Bowel function, urinary tract function, and health-related quality of life in males with anorectal malformations.

PURPOSE: There is a knowledge gap regarding long-term outcomes for males undergoing surgery for an anorectal malformation (ARM). The purpose of this study was to investigate bowel function, bladder function, and health-related quality of life (HRQoL) in male patients with an anorectal malformation. METHODS: This cross-sectional questionnaire-based study included males treated for ARM at our institution between 1994 and 2017. Bowel function was assessed with bowel function score (BFS) while urinary tract function was assessed with lower urinary tract symptoms (LUTS) questionnaires. Health-related quality of life (HRQoL) was investigated using age-relevant questionnaires (KIDSCREEN and PGWBI). Patient characteristics were retrospectively collected from the medical records and descriptive statistics were used for analysis. Functional outcomes were compared with gender and age-matched controls while HRQoL was compared to normative data. The study was approved by ethics review authorities. RESULTS: A total of 58 (44.6%) of 130 males responded to the questionnaires. Regarding bowel function, 24 (42.1%) of 57 patients and 81 (95.3%) of 85 controls, respectively, reported a well-preserved bowel function represented by a BFS ≥ 17 (p < 0.001). Soiling issues and 'feels urge' items improved significantly with age. In a linear regression model, BFS increased significantly with age. For most parameters, the proportion of ARM patients with lower urinary tract symptoms was larger, though not significantly, compared to the controls. However, straining and stress incontinence were reported significantly more often by ARM patients. In patients and controls, voiding outcomes in terms of prevalence of having symptoms and the number of cumulative symptoms drop with increasing age. Children and adults reported similar or, in some domains, better HRQoL outcomes when compared to normative European data. CONCLUSION: Bowel function is impaired in male patients with ARM but significantly improves with age. Urinary tract function was affected, but overall comparable to the controls. HRQoL was unaffected. No significant association between the studied outcomes could be shown. LEVEL OF EVIDENCE: III.

Hyponatremia at the onset of necrotizing enterocolitis is associated with intestinal surgery and higher mortality.

It has previously been shown that hyponatremia reflects the severity of inflammation in pediatric gastrointestinal diseases. Interpretation of electrolyte disorders is a common, but not well studied challenge in neonatology, especially in the context of early detection of necrotizing enterocolitis and bowel necrosis. The aim of this study was to assess if hyponatremia, or a decrease in plasma sodium level, at the onset of necrotizing enterocolitis (NEC) is associated with intestinal ischemia/necrosis requiring bowel resection and/or NEC-related deaths. This was a retrospective cohort study including patients with verified NEC (Bell's stage ≥ 2) during the period 2009-2014. Data on plasma sodium 1-3 days before and at the onset of NEC were collected. The exposure was hyponatremia, defined as plasma sodium < 135 mmol/L and a decrease in plasma sodium. Primary outcome was severe NEC, defined as need for intestinal resection due to intestinal ischemia/necrosis and/or NEC-related death within 2 weeks of the onset of NEC. Generalized linear models were applied to analyze the primary outcome and presented as odds ratio. A total of 88 patients with verified NEC were included. Fifty-four (60%) of them had severe NEC. Hyponatremia and a decrease in plasma sodium at onset of NEC were associated with increased odds of severe NEC (OR crude 3.91, 95% CI (1.52-10.04) and 1.19, 95% CI (1.07-1.33), respectively). Also, a sub-analysis, excluding infants with pneumoperitoneum during the NEC episode, showed an increased odds ratio for severe NEC in infants with hyponatremia (OR 23.0, 95% CI (2.78-190.08)). CONCLUSIONS: The findings of hyponatremia and/or a sudden decrease in plasma sodium at the onset of NEC are associated with intestinal surgery or death within 2 weeks. WHAT IS KNOWN: • Clinical deterioration, despite optimal medical treatment, is a relative indication for surgery in infants with necrotizing enterocolitis. • Hyponatremia is a common condition in preterm infants from the second week of life. WHAT IS NEW: • Hyponatremia and a decrease in plasma sodium level at the onset of necrotizing enterocolitis are positively associated with need of surgery or death within 2 weeks. • In infants with necrotizing enterocolitis, without pneumoperitoneum, where clinical deterioration despite optimal medical treatment is the only indication for surgery, hyponatremia, or a decrease in plasma sodium level can predict the severity of the disease.

