Experiences of youth growing up with anorectal malformation or Hirschsprung's disease: a multicenter qualitative in-depth interview study.

PURPOSE: Patients with anorectal malformation (ARM) and Hirschsprung's disease (HD) live with long-term impact of these diseases even into adulthood. We aimed to explore the physical, social and emotional impact of these diseases in adolescents and young adults to develop best practices for transition care. METHODS: We conducted one-on-one in-depth interviews with ARM and HD patients aged ≥ 11 years who had undergone surgery at four tertiary referral centers. All interviews were audio-recorded and transcribed verbatim. We analyzed transcripts for recurring themes, and data were collected until data saturation was reached. Three researchers independently coded the transcripts for major themes using thematic analysis approach. RESULTS: We interviewed 16 participants (11 males) between October 2022 and April 2023. Ages ranged from 11 to 26 years. Five major themes emerged: (1) personal impact (subthemes: physical, emotional and mental health, social, school), (2) impact on family, (3) perceptions of their future (subthemes: relationships, career, state of health), (4) sources of support (subthemes: family, peers, partner), and (5) transition care (subthemes: concerns, expectations). Only females expressed concerns regarding future fertility. CONCLUSION: This study highlights the evolving problems faced by adolescents and young adults with ARM and HD, especially gender-specific concerns. Our findings can inform efforts to provide individualized care.

Risk factors for delayed extubation after pediatric perineal anaplasty in patients less than 1 year of age: a retrospective study.

BACKGROUND: Anorectal malformation is a common congenital problem occurring in 1 in 5,000 births and has a spectrum of anatomical presentations, requiring individualized surgical treatments for normal growth. Delayed extubation or reintubation may result in a longer intensive care unit (ICU) stay and hospital stay, increased mortality, prolonged duration of mechanical ventilation, increased tracheostomy rate, and higher hospital costs. Extensive studies have focused on the role of risk factors in early extubation during major infant surgery such as Cardiac surgery, neurosurgery, and liver surgery. However, no study has mentioned the influencing factors of delayed extubation in neonates and infants undergoing angioplasty surgery. MATERIALS AND METHODS: We performed a retrospective study of neonates and infants who underwent anorectal malformation surgery between June 2018 and June 2022. The principal goal of this study was to observe the incidence of delayed extubation in pediatric anorectal malformation surgery. The secondary goals were to identify the factors associated with delayed extubation in these infants. RESULTS: We collected data describing 123 patients who had anorectal malformations from 2019 to 2022. It shows that 74(60.2%) in the normal intubation group and 49(39.8%) in the longer extubation. In the final model, anesthesia methods were independently associated with delayed extubation (P < 0.05). CONCLUSION: We found that the anesthesia method was independently associated with early extubation in neonates and infants who accepted pediatric anorectal malformation surgery.

Spatial transcriptomics reveals gene interactions and signaling pathway dynamics in rat embryos with anorectal malformation.

Anorectal malformation (ARM) is a prevalent early pregnancy digestive tract anomaly. The intricate anatomy of the embryonic cloaca region makes it challenging for traditional high-throughput sequencing methods to capture location-specific information. Spatial transcriptomics was used to sequence libraries of frozen sections from embryonic rats at gestational days (GD) 14 to 16, covering both normal and ARM cases. Bioinformatics analyses and predictions were performed using methods such as WGCNA, GSEA, and PROGENy. Immunofluorescence staining was used to verify gene expression levels. Gene expression data was obtained with anatomical annotations of clusters, focusing on the cloaca region's location-specific traits. WGCNA revealed gene modules linked to normal and ARM cloacal anatomy development, with cooperation between modules on GD14 and GD15. Differential gene expression profiles and functional enrichment were presented. Notably, protein levels of Pcsk9, Hmgb2, and Sod1 were found to be downregulated in the GD15 ARM hindgut. The PROGENy algorithm predicted the activity and interplay of common signaling pathways in embryonic sections, highlighting their synergistic and complementary effects. A competing endogenous RNA (ceRNA) regulatory network was constructed from whole transcriptome data. Spatial transcriptomics provided location-specific cloaca region gene expression. Diverse bioinformatics analyses deepened our understanding of ARM's molecular interactions, guiding future research and providing insights into gene regulation in ARM development.

Assessment of long-term quality of life, bowel and voiding function outcomes in patients with anorectal malformation at a single UK centre.

