Faecal incontinence: Retentive, non-retentive and when to suspect organic pathology.

BACKGROUND: Faecal incontinence is a highly prevalent and very distressing condition that occurs throughout the entire paediatric age. AIM: To summarise advances in the understanding of the epidemiology, pathophysiology, evaluation and treatment of children with faecal incontinence due to either disorders of gut-brain interaction or organic diseases. METHODS: Literature review on prevalence, impact, diagnosis and treatment options for children with faecal incontinence, interspersed with observations from the author's lifelong career focused on evaluation of children with motility disorders. RESULTS: Faecal incontinence in children is most commonly due to unrecognised or insufficiently treated functional constipation with overflow incontinence. Non-retentive faecal incontinence (NRFI) is probably more common than previously thought and is particularly challenging to treat. Organic diseases such as anorectal malformations (ARMs), Hirschsprung disease and spinal defects are often associated with faecal incontinence; in these conditions, faecal incontinence has a profound impact on quality of life. Recognition of the different pathophysiologic mechanisms causing the incontinence is essential for a successful treatment plan. A thorough physical examination and history is all that is needed in the diagnosis of the causes of faecal incontinence related to disorders of gut-brain interaction. Colonic transit studies or x-rays may help to differentiate retentive from NRFI. Manometry tests are helpful in determining the mechanisms underlying the incontinence in children operated on for ARMs or Hirschsprung diseases. Multiple behavioural, medical and surgical interventions are available to lessen the severity of faecal incontinence and its impact on the daily life of affected individuals. CONCLUSIONS: Recent advances offer hope for children with faecal incontinence.

Clinical characteristics and influence of postoperative Hirschsprung-associated enterocolitis: retrospective study at a tertiary children's hospital.

PURPOSE: To explore the influence of postoperative Hirschsprung-associated enterocolitis (post-HAEC) on long-term outcomes and to identify risk factors of post-HAEC. METHODS: The medical records of 304 eligible patients diagnosed with Hirschsprung's disease (HSCR) were reviewed. We analyzed the clinical characteristics of post-HAEC and its influence on long-term outcomes. Furthermore, risk factors for early and recurrent HAEC were identified separately. RESULTS: The overall incidence of post-HAEC was 29.9% (91/304). We categorized early HAEC as occurring within postoperative 3 months (n = 39) and recurrent HAEC as occurring ≥ 3 episodes within postoperative 6 months (n = 25). Patients with early HAEC were more likely to experience worse nutritional status, defecation function, and quality of life compared to those with late or no episodes (P < 0.05). Similarly, the adverse influences of recurrent HAEC on these outcomes were also significant (P < 0.05). The risk factors for early HAEC included preoperative undernutrition, long-segment HSCR, and postoperative Grade 3-4 complications within 30 days. For recurrent HAEC, risk factors were preoperative malnutrition, non-parental caregivers, long-segment HSCR, and postoperative Grade 3-4 complications within 30 days. CONCLUSION: Classification of post-HAEC based on the first episode time and frequency was necessary. The earlier or more frequent episodes of post-HAEC have detrimental influences on long-term outcomes. Furthermore, risk factors for early and recurrent HAEC were different.

Rates of Hirschsprung-Associated Enterocolitis Decrease With Increasing Child Opportunity Index.

BACKGROUND: Hirschsprung-associated enterocolitis (HAEC) is the most common cause of morbidity and mortality in patients with Hirschsprung disease (HD). There is a correlation between social determinants of health (SDOH) and outcomes in children with HD. The Child Opportunity Index (COI) is a publicly available dataset that stratifies patients by address into levels of opportunity. We aimed to understand if a relationship exists between COI and HAEC. METHODS: A single-institution, IRB-approved, retrospective cohort study was performed of children with HD. Census tract information was used to obtain COI scores, which were stratified into categories (very low, low, medium, high, very high). Subgroups with and without history of HAEC were compared. RESULTS: The cohort had 100 patients, of which 93 had a COI score. There were 27 patients (29.0%) with HAEC. There were no differences in demographics or clinical factors, including length of aganglionic colon, operative approach, and age at pull-through. As child opportunity score increased from very low to very high, there was a statistically significant decrease in the incidence of HAEC (p = 0.04). CONCLUSION: We demonstrate a significant association between increasing opportunity and decreasing incidence of HAEC. This suggests an opportunity for targeted intervention in populations with low opportunity. LEVEL OF EVIDENCE: III. IRB NUMBER: IRB14-00232.

CLINICAL FEATURES OF THE COURSE OF HIRSCHSPRING'S DISEASE INCHILDREN OF THE FIRST YEAR.

