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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 longterm 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;eta(2) = 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. (C) 2021 Elsevier Inc. All rights reserved.

Publisher Copyright: © 2022 The Authors Background: Lymphatic malformations (LMs) are benign, congenital lesions that display considerable heterogeneity in terms of size, location and characteristics. This study aims to describe the long-term outcomes of current management strategies for patients with simple (cystic) LMs. Methods: The case records of all patients (age ≤16 years) with simple (cystic) LMs at our tertiary institution between 2008 and 2019 were assessed for clinical features, imaging and details of management, including complications. Results: Of a total of 164 patients (60% male), 66% were diagnosed aged

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 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.

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.

Background Intra-articular venous malformations of the knee are an uncommon cause of unilateral knee pain in children. Timely diagnosis is important because lesions with intrasynovial involvement can lead to joint space hemorrhage and secondary cartilage damage. Objective To describe our tertiary center’s experience of diagnostics and typical magnetic resonance imaging (MRI) findings. Materials and methods A retrospective review of all patients ≤16 years of age managed for intra-articular venous malformations of the knee at our institution between 2002 and 2018. Results Of 14 patients (8 male), the mean age at presentation was 6 years (range: 0–14 years). The most common clinical findings were unilateral knee pain (93%), joint swelling (79%), quadriceps atrophy (50%) and a limited range of motion (29%). Cutaneous manifestations were present in four patients (29%). Contrast-enhanced MRI was available in all cases. After initial MRI, a vascular anomaly etiology had been identified in 11 cases (79%), and correctly reported as a venous malformation in 6 (55%). Three patients received entirely different diagnoses (arthritis, tumor or pigmented villonodular synovitis). Three of seven patients with intrasynovial lesions had established chondropathy at diagnosis. Two patients with lesions of the suprapatellar fat pad had intrasynovial involvement that was not visualised on MRI. Conclusion Although MRI usually permits the diagnosis, clinical awareness of these lesions is important for optimal imaging, accurate interpretation and timely diagnosis. Involvement of the intrasynovial cavity carries a risk of hemarthrosis and progressive chondropathy that may be underestimated by MRI.

OBJECTIVES: The aim of the study was to characterize the microbiota profiles of patients with Hirschsprung disease (HD) and to evaluate this in relation to postoperative bowel function and the incidence of Hirschsprung-associated enterocolitis (HAEC). METHODS: All patients operated on for HD at our center between 1987 and 2011 were invited to answer questionnaires on bowel function and to participate in a clinical follow-up for laboratory investigations, including fecal DNA extraction, fecal calprotectin (FC), and brush border lactase (LCT) genotyping. The microbiota compositions of patients with HD were compared with those of healthy controls aged between 2 and 7 years. RESULTS: The microbiota composition of eligible patients with HD (n = 34; median age 12 [range, 3-25] years) differed from the healthy controls (n = 141), showing decreased overall microbial richness (P < 0.005). Seventy-seven percent had experienced HAEC. Normal maturation of the intestinal flora was not observed, but patients had a significantly increased abundance of Proteobacteria among other taxa (P < 0.005) resulting in a reduced carbohydrate degradation potential, as predicted by the taxonomic composition. Genetic lactase deficiency was present in 17% and did not correlate with bowel symptoms. No patients reported active HAEC at the time of sampling and FC was within the normal range in all samples. CONCLUSIONS: Patients with HD and HAEC had a significantly altered intestinal microbiome compared to healthy individuals, characterized by a lack of richness and pathologic expansions of taxa, particularly Enterobacteria and Bacilli. Further evaluation is needed to identify whether these observations are intrinsic to HD or secondary to the recurrent use of antibiotics during early childhood.