AIMS: Assess long-term quality of life (QoL), bowel and voiding function in anorectal malformation (ARM) paediatric patients. METHOD: Retrospective review of ARM patients between 2007 and 2020 was performed. QoL (all patients), bowel and voiding function (> 5 yo) were assessed using the paediatric quality of life inventory (PedsQL), paediatric incontinence and constipation score (PICS) and dysfunctional voiding scoring system (DVSS), respectively. RESULTS: There were 122 patients (49% female, 85 > 5 yo) with ARM. Two had died, four refused, twenty-two were non-contactable, leaving ninety-four patients (65 > 5 yo) included. Mean age was 89 months (19-183), and follow-up was 86 months (13-183). Patients had significantly poorer scores for QoL, bowel and voiding function compared to published healthy controls. 57% had poor bowel function, 32% had poor voiding function and 38% required 'ancillary aids' to facilitate function. Patients using 'ancillary aids' for voiding function had a significantly lower QoL (parent: 62 vs 77; p = 0.01, patient: 66 vs 79; p = 0.05). Bowel continence was worse in those with high vs low ARM (13 vs 20, p = 0.004) and timely vs delayed diagnosis (17 vs 24, p = 0.04). CONCLUSION: Patients with ARM have significantly worse QoL, bowel and voiding function than normal healthy controls. There is a need for long-term monitoring of function and further support for these children. LEVEL OF EVIDENCE: III.

Correlation between congenital pelvic floor muscle development assessed by magnetic resonance imaging and postoperative defecation.

OBJECTIVE: Children with congenital anorectal malformation (CAM) experience challenges with defecation. This study aims to assess defecation in preschool-age children with CAM and to evaluate the correlation between pelvic floor muscle developed assessed by magnetic resonance imaging (MRI) and postoperative defecation. METHODS: We collected clinical data and MRI results from 89 male children with CAM. The bowel function scores for children with Perineal (cutaneous) fistula, Rectourethral fistula(Prostatic or Bulbar), and Rectovesical fistula were computed. MRI scans were subjected to image analysis of the striated muscle complex (SMC). The association between pelvic floor muscle score and bowel function score was examined using the Cochran-Armitage Trend Test. RESULTS: We observed that 77.4% of the SMC scores by MRI for Perineal fistula were good. The Rectourethral fistula SMC score was 40.6% for moderate and 59.4% for poor. The SMC score for Rectovesical fistula was 100% for moderate. Furthermore, 77.4% of patients with Perineal fistula had bowel function scores (BFS) ≥ 17 points. Among those with Rectourethral fistula and Rectovesical fistula, 12.5% and 0 had BFS ≥ 17 points, respectively. An analysis of muscle development and bowel function in patients with Rectovesical fistula, Rectourethral fistula, and Perineal fistula revealed a correlation between SMC development and BFS. Subgroup analysis showed that the Perineal fistula had statistical significance; however, the Rectourethral fistula and Rectovesical fistula were not statistically significant. CONCLUSION: A correlation exists between pelvic floor muscle development and postoperative defecation in children with Perineal fistula.

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.

Transition From Pediatric to Adult Healthcare for Colorectal Conditions: A Systematic Review.

BACKGROUND: Despite surgical advances for complex congenital colorectal conditions, such as anorectal malformation (ARM) and Hirschsprung disease (HD), many adolescents require transfer from specialist pediatric to adult providers for ongoing care. METHODOLOGY: A systematic review of PubMed, MEDLINE and Embase was conducted to identify what is known about the transitional care of patients with ARM and HD (PROSPERO # CRD42022281558). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) framework guided our reporting of studies that focused on the transition care of 10-30-year-olds with ARM and HD. RESULTS: Eight studies were identified that included patient and parent (n = 188), and/or clinician perspectives (n = 334). Patients and clinicians agreed that transitional care should commence early in adolescence to support transfer to adult care when a suitable level of maturation is reached. There was little evidence from patients that transfer happened in a timely or coordinated manner. Patients felt that clinicians did not always understand the significance of transfer to adult services. No models of transition care were identified. Surgeons ranked ARM and HD as the most common conditions to experience delayed transfer to adult care. Beyond pediatric surgeons, patients also highlighted the importance of general practitioners, transitional care coordinators and peer support groups for successful transition. CONCLUSIONS: There is little research focused on transitional care for patients with ARM and HD. Given evidence of delayed transfer and poor experiences, the development of models of transitional care appears essential.

