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Constipation and fecal incontinence in pediatric patients are conditions due to either functional or organic bowel dysfunction and may represent a challenging situation both for parents, pediatricians, and pediatric surgeons. Different treatments have been proposed throughout the past decades with partial and alternant results and, among all proposed techniques, in the adult population the Transanal Irrigation (TAI) has become popular. However, little is known about its efficacy in children. Therefore, a group of Italian pediatric surgeons from different centers, all experts in bowel management, performed a literature review and discussed the best-practice for the use of TAI in the pediatric population. This article suggests some tips, such as the careful patients' selection, a structured training with expert in pediatric colorectal diseases, and a continuous follow-up, that are considered crucial for the full success of treatment.

Purpose: To evaluate bowel function in patients with anorectal malformations (ARM) comparing existing scoring systems., Methods: Parents of ARM patients treated at our institution were asked to fill in Holschneider, Kricknebeck, and Rintala questionnaires. Scores obtained from the questionnaires were expressed per cent and analyzed depending on the age and type of ARM according to Krickenbeck classification. Patients younger than 3 years of age or with developmental delay were excluded., Results: Eighty patients (42 males: 52%) were included. Median age was 7.6 years (range 3-22). Twenty eight patients (35%) had perineal fistula, 13 (16%) bulbar, 7 (9%) prostatic, 5 (6%) rectobladder neck, 15 (19%) vestibular, 7 (9%) had a cloaca and 5 (6%) imperforate anus without fistula. Using Holschneider, Krickenbeck, and Rintala, average scores were respectively 72, 71 and 73 (p = 0.4 with ANOVA). Using the three questionnaires patients with perineal fistula scored 82, 76 and 84 respectively (p = 0.003), with bulbar 70, 71, 73 (p = 0.8), with prostatic 52,69,59 (p = 0.06), with bladder neck 56, 80, 57 (p = 0.004), with vestibular 75,67,75 (p = 0.02), with cloaca 64, 67, 65 (p = 0.9), and with imperforate anus without fistula 61,49, 53 (p = 0.12). Patients from 3 to 6 years of age scored 74,72 and 76 (p = 0.37), from 7 to 12: 70,71 and 71 (p = 0.87), and older than twelve: 74,66 e 73 (p = 0.08)., Conclusion: The scores obtained using Holschneider, Rintala, and Krickenbeck questionnaires are significantly lower with increasing severity of the ARM. For each type of ARM there are some differences in the results obtained using the three questionnaires. In general, Krickenbeck and Peña questionnaires tend to give lower scores in patients with ARMs that have good prognosis, and higher scores for ARMs with poor prognosis. Age is not significantly related to the score obtained., Level of Evidence: III TYPE OF STUDY: Diagnostic study., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Background/purpose: Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum, anorectal malformation (ARM) and presacral mass, can be extremely variable. The triad is often incomplete and 3 main CS phenotypical subtypes have been described: Complete, Mild and Minimal. Various associated malformations are often present. Mutations in the MNX1 gene are the main genetic background of CS, although they are not present in almost half of the cases. Aim of our study is to analyze the distribution of the 3 CS subtypes and the incidence of associated malformations in a large sample of patients and to add information about the role of the genetic testing in guiding the diagnostic and prognostic evaluation of CS patients., Methods: A multicentre retrospective data collection was performed. CS patients' phenotype was accurately analyzed according to a diagnostic-therapeutic standardized data collection sheet. The distribution of the three CS types and the frequency of each associated malformation were calculated. The phenotype of the patients with a known genetic anomaly was compared to the phenotype of the population with no genetic diagnosis, in order to determine whether the presence of a known genetic defect could correlate with a more severe CS phenotype., Results: Data from 45 patients were analyzed. Twenty patients (44.5%) presented a Complete CS type, 19 (42.2%) a Mild CS and 6 (13.3%) a Minimal CS. In addition to the classical triad elements, 38 (84.5%) patients showed associated anomalies. The group of patients who resulted positive for a MNX1 mutation comprised a higher number (56.5%) of Complete CS cases than the group of patients that did not carry any MNX1 mutation (13%) (p = 0.0085). We could not find any relationship between CS subtype and the number of associated anomalies (p = 0.5102)., Conclusions: The presence of a MNX1 mutation seems to correlate with a more severe CS phenotype. MNX1 seems the main responsible for the expression and the severity of the CS triad, while the associated anomalies appear to be prevalently determined by genes sited on different loci. A thorough multidisciplinary diagnostic overview of CS patients should always include genetic counseling and analysis, both in postnatal and prenatal settings., Type of Study: Retrospective Study., Level of Evidence: II., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Purpose  The objective of this study was to investigate the current practices of anal dilations after anorectal reconstruction for anorectal malformations (ARMs) in different centers. Materials and Methods  An online survey, consisting of 27 questions about the practice of anal dilations, was launched in March 2015 among 54 pediatric surgeons with expertise in colorectal surgery. The survey was divided into three sections. The first section included questions regarding the