OBJECTIVE: The understanding of the impact of tethered cord syndrome (TCS) on the physiology of the colorectal area is limited. Our aim was to describe anorectal and colonic motility in children with TCS and compare the findings to those of children with functional constipation (FC).
METHODS: We conducted a retrospective review of children with TCS who had an anorectal manometry (ARM) performed at our institution from January 2011 to September 2023. We recorded demographics, medical and surgical history, clinical symptoms, and treatment at time of ARM, ARM findings (resting pressure, push maneuver, rectal sensation, rectoanal inhibitory reflex [RAIR], and RAIR duration), and the final interpretation of colonic manometry (CM) if performed. We identified age and sex-matched control groups of children with FC.
RESULTS: We included 24 children with TCS (50% female) who had ARM testing (median age at ARM 6.0 years, interquartile range 4.0-11.8 years). All children had constipation at time of ARM. Nineteen children had detethering surgery before ARM was performed. No significant differences in ARM parameters were found between children who had detethering surgery before ARM and children with FC. Among the 24 children, 14 also had a CM performed (13/14 after detethering surgery). No significant differences in colonic motility were found between children with a history of TCS and children with FC.
CONCLUSIONS: Anorectal physiology and colonic motility are similar between children with a history of TCS and children with FC, suggesting that the underlying pathophysiology of defecatory disorders in children with and without history of TCS is similar.

OBJECTIVE: Standardized digital rectal examination (DRE) correlates with anorectal manometry (ARM) measures. However, less is known about the relationship between DRE/ARM measures and patient-reported outcomes (PROs), especially among women with fecal incontinence (FI). Our aims were to evaluate associations between DRE and ARM measures and compare PROs with diagnostic evaluation measures for women with FI.
METHODS: We analyzed data from the parent clinical trial, Controlling Anal incontinence by Performing Anal exercises with Biofeedback or Loperamide (CAPABLe). We pooled data from randomized women who completed standardized ARM, DRE, and validated PROs at baseline and 12 and 24 weeks post-treatment initiation. PROs included FI severity, impact on quality of life, and bowel diary data. We analyzed ARM pressure and volume data and DRE using the Digital Rectal Examination Scoring System (DRESS) resting and squeeze mean scores. We used Spearman Rank Correlation to measure associations between the ARM measures and mean DRESS scores, and between PROs and ARM/DRESS scores.
RESULTS: Among 291 randomized women with ARM and DRE data, the correlation between DRESS and ARM resting measures was 0.196 (p<0.001) and between squeeze measures was 0.247 (p<0.001). At most timepoints, PROs more consistently correlated with squeeze ARM pressures and squeeze DRESS scores than resting measures.
CONCLUSIONS: We found weak correlations between ARM and DRE measures and between those measures and PROs. Although DRE and ARM are commonly used diagnostic measures among women with FI, the weak correlations with patient-reported symptoms raises questions about their utility in clinical care.

UNASSIGNED: Endoscopic submucosal dissection (ESD) is a specific procedure that uses an electrosurgical knife for en-bloc resectioning large tumors. However, no study has examined the effect of ESD on the defecation function of patients with rectal tumors. We aimed to investigate the potential effects caused by ESD by analyzing changes in the morphology and movement of the anorectum pre- and post-ESD.
UNASSIGNED: This prospective observational study included 11 patients with anorectal tumors who underwent ESD between April 2020 and February 2022. Pre-ESD assessments included anorectal manometry and defecography. Post-ESD assessments were conducted 2 months later, including anorectal manometry, defecography, and proctoscopy for ulcer and stenosis evaluation.
UNASSIGNED: The median patient age was 73 years, including seven males and four females. Eight patients (73%) had a tumor in the lower rectum, and the extent of resection was less than 50% of the rectal lumen. Resection reached the dentate line in six cases (55%). In the patients with post-ESD mucosal defects involving the dentate line, the median of functional anal canal length significantly decreased from (3.4 cm pre-ESD to 2.8 cm post-ESD, p = 0.04). Defecography revealed one case with incomplete evacuation (<50%) and incontinence post-ESD. Interestingly, patients with pre-existing rectoceles noted resolution of lesions post-ESD. None of the patients reported daily constipation or fecal incontinence.
UNASSIGNED: While rectal ESD is unlikely to cause significant real-world defecation difficulties, alterations in rectal and anal canal morphology and function may occur if the dentate line is involved in the resection range.

