Genital Malformations in Children With VACTERL - Has Time Come to Include "G" in the Acronym?

BACKGROUND: Genital malformations are frequently diagnosed in patients with VACTERL, but are currently not included in the acronym. This study aimed to analyze the frequency of genital anomalies in patients with esophageal atresia (EA) and/or anorectal malformation (ARM), with a subgroup analysis of children fulfilling the VACTERL criteria. METHOD: This was a cross-sectional retrospective analysis of two prospectively collected registries of patients operated on for ARM and EA between 2012 and 2022 at a specialized national center. Children were screened routinely for malformations according to the VACTERL acronym. RESULTS: A total of 174 children were included in the study. VACTERL was diagnosed in 60 children (34%), while 114 children (66%) were defined as non-VACTERL. Genital malformations were diagnosed in 38% (23/60) of the children with VACTERL, and in 11% (13/114) of the children without VACTERL (p < 0.001). The presence of genital malformations correlated linearly with the number of diagnosed component features (CFs). In boys with VACTERL, the most common genital malformation was undescended testes present in 10/27 (21%) compared to 1/71 (1%) in non-VACTERL boys (p < 0.001). Müllerian duct anomalies were found in 26% of girls with VACTERL vs. 7% in non-VACTERL girls (p < 0.05). CONCLUSION: There was a higher frequency of genital malformations in patients with VACTERL emphasizing the importance of genital assessment for these patients. We propose VACTERL-G as an extension of the current acronym aiming to reduce the risk of long-term morbidity due to delayed diagnosis of reproductive anomalies.

Parental Access to Healthcare following Paediatric Surgery-The Precarious Role of Parents as Providers of Care in the Home.

Access to healthcare can facilitate parents' self-management of their children's care. Healthcare access can be described as consisting of six dimensions: approachability, acceptability, affordability, availability, appropriateness, and aperture. The aim of this study was to analyse these dimensions of healthcare access experienced by parents caring for their children at home following paediatric surgery. The method-directed content analysis, conducted with the six-dimensional framework of access to healthcare as a guide, was used to analyse twenty-two interviews with parents of children treated with paediatric surgery. All six dimensions were represented in the results. Acceptability was the most frequent dimension, followed by appropriateness and approachability. Affordability, availability, and aperture were less represented. Although access to healthcare after paediatric surgery is generally appropriate and approachable, parents may experience insecurity in performing the self-management needed. Complementary forms of information provision, e.g., telemedicine, can be valuable in this regard.

Systematic orientation of fresh rectal suction biopsies improves histopathological diagnostics in hirschsprung's disease - a method description and preliminary report.

BACKGROUND: Optimizing rectal suction biopsy (RSB) diagnostics in Hirschsprung's disease (HD) may shorten diagnostic time and prevent need for repeated biopsies. AIM: To explore whether systematic orientation of fresh RSB specimens increased biopsy quality, diagnostic times, diagnostic efficacy, and histopathologic workload, and to explore these outcome measures for aganglionic specimens. MATERIALS/METHODS: This was an observational case-control study conducted at a national referral center for HD on data collected from the local HD-diagnostic register. From 2019 each fresh RSB was oriented by the collector in a notch in a foam cushion, placed in a separate cassette, and sent in formalin for pathological analysis. Outcome measures of oriented RSB samples collected 2019-2021 were compared to those of non-oriented RSB samples collected 2015-2018. Staining/immunohistochemistry consisted of hematoxylin eosin, S-100 and calretinin. RESULTS: 78 children with 81 RSBs and 242 biopsy analyzes were included. The frequency of high-quality RSB specimens was higher in oriented: 40% (42/106) versus non-oriented 25% (34/136) (p = 0.018), the diagnostic turnaround time was shorter: 2 days (1-5) versus 3 days (2-8) (p = 0.015), and the number of additional sectioning/leveling/re-orientation per biopsy was lower: 7 (3-26) versus 16 (7-72) (p = 0.011). Specifically for aganglionic specimens, the frequency of high-quality biopsies was generally higher in oriented than in non-oriented RSB specimens: 47% (28/59) versus 14% (7/50) (p < 0.001); the diagnostic efficacy was higher 95% (19/20) versus 60% (9/15) (p = 0.027) and the diagnostic turnaround time shorter: 2 days (2-3) versus 3 days (2-8) (p = 0.036). CONCLUSIONS: Systematic orientation of fresh RSB specimens improves HD diagnostics. Improvement was consistent in aganglionic specimens.

Bowel Control, Bladder Function, and Quality of Life in Children with Cloacal Malformations.

INTRODUCTION: Long-term outcomes of cloacal malformations remain unclear. We evaluated postoperative bowel control, bladder function and quality of life in patients under 18 years of age with cloaca. MATERIALS AND METHODS: This was a multi-center cross-sectional observational study accomplished by the Nordic Pediatric Surgery Research Consortium. Patients with a cloacal malformation, 4-17 years of age, were eligible. Data including patient characteristics, surgical procedures, and complications were retrieved from case records. Established questionnaires with normative control values evaluating bowel function, bladder function, and health-related quality of life (HRQoL) were sent to the patients and their caregivers. The study was approved by the participating center's Ethics Review Authorities. RESULTS: Twenty-six (67%) of 39 eligible patients with median age 9.5 (range, 4-17) years responded. Twenty-one (81%) patients had a common channel ≤3 cm. Imaging confirmed sacral anomalies in 11 patients and spinal cord abnormalities in nine. Excluding patients with stoma (n = 5), median bowel function score was 12 [7-19], and 5 patients (20%) reported a bowel function score ≥17, approaching normal bowel control level. Bowel management increased proportion of socially continent school-aged children to 52%. Six (23%) patients had a permanent urinary diversion or used clean intermittent catheterization (CIC), while majority (70%) of the remaining patients were urinary continent. The reported HRQoL was comparable to healthy Swedish children. CONCLUSION: Whilst well-preserved spontaneous bowel control was rare, a majority of patients were dry for urine without any additional procedures. Few patients experienced social problems or negative impact on HRQoL due to bladder or bowel dysfunction. LEVEL OF EVIDENCE: Level IV.