Clinical application of middle descending colon-double lumen ostomy with distal stoma narrowing in the treatment of anorectal malformation.

BACKGROUND: Anorectal malformations (ARMs) are the most common congenital anomaly of the digestive tract. And colostomy should be performed as the first-stage procedure in neonates diagnosed with intermediate- or high-type ARMs. However, the most classic Pe˜na's colostomy still has some disadvantages such as complicated operation procedure, susceptibility to infection, a greater possibility of postoperative incision dehiscence, difficulty of nursing and large surgical trauma and incision scarring when closing the stoma. We aimed to explore the effectiveness of middle descending colon-double lumen ostomy (MDCDLO) in the treatment of high and intermediate types of anorectal malformations. METHODS: We retrospectively reviewed the data of patients who underwent MDCDLO for high or intermediate types of ARMs between June 2016 and December 2021 in our hospital. The basic characteristics were recorded. All patients were followed up monthly to determine if any complication happen. RESULTS: There were 17 boys and 6 girls diagnosed with high or intermediate types of ARMs in our hospital between June 2016 and December 2021. All 23 patients were cured without complications such as abdominal incision infection, stoma stenosis, incisional hernia, and urinary tract infection in the postoperative follow-up time of 6 months to 6 years except one case of proximal intestinal prolapse was restored under anesthesia. CONCLUSION: MDCDLO offers the advantages of simplicity, efficiency, safety, mild trauma, and small scarring in the treatment of high and intermediate types of anorectal malformations.

Comparison of the PCPLC Database to NSQIP-P: A Patient Matched Comparison of Surgical Complications Following Repair of Anorectal Malformation.

BACKGROUND: Anorectal malformations (ARM) are rare and heterogenous which creates a challenge in conducting research and offering recommendations for best practice. The Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) was formed in 2016 to address this challenge and created a shared national data registry to collect information about pediatric colorectal patients. There has been no external validation of the data collected. We sought to evaluate the database by performing a patient matched analysis comparing 30-day outcomes identified in the PCPLC registry with the NSQIP-P database for patients undergoing surgical repair of ARM. METHODS: Patients captured in the PCPLC database from 2016 to 2021 at institutions also participating in NSQIP-P who underwent ARM repair younger than 12 months old were reviewed for 30-day complications. These patients were matched to their NSQIP-P record using their hospital identification number, and records were compared for concordance in identified complications. RESULTS: A total of 591 patient records met inclusion criteria in the PCPLC database. Of these, 180 patients were also reviewed by NSQIP-P. One hundred and fifty-six patient records had no complications recorded. Twenty-four patient records had a complication listed in one or both databases. There was a 91 % concordance rate between databases. When excluding complications not tracked in the PCPLC registry, this agreement improved to 93 %. CONCLUSION: Including all patients evaluated for this subpopulation, a 91 % concordance rate was observed when comparing PCPLC collected complications to NSQIP-P. Future efforts can focus on further validating the data within the PCPLC for other patient populations. LEVEL OF EVIDENCE: V.

Experience with colostomy and colostomy reversal in children in Bauchi.

Background: Colostomy is one of the common surgical procedures performed in pediatric surgical practice. The aim of this study was to retrospectively review our experience with colostomy and closure (reversal) in children. Patients and Methods: A retrospective review of the data of all children aged 15 years and below who had colostomy and colostomy closure in the past 5 years. Results: Of the 67 children who had colostomy 42 (62.7%) boys and 25 (37.3%) girls, with an age range between 13 months and 8 years. Fifty-six (83.6%) of the children were <2 years. Anorectal malformation 53 (79.1%) was the common indication. Divided colostomy was performed in 62 (92.5%) patients and loop colostomy was performed in 5 (7.5%) patients. All the patients had intraperitoneal colostomy closure. A complication rate of 26.4% was seen. Duration of hospital stay ranged between 4 and 10 days. No mortality was recorded. Conclusion: Colostomy reversal is a safe procedure but morbidity may ensure and can easily manage.