The purpose of the work - to investigate the peculiarities of the clinical course of Hirschsprung's disease in children of the first year of life and to determine the significance of symptoms in the verification of the disease. From 1980 to 2021, at the pediatric surgery clinic of the National Medical University named after O.O. Bogomolets on the basis of the National Children's Specialized Hospital "OKHMATDYT" and in the pediatric surgery clinic of the Ivano-Frankivsk National Medical University on the basis of the Ivano-Frankivsk Regional Children's Clinical Hospital, 483 children of the first year of life suffering from Hirschsprung's disease were examined and treated. The clinical manifestation and course of aganglionosis varied in length at the time of hospitalization and depended on the time after birth. During the first month of life, 97 (20.08%) patients were hospitalized, of which 39 (8.07%) hadatypical clinical picture due to: colonic atresia in 15 (3.10%), colonic atresia + gastroschisis in 3 (0.62%), ileal atresia in 9 (1.86%), esophageal atresia in 3 (0 .62%), clefts of the hard and soft palate in 9 (1.86%). Depending on the age, there were 280 (57.97%) patients under 6 months, and 203 (42.03%) patients between 6 months and 1 year. The classic typical clinical picture was in 444 (91.93%) patients, which was characterized by the absence of meconium excretion, abdominal distension in 444 (91.93%), delayed physiological weight gain against the background of nutritional insufficiency with the development of hypotrophy in 327 (67.70%) , vomiting of stagnant gastric and intestinal contents in 417 (86.34%). On the other hand, enterocolitis in 315 (65.22%), toxic megacolon in 16 (3.31%), and anemia of various degrees occurred in 241 (49.89%) patients among the complications that arose during the examination of patients with Hirschsprung's disease. According to the results of a comprehensive examination, the following extent of aganglionosis was established: rectal in 100 (20.70%), rectosigmoid in 192 (39.75%), subtotal in 150 (31.06%) and total in 41 (8.49%) patients. Concomitant malformations were found in 98 (20.29%) patients: renal malformations were diagnosed in 7 (1.45%) patients, concomitant heart malformations in 18 (3.73%) patients. Associated intraoperative findings were Meckel's diverticulum in 5 (1.03%) and congenital cyst of the right ovary in 1 (0.21%) patient. The clinical course was affected by concomitant malformations: incomplete bowel rotation in 10 (2.07%) and internal abdominal hernia in 2 (0.42%). The clinical manifestations and course of Hirschsprung's disease primarily depend on the presence of accompanying developmental defects, which may prevail during the examination due to vital disorders. In the clinical course of Hirschsprung's disease, it is necessary to distinguish between typical and atypical forms. Typical clinical symptoms were in 444 (91.93%), and atypical in 39 (8.07%).

Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage-hair hypoplasia syndrome: A diagnostic and therapeutic challenge.

Cartilage hypoplasia syndrome is a primary immunodeficiency disease characterized by short stature, hypoplastic hair and a variable degree of immunodeficiency. Noninfectious cutaneous granulomas represent an uncommon yet well-recognized manifestation within the spectrum of primary immunodeficiency diseases. However, cutaneous granulomas as a manifestation of cartilage-hair hypoplasia syndrome, are extremely rare. We present a case of a middle-aged man with cartilage hypoplasia syndrome featuring cutaneous granulomas, manifesting as chronic, extensive and deep cutaneous ulcers. The patient was treated with anti-TNF-alpha adalimumab with partial improvement. Our case underscores the broad spectrum of clinical manifestations associated with cartilage hypoplasia syndrome and adds new evidence to the potential therapeutic efficacy of anti-TNF-alpha drugs in its treatment.

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.

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.

Outcome of Transanal Endorectal Pull-Through in Patients with Hirschsprung's Disease.

BACKGROUND: Transanal endorectal pull-through (TERPT) has become one of the preferred treatments for Hirschsprung's disease (HD) in our setting. This report aims to evaluate the current outcome of TERPT in the setting. MATERIALS AND METHODS: A retrospective review of 71 children who had TERPT for histologically-confirmed HD in 11 years (2006-2017) in Nigeria. RESULTS: There were 48 boys and 23 girls; aged 3 days-12 years at initial presentation (median = 10 months). Three (4.2%) patients had associated anomalies (duodenal atresia; anorectal malformation and sensorineural deafness with hypopigmented skin patches each). Age at TERPT was 2 months to 15 years (median = 3 years), with surgery waiting time of 1 month-14.9 years (median = 18 months). Sixty-six (93.0%) patients had rectosigmoid, four (5.6%) patients had long segment and one (1.4%) had total colonic disease. Five (7.0%) patients with large megacolon and one (1.4%) with the total colonic disease had assisted abdominal resection of the colon at TERPT. Seventeen (23.9%) patients had post-operative complications, including post-operative enterocolitis 8 (11.3%); anastomotic dehiscence 3 (4.2%); retained aganglionic segment 2 (2.8%); anastomotic stenosis 2 (2.8%), resulting in prolonged hospital stay (P = 0.0001; range = 1-30 days; median = 5 days). The mortality rate was 4.2% (3) from malignant hyperthermia in one patient and in 2 patients, the cause of mortality was unclear. Patients were followed up for 3-6 years (median = 3.5 years). Bowel movement stabilised to 2-4 times daily by 6 weeks after surgery. CONCLUSION: TERPT is a safe treatment for HD in this setting with good short-term outcomes. Longer follow-up is necessary to further evaluate the long-term bowel movement outcomes.!