Familial Mediterranean fever may mimic acute appendicitis in children.

Acute appendicitis is the most common surgical emergency in children. Diagnosis and management are often straightforward. However, familial Mediterranean fever is an important condition to consider in the assessment of children with acute abdominal pain, particularly in children with an origin in eastern Mediterranean basin where the disease is common. The key feature of familial Mediterranean fever is relapsing episodes of fever and serositis including peritonitis, pleurisy, or arthritis. The disease is treated with colchicine that prevents acute attacks, control subclinical inflammation between the attacks and the long-term complication of amyloidosis. The acute attacks may be a challenge to identify and distinguish from other causes of acute abdomen, including acute appendicitis, but also small bowel obstruction. Ultrasound and CT scan findings are nonspecific during acute attacks of familial Mediterranean fever, but imaging is useful to identify acute appendicitis and small bowel obstruction. The purpose of this article was to increase the awareness and knowledge of familial Mediterranean fever and provide support for the paediatric surgeon in the clinical care of these children in parts of the world where familial Mediterranean fever is rare.

Non-operative management of acute appendicitis in children.

Appendicitis is one of the most common surgical emergencies in children and adults. Appendectomy as the standard care has been challenged in the recent years with growing evidence about non-operative treatment as a potential primary treatment in patients presenting with signs and symptoms suggestive of acute appendicitis. This review aims to establish where the recent research stands regarding conservative treatment of acute appendicitis, especially in children. There are several studies that report the potential safety and efficacy of treating acute appendicitis non-operatively. Several studies have challenged the concept of acute appendicitis being a progressive disease that always ends in perforation, rather than a disease that can present as different forms with only a defined number of cases progressing to perforation. The lack of randomized controlled studies is a limitation and well-designed randomized controlled trials are needed to determine the role of non-operative management of acute appendicitis in children.

Remote ischemic conditioning in necrotizing enterocolitis: study protocol of a multi-center phase II feasibility randomized controlled trial.

PURPOSE: Remote ischemic conditioning (RIC) is a maneuver involving brief cycles of ischemia reperfusion in an individual's limb. In the early stage of experimental NEC, RIC decreased intestinal injury and prolonged survival by counteracting the derangements in intestinal microcirculation. A single-center phase I study demonstrated that the performance of RIC was safe in neonates with NEC. The aim of this phase II RCT was to evaluate the safety and feasibility of RIC, to identify challenges in recruitment, retainment, and to inform a phase III RCT to evaluate efficacy. METHODS: RIC will be performed by trained research personnel and will consist of four cycles of limb ischemia (4-min via cuff inflation) followed by reperfusion (4-min via cuff deflation), repeated on two consecutive days post randomization. The primary endpoint of this RCT is feasibility and acceptability of recruiting and randomizing neonates within 24 h from NEC diagnosis as well as masking and completing the RIC intervention. RESULTS: We created a novel international consortium for this trial and created a consensus on the diagnostic criteria for NEC and protocol for the trial. The phase II multicenter-masked feasibility RCT will be conducted at 12 centers in Canada, USA, Sweden, The Netherlands, UK, and Spain. The inclusion criteria are: gestational age < 33 weeks, weight ≥ 750 g, NEC receiving medical treatment, and diagnosis established within previous 24 h. Neonates will be randomized to RIC (intervention) or no-RIC (control) and will continue to receive standard management of NEC. We expect to recruit and randomize 40% of eligible patients in the collaborating centers (78 patients; 39/arm) in 30 months. Bayesian methods will be used to combine uninformative prior distributions with the corresponding observed proportions from this trial to determine posterior distributions for parameters of feasibility. CONCLUSIONS: The newly established NEC consortium has generated novel data on NEC diagnosis and defined the feasibility parameters for the introduction of a novel treatment in NEC. This phase II RCT will inform a future phase III RCT to evaluate the efficacy and safety of RIC in early-stage NEC.