Résumé Contexte: La colostomie est l'une des interventions chirurgicales courantes pratiquées en chirurgie pédiatrique. Le but de cette étude était de revoir rétrospectivement notre expérience en matière de colostomie et de fermeture (inversion) chez les enfants. Méthode: Une revue rétrospective des données de tous les enfants âgés de 15 ans et moins ayant subi une colostomie et une fermeture de colostomie au cours des 5 dernières années. Résultats: Sur les 67 enfants ayant subi une colostomie, 42 (62,7 %) garçons et 25 (37,3 %) filles, avec une tranche d'âge comprise entre 13 mois et 8 ans. Cinquante-six (83,6 %) des enfants avaient moins de 2 ans. La malformation ano-rectale 53 (79,1 %) était l'indication fréquente. Une colostomie divisée a été réalisée chez 62 (92,5 %) patients et une colostomie en anse réalisée chez 5 (7,5 %) patients. Tous les patients ont eu une colostomie intrapéritonéale fermée. Un taux de complications de 26,4 % a été observé. La durée du séjour à l'hôpital variait entre 4 et 10 jours. Aucune mortalité enregistrée. Conclusion: l'inversion de la colostomie est une procédure sûre mais la morbidité peut être assurée et peut être facilement gérée.

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.

Neurodevelopmental evaluation of children who were operated due to congenital anomaly with the 'Ages and Stages Questionnaire (ASQ)' and 'ASQ: Social-Emotional'.

BACKGROUND: The purpose of surgeries performed for congenital anomalies in children is to increase the survival rates and provide a developmental comparison to that of their peers. AIM: The objective of this study was to investigate the development of children following surgery for congenital anomalies and the risk factors affecting their development. METHODS: Our study included 33 children who underwent surgery for gastrointestinal anomalies in our clinic between 2011 and 2016, and did not have any syndrome, chromosomal abnormality, or additional abnormality. Developmental levels were evaluated using the Ages and Stages Questionnaire (ASQ) and the ASQ: Social-Emotional (ASQ: SE) scales adapted for the use on Turkish children. Data on patient history were obtained retrospectively from patient files. RESULTS: The study included 33 patients, including 11 with esophageal atresia, 6 with intestinal atresia, 11 with anorectal malformation, and 5 with Hirschsprung's disease. Developmental delay was found in the ASQ of 72.7% of the patients and the ASQ: SE tool was 27% of the patients. The rate of patients with scores below the threshold from each parameter of ASQ was higher than that of the normal population (p < 0.05). Development delay was detected using the ASQ scale in 100% of those with microcephaly at birth, in 91% of premature infants born between 1500 and 2500 g, and in 83.3% of those with low birth weight to gestational age. CONCLUSIONS: In children who underwent surgery due to congenital anomalies, an evaluation through developmental tests, a post-surgical follow-up process, and a referral to the relevant disciplines when necessary may increase the success of surgery as well as increase the life quality of the patient.

Translation and validation of the Hirschsprung and anorectal malformation quality of life (HAQL) questionnaire in a Danish Hirschsprung population.

BACKGROUND: Hirschsprung's disease (HD) may result in an impaired quality of life (QoL) due to bowel problems, postoperative complications and other health-related issues. The Hirschsprung and Anorectal Malformation Quality of Life (HAQL) questionnaire is a disease-specific instrument developed in the Netherlands to measure the QoL in patients with HD and anorectal malformations. The aim of this study was to translate, culturally adapt and validate HAQL in a Danish Hirschsprung population. MATERIAL AND METHODS: Translation and cultural adaptation were performed according to international guidelines. Invitations to participate in the validation were sent to 401 patients operated for HD during the period from 1985 to 2012. A total of 156 patients completed the translated and culturally adapted Danish versions of HAQL and 35 parents of children and adolescents completed the corresponding parent questionnaire. Reliability was evaluated in terms of internal consistency using Cronbach's α and test-retest reliability using Intraclass Correlation Coefficient for the retest step. Known groups comparison was performed with comparison of mild HD (defined as recto-sigmoidal HD) and serious HD (defined as more proximal disease). RESULTS: The internal consistency of the dimensions was overall satisfactory for adults and adolescents but more problematic for children, where Cronbach's α was less than 0.7 in 60% of the dimensions. For both children and adolescents, the α-value was unsatisfactory for social functioning, emotional functioning, and body image. The test-retest reliability was overall good. The known groups comparison was only able to demonstrate a significant difference between mild and severe HD within one dimension. CONCLUSIONS: The translated version of the HAQL questionnaires provides an overall reliable instrument for evaluating disease-specific QoL in a Danish HD population, but it is important to acknowledge the limitations of the questionnaire, especially in children and adolescents.

