Hirschsprung Disease: The Role of the Clinical Nurse Specialist.

Hirschsprung disease is a life-long condition that can have a significant impact on both children and their families. This article explores the role of the clinical nurse specialist and the support they can provide from initial diagnosis through the patient's surgical journey and right through to transition into adult services. Through the provision of education, training, signposting of social and psychological support, and linking in with community-based services, the clinical nurse specialist can help the child and family to limit that impact of the disease.

Transitional Care in Patients With Hirschsprung Disease: Those Left Behind.

BACKGROUND: The long-term effects of Hirschsprung disease are clinically variable. An improved understanding of challenges patients may face as adults can help inform transitional care management. OBJECTIVE: To explore the outcomes and transitional care experiences in adult patients with Hirschsprung. DESIGN: Cohort study. SETTING: Single center. PATIENTS: All patients treated for Hirschsprung between 1977 and 2001 (aged older than 18 years at the time of survey distribution in July 2018-2019). Eligible patients were sent validated multidomain surveys and qualitative questions regarding their transitional care. MAIN OUTCOME MEASURES: Status of transitional care, bowel function, and quality-of-life assessment. Qualitative analysis of transitional care experience. RESULTS: Of 139 patients, 20 had received transition care (10 had at least 1 visit but had been discharged and 10 were receiving ongoing follow-up). These patients had inferior bowel function and quality-of-life scores at follow-up. Twenty-three patients (17%) had issues with soiling at the time of discharge, and 7 patients received transitional care. Of these 23 patients, 9 (39%) had a normal Bowel Function Score (17 or more), 5 (22%) had a poor score (less than 12), and 1 had since had a stoma formation. Eighteen patients (13%) had active moderate-severe issues related to bowel function, only 5 had been transitioned, and just 2 remained under ongoing care. Importantly, when these patients were discharged from our pediatric center, at a median age of 14 (interquartile range, 12-16) years, 10 of 17 patients had no perceptible bowel issues, suggesting a worsening of function after discharge. LIMITATIONS: The retrospective design and reliance on clinical notes to gather information on discharge status as well as patient recall of events. CONCLUSIONS: There remains a small but significant proportion of Hirschsprung patients for whom bowel function either remains or becomes a major burden. These results support a need to better stratify patients requiring transitional care and ensure a clear route to care if their status changes after discharge. See Video Abstract . ATENCIN DE TRANSICIN EN PACIENTES CON ENFERMEDAD DE HIRSCHSPRUNG, LOS QUE SE QUEDAN ATRS: ANTECEDENTES:Los efectos a largo plazo de la enfermedad de Hirschsprung son clínicamente variables. Una mejor comprensión de los desafíos que los pacientes pueden enfrentar cuando sean adultos puede ayudar a informar la gestión de la atención de transición.OBJETIVO:Explorar los resultados y las experiencias de atención de transición en pacientes adultos con Hirschsprung.DISEÑO:Estudio de cohorte.AJUSTE:Unico centro.PACIENTES:Todos los pacientes tratados por Hirschsprung 1977-2001 (edad >18 años en el momento de la encuesta, Julio de 2018-2019). A los pacientes elegibles se les enviaron encuestas multidominio validadas, así como preguntas cualitativas sobre su atención de transición.PRINCIPALES MEDIDAS DE RESULTADOS:Estado de la atención de transición, función intestinal y evaluación de la calidad de vida. Análisis cualitativo de la experiencia de cuidados transicionales.RESULTADOS:De 139 pacientes, 20 habían recibido atención de transición (10 tuvieron al menos una visita pero habían sido dados de alta y 10 estaban recibiendo seguimiento continuo). Estos pacientes tenían puntuaciones inferiores de función intestinal y calidad de vida en el seguimiento. Veintitrés (17%) pacientes tuvieron problemas para ensuciarse en el momento del alta y 7 recibieron atención de transición. De estos, 9/23 (39%) tenían una puntuación de función intestinal normal (≥17), 5/23 (22%) tenían una puntuación baja (<12) y un paciente había tenido desde entonces una formación de estoma. Dieciocho (13%) pacientes tenían problemas activos de moderados a graves relacionados con la función intestinal, solo cinco habían realizado la transición y solo 2 permanecían bajo atención continua. Es importante destacar que cuando estos pacientes fueron dados de alta de nuestro centro pediátrico, a una edad promedio de 14 [RIQ 12-16] años, 10/17 no tenían problemas intestinales perceptibles, lo que sugiere un empeoramiento de la función después del alta.LIMITACIONES:El diseño retrospectivo y la dependencia de notas clínicas para recopilar información sobre el estado del alta, así como el recuerdo de los eventos por parte del paciente.CONCLUSIÓN:Sigue existiendo una proporción pequeña pero significativa de pacientes con Hirschsprung para quienes la función intestinal permanece o se convierte en una carga importante. Estos resultados respaldan la necesidad de estratificar mejor a los pacientes que requieren atención de transición y garantizar una ruta clara hacia la atención si su estado cambia después del alta. ( Traducción-Dr. Yesenia Rojas-Khalil ).