The aim of this study was to define controlled outcomes up to adulthood for bowel function and quality of life (QoL) after transanal endorectal pull-through (TEPT) for Hirschsprung disease (HD).Although TEPT is the surgical standard for HD, controlled long-term follow-up studies evaluating bowel function and QoL are lacking.Patients aged ≥4 years operated for HD with TEPT between 1987 and 2011 answered detailed questionnaires on bowel function and QoL [Pediatric Quality of Life Inventory (PedsQL, age18 yrs) or Gastrointestinal Quality of Life Index (GIQLI) and SF-36]. Patients were compared with 3 age- and gender-matched controls each randomly selected from the general population.Seventy-nine patients (64%) responded (median age 15, range 4-32 years; 86% rectosigmoid aganglionosis). Compared with controls, patients reported impairment of all aspects of fecal control (P0.05), except constipation. In cross-section, 75% of patients were socially continent (vs 98% of controls; P0.001). Soiling, fecal accidents, rectal sensation, and ability to withhold defecation improved with age to levels comparable to controls by adulthood (P = NS), but stooling frequency remained higher in 44% of patients (P0.05 vs controls). PedsQL domains in childhood were equal to controls (P = NS), except for proxy-reports of sadness/depression. Adults exhibited lower emotional scores, limitation of personal, and sexual relationships (P0.05).Compared with matched peers, significant impairment of fecal control prevails after TEPT in HD patients during childhood, but symptoms diminish with age. Although overall QoL appeared comparable to controls, impairment of emotional and sexual domains may prevail in adulthood.

OBJECTIVE The goal of this study was to determine the significance of spinal cord anomalies (SCAs) in patients with anorectal malformations (ARMs) by comparing the outcomes for bowel function, lower urinary tract symptoms (LUTS), and lower-limb neurological abnormalities to these outcomes in patients with similar ARMs and a normal spinal cord. METHODS The spinal cord MRI records of female patients treated for vestibular and perineal fistula (VF/PF) and male patients with rectourethral fistula (RUF) at a single center between 1983 and 2006 were reviewed. Bowel function and LUTS were assessed by questionnaire. Patients with extensive sacral anomalies or meningomyelocele were excluded. RESULTS Of 89 patients (median age 15 years, range 5–29 years), MRI was available in 90% (n = 80; 40 male patients with RUF), and 80% of patients returned the questionnaire (n = 64; 31 male patients with RUF). Spinal cord anomalies were found in 34%, comprising a filum terminale lipoma in 30%, low conus medullaris in 10%, and thoracolumbar syrinx in 6%. Bowel functional outcomes between patients with SCAs (n = 23) and those with a normal spinal cord (n = 41) were not significantly different for soiling (70% vs 63%), fecal accidents (43% vs 34%), and constipation (57% vs 39%; p = not significant for all). The LUTS, including urge (65% vs 54%), urge incontinence (39% vs 24%), stress incontinence (17% vs 22%), and straining (32% vs 29%) were also comparable between groups (p = not significant for all). No patients developed lower-limb neurological abnormalities. CONCLUSIONS The results suggest that the long-term functional outcomes for patients with SCAs who had VF/PF and RUF may not differ significantly from patients with the same type of ARMs and a normal spinal cord. The results favor a conservative approach to their management in the absence of abnormal neurological findings in the lower limbs.

This study aimed to define the controlled outcomes into adulthood for bowel function and lower urinary tract symptoms (LUTS) for males treated for low ARMs with individualized, minimally invasive approaches that preserve the native continence mechanisms as far as possible. This is a single-institution, cross-sectional study. All males treated for low ARMs with cutback anoplasty, incision of anocutaneous membrane or dilatations based on the exact type of each malformation between 1983 and 2006 were invited to answer a detailed questionnaire on bowel function and LUTS. Each patient was matched to three controls representing the normal population. Ethical approval was obtained. Amongst 46 respondents (67 %; median age 12.3 (5–29) years), overall fecal control was comparable to controls (p = NS). All patients had voluntary bowel movements; 98 % of patients and 97 % of controls were socially continent (p = NS); 67 % of patients and 64 % of controls were totally continent (p = NS). Constipation amongst patients (33 vs 3 % in controls; p