Resultados del uso del irrigador transanal en la disfunción intestinal asociada a malformaciones anorrectales / Results of the use of the transanal irrigator in intestinal dysfunction associated with anorectal malformations

Introducción: Existen múltiples herramientas para optimizar la función defecatoria en pacientes con malformación anorrectal (MAR): hábitos, laxantes, irrigaciones retrógradas o anterógradas. Estas se adecuan de forma progresiva y combinada. El objetivo de este estudio fue evaluar la incorporación del dispositivo de irrigación transanal (ITA) al tratamiento del estreñimiento y la incontinencia fecal en pacientes con MAR. Materiales y métodos: Estudio retrospectivo en pacientes con MAR con indicación del ITA según el protocolo de manejo intestinal del consultorio de patología colorrectal desde el 2015 al 2022. Tras usarlo más de 3 meses, los pacientes o sus cuidadores completaron un cuestionario telefónico propio aprobado por el comité de ética. Resultados: 39 pacientes con MAR: 11 fístulas rectouretrales, 6 rectovesicales, 16 cloacas, 2 rectovaginales, 2 perineales y 2 vestibulares. El 44% presentó un Índice Sacro < 0,4. El 62% presentaban estreñimiento y el 38% incontinencia. Debido al uso del ITA, mejoró la sensación de confianza y seguridad en muy alto y alto grado en el 89% de los pacientes. Disminuyó mucho el tiempo dedicado a su manejo intestinal en el 68%. El 79% refiere mejoría en su calidad de vida con 9 y 10 puntos. El 92% calificaron su satisfacción general con ITA con un valor de 8, 9 y 10 siendo 10 completamente satisfecho. El 100% lo recomiendan. Conclusión. El ITA es una buena alternativa para el manejo intestinal de la incontinencia fecal y el estreñimiento.(AU)

Introduction: There are multiple tools available to optimize defecation in patients with anorectal malformation (ARM), such as habits, laxatives, and retrograde or anterograde irrigations, which are usually adapted in a progressive and combined fashion. The objective of this study was to assess the incorporation of transanal irrigation (TAI) to constipation and fecal incontinence treatment in patients with ARM. Materials and methods: A retrospective study of ARM patients with indication of TAI according to the colorectal pathology unit’s intestinal management protocol from 2015 to 2022 was carried out. Following use for over 3 months, patients or their guardians completed a phone survey of our own approved by the ethics committee. Results. 39 ARM patients participated in the study. Pathologies included 11 rectourethral fistulas, 6 rectovesical fistulas, 16 cloacae, 2 rectovaginal fistulas, 2 perineal fistulas, and 2 vestibular fistulas. 44% of them had a sacral index < 0.4. 62% had constipation, and 38% had incontinence. Thanks to TAI, confidence and safety improved in a very high and a high degree in 89% of the patients, whereas time devoted to intestinal management decreased a lot in 68% of them. 79% reported a 9- and 10-point quality-of-life improvement. 92% rated overall satisfaction with TAI with a score of 8, 9, and 10 –10 meaning “completely satisfied.” 100% recommend TAI. Conclusion. TAI is a good alternative for the intestinal management of fecal incontinence and constipation.(AU)

Adult urological outcomes for patients with anorectal malformation.

Anorectal malformations (ARM) are rare congenital anomalies characterized by a spectrum of defects resulting in the absence of a normal anal opening with or without fistula. Urogenital involvement is common, and the fistulous tract may terminate in the genitourinary system in males or within gynecological structures in females. Surgical reconstruction occurs early in life and survival of these patients to adulthood is the norm. There has, therefore, been increased focus on their long-term outcomes to better anticipate and treat the sequelae that may impact their health and well-being as this population ages. For urologists, urinary health, sexual function, and fertility outcomes are of particular interest among this population. This article aims to provide a review of urological, sexual, and fertility outcomes for individuals born with ARM with a focus on key issues that may occur later in life to ensure adequate counseling, screening, and treatment.

Functional Outcomes of Patients Who Underwent Anorectal Malformation Repair Using MRI Guidance.