country of origin, the role in the department, the average number of ARM cases treated per year, and the surgical approach used to repair ARMs. The second section was accessible only for surgeons who perform anal dilations and enquired about their modality of performing anal dilations-their attitude toward complications such as rectal prolapse, bleeding, or perineal dehiscence occurring during dilations-and about the incidence of rectal prolapse and/or anal stenosis, which required surgical repair, in their series of patients with ARMs. The third section was accessible only for surgeons who do not perform anal dilations and enquired the incidence of rectal prolapse and/or anal stenosis that required surgical repair in their series of patients with ARMs. Results  A total of 36 pediatric surgeons from 20 countries completed the survey. All participants performed anal dilations. Twenty-five (70%) surgeons performed the first dilation 14 days after anorectal reconstruction; 30 (83%) surgeons performed it in the outpatient clinic; 34 (94%) surgeons used metal dilators and 30 (83%) surgeons lubricated the dilator with an anesthetic/steroid-free ointment; 21 (59%) surgeons tailored the first dilator size to the specific anatomical features of each patient; 27 (75%) surgeons used 1-mm-diameter increments in the dilator size and 22 (61%) surgeons increased the size weekly; 16 (45%) surgeons followed up with the patients weekly until the proper dilator size was reached. This was determined according to Peña's protocol by 25 (70%) surgeons: 23(64%) surgeons initially performed dilations twice daily; 24(66%) surgeons tapered the frequency of dilations once the desired caliber was reached. No general agreement exists in the management of complications such as rectal prolapse, bleeding, or perineal dehiscence occurring during dilations. Incidence of rectal prolapse and anal stenosis was reported less than 5%, respectively, by 25(70%) and 29(81%) respondents. Conclusion  Anal dilations for ARM are performed worldwide according to different modalities. Prospective and randomized clinical trials could be useful to establish a standardized protocol., (Georg Thieme Verlag KG Stuttgart · New York.)

Background/purpose: To assess the anatomical results after posterior sagittal anorectoplasty (PSARP) by magnetic resonance imaging (MRI) and to evaluate the correlation of these findings with clinical outcomes., Methods: Patients followed-up at our center after PSARP, being at least 6year old, with neither evidence of sacral abnormalities nor spinal dysraphisms were prospectively included. Complex ARMs were excluded. MRI was performed on a 1.5T unit. T1- and T2-weighted sequences were acquired, in orthogonal planes, according to the anal canal orientation. The degree of anorectal centering in the muscle complex (DARC), the pelvic floor symmetry, the rectal maximum diameter, the fat tissue interposition, and the presence of fibrosis were evaluated. A clinical questionnaire (Rintala score) was filled in by the parents. MRI findings were compared to the clinical outcomes assessed by the Rintala score. For statistical analysis the Spearman rho correlation coefficient was calculated and the Wilcoxon rank-sum test was performed., Results: We recruited 11 patients (mean age 12years, range 6-19) with MRI. DARC (range 252-360°) was strongly correlated with the degree of fecal incontinence (rho=0.70), mildly with the ability to hold back defecation (rho=0.58), constipation (rho=0.46) and total Rintala score (rho=0.41). Pelvic floor symmetry correlated with the frequency of defecation (rho=0.58). Rectal maximum diameter negatively correlated with the ability to feel the urge to defecate (rho=-0.60). Patients with fibrosis were slightly more constipated (p=0.056) and presented more social impairment (p=0.04). Fat tissue interposition had no correlation with the clinical outcome., Conclusions: Thanks to soft tissue definition, multiplanar imaging, and lack of ionizing radiation, MRI is a valuable tool in the postoperative anatomical evaluation of patients with ARM. Our preliminary results show that abnormal anatomical findings can correlate to a nonoptimal functional outcome, thus helping in understanding the clinical course. The degree of anorectal centering in the muscle complex (DARC) seems to have the better correlation with the outcome, especially in terms of fecal continence., Type of Study: Prognosis study., Level of Evidence: level IV., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Purpose: Aim of study was to evaluate the differences in incidence and presentation of anorectal malformations (ARMs) between selected Pediatric Surgery Divisions in the Republic of South Africa (ZAR) and Italy., Methods: A retrospective cohort study involved analysis of clinical records of patients with ARM born between 2005 and 2012. Type of ARM, maternal age, birth weight, gestational age, presence of associated anomalies and delayed diagnosis were analyzed., Results: 335 patients were included in this study. Of note, statistically significant differences between the African and European patient groups were observed in a male predominance in the ZAR patient population. In addition, female recto-perineal fistulas were diagnosed in significantly more Italian patients than in ZAR. Furthermore, a more advanced maternal age and a lower gestational age was noted in the European cohort with a minimal delay in initial diagnosis as opposed to the African counterpart. Both centers reported recto-perineal fistula as the most common malformation in male patients., Conclusion: With the exception of perineal fistulas in females, the incidence of specific subtypes of ARMs was similar in the two groups. This may be of importance when extrapolating European study conclusion to the South African setting.