BACKGROUND: Pediatric colorectal specialists care for patients with a variety of defecation disorders. Anorectal (AR) manometry testing is a valuable tool in the diagnosis and management of these children. This paper provides a summary of AR manometry techniques and applications as well as a review of AR manometry findings in pediatric patients with severe defecation disorders referred to a pediatric colorectal center. This is the first study describing multi-year experience using a portable AR manometry device in pediatric patients.
METHODS: An electronic medical record review was performed (1/2018 to 12/2023) of pediatric patients with defecation disorders who had AR manometry testing. Demographics, diagnostic findings, and outcomes are described.
RESULTS: A total of 297 unique patients (56.9% male, n = 169) had AR manometry testing. Of these, 72% (n = 188) had dyssynergic defecation patterns, of which 67.6% (n = 127) had fecal soiling prior to treatment. Pelvic rehabilitation (PR) was administered to 35.4% (n = 105) of all patients. A total of 79.5% (n = 58) of the 73 patients that had fecal soiling at initial presentation and completed PR with physical therapy and a bowel management program were continent after therapy. AR manometry was well tolerated, with no major complications.
CONCLUSIONS: AR manometry is a simple test that can help guide the management of pediatric colorectal surgical patients with defecation disorders. As a secondary finding, PR is a useful treatment for patients with dyssynergic stooling.

OBJECTIVE: For children with intractable functional constipation (FC), there are no evidence-based guidelines for subsequent evaluation and treatment. Our objective was to assess the practice patterns of a large, international cohort of pediatric gastroenterologists.
METHODS: We administered a survey to physicians who attended the 2nd World Congress of Pediatric Neurogastroenterology and Motility held in Columbus, Ohio (USA) in September 2023. The survey included 29 questions on diagnostic testing, nonpharmacological and pharmacological treatment, and surgical options for children with intractable FC.
RESULTS: Ninety physicians from 18 countries completed the survey. For children with intractable FC, anorectal manometry was the most commonly used diagnostic test. North American responders were more likely than Europeans to use stimulant laxatives (97% vs. 77%, p = 0.032), prosecretory medications (69% vs. 8%, p < 0.001), and antegrade continence enemas (ACE; 83% vs. 46%, p = 0.009) for management. Europeans were more likely than North Americans to require colonic transit testing before surgery (85% vs. 30%, p < 0.001). We found major differences in management practices between Americans and the rest of the world, including use of prosecretory drugs (73% vs. 7%, p < 0.001), anal botulinum toxin injections (81% vs. 58%, p = 0.018), ACE (81% vs. 58% p = 0.018), diverting ileostomies (56% vs. 26%, p = 0.006), and colonic resections (42% vs. 16%, p = 0.012). No differences were found when respondents were compared by years of experience.
CONCLUSIONS: Practice patterns in the evaluation and treatment of children with intractable FC differ widely among pediatric gastroenterologists from around the world. A clinical guideline regarding diagnostic testing and surgical decision-making is needed.

BACKGROUND: Patient selection is extremely important in obstructed defecation syndrome (ODS) and rectal prolapse (RP) surgery. This study assessed factors that guided the indications for ODS and RP surgery and their specific role in our decision-making process using a machine learning approach.
METHODS: This is a retrospective analysis of a long-term prospective observational study on female patients reporting symptoms of ODS who underwent a complete diagnostic workup from January 2010 to December 2021 at an academic tertiary referral center. Clinical, defecographic, and other functional tests data were assessed. A supervised machine learning algorithm using a classification tree model was performed and tested.
RESULTS: A total of 400 patients were included. The factors associated with a significantly higher probability of undergoing surgery were follows: as symptoms, perineal splinting, anal or vaginal self-digitations, sensation of external RP, episodes of fecal incontinence and soiling; as physical examination features, evidence of internal and external RP, rectocele, enterocele, or anterior/middle pelvic organs prolapse; as defecographic findings, intra-anal and external RP, rectocele, incomplete rectocele emptying, enterocele, cystocele, and colpo-hysterocele. Surgery was less indicated in patients with dyssynergia, severe anxiety and depression. All these factors were included in a supervised machine learning algorithm. The model showed high accuracy on the test dataset (79%, p < 0.001).
CONCLUSIONS: Symptoms assessment and physical examination proved to be fundamental, but other functional tests should also be considered. By adopting a machine learning model in further ODS and RP centers, indications for surgery could be more easily and reliably identified and shared.