Background Anorectal malformations (ARMs) and Hirschsprung's disease (HD) are chronic bowel conditions associated with varying degrees of fecal incontinence. We aimed to discuss the contemporary status of social morbidity associated with ARMs and HD in the long term after contemporary treatments. Materials and Methods The bowel functional outcomes of our recent institutional series up to adulthood were reviewed and compared for ARMs and HD. The Rintala score was used to evaluate bowel function, which includes an assessment of the social effects of the condition. In this study, the social outcomes in our population of patients with ARMs and HD were specifically analyzed in relation to the surveyed functional outcomes, our previously collected data on quality of life (QoL) and the current literature. Results Mild ARMs were associated with a minimal risk of social morbidity consistent with good outcomes. In severe ARMs and HD, social problems were reported steadily among all age groups studied. Impairment of domains of fecal control were present among 53 to 89% of patients with social problems, including frequent symptoms (>1/week) in up to 39%. Involuntary gas leakage contributed to social morbidity in 15 to 27%. Comparison with QoL data suggested that social morbidity experienced during childhood may continue to affect emotional domains of QoL in later life, despite improvements in bowel function by adulthood. Conclusion Patients with severe ARMs and HD are at risk of social restrictions from impairment of bowel function despite contemporary surgical treatments. However, the QoL outcomes in adulthood may be more influenced by self-perceptions of illness formed from childhood than disease-specific factors. Strategies to reduce the psychological morbidity associated with these conditions that includes parental involvement from the outset may improve outcomes.

Aims To compare anorectal manometry (AM) in patients with different types of anorectal malformations (ARMs) in relation to functional outcomes. Methods A single-institution, cross-sectional study. After ethical approval, all patients ≥7years old treated for anterior anus (AA), perineal fistula (PF), vestibular fistula (VF), or rectourethral fistula (RUF) from 1983 onwards were invited to answer the Rintala bowel function score (BFS) questionnaire and to attend anorectal manometry (AM). Patients with mild ARMs (AA females and PF males) had been treated with minimally invasive perineal procedures. Females with VF/PF and males with RUF had undergone internal-sphincter saving sagittal repairs. Results 55 of 132 respondents (42%; median age 12 (7–29) years; 42% male) underwent AM. Patients with mild ARMs displayed good anorectal function after minimally invasive treatments. The median anal resting and squeeze pressures among patients with mild ARMs (60 cm H2O and 116 cm H2O respectively) were significantly higher than among patients with more severe ARMs (50 cm H2O, and 80cm H2O respectively; p≤ 0.002). The rectoanal inhibitory reflex was preserved in 100% of mild ARMs and 83% of patients with more severe malformations after IAS-saving sagittal repair. The functional outcome was poor in 4/5 patients with an absent RAIR (BFS≤11 or antegrade continence enema-dependence). Rectal sensation correlated significantly with the BFS. Conclusions Our findings support the appropriateness of our minimally invasive approaches to the management of mild ARMs, and IAS-saving anatomical repairs for patients with more severe malformations. Level of evidence: III.

Background/purpose: To define the prevalence of lower urinary tract symptoms (LUTS) and outcomes for sexual function after endorectal pull-through (EPT) for Hirschsprung disease (HD) compared to controls. To date, similar controlled studies are lacking. Methods: Patients aged = 4 years (n= 123) operated on forHDat our center between 1987 and 2011were invited to answer questionnaires on LUTS and sexual function (aged = 16 years). Patients with an intellectual disability and patients with a definitive endostomy were excluded. Patients were matched to three controls and also invited to a clinical follow-up for urological investigations including urine flow measurement, renal tract ultrasound, and urinalysis. Results: Altogether, 59 responses concerning LUTS and 24 responses concerning sexual functions were analyzed. No significant differences were demonstrated in the overall prevalence of LUTS between patients (67%) and controls (80%), nor in the prevalence of frequent LUTS (14% vs. 16%; P = NS for both). One patient (2%) had a urethral stricture after laparotomy-assisted EPT. Male patients reported sexual satisfaction and erectile function similar to controls (P N 0.10). Female patients were currently less in stable relationships compared to controls (25% vs. 83%, P= 0.005). Conclusions: Our results support the safety of EPT in patientswith HDwith regard to preservation of the integrity and functioning of the genitourinary tract. (C) 2017 Elsevier Inc. All rights reserved.