Short and Medium Term Outcomes of Open and Laparoscopic Assisted Oesophageal Replacement Procedures.

AIM OF THE STUDY: We describe the short- and medium-term outcomes following open and laparoscopic assisted oesophageal replacement surgery in a single tertiary paediatric surgical centre. METHODS: A retrospective review (institutional audit approval no. 3213) on patients who underwent open or laparoscopic-assisted oesophageal replacement (OAR vs. LAR) at our centre between 2002 and 2021 was completed. Data collected (demographics, early complications, stricture formation, need for oesophageal dilatations, and mortality) were analysed using GraphPad Prism v 9.50 and are presented as median (IQR). RESULTS: 71 children (37 male) had oesophageal replacement surgery at a median age of 2.3 years (IQR 4.7 years). 51 were LAR (6 conversions). Replacement conduit was stomach (n = 67), colon (n = 3), or jejunum (n = 1). Most gastric transpositions had a pyloroplasty (46/67) or pyloromyotomy (14/67). Most common pathology was oesophageal atresia (n = 50 including 2 failed transpositions), caustic injury (n = 19 including 3 due to button battery), stricture of unknown cause (n = 1), and megaoesophagus (n = 1). There were 2 (2.8 %) early postoperative deaths at 2 days (major vessel thrombosis), 1 month (systemic sepsis), and one death at 5 years in the community. The rate of postoperative complications were comparable across LAR and OAR including anastomotic leak, pleural effusions, or early strictures. More patients with caustic pathology needed dilatations (60 % vs 30 % in OA, p = 0.05). CONCLUSIONS: Outcomes of open and laparoscopic-assisted oesophageal replacement procedures are comparable in the short and medium term. Anastomotic stricture is higher in those with caustic injury. LEVEL OF EVIDENCE: IV.

Laparoscopic inguinal hernia repair (LIHR): the benefit of the double stitch in the largest single-center experience.

AIM: To review our experience of laparoscopic inguinal hernia repair (LIHR) regarding complication rates, the practice of closing the asymptomatic patent processes vaginalis (PPV), and comparison of complication rates between pre-term (< 37 week gestation) and term infants. METHODS: Retrospective review of LIHR performed between 2009 and 2021. Repair was performed by intracorporal single or double purse string/purse string + Z-stitch using a non-absorbable suture. Data were analyzed using Chi-squared/Mann-Whitney and are quoted as median (range). RESULTS: 1855 inguinal rings were closed in 1195 patients (943 (79%) male). 1378 rings (74%) were symptomatic. 492 (41%) patients were pre-term. Corrected gestational age at surgery was 55 weeks (31 weeks-14.6 years) and weight 5.9 kg (1-65.5). Closure of contralateral PPV was higher in the premature group (210/397 [53%] vs. 265/613 [43%] p = 0.003). There were 23 recurrences in 20 patients, of whom 10 had been born prematurely. The only factor significantly associated with a lower recurrence was use of a second stitch (p = 0.011). CONCLUSION: This is the largest single-center reported series of LIHR. LIHR is safe at any age, the risk of recurrence is low, and can be corrected by re-laparoscopy. Use of a Z-stitch or second purse string is associated with a significantly lower rate of recurrence.

Fetal ascites in cloacal malformations-a red flag.

