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.

Intra-articular venous malformation of the knee in children: magnetic resonance imaging findings and significance of synovial involvement.

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.

Intestinal Microbiota in Hirschsprung Disease.

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.

Bowel Function and Quality of Life After Transanal Endorectal Pull-through for Hirschsprung Disease: Controlled Outcomes up to Adulthood.

OBJECTIVE: 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). SUMMARY OF BACKGROUND DATA: Although TEPT is the surgical standard for HD, controlled long-term follow-up studies evaluating bowel function and QoL are lacking. METHODS: 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, age <18 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. RESULTS: 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 (P < 0.05), except constipation. In cross-section, 75% of patients were socially continent (vs 98% of controls; P < 0.001). 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 (P < 0.05 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 (P < 0.05). CONCLUSION: 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.

Sexual Function, Fertility and Quality of Life after Modern Treatment of Anorectal Malformations.

PURPOSE: Sexual dysfunction and impaired quality of life due to fecal incontinence are common after classic operations for anorectal malformations. We hypothesized that modern repairs may result in improved outcomes. MATERIALS AND METHODS: Following ethical approval for this single institution cross-sectional study, all patients 16 years or older treated for rectourethral, vestibular or perineal fistula from 1983 onward were sent detailed postal questionnaires on sexual function and quality of life. Each respondent was age and gender matched to 3 controls randomly selected from the general population. Penoscrotal/gynecologic abnormalities were obtained from the records. RESULTS: A total of 41 patients (62%) with a median age of 22 years participated in the study. Of the patients 20 were males with rectourethral fistula (prostatic in 60%), 10 were females with vestibular/perineal fistula and 11 were males with low malformations. Although experience of sexual relationships and orgasmic function were reported in comparable proportions to controls, age at coital debut was significantly delayed in all groups of patients (p ≤0.046). Erectile function was preserved after sagittal repair but absent ejaculations or azoospermia affected 3 males with rectourethral fistula (15%). Penoscrotal/gynecologic abnormalities affected 12% of patients. Overall quality of life scores were comparable to controls but a trend was found for lower scores on emotional items in males with rectourethral fistula (p = 0.06) and for a negative effect on sexual life in females (p = 0.03). CONCLUSIONS: While erectile and orgasmic function appear preserved after sagittal repair, further evaluation of fertility issues in males with rectourethral fistula is indicated. Larger multicenter studies are needed to confirm our findings.

Controlled Outcomes for Achievement of Urinary Continence among Boys Treated for Posterior Urethral Valves.

PURPOSE: 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. MATERIALS AND METHODS: 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. RESULTS: 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, p <0.001). 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 p <0.001, respectively). CONCLUSIONS: 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.

Bowel functional outcomes in females with perineal or vestibular fistula treated with anterior sagittal anorectoplasty: controlled results into adulthood.

BACKGROUND: Anterior sagittal anorectoplasty is a standardized operative treatment for females with congenital rectoperineal or vestibular fistula. The controlled, long-term outcomes require characterization. OBJECTIVE: The aim of this study was to define the bowel functional outcomes following anterior sagittal anorectoplasty in relation to age- and sex-matched controls. DESIGN: This cross-sectional study was conducted at a single institution. PATIENTS: 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 accidents <1/week and no requirement for changes of underwear or protective aids. SETTING: This study was conducted at the Hospital for Children and Adolescents, University of Helsinki, Finland. INTERVENTIONS: No interventions were performed. MAIN OUTCOME MEASURES: 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. RESULTS: 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. LIMITATIONS: Number of patients in comparative analysis of symptoms by age group. CONCLUSIONS: 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.

Bowel function and lower urinary tract symptoms in males with low anorectal malformations: an update of controlled, long-term outcomes.

PURPOSE: 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. METHODS: 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. RESULTS: 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 < 0.0001) declined significantly with age. Outcomes by bowel function score were good in 85%, satisfactory in 15% and poor in 0%. Prevalence of LUTS and age at completion of toilet training were comparable to controls (p = NS). CONCLUSIONS: Our results support the adequacy and appropriateness of treating males with low ARMs with individualized, minimally invasive perineal procedures. Long-term functional outcomes comparable to controls are achieved in the majority, provided that constipation is effectively addressed.