The Effect of the Ganglionic Segment Inflammatory Response to Postoperative Enterocolitis in Hirschsprung Disease.

INTRODUCTION: We examined the relationship between proinflammatory cytokines that occur in the inflammatory reaction in the intestine in Hirschsprung disease (HD) and Hirschsprung-associated enterocolitis (HAEC). METHODS: Thirty cases (M:27, F:3) operated on due to HD. The cases were divided into three groups: group 1 with pre and post operative EC, group 2 with post-operative, and group 3 with pre-operative EC. The intestinal segments were evaluated by immunohistochemistry for interleukin 1 beta (IL-1ß), tumor necrosis factor-alpha (TNF-α), and interleukin 6 (IL-6). RESULTS: IL-1ß staining was significantly higher in the ganglionic zone of groups with enterocolitis compared to the control group (p = 0.012). TNF-α staining in the transitional zone of Group 3 and IL-1ß staining in the ganglionic zone of Group 1 was significantly higher than the control group (p = 0.030, p = 0.020). CONCLUSION: In our study, older age at diagnosis and more than 20% IL-1ß staining in the ganglionic segment were found to be risk factors for HAEC. It is noteworthy that the increase in IL-1ß can be associated with HAEC.

Unilateral progressive anterior iris adhesions in Mowat-Wilson syndrome: a new ocular finding.

Ocular associations in Mowat-Wilson syndrome (MWS) are rare. Those involving the anterior segment are scarce in the literature. We describe a child with genetic confirmation of MWS that presented with acquired onset of unilateral anterior iris adhesions with no known trauma.

Clinical relevance of inflammation on rectal biopsy for Hirschsprung disease: An outcomes analysis.

OBJECTIVES: Inflammation on diagnostic rectal biopsy for children with suspected Hirschsprung disease (HSCR) is reported on pathology, and its significance is unknown. We describe the management and outcomes of a cohort with inflammation on rectal biopsy compared to those without. Specifically, to address the hypothesis that inflammation on diagnostic biopsy is associated with increased complication rates irrespective of intervention type and timing. METHODS: A single institution retrospective review of children with HSCR who underwent biopsy and endorectal pull-through (ERPT) from 2010 to 2020 was performed. The primary outcome was overall complications at 30-days following ERPT. Secondary outcomes included timing and type of operative intervention as well as postoperative enterocolitis diagnosed within 6-months of ERPT. RESULTS: Forty-nine children were identified; inflammation was present on diagnostic biopsy for 17 children. Those with inflammation were more likely to have clinical evidence of enterocolitis at the time of biopsy (p = 0.001) and were more likely to undergo leveling colostomy before ERPT (p = 0.01). Children with inflammation had a higher anastomotic leak rate (p = 0.04). Subgroup analysis of patients with inflammation undergoing primary ERPT versus leveling colostomy demonstrated no significant difference in outcomes following definitive ERPT. CONCLUSIONS: Our study suggests inflammation on diagnostic rectal biopsy for HSCR is associated with increased anastomotic leak rates. While additional prospective studies are indicated, attention to methods of mitigating inflammation and confirming its resolution before definitive pull-through may be of benefit for improving clinical outcomes in patients found with inflammation on diagnostic rectal biopsy.

Duhamel Versus Swenson Pull-Through for Total Colonic Aganglionosis: A Multi-Institutional Study.