INTRODUCTION: Cloacal malformation is a rare anomaly that remains a diagnostic challenge prenatally, despite the current advances in ultrasonography and MRI. This condition can in some, present with isolated ascites or with other findings, such as a pelvic cyst or upper urinary tract dilatation. In a minority, the ascites may be progressive, questioning the role of antenatal intervention. METHODS: We report on ten patients that have been identified from our Cloaca database between 2010 and 2022. RESULTS: The presence of ascites was associated with extensive bowel adhesions and matting, leading to a challenging initial laparotomy and peri-operative course. CONCLUSIONS: Antenatal finding of ascites in newborns with cloacal malformations should raise a red flag. The surgeon and anaesthetist should be prepared for the operative difficulties secondary to bowel adhesions and the higher risk of haemodynamic instability at the initial surgery. An experienced team at initial laparotomy in such patients is vital. LEVEL OF EVIDENCE: II.

Long-Term Functional Outcomes and Multidisciplinary Management after Ileorectal Duhamel Pull-Through for Total Colonic Aganglionosis-20-Year Experience in a Tertiary Surgical Center.

INTRODUCTION: Management of patients with total colonic aganglionosis (TCA) is challenging for pediatric surgeons. The purpose of this study was to review our institution's 20-year experience regarding long-term outcomes and multidisciplinary team management of these patients after an ileorectal Duhamel pull-through procedure. MATERIALS AND METHODS: Retrospective review was conducted for all patients diagnosed with TCA in our tertiary institution. Data were collected on demographics, clinical presentation, complications, need for additional surgery, and long-term effects on bowel function. RESULTS: Of a total of 202 patients with Hirschsprung's disease, 13 were diagnosed with TCA (6.4%). Clinical presentation was variable. Eleven presented in neonatal period with distal bowel obstruction and two presented with constipation in early infancy. Ileorectal Duhamel pull-through was performed in all patients. Median follow-up was 13 years. Eleven are toilet trained, of whom five are fully continent. Six continue to have problems with bowel continence or constipation. One developed recurrent episode of Hirschsprung's associated enterocolitis. Two patients had stoma re-established. Patients experiencing difficulties in bowel function are jointly managed by a multidisciplinary team consisting of surgeons, gastroenterologists, pediatric psychologists, and clinical nurse specialists. CONCLUSION: TCA can be associated with significant long-term morbidity. Nearly half of the patients in this series have ongoing problems with bowel continence requiring a permanent stoma in some. Diligent follow-up coupled with inputs of a multidisciplinary team has greatly helped manage these complex patients in our institution.

Partial urogenital mobilization in cloacal malformation: is it a viable option?

INTRODUCTION: Total Urogenital Mobilization (TUM) has been the standard surgical approach for the urogenital complex in Cloacal Malformations (CM) since its inception in 1997. Partial Urogenital Mobilization (PUM) in CM remains an under-utilized or under-reported option. The main anatomical difference between TUM and PUM is the division of the pubo-urethral ligaments. OBJECTIVE: We explored the feasibility of PUM in a select subset of our patients with CM and report early outcomes. STUDY DESIGN: We retrospectively reviewed prospectively collected data of all our CM patients who had primary reconstruction at our centre from 2012 to 2020. We included in our review the patients who underwent PUM. Mullerian abnormalities, spinal cord involvement, common channel length (CC), urethral length (UL), surgical reconstruction, and outcomes including urinary continence, recurrent UTI, ultrasound and preoperative DMSA/MAG3, cystovaginoscopy post-reconstruction, and post-void residuals were noted. RESULTS: Fifty-three patients had primary reconstruction, and of these, eleven had a common channel less than 3 cm. Of the eleven, only one underwent TUM. In the PUM group, two underwent filum untethering (20%). Mullerian duplication was noted in 5 patients (50%). The median CC length = 1.6 cm (range = 1.5cm-2.7 cm), and median UL = 1.5 cm (range = 1.5cm-2.5 cm). Follow-up ranged from 9 to 134months (median = 63months). Post-reconstruction all had a separate urethral and vaginal opening on examination and cysto-vaginoscopy. The continence outcomes are summarized in Fig.1. DISCUSSION: Although TUM is the most common solution for the urogenital complex in CM, a subset would be suitable for PUM, and this option is under-utilized or under-reported in literature. We presume that many who had TUM probably only needed a PUM, and therefore could report better outcomes from a bladder function aspect. It is important to differentiate the two, and outcomes should be appropriately categorized. Our default approach is a PUM in all CM with less than 3 cm common channel. Only the lateral and posterior aspects of the urogenital complex are mobilized and if the urethra did not reach a satisfactory level for easy intermittent catheterization, then we proceed to a TUM dividing the pubo-urethral ligaments. PUM avoids the potential complications related to dividing the pubo-urethral ligament in TUM. It may also avoid the need for CIC which is encountered in patients who undergo TUM. CONCLUSION: PUM is a viable alternative in cloacal malformations with good outcomes in those with a common channel under 3 cm. This of course requires appropriate patient selection and accurate categorization of interventions to understand the true outcomes.