Attention deficit hyperactivity and autism spectrum disorders in patients with anorectal malformations.

AIM: To assess the risk of neurodevelopmental disorders in patients with anorectal malformations compared to controls. METHODS: This was a population-based cohort study including all patients born in Sweden 1997-2012 with anorectal malformation in the Swedish National Patient Register and five matched controls per patient. Anorectal malformation was the exposure. All individuals were evaluated for the outcomes, attention deficit hyperactivity disorder or autism spectrum disorder in the National Patient Register. Data on drugs for attention deficit hyperactivity disorder were retrieved from the Swedish Prescribed Drug Register and used as proxy for attention deficit hyperactivity disorder. Conditional logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals (95% CI). Analyses were adjusted for confounders. RESULTS: Five hundred and fifteen patients with anorectal malformations and 2560 controls were included. Patients with anorectal malformation had a higher risk of attention deficit hyperactivity disorder (OR 3.01 (95% CI, 1.83-4.95)) and autism spectrum disorders (OR 3.07 (95% CI, 1.62-5.79)) compared to the controls. Significantly more patients with anorectal malformation had been prescribed medication for attention deficit hyperactivity disorder compared to controls (OR 2.26 (95% CI 1.33-3.85)). CONCLUSION: Patients with anorectal malformations have a higher risk of attention deficit hyperactivity disorder and autism spectrum disorders than controls.

Nonoperative Treatment Versus Appendectomy for Acute Nonperforated Appendicitis in Children: Five-year Follow Up of a Randomized Controlled Pilot Trial.

OBJECTIVE: The aim of this study was to evaluate the safety and feasibility of nonoperative treatment of acute nonperforated appendicitis in children during 5 years of follow-up. METHODS: A 4-year follow-up of a previous randomized controlled pilot trial, including 50 children with acute nonperforated appendicitis, was performed. The patients were initially randomized to nonoperative treatment with antibiotics or appendectomy with 1-year follow-up previously reported. Data were extracted from the computerized notes and telephone interviews.The primary outcome was treatment failure, defined as need for a secondary intervention under general anesthesia, related to the previous diagnosis of acute nonperforated appendicitis. RESULTS: The children were followed up for at least 5 years [median 5.3 (range 5.0-5.6)] after inclusion. There were no failures in the appendectomy group (0/26) and 11 failures in the nonoperative group (11/24). Nine failures had occurred during the first year after inclusion, 2 of whom had histologically confirmed appendicitis. There were 2 further patients with recurrent acute appendicitis 1 to 5 years after inclusion. Both these patients had uncomplicated laparoscopic appendectomies for histologically confirmed acute appendicitis. There were no losses to follow-up. CONCLUSIONS: At 5 years of follow-up 46% of children treated with antibiotics for acute nonperforated appendicitis had undergone an appendectomy, although acute appendicitis was only histologically confirmed in 4/24 (17%). Treatment with antibiotics seems to be safe in the intermediate-term; none of the children previously treated nonoperatively re-presented with complicated appendicitis.

Low Splanchnic Oxygenation and Risk for Necrotizing Enterocolitis in Extremely Preterm Newborns.