Background: Pediatric surgeons and patient organisations agree that fewer centers for anorectal malformations with larger patient numbers are essential to reach better treatment. The European Union transacts a political process which aims to realize such centers of expertise for a multitude of rare diseases. All the centers on a specific rare disease should constitute an ERN on that disease. ARM-Net members in different countries report on first experiences with the implementation of national directives, identifying opportunities and risks of this process., Methods: Relevant details from the official European legislation were analyzed. A survey among the pediatric surgeons of the multidisciplinary ARM-Net consortium about national implementation was conducted., Results: European legislation calls for multidisciplinary centers treating children with rare diseases, and proposes a multitude of quality criteria. The member states are called to allocate sufficient funding and to execute robust governance and oversight, applying clear methods for evaluation. Participation of the patient organisations is mandatory. The national implementations all over Europe differ a lot in respect of extent and timeframe., Conclusions: Establishing Centers of Expertise and a ERN for anorectal malformations offers great opportunities for patient care and research. Pediatric surgeons should be actively engaged in this process.

Purpose: Various management strategies for anorectal malformations (ARM) have been proposed. The aim of this study was to assess the current management in centers of excellence in Europe., Methods: An online survey on the pre- and post-operative concepts, surgical techniques, and the management of complications was sent to the representative experts of 28 selected European centers of pediatric surgery with special expertise in the treatment of ARM., Results: The survey was completed by 25 experts from 14 countries. To assess the level of the rectal pouch in newborns 60% of participants perform a prone cross-table X-ray and 52% ultrasound. If an ostomy is required, 84% create divided Peña stomas. Primary repair in the newborn period is performed in females with rectoperineal (92%), rectovestibular (60%), and no fistula (32%), and in males with rectoperineal (92%), rectourinary (17%) and no fistula (38%). For 68 % of surgeons, the PSARP is the preferred surgical approach for "low" malformations. Laparoscopically assisted pull-throughs are routinely performed by 48% of experts for ARM with bladderneck and 28% for rectoprostatic fistula. 88% perform postoperative dilations., Conclusions: The management of ARM in Europe is very heterogeneous. High-quality clinical studies are needed to provide scientific evidence for the optimal treatment strategies.