Minimal access surgery for congenital diaphragmatic hernia: surgical tricks to facilitate anchoring the patches to the ribs.

OBJECTIVE: Minimal Access Surgery (MAS) for Congenital Diaphragmatic Hernia (CDH) repair is well described, yet only a minority of surgeons report this as their preferred operative approach. Some surgeons find it particularly difficult to repair the defect using MAS and convert to laparotomy when a patch is required. We present in this study our institutional experience in using an easy and relatively cheap methodology to anchor the patch around the ribs using Endo Close™. This device has an application in MAS for tissue approximation using percutaneous suturing. METHODS AND TECHNIQUE: We retrospectively reviewed our database for patients undergoing MAS repair of CDH between 2009 and 2021. Outcome measures included length of surgery and recurrence rates after patch repair. Endo Close™ was used in all patients who required patch repair. We declare no conflict of interest and to not having received any funding from Medtronic (UK). The technique is as follows: (1) The edges of the diaphragm are delineated by dissection. When primary suture repair of the diaphragmatic hernia was unfeasible without tension, a patch was used. (2) The patch is anchored in place by two corner stitches at the medial and lateral borders. (3) The posterior border of the patch is fixed to the diaphragmatic edge by running or interrupted stitches. (4) For securing the anterior border, a non-absorbable suture is passed through the anterior chest wall and the patch border is taken with intracorporeal instruments. (5) Without making another stab incision, the Endo Close™ is tunnelled subcutaneously through the anterior chest wall. (6) The suture end is pulled through the Endo Close™ and the knot is tied around the rib. This procedure can be performed as many times as required to secure the patch. RESULTS: 58 patients underwent MAS surgery for repair of CDH between 2009 and 2021. 48 (82%) presented with a left defect. 34 (58%) had a patch repair. The length of patch repair surgery for CDH ranged from 100-343 min (median 197). There was only one patient (3%) in the patch repair cohort that had a recurrent hernia, diagnosed 12 months after the initial surgery. CONCLUSIONS: In our experience, MAS repair of CDH is feasible. We adopted a low threshold in using a patch to achieve a tension-free repair. We believe that the Endo Close™ is a cheap and safe method to help securing the patch around the ribs.

Thoracoscopic vs open repair of congenital diaphragmatic hernia after extracorporeal membrane oxygenation: a comparison of intra-operative data.

PURPOSE: ECMO is an escalation treatment for hypoxic respiratory failure in patients with CDH. Open repair has been advocated after ECMO indicating that physiological changes associated to thoracoscopic repair were not well tolerated. METHODS: We have performed a retrospective review of all patients who underwent ECMO prior CDH repair over a 7 year period (2015-2021). Outcome measures were intra-operative Ph, PCO2, PO2 and FiO2 at 30 min, 1 h 30 min, and 2 h 30 min of surgery, operative time and recurrence rate. Data are shown in median (range). RESULTS: Eleven patients required ECMO prior CDH repair. Six of eleven (55%) were done thoracoscopically (Group A) and five of eleven (45%) via laparotomy (Group B). Two of six (33%) patients (Group A) were converted to a laparotomy, one of six (16%) patient developed a recurrence, and there was no recurrence in Group B. Two of five (40%) patients died within the first 60 days of life, whilst there was no death in Group A. Intra-operative values are shown below. CONCLUSION: Whilst this is a preliminary report of a limited number of patients, there is no obvious difference of intra-operative blood gas parameters during surgical repair in patients after ECMO. Thoracoscopic CDH repair may be considered in patients after ECMO.

Standardising the elusive diagnosis of NEC in the premature infant - A practical score.

