (5.2 ± 15.2 months vs. 11.9 ± 6.3, p = 0.039). CONCLUSIONS: Patients with severe ARM had a higher number of CHD compared to patients with non-severe ARM. VATERL + patients had significantly more CHD and more severe CHD than VACTERL-patients. Early screening for CHD is strongly recommended in all newborns diagnosed with ARM before surgery. LEVEL OF EVIDENCE: III retrospective comparative study.

Clinical characteristics of congenital heart defects in mild congenital anorectal malformation: single-centre experience.

OBJECTIVE: To analyze the clinical characteristics and types of congenital heart defect (CHD) in mild congenital anorectal malformation (CARM), namely the rectoperineal and rectovestibular fistulas. METHODS: The retrospective study of 183 patients with mild CARM was conducted with assessments of demographic information, color Doppler echocardiography results, and follow-up data. We performed an analysis of the clinical characteristics of CHD, grouping them based on sex and type of mild CARM. RESULTS: Of the 183 patients, rectoperineal fistula occurred in 133 patients (72.7%), while the frequency of CHD was 79.8% (146/183). Ventricular septal defects (VSDs) occur more frequently in patients with rectoperineal fistula compared to those with rectovestibular fistula (1.5% vs. 10%), while the opposite trend was observed for patent ductus arteriosus (PDAs) (39.8% vs. 22.0%). Additionally, males presented higher frequency of PDA (42.7% vs. 26.4%) and self-healing (6 months: 87.2% vs. 42.6%; 12 months: 91.0% vs. 63.2%) than females. However, males had a lower rate of undergoing cardiac surgery (6.4% vs. 17.6%) and a younger median diagnosis age (1 day vs. 9 days). CONCLUSION: Our study indicates that there is a necessity for meticulous cardiac assessment and follow-up in neonates diagnosed with mild CARM.

Anatomical Gynecological Anomalies in Girls Born with Anorectal Malformations: A Retrospective Cohort Study of 128 Patients.

STUDY OBJECTIVE: In girls born with an anorectal malformation (ARM), anatomical gynecological anomalies (GA) may be present and might need treatment. Therefore, the aim of this study was to provide an overview of GA in girls born with ARM in our cohort. Additionally, diagnostic timing and methods for GA were assessed. METHODS: A retrospective mono-center study was performed from January 2000 to December 2022. All patients assigned female at birth were eligible for inclusion. GA were classified according to ESHRE/ESGE classification. Outcomes were the number of girls with GA with subsequent screening methods, factors associated with GA, and GA requiring treatment. Uni- and multivariable logistic regression analyses were performed to identify the association between baseline characteristics and the presence of GA. RESULTS: In total, 128 girls were included, of whom 30 (24.1%) had additional GA, with vaginal anomalies being present most often (n = 17). Fifty-six patients (43.8%) underwent full screening, and this number improved over time (37.7% before 2018 vs 72.7% after 2018; P = .003). Thirteen of 30 patients (43.3%) required surgical treatment for their GA, without the occurrence of postoperative complications. CONCLUSION: Additional GA were present in almost a quarter of the girls born with an ARM, with vaginal anomalies most often identified. Despite GA being most often found in patients with cloacal malformations, these anomalies were also identified in patients with other ARM types. Surgical treatment was required in almost half of the girls with GA. Therefore, this study emphasizes the importance of screening for GA in patients with an ARM, regardless of the ARM type.

Survival and factors associated with mortality among infants with anorectal malformation: a population-based study from a middle-income country.

Limited data on the survival of anorectal malformation (ARM) patients from lower- and middle-income countries is available. This retrospective population-based study from the State of Johor, Malaysia, determines the incidence, mortality rate, and survival of ARM patients and factors associated with mortality. Kaplan-Meier survival analysis was used to estimate the survival of ARM patients at 1, 5, and 10 years. In addition, multivariate Cox regression analysis was used to analyze mortality-related factors. There were 175 ARM patients among 803,850 live births, giving an overall ARM incidence of 2.2 (95% confidence interval [CI], 1.9 to 2.5) per 10,000 live births. The male-to-female ratio was 1.5:1. There were 122 (69%) non-isolated ARM, of which 41 were Trisomy-21 and 34 had VACTERL association. Seventy-three (42%) had congenital heart disease (CHD), with 38 severe and 35 non-severe CHD. Overall, 33 (19%) patients died, with a median age of death of 5.7 months (interquartile range (IQR) 25 days to 11.2 months). The overall estimated 1-, 5-, and 10-year survival rate for ARM patients was 82% (95% CI, 76-89%), 77% (95% CI, 70-84%), and 77% (95% CI, 70-84%), respectively. Univariate analysis shows that non-isolated ARM, VACTERL association, and severe CHD were associated with mortality. However, only severe CHD is the independent factor associated with mortality, with a hazard ratio of 4.0 (95% CI, 1.9-8.4).  Conclusion: CHD is common among ARM patients, and one in five ARM patients had a severe cardiac defect, significantly affecting their survival. What is Known: • VACTERL association and congenital heart disease are common in patient with anorectal malformation. • Low birth weight and prematurity are associated with a lower rate of survival. What is New: • Congenital heart disease is common in ARM patients in a middle-income country. • Severe congenital heart disease plays a significant role in the survival of patients with an anorectal malformation in lower- and middle-income countries.