UNASSIGNED: Improvement in oncological survival for rectal cancer increases attention to anorectal dysfunction. Diagnostic questionnaires can evaluate quality of life but are subjective and dependent on patients\' compliance. Anorectal manometry can objectively assess the continence mechanism and identify functional sphincter weakness and rectal compliance. Neoadjuvant chemoradiotherapy is presumed to affect anorectal function. We aim to assess anorectal function in rectal cancer patients who undergo total mesorectal excision, with or without neoadjuvant chemoradiation, using anorectal manometry measurements.
UNASSIGNED: MEDLINE, Embase, and Cochrane databases were searched for studies comparing perioperative anorectal manometry between neoadjuvant chemoradiation and upfront surgery for rectal cancers. Primary outcomes were resting pressure, squeeze pressure, sensory threshold volume and maximal tolerable volume.
UNASSIGNED: Eight studies were included in the systematic review, of which seven were included for metanalysis. 155 patients (45.3%) had neoadjuvant chemoradiation before definitive surgery, and 187 (54.6%) underwent upfront surgery. Most patients were male (238 vs. 118). The standardized mean difference of mean resting pressure, mean and maximum squeeze pressure, maximum resting pressure, sensory threshold volume, and maximal tolerable volume favored the upfront surgery group but without statistical significance.
UNASSIGNED: Currently available evidence on anorectal manometry protocols failed to show any statistically significant differences in functional outcomes between neoadjuvant chemoradiation and upfront surgery. Further large-scale prospective studies with standardized neoadjuvant chemoradiation and anorectal manometry protocols are needed to validate these findings.

BACKGROUND: Whether patients with defecatory disorders (DDs) with favorable response to a footstool have distinctive anorectal pressure characteristics is unknown. We aimed to identify the clinical phenotype and anorectal pressure profile of patients with DDs who benefit from a footstool.
METHODS: This is a retrospective review of patients with high resolution anorectal manometry (HR-ARM) and balloon expulsion test (BET) from a tertiary referral center. BET was repeated with a 7-inch-high footstool in those who failed it after 120 s. Data were compared among groups with respect to BET results.
RESULTS: Of the 667 patients with DDs, a total of 251 (38%) had failed BET. A footstool corrected BET in 41 (16%) of those with failed BET. Gender-specific differences were noted in anorectal pressures, among patients with and without normal BET, revealing gender-based nuances in pathophysiology of DDs. Comparing patients who passed BET with footstool with those who did not, the presence of optimal stool consistency, with reduced instances of loose stools and decreased reliance on laxatives were significant. Additionally, in women who benefited from a footstool, lower anal pressures at rest and simulated defecation were observed. Independent factors associated with a successful BET with a footstool in women included age <50, Bristol 3 or 4 stool consistency, lower anal resting pressure and higher rectoanal pressure gradient.
CONCLUSIONS: Identification of distinctive clinical and anorectal phenotype of patients who benefited from a footstool could provide insight into the factors influencing the efficacy of footstool utilization and allow for an individualized treatment approach in patients with DDs.