OBJECTIVE: The perceived risk of necrotising enterocolitis (NEC) can result in overtreatment of the otherwise adapting preterm neonate. We aim to develop an assessment tool to aid the decision making in the management of preterm neonates at risk of NEC. METHOD: An evidence-based assessment tool was designed bringing together clinical, laboratory and radiological signs commonly associated with NEC. A numerical score was awarded for each sign, with those more specific to NEC being graded higher. A multi-centre validation was conducted of the proposed assessment tool over three tertiary neonatal units. RESULTS: A total of 125 patients were included, 53 (42.4 %) with a final diagnosis of NEC and 72 (57.6 %) with an alternative diagnosis. The NEC group had a significantly higher total score compared to the non-NEC group; 15(2-28) vs. 4(1-9) (p ≤ 0.0001). In ROC analysis, using a cut-off of eight, the assessment tool gave a sensitivity of 92.3 % and a specificity of 90.4 % for identifying NEC compared to an alternative diagnosis. CONCLUSION: This comprehensive scoring system encourages a full assessment of the infant before deciding on withholding feeds, starting antibiotics, and transferring to a surgical centre. It is a safe objective measure to support a diagnosis of NEC in the presence of certain clinical signs.

Birth prevalence of anorectal malformations in England and 5-year survival: a national birth cohort study.

OBJECTIVE: To determine the birth prevalence, maternal risk factors and 5-year survival for isolated and complex anorectal malformations. DESIGN: National birth cohort using hospital admission data and death records. SETTING: All National Health Service England hospitals. PATIENTS: Live-born singletons delivered from 2002 through 2018, with evidence in the first year of life of a diagnosis of an anorectal malformation and repair during a hospital admission, or anorectal malformation recorded on the death certificate. Cases were further classified as isolated or complex depending on the presence of additional anomalies. MAIN OUTCOME MEASURES: Birth prevalence of anorectal malformations per 10 000 live births, risk ratios for isolated and complex anorectal malformation by maternal, infant and birth characteristics, and 5-year survival. RESULTS: We identified 3325 infants with anorectal malformations among 9 474 147 live-born singletons; 61.7% (n=2050) of cases were complex. Birth prevalence was 3.5 per 10 000 live births (95% CI 3.4 to 3.6). Complex anorectal malformations were associated with maternal age extremes after accounting for other sociodemographic factors. Compared with maternal ages 25-34 years, the risk of complex anorectal malformations was 31% higher for ≥35 years (95% CI 17 to 48) and 13% higher for ≤24 years (95% CI 0 to 27). Among 2376 anorectal malformation cases (n=1450 complex) born from 2002 through 2014, 5-year survival was lower for complex (86.9%; 95% CI 85.1% to 88.5%) than isolated anorectal malformations (98.2%; 95% CI 97.1% to 98.9%). Preterm infants with complex anorectal malformations had the lowest survival (73.4%; 95% CI 68.1% to 78.0%). CONCLUSIONS: Differences in maternal risk factors for isolated and complex anorectal malformations may reflect different underlying mechanisms for occurrence. Five-year survival is high but lowest for preterm children with complex anorectal malformations.

Maintaining a minimally invasive surgical service during a pandemic.

PURPOSE: The safety of minimally invasive surgery (MIS) was questioned in the COVID-19 pandemic due to concern regarding disease spread. We continued MIS during the pandemic with appropriate protective measures. This study aims to assess the safety of MIS compared to Open Surgery (OS) in this setting. METHODS: Operations performed during 2020 lockdown were compared with operations from the same time-period in 2019 and 2021. Outcomes reviewed included all complications, respiratory complications, length of stay (LOS) and operating surgeon COVID-19 infections (OSI). RESULTS: In 2020, MIS comprised 52% of procedures. 29% of MIS 2020 had complications (2019: 24%, 2021: 15%; p = 0.08) vs 47% in OS 2020 (p = 0.04 vs MIS). 8.5% of MIS 2020 had respiratory complications (2019: 7.7%, 2021: 6.9%; p = 0.9) vs 10.5% in OS 2020 (p = 0.8 vs MIS). Median LOS[IQR] for MIS 2020 was 2.5[6] days vs 5[23] days in OS 2020 (p = 0.06). In 2020, 2 patients (1.2%) were COVID-19 positive (MIS: 1, OS: 1) and there were no OSI. CONCLUSION: Despite extensive use of MIS during the pandemic, there was no associated increase in respiratory or other complications, and no OSI. Our study suggests that, with appropriate protective measures, MIS can be performed safely despite high levels of COVID-19 in the population.