We evaluated the age at which boys with a history of posterior urethral valves after no or minimal anticholinergic medication achieve urinary continence and the factors contributing to continence.We reviewed the hospital records of all males treated for posterior urethral valves at a single institution between 1990 and 2008. Continence was considered to have been attained if no weekly wetting episodes occurred. We evaluated the influence of patient characteristics, including reduced kidney function and primary ring type ureteral stoma, on age at which continence was achieved.A total of 76 patients were assessed. Achievement of daytime and nighttime urinary continence was markedly delayed in patients (mean ± SD age 5.5 ± 3.3 years and 5.4 ± 3.0 years, respectively) compared to the reference population (2.3 ± 0.5 and 2.9 ± 1.2, p0.001). Increased serum creatinine levels at age 5 years were associated with later daytime and nighttime continence (mean ± SD 6.0 ± 3.2 and 5.5 ± 2.6 years, respectively, vs 4.1 ± 2.3 and 3.7 ± 1.4 years, respectively, in patients with normal serum creatinine, p ≤0.05). Prenatal or neonatal diagnosis of posterior urethral valves was associated with significantly delayed achievement of daytime continence compared to cases diagnosed later (mean ± SD 5.9 ± 3.6 vs 4.1 ± 1.8 years, p = 0.02). Patients with high nadir serum creatinine and vesicoureteral reflux initially also were at increased risk for urinary tract infections (p = 0.003 and p0.001, respectively).Patients with posterior urethral valves achieve daytime and nighttime urinary continence significantly later than their healthy peers. Prenatal or neonatal diagnosis and high serum creatinine are associated with later attainment of continence.

Anterior sagittal anorectoplasty is a standardized operative treatment for females with congenital rectoperineal or vestibular fistula. The controlled, long-term outcomes require characterization.The aim of this study was to define the bowel functional outcomes following anterior sagittal anorectoplasty in relation to age- and sex-matched controls.This cross-sectional study was conducted at a single institution.All females treated for congenital perineal or vestibular fistula with anterior sagittal anorectoplasty between 1983 and 2006 were invited to answer a detailed, previously validated questionnaire on bowel function. Each patient was matched to 3 controls who had answered identical questionnaires. Ethical approval was obtained. Social continence was defined as soiling or fecal accidents1/week and no requirement for changes of underwear or protective aids.This study was conducted at the Hospital for Children and Adolescents, University of Helsinki, Finland.No interventions were performed.The primary outcomes measured were the prevalence of problems with rectal sensation, voluntary bowel control, soiling, fecal accidents, constipation, and social problems. Bowel function score (out of 20 items) was considered, as well as the age at completion of toilet training for stool.Of 34 respondents (79%; median age, 13 (4-28) years), all had voluntary bowel movements. Problems withholding defecation, soiling, and fecal accidents were significantly more common among patients than controls (p ≤ 0.001). Eighty-five percent of patients and 100% of controls (p = 0.001) were socially continent; 41% of patients and 76% of controls were totally continent (p = 0.0003). Constipation tended to decline with age (from 59% to 25%; p = 0.16). The bowel functional outcome was good in 68% of patients, satisfactory in 26% of patients, and poor in 6% of patients. Diapers for stool had been discontinued at the same median age as controls.Number of patients in comparative analysis of symptoms by age group.After anterior sagittal anorectoplasty for perineal or vestibular fistula, 2 of 3 of patients are likely to achieve bowel control comparable to normal in the long term, and the vast majority will be socially continent. The effective treatment of constipation is essential.