Potential benefits of routine cystoscopy and vaginoscopy prior to reconstructive surgery in patients with an anorectal malformation.

PURPOSE: First, to assess the number of patients with anorectal malformations (ARM) in whom additional urological and/or gynecological anomalies were identified through routine screening with cysto- or vaginoscopy prior to reconstructive surgery. Second, to assess potential procedure-related complications. METHODS: Retrospective mono-center cohort study, including all ARM patients born between January 2019 and December 2022. Routine screening consisted of cystoscopy for male patients, with the addition of vaginoscopy for female patients. Chi-square was used to compare the screening percentages over time. RESULTS: In total, 38 patients were included, of whom 27 (71.1%) underwent cystoscopy ± vaginoscopy, without the occurrence of complications. Nine of 13 females (69.2%) underwent cysto- and vaginoscopy and 18 of 25 males (72.0%) underwent a cystoscopy. The percentage of patients that underwent these procedures improved over the 2 time periods (50.0% in 2019-2020 vs 90.0% in 2021-2022, p = 0.011). In 15 of 27 patients (55.6%) that underwent cystoscopy ± vaginoscopy, additional anomalies were found that were not identified through physical examination or US-kidney. CONCLUSIONS: In 56% of the patients that underwent cysto- ± vaginoscopy, additional anomalies were identified that were not with imaging studies or physical examination. This study emphasizes the potential benefit of routine cysto- and vaginoscopy in the diagnostic work-up of children with ARM. LEVEL OF EVIDENCE: III.

Rectal atresia and rectal stenosis: the ARM-Net Consortium experience.

PURPOSE: To assess the number, characteristics, and functional short-, and midterm outcomes of patients with rectal atresia (RA) and stenosis (RS) in the ARM-Net registry. METHODS: Patients with RA/RS were retrieved from the ARM-Net registry. Patient characteristics, associated anomalies, surgical approach, and functional bowel outcomes at 1 and 5-year follow-up were assessed. RESULTS: The ARM-Net registry included 2619 patients, of whom 36 (1.3%) had RA/RS. Median age at follow-up was 7.0 years (IQR 2.3-9.0). Twenty-three patients (63.9%, RA n = 13, RS n = 10) had additional anomalies. PSARP was the most performed reconstructive surgery for both RA (n = 9) and RS (n = 6) patients. At 1-year follow-up, 11/24 patients with known data (45.8%, RA n = 5, RS n = 6) were constipated, of whom 9 required stool softeners and/or laxatives. At 5-year follow-up, 8/9 patients with known data (88.9%, RA n = 4, RS n = 4) were constipated, all requiring laxatives and/or enema. CONCLUSION: RA and RS are rare types of ARM, representing 1.3% of patients in the ARM-Net registry. Additional anomalies were present in majority of patients. Different surgical approaches were performed as reconstructive treatment, with constipation occurring in 46% and 89% of the patients at 1 and 5-year follow-up. However, accurate evaluation of long-term functional outcomes remains challenging.

Rectal Prolapse Following Repair of Anorectal Malformation: Incidence, Risk Factors, and Management.

BACKGROUND: The incidence and optimal management of rectal prolapse following repair of an anorectal malformation (ARM) has not been well-defined. METHODS: A retrospective cohort study was performed utilizing data from the Pediatric Colorectal and Pelvic Learning Consortium registry. All children with a history of ARM repair were included. Our primary outcome was rectal prolapse. Secondary outcomes included operative management of prolapse and anoplasty stricture following operative management of prolapse. Univariate analyses were performed to identify patient factors associated with our primary and secondary outcomes. A multivariable logistic regression was developed to assess the association between laparoscopic ARM repair and rectal prolapse. RESULTS: A total of 1140 patients met inclusion criteria; 163 (14.3%) developed rectal prolapse. On univariate analysis, prolapse was significantly associated with male sex, sacral abnormalities, ARM type, ARM complexity, and laparoscopic ARM repairs (p < 0.001). ARM types with the highest rates of prolapse included rectourethral-prostatic fistula (29.2%), rectovesical/bladder neck fistula (28.8%), and cloaca (25.0%). Of those who developed prolapse, 110 (67.5%) underwent operative management. Anoplasty strictures developed in 27 (24.5%) patients after prolapse repair. After controlling for ARM type and hospital, laparoscopic ARM repair was not significantly associated with prolapse (adjusted odds ratio (95% CI): 1.50 (0.84, 2.66), p = 0.17). CONCLUSION: Rectal prolapse develops in a significant subset of patients following ARM repair. Risk factors for prolapse include male sex, complex ARM type, and sacral abnormalities. Further research investigating the indications for operative management of prolapse and operative techniques for prolapse repair are needed to define optimal treatment. TYPE OF STUDY: Retrospective cohort study. LEVEL OF EVIDENCE: II.