Intussusception and COVID-19 in Infants: Evidence for an Etiopathologic Correlation.

Nonrespiratory conditions related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections have been largely described. Ileocolic intussusception has been reported in association with SARS-CoV-2 infection in 10 children, raising the possibility of an etiopathologic role for the virus, but none of these cases documented tissue pathology that would have supported SARS-CoV-2 intestinal inflammation. We report 2 cases of intussusception in patients with SARS-CoV-2 infection who were treated at different pediatric tertiary centers in Europe and provide evidence of the presence of the virus in mesenteric and intestinal tissues of the patients.

Long-term outcomes following failure of Nissen fundoplication.

PURPOSE: To determine the management and outcomes of patients with gastro-oesophageal reflux (GOR) that requires further intervention following failure of Nissen fundoplication (NF). METHODS: After institutional audit department approval, a retrospective review of paediatric patients who had further intervention following failure of primary NF between January 2006 and December 2015 for GOR at our centre was performed. Data are presented as median (range). RESULTS: Of 820 patients who underwent NF, 190 (23%) received further procedures for GOR management at a median of 21 months of age (6-186); 90/190 (47%) had gastro-jejunal feeding (GJ). Of these, 67 (74%) remained on GJ feeds up to a median of 48 months and 23/90 (26%) had a second NF after GJ feeding. 97/190 (51%) had a redo fundoplication without having had a GJ; thus, 120/190 (63%) of patients having a further procedure went on to have a second NF after a median period of 15 months (1-70 months). Three patients (2%) had early emergency wrap revision 4 days after first fundoplication (we classed this as an 'early complication'). Of the seven patients who failed a 3rd NF, 4 continued GJ feeding, 2 of had oesophagogastric dissociation; 2 had 4th NF of which 1 was successful and 1 patient had gastric pacemaker and is successfully feeding orally. Patients who were finally successfully managed with GJ underwent 2 (2-5) tube changes/year. We found patients who had a previous GJ were more likely to have failure of the redo fundoplication than those who had not to have the GJ (16/24 vs. 30/90, p = 0.005). CONCLUSION: The chance of success decreases with every further attempt at fundoplication. The only factor significantly associated with failure of redo fundoplication was whether the patient previously had a GJ tube. In patients with failed fundoplications, when symptom free on jejunal feedings, further anti-reflux surgical intervention should be avoided. A randomized prospective study is needed for patient selection.

Comparative cohort study of Duhamel and endorectal pull-through for Hirschsprung's disease.

BACKGROUND: There are limited data available to compare outcomes between surgical approaches for Hirschsprung's disease. Duhamel and endorectal pull-through (ERPT) are two of the most common procedures performed worldwide. METHODS: Objective outcomes were compared between contemporary cohorts (aged 4-32 years) after Duhamel or ERPT using case-control methodology. Data were collected using prospectively administered standardized questionnaires on bowel and bladder function and quality of life (Pediatric Quality of Life Inventory, Short form 36 and Gastrointestinal Quality of Life Index). Patients were compared in two age groups (18 years and younger and older than 18 years) and reference made to normative control data. Multivariable analysis explored factors associated with poor outcomes. RESULTS: Cohorts were well matched by demographics, disease characteristics and incidence of postoperative complications (120 patients who underwent Duhamel versus 57 patients who had ERPT). Bowel function scores were similar between groups. Patients who underwent Duhamel demonstrated worse constipation and inferior faecal awareness scores (P < 0.01 for both age groups). Recurrent postoperative enterocolitis was significantly more common after ERPT (34 versus 6 per cent; odds ratio 15.56 (95 per cent c.i. 6.19 to 39.24; P < 0.0001)). On multivariable analysis, poor bowel outcome was the only factor significantly associated with poor urinary outcome (adjusted odds ratio 6.66 (95 per cent c.i. 1.74 to 25.50; P = 0.006)) and was significantly associated with markedly reduced quality of life (QoL) in all instruments used (P < 0.001 for all). There were no associations between QoL measures and pull-through technique. CONCLUSION: Outcomes from Duhamel and ERPT are good in the majority of cases, with comparable bowel function scores. Constipation and impaired faecal awareness were more prevalent after Duhamel, with differences sustained in adulthood. Recurrent enterocolitis was significantly more prevalent after ERPT. Clustering of poor QoL and poor functional outcomes were observed in both cohorts, with seemingly little effect by choice of surgical procedure in terms of QoL.