BACKGROUND: Despite the initiation of minimally invasive laparoscopic techniques, the majority of patients who undergo anorectal malformation repair still experience functional bowel issues in childhood, including constipation and fecal incontinence. In this study, we evaluate the functional outcomes of a procedure in which magnetic resonance imaging guidance is used during initial laparoscopic repair to better locate the epicenter of the sphincter muscle complex and pelvic floor with the goal of more accurate placement of the neoanus and improved functional outcomes. METHODS: A retrospective chart review evaluated demographic, operative, and outcome details for patients who underwent this procedure. A telephone survey was employed to determine levels of social continence using the validated Baylor Continence Scale and to determine what type of bowel management is used. RESULTS: Twenty-six patients were included. Median age at operation was 7 months, and median age at follow-up was 4 years old, with a range of 1-9. Bowel management regimen results revealed that 19 % (n = 5) use no bowel management regimen, 58 % (n = 15) use laxatives only, and 23 % (n = 6) use enemas. Enema use was not associated with different spine or sacral anomalies (p = 0.77). Fifteen patients (58 %) answered the Baylor Continence Scale questions and had a median score of 14. No difference was found in scores when accounting for lesion level (p = 0.43), quality of needle placement (p = 0.46), or quality of sphincter muscles (p = 0.75). CONCLUSIONS: Using MRI guidance in the repair of anorectal malformations shows promise in both the qualitative and quantitative functional outcomes of this complex patient population. LEVEL OF EVIDENCE: Level III.

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.

Results of transanal irrigation in intestinal dysfunction associated with anorectal malformations. / Resultados del uso del irrigador transanal en la disfunción intestinal asociada a malformaciones anorrectales.

INTRODUCTION: There are multiple tools available to optimize defecation in patients with anorectal malformation (ARM), such as habits, laxatives, and retrograde or anterograde irrigations, which are usually adapted in a progressive and combined fashion. The objective of this study was to assess the incorporation of transanal irrigation (TAI) to constipation and fecal incontinence treatment in patients with ARM. MATERIALS AND METHODS: A retrospective study of ARM patients with indication of TAI according to the colorectal pathology unit's intestinal management protocol from 2015 to 2022 was carried out. Following use for over 3 months, patients or their guardians completed a phone survey of our own approved by the ethics committee. RESULTS: 39 ARM patients participated in the study. Pathologies included 11 rectourethral fistulas, 6 rectovesical fistulas, 16 cloacae, 2 rectovaginal fistulas, 2 perineal fistulas, and 2 vestibular fistulas. 44% of them had a sacral index < 0.4. 62% had constipation, and 38% had incontinence. Thanks to TAI, confidence and safety improved in a very high and a high degree in 89% of the patients, whereas time devoted to intestinal management decreased a lot in 68% of them. 79% reported a 9- and 10-point quality-of-life improvement. 92% rated overall satisfaction with TAI with a score of 8, 9, and 10 - 10 meaning "completely satisfied." 100% recommend TAI. CONCLUSION: TAI is a good alternative for the intestinal management of fecal incontinence and constipation.

INTRODUCCION: Existen múltiples herramientas para optimizar la función defecatoria en pacientes con malformación anorrectal (MAR): hábitos, laxantes, irrigaciones retrógradas o anterógradas. Estas se adecuan de forma progresiva y combinada. El objetivo de este estudio fue evaluar la incorporación del dispositivo de irrigación transanal (ITA) al tratamiento del estreñimiento y la incontinencia fecal en pacientes con MAR. MATERIAL Y METODOS: Estudio retrospectivo en pacientes con MAR con indicación del ITA según el protocolo de manejo intestinal del consultorio de patología colorrectal desde el 2015 al 2022. Tras usarlo más de 3 meses, los pacientes o sus cuidadores completaron un cuestionario telefónico propio aprobado por el comité de ética. RESULTADOS: 39 pacientes con MAR: 11 fístulas rectouretrales, 6 rectovesicales, 16 cloacas, 2 rectovaginales, 2 perineales y 2 vestibulares. El 44% presentó un Índice Sacro < 0,4. El 62% presentaban estreñimiento y el 38% incontinencia. Debido al uso del ITA, mejoró la sensación de confianza y seguridad en muy alto y alto grado en el 89% de los pacientes. Disminuyó mucho el tiempo dedicado a su manejo intestinal en el 68%. El 79% refiere mejoría en su calidad de vida con 9 y 10 puntos. El 92% calificaron su satisfacción general con ITA con un valor de 8, 9 y 10 siendo 10 completamente satisfecho. El 100% lo recomiendan. CONCLUSION: El ITA es una buena alternativa para el manejo intestinal de la incontinencia fecal y el estreñimiento.