Operative Management of Intra-abdominal Lymphatic Malformations in Children: A Single Tertiary Center Experience.

BACKGROUND: Intra-abdominal lymphatic malformations (LMs) are relatively rare congenital anomalies and can be divided into intra- and retroperitoneal subgroups. This study aims to evaluate the outcomes after surgical resection of intraperitoneal LMs in children. METHODS: The records of all patients ≤16 years of age with intraperitoneal LMs managed at our tertiary center between 2007-2022 were reviewed. Patients with retroperitoneal LMs were excluded. Our preferred approach is surgical exploration for large (>5 cm), symptomatic lesions if they are potentially resectable on imaging. RESULTS: A total of 12 patients (10 males) were diagnosed with intraperitoneal LMs located in the small bowel mesentery or omentum at a median age of 6.6 (range, 0.6-14.4) years. Ten (83%) patients presented with acute symptoms, including abdominal pain (n = 8; 67%) and vomiting (n = 3; 25%). Two (17%) intraperitoneal LMs were found on imaging performed for other reasons. Surgical exploration was performed in 11/12 (92%) cases. Intestinal volvulus around a mesenteric macrocyst had occurred in 4 (36%) patients. Complete macroscopic resection was achieved in 10/11 (91%) patients. Most lesions were localized to a short intestinal segment. One mixed type LM with an extensive mesenteric involvement was biopsied as the lesion was deemed to be unresectable in preoperative imaging and the diagnosis was initially unclear. There was one recurrence (8%) during postoperative follow-up on imaging (median 3.6 (range, 1.5-6.9) years) but the patient has remained asymptomatic and not undergone interventions. 6/8 (75%) of screened intraperitoneal LMs were positive for a somatic PIK3CA mutation. CONCLUSIONS: Most large, pedunculated macrocystic LMs in the small bowel mesentery or omental location were amenable to macroscopic resection. Intraperitoneal LMs tend to present with acute symptoms including a risk for intestinal volvulus based on anatomical location. Our results suggest low recurrence rates or need for further interventions over follow-up. LEVEL OF EVIDENCE: III.

Ernica Clinical Consensus Statements on Total Colonic and Intestinal Aganglionosis.

BACKGROUND: Hirschsprung disease is a congenital intestinal motility disorder characterized by an absence of enteric ganglion cells. Total colonic aganglionosis and near total or total intestinal aganglionosis, defined as absence of ganglion cells in the entire colon and with variable length of small bowel involved, are life-threatening conditions which affect less than 10 % of all patients with Hirschsprung disease. The aim of this project was to develop clinical consensus statements within ERNICA, the European Reference Network for rare congenital digestive diseases, on four major topics: Surgical treatment of total colonic aganglionosis, surgical treatment of total intestinal aganglionosis, management of poor bowel function in total colonic and/or intestinal aganglionosis and long-term management in total colonic and or intestinal aganglionosis. METHODS: A multidisciplinary panel of representatives from ERNICA centers was invited to participate. Literature was searched, using specified search terms, in Medline (ALL), Embase and Google Scholar. Abstracts were screened and full text publications were selected. The panel was divided in four groups that extracted data from the full text publications and suggested draft statements for each of the major topics. A modified Delphi process was used to refine and agree on the statements. RESULTS: The consensus statement was conducted by a multidisciplinary panel of 24 participants from 10 European countries, 45 statements reached consensus after 3 Delphi-rounds. The availability of high-quality clinical evidence was limited, and most statements were based on expert opinion. Another 25 statements did not reach consensus. CONCLUSIONS: Total colonic and total intestinal aganglionosis are rare variants of Hirschsprung disease, with very limited availability of high-quality clinical evidence. This consensus statement provides statements on the surgical treatment, management of poor bowel function and long-term management for these rare patients. The expert panel agreed that patients benefit from multidisciplinary and personalized care, preferably in an expert center. TYPE OF STUDY: Clinical consensus statement. LEVEL OF EVIDENCE: 3a.

Hirschsprung disease.

Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia. Multiple putative genes are involved in familial and isolated HSCR, of which the most common are the RET proto-oncogene and EDNRB. Diagnosis consists of visualization of a transition zone on contrast enema and confirmation via rectal biopsy. HSCR is typically managed by surgical removal of the aganglionic bowel and reconstruction of the intestinal tract by connecting the normally innervated bowel down to the anus while preserving normal sphincter function. Several procedures, namely Swenson, Soave and Duhamel procedures, can be undertaken and may include a laparoscopically assisted approach. Short-term and long-term comorbidities include persistent obstructive symptoms, enterocolitis and soiling. Continued research and innovation to better understand disease mechanisms holds promise for developing novel techniques for diagnosis and therapy, and improving outcomes in patients.

The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations.

To elaborate expert consensus patient pathways to guide patients and physicians toward efficient diagnostics and management of patients with venous malformations. Methods: VASCERN-VASCA (https://vascern.eu/) is a European network of multidisciplinary centers for Vascular Anomalies. The Nominal Group Technique was used to establish the pathways. Two facilitators were identified: one to propose initial discussion points and draw the pathways, and another to chair the discussion. A dermatologist (AD) was chosen as first facilitator due to her specific clinical and research experience. The draft was subsequently discussed within VASCERN-VASCA monthly virtual meetings and annual face-to-face meetings. Results: The Pathway starts from the clinical suspicion of a venous type malformation (VM) and lists the clinical characteristics to look for to support this suspicion. Strategies for subsequent imaging and histopathology are suggested. These aim to inform on the diagnosis and to separate the patients into 4 subtypes: (1) sporadic single VMs or (2) multifocal, (3) familial, multifocal, and (4) combined and/or syndromic VMs. The management of each type is detailed in subsequent pages of the pathway, which are color coded to identify sections on (1) clinical evaluations, (2) investigations, (3) treatments, and (4) associated genes. Actions relevant to all types are marked in separate boxes, including when imaging is recommended. When definite diagnoses have been reached, the pathway also points toward disease-specific additional investigations and recommendations for follow up. Options for management are discussed for each subtype, including conservative and invasive treatments, as well as novel molecular therapies. Conclusion: The collaborative efforts of VASCERN-VASCA, a network of the 9 Expert Centers, has led to a consensus Diagnostic and Management Pathways for VMs to assist clinicians and patients. It also emphasizes the role of multidisciplinary expert centers in the management of VM patients. This pathway will become available on the VASCERN website (http://vascern.eu/).

Lower urinary tract symptoms from childhood to adulthood: a population based study of 594 Finnish individuals 4 to 26 years old.

PURPOSE: We evaluated voiding habits and lower urinary tract symptoms by age and gender in a large population of individuals from childhood to adulthood. MATERIALS AND METHODS: 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. RESULTS: The prevalence of urge incontinence significantly decreased with age (45% in respondents 4 to 7 years vs 10% in respondents 13 to 17 years, p <0.05). 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 (p <0.05). 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 (p <0.05). 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. CONCLUSIONS: 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.

Evaluation of bowel function and fecal continence in 594 Finnish individuals aged 4 to 26 years.

BACKGROUND: 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. OBJECTIVE: The aim of this study was to define bowel function and fecal continence in a large sample of individuals aged 4 to 26 years. DESIGN: This investigation is a cross-sectional cohort study. SETTINGS: 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. MAIN OUTCOME MEASURES: The primary outcomes measured were bowel function score, fecal continence, stooling frequency, constipation, and social problems in relation to bowel function. RESULTS: 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%). CONCLUSIONS: 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.

Long-term outcomes of lymphatic malformations in children: An 11-year experience from a tertiary referral center.

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 <2 years. The median follow-up was 5 (0.3-16) years from diagnosis. LMs were located in the head and neck (40%), extremities (27%), trunk (23%), mediastinum (4%), or intra-abdominally (6%). Types were macrocystic in 47%, microcystic in 21% and mixed in 32%. Sclerotherapy was the most common intervention (38%). Primary surgery had been performed in 12%. Symptomatic improvement, reduction in size, or complete regression were observed in 82/102 (80%) of LMs after interventions; complications from treatment were uncommon (Clavien-Dindo grade I-II: 6%; grade III-IIId: 1%). Sixty-two patients (38%; median age 0.5 (range, 0-12) years) had not required interventions to date; spontaneous regression of the LM occurred in 16 (26%) of these expectantly followed-up cases. CONCLUSIONS: Most studies to date have focused on LMs in selected anatomical locations. Herein the outcomes of an entire population from a single tertiary unit of patients are presented, demonstrating the wide heterogeneity of simple (cystic) LMs and highlighting the importance of individualized, multidisciplinary approaches to care in achieving optimal outcomes.