OBJECTIVE: The aim of the study was to investigate whether splanchnic oxygenation (SrSO2), measured with near-infrared spectroscopy (NIRS), during the first week of life is associated with the risk of developing necrotizing enterocolitis (NEC) in extremely preterm infants. METHODS: This was a prospective observational cohort study including extremely preterm infants (<28 weeks of gestation) born at Karolinska University Hospital from September 2014 to December 2016. Using 1-hour NIRS monitoring during enteral feeding, mainly continuous enteral feeding, in the first week of life we measured both cerebral and splanchnic oxygenation. Primary outcome was risk of developing NEC (Bell stage ≥ II). Secondary outcome was the association between low mean SrSO2 during the first week of life and postnatal age at full enteral nutrition. RESULTS: We enrolled 52 extremely preterm newborns, but only 45 infants had complete NIRS data. One infant developed NEC within 1 day of NIRS monitoring and was excluded from the study. Median gestational age was 25.6 weeks (range 23.0-27.9) and median birth weight 698 g (range 485-1353). Eight infants developed NEC at the median postnatal age of 15 days (range 6-35). Median postnatal age at full enteral nutrition was 10 days (range 6-23). Infants with mean SrSO2 <30% had a higher risk for developing NEC compared with those with SrSO2 >30% (crude risk ratio 5.25; 95% CI [1.19-23.01]). Small for gestational age, gestational age, birth weight, postnatal age did not affect the results. We found no association between SrSO2 and age at full enteral nutrition. CONCLUSIONS: Low mean SrSO2 (<30%) during the first week of life is associated with an increased risk for developing NEC in extremely preterm infants on mainly continuous enteral nutrition.

Consensus Guidelines for Perioperative Care in Neonatal Intestinal Surgery: Enhanced Recovery After Surgery (ERAS®) Society Recommendations.

BACKGROUND: Enhanced Recovery After Surgery (ERAS®) Society guidelines integrate evidence-based practices into multimodal care pathways that have improved outcomes in multiple adult surgical specialties. There are currently no pediatric ERAS® Society guidelines. We created an ERAS® guideline designed to enhance quality of care in neonatal intestinal resection surgery. METHODS: A multidisciplinary guideline generation group defined the scope, population, and guideline topics. Systematic reviews were supplemented by targeted searching and expert identification to identify 3514 publications that were screened to develop and support recommendations. Final recommendations were determined through consensus and were assessed for evidence quality and recommendation strength. Parental input was attained throughout the process. RESULTS: Final recommendations ranged from communication strategies to antibiotic use. Topics with poor-quality and conflicting evidence were eliminated. Several recommendations were combined. The quality of supporting evidence was variable. Seventeen final recommendations are included in the proposed guideline. DISCUSSION: We have developed a comprehensive, evidence-based ERAS guideline for neonates undergoing intestinal resection surgery. This guideline, and its creation process, provides a foundation for future ERAS guideline development and can ultimately lead to improved perioperative care across a variety of pediatric surgical specialties.

The overall risk of malignancies is not increased in patients with Hirschsprung disease.

PURPOSE: Hirschsprung disease (HSCR) has previously been associated with increased risk of medullary thyroid cancer. The aim of this study was to assess the overall risk of malignancies in patients with Hirschsprung disease in a population-based cohort. METHODS: This was a nationwide, population-based cohort study. The study exposure was HSCR and the study outcome was malignancy. The cohort included all individuals with HSCR registered in the Swedish National Patient Register between 1964 and 2013 and ten age- and sex-matched controls per patient, randomly selected from the Population Register. Data were linked with the Swedish National Cancer Register to identify individuals with malignancy diagnosis. RESULTS: The cohort comprised 739 individuals with HSCR (565 male) and 7390 controls (5650 male). Median age of the cohort was 19 years (range 2-49). In total nine (1.2%) individuals in the exposed cohort were diagnosed with malignancies compared to 57 (0.8%) in the non-exposed cohort (p = 0.195). Median age at malignancy diagnosis was 3 years (range 0-46) in the exposed group, compared to 23 (range 0-42), p = 0.132. No cases with medullary carcinoma of the thyroid were found in this cohort. CONCLUSIONS: There was no significant difference in risk of malignancies in the exposed group compared to the unexposed group.

Nonoperative treatment for nonperforated appendicitis in children: a systematic review and meta-analysis.