Background/purpose: The purpose of this study was to investigate the outcome of patients operated for anorectal malformations (ARMs) with good prognosis., Methods: Thirty patients underwent clinical evaluation by Rintala score and anorectal manometry recording anal resting pressure (ARP), rectoanal inhibitory reflex (RAIR), and rectal volume (RV). The results were analysed with regard to sex, type of ARM, surgical timing of posterior sagittal anorectoplasty (PSARP), neurospinal cord dysraphism (ND), neonatal colostomy, and institution where they underwent surgery., Results: 6/30 (20%) presented ND despite normal sacrum. 17/30 (57%) patients had a normal Rintala score. ND and neonatal colostomy were significantly associated with a pathologic score (p=0.0029 and p=0.0016). Patients with ND had significantly lower ARP compared to patients with normal spine (23.5±7.2mmHg vs 32±7.9mmHg, p=0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22±10.24mmHg vs 32.57±6.68mmHg, p=0.026). RAIR was present in only 2/6 (33%) patients with ND, while in 21/24 (87.5%) without ND (p=0.015) and in 4/9 (44%) patients with neonatal colostomy, while in 19/21 (90.5%) patients submitted to primary repair (p=0.014)., Conclusions: Neurospinal cord dysraphism may be present despite normal sacral ratio. From a clinical point of view, patients with good prognosis ARMs are not completely comparable to healthy children. Neurospinal cord dysraphism and neonatal colostomy seem to worsen the clinical and manometric (ARP and RAIR) outcomes of these patients., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Purpose: To suggest a classification, describe the risk factors and management of rectal prolapse after anorectoplasty for anorectal malformations (ARMs)., Methods: We classified prolapse as minimal (rectal mucosa visible with Valsalva manoeuvre), moderate (prolapse <5 mm without Valsalva), evident (>5 mm without Valsalva) and compared patients with and without prolapse within our ARM-population., Results: Among 150 patients, 40 (27 %) developed prolapse: 25 minimal, 6 moderate, 9 evident. Prolapse affected 33 % of males (9 % of perineal fistulas, 38 % of bulbar, 71 % of prostatic, 60 % of bladder neck and 13 % without fistula) and 21 % of females (9 % of perineal, 30 % of vestibular, 50 % of cloacas, and 25 % without fistula). Risk factors for prolapse were: tethered cord (40 vs 24 %), vertebral anomalies (39 vs 24 %), laparoscopic-assisted anorectoplasty (LAARP) (75 vs 25 %), and colostomy at birth (49 vs 9 %). Redo anorectoplasty was not associated with prolapse. Symptoms were present in 11 patients (28 %): in 7 % with minimal, 33 % with moderate and 77 % with evident prolapse. Nine patients (2 moderate, 7 evident) underwent surgical correction., Conclusion: Severe ARMs, tethered cord, vertebral anomalies, colostomy, and LAARP predispose to rectal prolapse. Classifying prolapse allows to predict symptoms and need for surgical correction, and to compare outcomes among different centers.

Background/purpose: Anorectal malformations (ARM) are a spectrum of defects ranging from the very minor ones, with an excellent functional prognosis, to those that are more complex, often associated with other anomalies, difficult to manage and with a poor functional outcome. A significant number of these children suffer from fecal and urinary incontinence despite major advances in the management of ARM patients have significantly improved the quality of life. The role of sacrovertebral anomalies/dysraphism (SD) and neurospinal cord anomalies/dysraphism (ND) associated with ARM on the continence of these patients is still controversial. The authors made a review of their experience in a period of 5 years, focusing on the role of neurospinal cord anomalies in patients with ARM., Materials: At colorectal clinic of our department of pediatric surgery 215 patients who underwent a procedure of posterior sagittal anorectoplasty for ARM are followed-up in a multidisciplinary clinic. Among them 60 patients with either SD or ND were documented. In 37 patients the anomaly involved the spinal cord (ND). 12 of these 37 patients underwent neurosurgical treatment and 25 were managed conservatively. Data collected from their follow-up were analyzed and compared, focusing on their bowel and urinary continence., Results: All 37 patients acquired regular bowel movements with an appropriate bowel management according to Peña's protocols. Urinary incontinence required clean intermittent catheterization in four cases. None of the patients who did not receive neurosurgical treatment developed acute complications due to the progression of the neurospinal anomaly, like acute urinary retention, orthopedic and motility problems or acute hydrocephalus. From literature review we were unable to find good evidence that the presence of ND worsens the functional prognosis of patients with ARM. We were also unable to find convincing evidence to support the practice of prophylactic neurosurgical procedures., Conclusions: The present study supports the theory that for ARM patients the prognosis in terms of continence depends mainly on the type of malformation and is not complicated by the association with ND. In our series neurosurgical treatments did not have any effect in improving the continence of ARM patients and a conservative management of ND did not expose the patients to the sequelae of progressive deterioration, reported elsewhere, requiring rescue neurosurgery. We believe that the correct practice of pediatric surgeons following-up ARM patients is a protocol which includes appropriate investigations to detect the presence of a SD or ND and, once these entities are detected, it is mandatory to manage the patient with a multidisciplinary team, where a conservative non-operative management is initially justified and advocated in the absence of neurosensorymotor symptoms.