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.

The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations.

Lymphatic malformations (LMs) are developmental defects of lymphatic vessels. LMs are histologically benign lesions, however, due to localization, size, and unexpected swelling, they may cause serious complications that threaten vital functions such as compression of the airways. A large swelling of the face or neck may also be disfiguring and thus constitute a psychological strain for patients and their families. LMs are also highly immunologically reactive, and are prone to recurrent infections and inflammation causing pain as well as chronic oozing wounds. The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) is dedicated to gathering the best expertise in Europe. There are only few available guidelines on management and follow up of LMs, which commonly focus on very specific situations, such as head and neck LM (Zhou et al., 2011). It is still unclear, what constitutes an indication for treatment of LMs and how to follow up the patients. The Vascular Anomalies Working Group (VASCA-WG) of VASCERN decided to develop a diagnostic and management pathway for the management of LMs with a Nominal Group Technique (NGT), a well-established, structured, multistep, facilitated group meeting technique used to generate consensus statements. The pathway was drawn following 2 face-to-face meetings and multiple web meetings to facilitate discussion, and by mail to avoid the influence of most authoritative members. The VASCA-WG has produced this opinion statement reflecting strategies developed by experts and patient representatives on how to approach patients with lymphatic malformations in a practical manner; we present an algorithmic view of the results of our work.

The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas.

The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN), is dedicated to gathering the best expertise in Europe and provide accessible cross-border healthcare to patients with rare vascular diseases. Infantile Hemangiomas (IH) are benign vascular tumors of infancy that rapidly growth in the first weeks of life, followed by stabilization and spontaneous regression. In rare cases the extent, the localization or the number of lesions may cause severe complications that need specific and careful management. Severe IH may be life-threatening due to airway obstruction, liver or cardiac failure or may harbor a risk of functional impairment, severe pain, and/or significant and permanent disfigurement. Rare IHs include syndromic variants associated with extracutaneous abnormalities (PHACE and LUMBAR syndromes), and large segmental hemangiomas. There are publications that focus on evidence-based medicine on propranolol treatment for IH and consensus statements on the management of rare infantile hemangiomas mostly focused on PHACES syndrome. The Vascular Anomalies Working Group (VASCA-WG) decided to develop a diagnostic and management pathway for severe and rare IHs with a Nominal Group Technique (NGT), a well-established, structured, multistep, facilitated group meeting technique used to generate consensus statements. The pathway was drawn following two face-to-face meetings and in multiple web meetings to facilitate discussion, and by mail to avoid the influence of most authoritative members. The VASCA-WG has produced this opinion statement reflecting strategies developed by experts and patient representatives on how to approach patients with severe and rare IH in a practical manner; we present an algorithmic view of the results of our work.

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.

ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease.

BACKGROUND: Hirschsprung's disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding diagnostics and management. AIMS: This guideline aims to cover the diagnostics and management of rectosigmoid HSCR up to adulthood. It aims to describe the preferred approach of ERNICA, the European Reference Network for rare inherited and congenital digestive disorders. METHODS: Recommendations within key topics covering the care pathway for rectosigmoid HSCR were developed by an international workgroup of experts from 8 European countries within ERNICA European Reference Network from the disciplines of surgery, medicine, histopathology, microbiology, genetics, and patient organization representatives. Recommendation statements were based on a comprehensive review of the available literature and expert consensus. AGREE II and GRADE approaches were used during development. Evidence levels and levels of agreement are noted. RESULTS: Thirty-three statements within 9 key areas were generated. Most recommendations were based on expert opinion. CONCLUSION: In rare or low-prevalence diseases such as HSCR, there remains limited availability of high-quality clinical evidence. Consensus-based guidelines for care are presented.