Acute appendicitis is the most common surgical emergency in children. Nonoperative treatment of nonperforated acute appendicitis in children is an alternative to appendectomy. The purpose of this systematic review and meta-analysis was to determine the outcomes of nonoperative treatment of nonperforated acute appendicitis in children in the literature. Databases were searched to identify abstracts, using predefined search terms. The abstracts were reviewed by two independent reviewers and articles were selected according to inclusion and exclusion criteria. Data were extracted by the two reviewers and analyzed. The literature search yielded 2743 abstracts. Twenty-one articles were selected for analysis. The study design was heterogenous, with only one randomized controlled study. The symptoms resolved in 92% [95% CI (88; 96)] of the nonoperatively treated patients. Meta-analysis showed that an additional 16% (95% CI 10; 22) of patients underwent appendectomy after discharge from initial hospital stay. Complications and length of hospital stay was not different among patients treated with antibiotics compared with those who underwent appendectomy. Nonoperative treatment of nonperforated acute appendicitis children is safe and efficient. There is a lack of large randomized controlled trials to compare outcomes of nonoperative treatment with appendectomy.

Persistent fecal incontinence into adulthood after repair of anorectal malformations.

PURPOSE: Persistent fecal incontinence beyond childhood is common in ARM patients. The aim of this study was to analyze a consecutive series of adult patients with persistent incontinence, establish the causes, and evaluate whether further treatment could be offered. METHODS: Forty-four adult ARM patients with reported incontinence were invited. Eighteen patients (11 males, median age 40.5 years, range 18-50 years) accepted and underwent clinical examination, rectoscopy, and 3D-ultrasound. Five had previously been treated with secondary surgery to improve continence. RESULTS: Seventeen of the 18 patients had abnormal findings at examination. Eight patients had obstruction of the reconstructed anus. Eleven patients had sacral deformities. Nine patients had a defect in the external anal sphincter and nine patients could not contract the sphincter on demand. Five patients had significant prolapse of mucosa. In one patient, the neoanus was totally misplaced, one patient had a rectovaginal fistula, and one patient had short bowel syndrome due to several small bowel resections. Ten patients were offered conservative and five surgical treatment. CONCLUSIONS: This case series of adults shows that a majority of the patients can be offered further treatment. This indicates a need for structured follow-up of ARM patients into adulthood.

Inflammatory Bowel Disease Serological Immune Markers Anti-Saccharomyces cerevisiae Mannan Antibodies and Outer Membrane Porin C are Potential Biomarkers for Hirschsprung-associated Enterocolitis.

OBJECTIVE: Hirschsprung-associated enterocolitis (HAEC) is the most frequent complication in Hirschsprung disease (HSCR) patients. Currently HAEC is diagnosed clinically, leaving uncertainty in the diagnosis thereby potentially leading to over- or undertreatment of patients. The aim of this study was to identify immune biomarkers to aid in the diagnosis of HAEC. METHODS: From 2012 to 2017, 43 children with HSCR enrolled in a multicenter study, underwent retrospective evaluation of their medical records, and questionnaire-directed parent interviews. HAEC status was determined using HAEC score with cutoff ≥4. Plasma was collected and analyzed by ELISA for the inflammatory bowel disease-associated antibodies: anti-Saccharomyces cerevisiae mannan antibodies (ASCA), outer membrane porin C (OmpC), CBir1, antineutrophil cytoplasmic antibodies. Data were analyzed using t test, univariate, multivariable, and binomial regression models. RESULTS: Eighteen patients had at least 1 episode of HAEC, 25 had no history of HAEC. The HAEC and NO HAEC groups had similar median ages (3 years) and family histories of HSCR. The HAEC group showed markedly elevated ASCA IgA and OmpC antibody levels compared with the NO HAEC group, whereas CBir1 and antineutrophil cytoplasmic antibodies were similar between the groups. Both univariate and multivariable analysis revealed higher OmpC antibody levels associated with HAEC (odds ratio 1.39, confidence interval 1-1.92, P = 0.048), whereas univariate analysis identified a trend toward elevated IgA and immunoglobulin G ASCA levels with HAEC. CONCLUSIONS: We identified elevated OmpC and ASCA serum antibody levels in HAEC patients, and that increased OmpC antibody levels correlated with HAEC occurrence, suggesting HAEC and Crohn disease share gut microbial-host immune responses. These antibodies may serve as potential biomarkers for HAEC, although prospective study with larger sample size is needed.

Swedish national population-based study shows an increased risk of depression among patients with Hirschsprung disease.