Objective The objective of the study is to define the population-based bowel functional outcomes and enterocolitis following transanal endorectal pull-through (TEPT) in patients with Hirschsprung disease (HD) treated at our institution between 1986 and 2011. Methods 146 consecutive patients who had undergone primary surgical treatment for HD were included. The median follow-up time was 15 (3–33) years. The clinical details and prevalence of enterocolitis were evaluated in all patients, and bowel function in patients > 3 years of age with functional intestino-anal continuity. Results No patients were lost to follow-up. Overall survival was 98%. The level of disease was rectosigmoid in 83%, long segment in 7%, total colonic in 4%, and extending up to the small bowel in 6%. 29% had an associated syndrome. 22% had a preoperative stoma. Operations included TEPT (89%), proctocolectomy with ileoanal anastomosis in 9%, and 3% had a permanent endostomy owing to small intestinal aganglionosis. One patient underwent intestinal transplantation. At the latest follow-up, 42% had occasional soiling, 12% had frequent soiling and 46% had no soiling. Constipation occurred in 9%. An associated syndrome was the only predictor for soiling or constipation (OR 4.3, 95% CI 1.5–12). 44% developed recurrent postoperative enterocolitis, which was predicted by extended aganglionosis (OR 6.9, 95% CI 2.4–20) and syndromatic disease (OR 2.4, 95% CI 1.2–5.0). Conclusion The major functional sequelae following TEPT were recurrent enterocolitis and fecal soiling, which was mostly occasional. An associated syndrome was a predictor of a reduced bowel functional outcome, and alongside extended aganglionosis were significant risk factors for recurrent postoperative enterocolitis.

Limited information exists on what constitutes normal bowel function in children and adolescents. This information is essential for determining outcomes of surgery for anorectal malformations and other colonic disorders.The aim of this study was to define bowel function and fecal continence in a large sample of individuals aged 4 to 26 years.This investigation is a cross-sectional cohort study.Five hundred ninety-four individuals aged 4 to 26 years were randomly selected from the population register of Finland. Participants anonymously answered a previously validated 7-item postal questionnaire on bowel function.The primary outcomes measured were bowel function score, fecal continence, stooling frequency, constipation, and social problems in relation to bowel function.Recognition of the need to defecate was well established by age 4, but the ability to hold back defecation improved with age. Fecal accidents decreased from 11% in preschool children to 2% by 13 to 17 years (p = 0.02). Fecal staining of underwear was common (33%); the prevalence of soiling decreased with age. Stooling frequency was normal in 92%. Constipation was more common in females. Problems restricting social life in relation to bowel function were rare (0.5%).The fine-tuning of fecal continence continues to develop during childhood. Minor soiling is common in healthy individuals. Because of the changes with age, the evaluation of functional outcomes in patients who have undergone surgical treatment of anorectal malformations or other colonic disorders should include comparison with data from age-matched controls.

We evaluated voiding habits and lower urinary tract symptoms by age and gender in a large population of individuals from childhood to adulthood.We studied a cross-sectional sample of 594 individuals 4 to 26 years old randomly selected from the population register of Finland. Participants anonymously answered a detailed postal questionnaire on lower urinary tract symptoms. Parents assisted respondents younger than 16 years. Results were analyzed by age group (4 to 7, 8 to 12, 13 to 17 and 18 to 26 years) and gender. A p value of less than 0.05 was considered statistically significant.The prevalence of urge incontinence significantly decreased with age (45% in respondents 4 to 7 years vs 10% in respondents 13 to 17 years, p0.05). Urinary tract infections and urge and stress incontinence were more common in females (16% to 32%) than in males (2% to 4%) older than 12 years (p0.05). The occurrence of some type of minor daytime urinary incontinence was reported by approximately a fourth of the study population, with a significant decline in prevalence between ages 4 to 7 years and 8 to 12 years (p0.05). Minor urinary incontinence was significantly more common in females older than 12 years. Frequent urinary incontinence affected only 4% of respondents, most of whom were younger than 12 years.Bladder control and urinary function exhibit considerable variation with age and gender. Due to the imperfections in bladder control in the general population, the evaluation of urinary tract disorders and outcomes of surgery in children and adolescents should be conducted with reference to control data according to age and gender.