Screening for VACTERL Anomalies in Children with Anorectal Malformations: Outcomes of a Standardized Approach.

PURPOSE: The majority of patients with an anorectal malformation (ARM) have associated congenital anomalies. It is well established that all patients diagnosed with an ARM should undergo systematic screening, including renal, spinal, and cardiac imaging. This study aimed to evaluate the findings and completeness of screening, following local implementation of standardized protocols. METHODS: A retrospective cohort study was performed assessing all patients with an ARM managed at our tertiary pediatric surgical center, following a standardized protocol implementation for VACTERL screening (January 2016-December 2021). Cohort demographics, medical characteristics, and screening investigations were analyzed. Findings were compared with our previously published data (2000-2015), conducted prior to protocol implementation. RESULTS: One hundred twenty-seven (64 male, 50.4%) children were eligible for inclusion. Complete screening was performed in 107/127 (84.3%) children. Of these, one or more associated anomalies were diagnosed in 85/107 (79.4%), whilst the VACTERL association was demonstrated in 57/107 (53.3%). The proportion of children that underwent complete screening increased significantly in comparison with those assessed prior to protocol implementation (RR 0.43 [CI 0.27-0.66]; p < 0.001). Children with less complex ARM types were significantly less likely to receive complete screening (p = 0.028). Neither presence of an associated anomaly, nor prevalence of the VACTERL association, differed significantly by ARM type complexity. CONCLUSION: Screening for associated VACTERL anomalies in children with ARM was significantly improved following standardized protocol implementation. The prevalence of associated anomalies in our cohort supports the value of routine VACTERL screening in all children with ARM, regardless of malformation type. LEVEL OF EVIDENCE: II.

Spinal cord anomalies in children with anorectal malformations: a retrospective cohort study.

PURPOSE: First, to assess the number of spinal cord anomalies (SCA), specifically tethered spinal cord (TSC) in patients with anorectal malformations (ARM), identified with spinal cord imaging (i.e. spinal cord US and/or MRI). Second, to report outcomes after TSC treatment. METHODS: A retrospective mono-center study was performed. All ARM patients born between January 2000 and December 2021 were included. Screening for SCA consisted of spinal cord US and/or MRI. Radiology reports were scored on presence of SCA. Data were presented with descriptive statistics. RESULTS: In total, 254 patients were eligible for inclusion, of whom 234 (92.1%) underwent spinal cord imaging. In total, 52 (22.2%) patients had a SCA, diagnosed with US (n = 20, 38.5%), MRI (n = 10, 19.2%), or both US and MRI (n = 22, 42.3%), of whom 12 (23.5%) with simple, 27 (52.7%) intermediate, and 12 (23.5%) complex ARM types. TSC was identified in 19 patients (8.1%), of whom 4 (21.1%) underwent uncomplicated neurosurgical intervention. CONCLUSIONS: SCA were present in 22% of ARM patients both in simple, as well as more complex ARM types. TSC was present in 19 patients with SCA, of whom 4 underwent uncomplicated neurosurgical intervention. Therefore, screening for SCA seems to be important for all ARM patients, regardless of ARM type. LEVEL OF EVIDENCE: Level III.

Educational and mental health outcomes in school-aged children with anorectal malformations: A case-control cohort study.

PURPOSE: Outcome studies for patients with anorectal malformation (ARM) have focused on fecal incontinence and quality of life, but a comparison of educational outcomes between ARM cases and controls has not been reported. The purpose of this study was to assess real-world educational outcomes, neurodevelopmental disorders and mental health disorders in ARM patients and compare to an age-matched control group. METHODS: We performed a retrospective case-control study of children diagnosed with ARM from 1991 to 2017. We evaluated educational outcomes using an Early Developmental Instrument, Grades 3, 7, and 8 assessments, Grade 9 completion and performance, and high school graduation. Neurodevelopmental and mental health disorders were compared using International Classification of Diseases codes available from a population-based dataset. RESULTS: A total of 96 ARM cases and 960 controls were identified. Cases were at greater risk of failing to meet expectations on Grades 7 and 8 assessments. After entering high school, ARM patients were at no greater risk than their peers of failing to meet expectations. Cases were more likely to have a developmental or intellectual disability (OR 3.59, p < 0.001), anxiety (OR 1.86, p = 0.023), depression (OR 2.35, p = 0.022) or hyperactivity disorder (OR 2.01, p = 0.036). CONCLUSIONS: Our study demonstrated that ARM patients may be more likely to perform poorly in junior high school than controls and may be at greater risk of neurodevelopmental and mental health disorders. It is important for pediatric surgeons to anticipate these challenges and endorse psychosocial supports to optimize educational and mental health outcomes. LEVELS OF EVIDENCE: Level-Ⅲ.