Outcomes in Hirschsprung's disease with coexisting learning disability.

This study describes functional and health-related quality of life (HRQoL) outcomes in patients with Hirschsprung's disease (HSCR) with associated learning disability or neurodevelopmental delay (LD), completing a core outcome set for HSCR. This was a cross-sectional study from a tertiary pediatric surgery center. Patients treated between 1977 and 2013 were prospectively contacted to complete an outcomes survey. Children under 12 and older patients with LD were assisted to complete these by a proxy. Bowel and urologic function were assessed (Rintala's BFS and modified DanPSS) along with HRQoL (PedsQL/GIQLI/SF-36). Thirty-two patients with LD were compared to 186 patients with normal cognition. Patients with LD had 76% survival over the follow-up period, compared to 99% in the remainder of the cohort. Poor functional outcomes were common in the patients with LD, considerably higher than cognitively normal patients: with weekly issues withholding stool, soiling and fecal accidents in over half of patients surveyed (44-60%), and urinary incontinence in 46%. Use of permanent stoma was significantly higher (22% vs. 4%; p = 0.001). HRQoL was worse in domains of physical functioning in adults and children but not for social or emotional domains in adults. Subgroup analysis of patients with Down syndrome suggested similar functional results but better QoL. Multivariate analysis demonstrated a dramatically higher incidence of poor continence outcomes in patients with LD (adjusted OR 9.6 [4.0-23]).Conclusions: We provide LD-specific outcomes showing inferior function but similar HRQoL to other patients with HSCR, this is much needed in the counselling of families of these children. What is Known: • Hirschsprung's disease is commonly associated with syndromes or other anomalies with resultant cognitive impairments. • The outcomes for these patients specifically have been poorly described in the literature. What is New: • Objective functional and quality of life surveys demonstrate significant differences from patients without cognitive impairment. • Patients with learning disability Patients with associated LD were almost ten times more likely to have an associated poor functional outcome, with very little impact on proxy-reported quality of life.

Long-term surgical and patient-reported outcomes of Hirschsprung Disease.

BACKGROUND: Information is needed regarding the complex relationships between long-term functional outcomes and health-related quality of life (HRQoL) in Hirschsprung's Disease (HSCR). We describe long-term outcomes across multiple domains, completing a core outcome set through to adulthood. METHODS: HSCR patients operated at a single center over a 35-year period (1978-2013) were studied. Patients completed detailed questionnaires on bowel and urologic function, and HRQOL. Patients with learning disability (LD) were excluded. Outcomes were compared to normative data. Data are reported as median [IQR] or mean (SD). RESULTS: 186 patients (median age 28 [18-32] years; 135 males) completed surveys. Bowel function was reduced (BFS 17 [14-19] vs. 19 [19-20], p < 0•0001;η2 = 0•22). Prevalence and severity of fecal soiling and fecal awareness improved with age (p < 0•05 for both). Urinary incontinence was more frequent than controls, most of all in 13-26y females (65% vs. 31%,p = 0•003). In adults, this correlated independently with constipation symptoms (OR 3.18 [1.4-7.5],p = 0.008). HRQoL outcomes strongly correlated with functional outcome: 42% of children demonstrated clinically significant reductions in overall PedsQL score, and poor bowel outcome was strongly associated with impaired QOL (B = 22•7 [12•7-32•7],p < 0•001). In adults, GIQLI scores were more often impacted in patients with extended segment disease. SF-36 scores were reduced relative to population level data in most domains, with large effect sizes noted for females in General Health (g = 1.19) and Social Wellbeing (g = 0.8). CONCLUSION: Functional impairment is common after pull-through, but bowel function improves with age. Clustering of poor functional outcomes across multiple domains identifies a need for early recognition and long-term support for these patients.