AIM: Hirschsprung disease is usually treated during infancy. The long-term impact on mental health has not been well studied. The aim of this study was to assess the risk for depressive disorders in individuals with Hirschsprung disease. METHODS: This was a nationwide, population-based cohort study. The study exposure was Hirschsprung disease and the study outcome was depression. The exposed cohort included all individuals with Hirschsprung disease, registered in the Swedish National Patient Register between 1964 and 2013 and the unexposed cohort included ten age- and sex-matched controls per patient. The diagnosis of depression was confirmed by diagnosis in the Swedish National Patient Register. RESULTS: The cohort included 739 (76.5% males) individuals with Hirschsprung disease and 7390 (76.5% males) controls. Among the patients with Hirschsprung disease, 35 (4.7%) of the patients had had a depressive disorder and 187 (2.5%) of controls, hazard ratio 1.98, 95% confidence interval 1.38-2.84. The mean age at diagnosis of first depression was 21.9 years (SD ± 7) in Hirschsprung disease patients and 23.4 years (SD ± 7), p = 0.236 in the unexposed group. There were no significant gender differences. CONCLUSION: We found an increased risk of having depressive disorders among individuals with Hirschsprung disease compared to controls.

Long-term health-related quality of life in children with lymphatic malformations treated with sclerotherapy generally matched age-appropriate standardised population norms.

AIM: We assessed the long-term health-related quality of life (HRQoL) of children who received sclerotherapy for lymphatic malformations. This treatment involved injecting drugs into the blood vessels to make them shrink. METHODS: Our cross-sectional study retrospectively reviewed patients who received OK-432 sclerotherapy injections at Karolinska University Hospital, Stockholm, Sweden, from 1998 to 2013. We studied 49 patients (63% female) aged 8-18 at least five years after their first injection. HRQoL was assessed with the KIDSCREEN-52 questionnaire and a study-specific questionnaire addressed disease consequences and patient satisfaction. We determined associations between HRQoL and disease and treatment and the patient's sex. RESULTS: Overall HRQoL paralleled age-appropriate norms in the general population, but some subgroups had lower levels. Regression-based estimates showed that larger numbers of injections were negatively associated with HRQoL in the dimensions autonomy, parent relations and home life, financial resources and school environment (p = 0.01-0.03). Malformations in the head and neck area were negative predictors across dimensions and were strongest for psychological well-being (p = 0.009), parent relations and home life (p = 0.017) and school environment (p = 0.006). CONCLUSION: Despite generally positive outcomes, multiple injections and malformations in the head and neck were associated with impaired HRQoL.

Classification of short-term complications after transanal endorectal pullthrough for Hirschsprung's disease using the Clavien-Dindo-grading system.

PURPOSE: Hirschsprung's disease (HSCR) is a developmental defect of the enteric nervous system. Transanal endorectal pullthrough (TERPT) is one of the surgical procedures for HSCR. Clavien-Dindo is an objective classification system, used worldwide, to describe postoperative complications. The aim of this study was to use Clavien-Dindo grading for short-term complication after TERPT. METHODS: This was a cohort study including all 69 individuals, with biopsy-verified HSCR, managed with TERPT at our institution between 2006 and 2018. Data on the surgical procedure, as well as short-term complications, were retrieved from the medical records. The main outcome was postoperative complications graded according to Clavien-Dindo. RESULTS: Fifteen (22%) of the 69 patients (51 males) had a short-term postoperative complication graded according to Clavien-Dindo. The complications were Grade I in ten patients, Grade II in four patients, and Grade IIIb in one patient. Individuals with a Clavien-Dindo complication had a significantly longer post-operative hospital stay [median 6 days (4-30) compared to 4 days (1-22), p = 0.035]. CONCLUSIONS: It is important to describe postoperative complications in a structured way to make it possible to compare studies. Post-operative complications, according to Clavien-Dindo, occurred in 22% of the patients after TERPT.

Intraoperative cultures during appendectomy in children are poor predictors of pathogens and resistance patterns in cultures from postoperative abscesses.