UNASSIGNED: Chronic constipation (CC) is a severe symptom in Parkinson\'s disease (PD), with an unclear pathogenesis. Abnormalities of the enteric nervous system (ENS) and/or intestinal epithelial barrier (IEB) may be pathophysiologically relevant in PD patients with CC. We investigated possible molecular changes of the IEB in PD/CCs compared with CCs and controls.
UNASSIGNED: Twelve PD/CCs (2 female, age range 51-80 years), 20 CCs (15 female, age range 27-78 years), and 23 controls (11 female, age range 32-74 years) were enrolled. Ten PD/CCs and 10 CCs were functionally characterized by anorectal manometry (AM) and transit time (TT). Colon biopsies were obtained and assessed for gene and protein expression, and localization of IEB tight junction markers claudin-4 (CLDN4), occludin-1 (OCCL-1), and zonula occludens-1 (ZO-1) by RT-qPCR, immunoblot and immunofluorescence labeling.
UNASSIGNED: PD/CCs were clustered in 2 functional categories: patients with delayed TT and altered AM (60%), and a second group showing only modifications in AM pattern (40%). Gene expression of CLDN4, OCCL-1 and ZO-1 was higher in PD/CCs than controls (P<0.05). Conversely, PD/CCs showed a trend to decrease (P>0.05) in CLDN4 and OCCL-1 protein levels than controls, whereas ZO-1 protein was comparable. In PD/CCs compared with controls, decreasing tendency of vasoactive intestinal polypeptide mRNA, protein and immunoreactive fiber density were observed, although the difference was not statistically significant.
UNASSIGNED: Transit and anorectal dysfunctions in PD/CCs are associated with difference in ZO-1, OCCL-1 and CLDN4 expression, thus supporting the role of an altered IEB as a contributory mechanism to possible neuronal abnormalities.

BACKGROUND: Rectal cancer is commonly treated by chemoradiation therapy, followed by the low anterior resection anal sphincter-preserving surgery, with a temporary protecting ileostomy. After reversal of the stoma a condition known as low anterior resection syndrome (LARS) can occur characterized by a combination of symptoms such as urgent bowel movements, lack of control over bowel movements, and difficulty fully emptying the bowels. These symptoms have a significant negative impact on the quality of life for individuals who have survived the cancer. Currently, there is limited available data regarding the presence, risk factors, and effects of treatment for these symptoms during long-term follow-up.
OBJECTIVE: To evaluate long term outcomes of low anterior resection surgery and its correlation to baseline anorectal manometry (ARM) parameters and physiotherapy with anorectal biofeedback (BF) treatment.
METHODS: One hundred fifteen patients (74 males, age 63 ± 11) who underwent low anterior resection surgery for rectal cancer were included in the study. Following surgery, patients were managed by surgical and oncologic team, with more symptomatic LARS patients referred for further evaluation and treatment by gastroenterologists. At follow up, patients were contacted and offered participation in a long term follow up by answering symptom severity and quality of life (QOL) questionnaires.
RESULTS: 80 (70%) patients agreed to participate in the long term follow up study (median 4 years from stoma reversal, range 1-8). Mean time from surgery to stoma closure was 6 ± 4 months. At long term follow up, mean LARS score was 30 (SD 11), with 55 (69%) patients classified as major LARS (score > 30). Presence of major LARS was associated with longer time from surgery to stoma reversal (6.8 vs. 4.8 months; p = 0.03) and with adjuvant chemotherapy (38% vs. 8%; p = 0.01). Patients initially referred for ARM and BF were more likely to suffer from major LARS at long term follow up (64% vs. 16%, p < 0.001). In the subgroup of patients who underwent perioperative ARM (n = 36), higher maximal squeeze pressure, higher maximal incremental squeeze pressure and higher rectal pressure on push were all associated with better long-term outcomes of QOL parameters (p < 0.05 for all). 21(54%) of patients referred to ARM were treated with BF, but long term outcomes for these patients were not different from those who did not perform BF.
CONCLUSIONS: A significant number of patients continue to experience severe symptoms and a decline in their quality of life even 4 years after undergoing low anterior resection surgery. Prolonged time until stoma reversal and adjuvant chemotherapy emerged as the primary risk factors for a negative prognosis. It is important to note that referring patients for anorectal physiology testing alone tended to predict poorer long-term outcomes, indicating the presence of selection bias. However, certain measurable manometric parameters could potentially aid in identifying patients who are at a higher risk of experiencing unfavorable functional outcomes. There is a critical need to enhance current treatment options for this patient group.