BACKGROUND: Total colonic aganglionosis (TCA) is a rare variant of Hirschsprung disease (HD) where the colon and portion of distal ileum lack ganglion cells. Most pediatric use either a straight ileoanal (Swenson or Yancey-Soave) or a short Duhamel pull-through for TCA. There are no large studies comparing these techniques. We aimed to compare short-and medium-term outcomes between these approaches. METHOD: A retrospective review was performed among children with TCA from 2001 to 2019 undergoing a primary Duhamel or Swenson pull-through across three large children's hospitals. Patients undergoing redo and patients with greater than 30 % small bowel aganglionosis were excluded. We gathered data on demographics, operative approach, and outcomes at one, two, and three years. Continuous variables were analyzed with t-tests and categorical variables with Chi square or Fisher's tests. RESULTS: There were 54 patients, with 26 (48 %) undergoing Duhamel and 28 (52 %) undergoing Swenson pull-through. There were no differences in sex, age, medical comorbidities, or operative details, including age at pull-through, laparoscopic vs open, length of involved small bowel, and operative time. Length of stay and post-operative complications were not different. Three years after pull-through, patients undergoing Duhamel had fewer stools per day (1-3 stools 69.6 % vs 14.3 %, p = 0.003) and were less likely to be prescribed fiber supplementation (4.2 % vs 43.8 %, p = 0.003). There were no differences in irrigations, botulinum toxin administration, loperamide, or HD admissions. CONCLUSION: Both Duhamel and straight pull-throughs are safe for treatment of TCA, with acceptable short- and medium-term outcomes. Further studies on patient-reported outcomes are necessary to examine long-term differences. LEVEL OF EVIDENCE: III.

Bridging the Gap: A Systematic Review on Reporting Baseline Characteristics, Process, and Outcome Parameters in Rectosigmoid Hirschsprung's Disease.

The variation in standardized, well-defined parameters in Hirschsprung's disease (HSCR) research hinders overarching comparisons and complicates evaluations of care quality across healthcare settings. This review addresses the significant variability observed in these parameters as reported in recent publications. The goal is to compile a list of commonly described baseline characteristics, process and outcome measures, and to investigate disparities in their utilization and definitions. A systematic review of literature on the primary care process for HSCR was performed according to PRISMA guidelines. Relevant literature published between 2015 and 2021 was obtained by combining the search term "Hirschsprung's disease" with "treatment outcome," "complications," "mortality," "morbidity," and "survival" in Medline, Embase, and the Cochrane Library. We extracted study characteristics, reported process and outcome parameters, and patient and disease characteristics. We extracted 1,026 parameters from 200 publications and categorized these into patient characteristics (n = 226), treatment and care process characteristics (n = 199), and outcomes (n = 601). A total of 116 parameters were reported in more than 5% of publications. The most frequently reported characteristics were sex (88%), age at the time of surgery (66%), postoperative Hirschsprung-associated enterocolitis (64%), type of repair (57%), fecal incontinence (54%), and extent of aganglionosis (51%). This review underscores the pronounced variation in reported parameters within HSCR studies, highlighting the necessity for consistent, well-defined measures and reporting systems to foster improved data interpretability. Moreover, it advocates for the use of these findings in the development of a Core Indicator Set, complementing the recently developed Core Outcome Set. This will facilitate quality assessments across pediatric surgical centers throughout Europe.

Does Length of Extended Resection Beyond Transition Zone Change Clinical Outcome for Hirschsprung Pull-Through?

INTRODUCTION: A proximal resection margin greater than 5 cm from the intra-operative histologically determined transition zone has been deemed necessary to minimize the risk of transition zone pull-through. This extended resection may require the sacrifice of vascular supply and even further bowel resection. The impact of extended proximal resection margin on post-operative complications and functional outcomes is unclear. METHODS: A retrospective chart review of patients who underwent primary pull-through for Hirschsprung disease at a single institution between January 2008 and December 2022 was performed. An adequate proximal margin was defined by a circumferential normally ganglionated ring and absence of hypertrophic nerves. The extended margin was defined as the total length of proximal colon with normal ganglion cells and without hypertrophic nerves. Fecal incontinence severity was assessed with the Pediatric Fecal Incontinence Severity Score (PFISS). RESULTS: Eighty seven patients met criteria for inclusion. Median age at primary pull-through was 17 days (IQR 10-92 days), 55% (n = 48) of patients had an extended proximal margin (EPM) ≤ 5 cm, and 45% (n = 39) had an EPM > 5 cm. An EPM ≤5 cm was not associated with increased rates of Hirschsprung associated enterocolitis (≤5 cm 43%, >5 cm 39%, P = 0.701), diversion post pull-through (≤5 cm 10%, >5 cm 5%, P = 0.367) or reoperation for transition zone pull-through (≤5 cm 3%, >5 cm 0%, P = 0.112). EPM ≤5 cm had more frequent involuntary daytime bowel movements (P = 0.041) and more frequent voluntary bowel movements (P = 0.035). There were no differences in other measures of fecal incontinence severity. CONCLUSIONS: Shorter proximal extended margins beyond the adequate ganglionated margin do not significantly impact post-operative complication rates and have an unclear effect on fecal incontinence. TYPE OF STUDY: Case Control. LEVEL OF EVIDENCE: Level III.