BACKGROUND: Intraoperative cultures are commonly sent in complicated appendicitis. Culture-guided antibiotics used to prevent postoperative infectious complications are debated. In this study, we describe the microbial overlap between intraoperative and abscess cultures, and antibiotic resistance patterns. METHOD: A local register of a children's hospital treating children 0-15 years old with appendicitis between 2006 and 2013 was used to find cases with intraoperative cultures, and cultures from drained or aspirated postoperative intraabdominal abscesses. Culture results, administered antibiotics, their nominal coverage of the identified microorganisms, and rationales given for changes in antibiotic regimens were collected from electronic medical records. RESULTS: In 25 of 35 patients who met inclusion criteria, there was no overlap between the intraoperative and abscess cultures. In 33 of 35 patients, all identified intraoperative organisms were covered with postoperative antibiotics. In 14 patients, organisms in the abscess culture were not covered by administered antibiotics. Enterococci not found in the intraoperative culture were found in 12 of 35 abscesses. We found no difference in the antibiotic coverage between rationales given for antibiotic changes. CONCLUSION: The overlap between intraoperative cultures and cultures from subsequent abscesses was small. Lack of antibiotic coverage of intraoperative cultures was not an important factor in abscess formation.

Quality of life and functional outcome in Swedish children with low anorectal malformations: a follow-up study.

PURPOSE: The aim was to investigate the quality of life and bowel function in children with low anorectal malformations (ARM). ADDITIONAL AIM: To evaluate the Swedish version the Hirschsprung's Disease/Anorectal Malformation Quality of life Questionnaire (HAQL). METHODS: Forty-four children and their parents were invited to complete the HAQL and the Bowel Function Score (BFS). Healthy children participated as controls and completed the HAQL. RESULTS: Seventeen children and 18 mothers completed the HAQL. The children reported impaired function in the physical symptom (PH) fecal continence (FC) and laxative diet (LD) domains compared to controls. Compared with their mothers, they reported impaired physical function and more symptoms in the emotional functioning (EMF) and PH domains. 27 families completed the BFS; 63% reported normal bowel function, 33% moderate outcome and one patient, comprising 4%, poor outcome. Evaluation of the HAQL, FC, EMF and PH domains showed no obvious conflicts. CONCLUSIONS: The children did not differ much regarding their QoL, even though they appeared to have impaired bowel function and worse emotional functioning compared to controls. The mothers underestimated their children's physical symptoms and overestimated their emotional functioning. Evaluated domains in the HAQL appear to work as intended, but the questionnaire needs further development.

Increased Risk of Inflammatory Bowel Disease in a Population-based Cohort Study of Patients With Hirschsprung Disease.

OBJECTIVES: Hirschsprung disease (HSCR) has previously been associated with inflammatory bowel disease (IBD). There are no data to show how common this association is. The aim of the present study was to assess the risk of IBD in individuals with HSCR in a population-based cohort. METHODS: This was a nationwide, population-based cohort study. The study exposure was HSCR and the study outcome was IBD. The cohort included all individuals with HSCR registered in the Swedish National Patient Register between 1964 and 2013 and 10 age- and sex-matched controls per patient, randomly selected from the Swedish Population Register. Individuals with IBD were identified in the Swedish National Patient Register. Data were validated by checking for relevant surgical procedures, and, or prescription of drugs for IBD registered in the Swedish Drug Registry. RESULTS: The cohort comprised 739 individuals with HSCR (565 boys) and 7390 controls (5650 boys). The median age at diagnosis of IBD was not different between the groups; 19 years (5-34) versus 21 years (7-37), P = 0.21. Twenty of the 739 individuals with HSCR and 41 of the 7390 controls had IBD, odds ratio 4.99, and 95% confidence interval 2.85 to 8.45. In the exposed group, 15 individuals had Crohn disease and 5 ulcerative colitis at their latest admission compared to 18 individuals with Crohn disease and 23 with ulcerative colitis in the unexposed group, P = 0.030. CONCLUSION: There is an increased risk of IBD in patients with HSCR, which should be considered in clinical practice.