Prevalence of Mental Health Problems, Associated Factors, and Health-Related Quality of Life in Children with Long-Gap Esophageal Atresia in Sweden.

BACKGROUND: Children with long-gap esophageal atresia (LGEA) face a high risk of digestive and respiratory morbidity, but their mental health outcomes have not been investigated. We aimed to identify the prevalence of mental health problems in children with LGEA, associated factors and health-related quality of life (HRQOL). METHODS: Twenty-six children with LGEA aged 3-17 were recruited nationwide in Sweden. One of their parents and adolescents aged 11-17 completed information on the child's mental health (Strength and Difficulties Questionnaire), generic (PedsQL 4.0) and condition-specific HRQOL (EA-QOL). Parents gave information on current child symptomatology. Mental health level was determined using validated norms; abnormal≥90 percentile/borderline≥80 percentile/normal. Elevated levels were considered borderline/abnormal. Data were analyzed using descriptives, correlation and Mann-Whitney-U test. Significance level was p < 0.05. RESULTS: Twelve children with LGEA aged 3-17 (46%) had elevated scores of ≥1 mental health domain in parent-reports, whereas 2 adolescents (15%) in self-reports. In parent-reports, 31% of the children had elevated levels of peer relationship problems, with associated factors being child sex male (p = 0.037), airway infections (p = 0.002) and disturbed night sleep (p = 0.025). Similarly, 31% showed elevated levels of hyperactivity/inattention, and associated factors were male sex (p = 0.005), asthma (p = 0.028) and disturbed night sleep (p = 0.036). Elevated levels of emotional symptoms, seen in 20%, were related to swallowing difficulties (p = 0.038) and vomiting problems (p = 0.045). Mental health problems correlated negatively with many HRQOL domains (p < 0.05). CONCLUSIONS: Children with LGEA risk mental health difficulties according to parent-reports, especially peer relationship problems and hyperactivity/inattention, with main risk factors being male sex, airway problems and sleep disturbances. This should be considered in follow-up care and research, particularly since their mental health problems may impair HRQOL. LEVELS OF EVIDENCE: Prognosis study, LEVEL II.

eHealth literacy and socioeconomic and demographic characteristics of parents of children needing paediatric surgery in Sweden.

AIM: The aim of the study was to describe different eHealth literacy domains among parents of children needing paediatric surgery in Sweden, and the correlation between these eHealth literacy domains and parents' socioeconomic factors and demographic characteristics. DESIGN: Descriptive correlational design. METHOD: Thirty-five Swedish-speaking parents participated as a historical control group within an ongoing Swedish clinical trial developing eHealth solutions for families after hospital care; of these, 30 completed the eHealth Literacy Questionnaire and the socioeconomic and demographic questionnaire. RESULTS: Of the seven eHealth literacy domains assessed, parents' strengths lay in those pertaining to their own digital competence, control and safety, while their weakness concerned their motivation to engage with digital services, and their ability to access eHealth platforms that work. Overall, parents presented adequate eHealth literacy. Of the five socioeconomic and demographic variables assessed (i.e. monthly wages, education levels, age, gender and residency), monthly wages correlated the strongest, and positively, with the seven eHealth literacy domains.

Histopathological dimensions differ between aganglionic and ganglionic bowel wall in children with Hirschsprung's disease.

BACKGROUND: In the validation of new imaging technology for children with Hirschsprung's disease (HSCR), basic anatomical parameters of the bowel wall must be established specifically for this patient group. AIM: To explore differences in histoanatomical layers of bowel wall, comparing ganglionic and aganglionic bowel walls, and to examine if the bowel wall thickness is linked to patient weight. METHODS: This was an observational study of bowel specimens from children weighing 0-10 kg, operated on consecutively during 2018-2020. Ganglionic and aganglionic bowel walls were measured in digitalized microscopy images from 10 sites per trans-sectional specimen and compared regarding the thickness of their histoanatomical layers. RESULTS: Bowel walls were measured in 21 children. Full bowel wall thickness did not differ between aganglionic and ganglionic bowel (2.20 vs 2.04; p = 0.802) while weight at surgery correlated positively with both ganglionic and aganglionic bowel wall thickness (r = 0.688 and 0.849, respectively), and age at surgery with ganglionic bowel wall thickness (r = 0.517). In aganglionic segments, the muscularis externa layer was thicker compared to that in ganglionosis (0.45 vs 0.31 mm, p = 0.012) whereas the muscularis interna was thinner (0.45 vs 0.62 mm, p < 0.001). A diagnostic index was identified whereby a lower ratio of muscularis interna/externa thickness followed by a thinner muscularis interna differed between aganglionic and ganglionic bowel in all specimens. CONCLUSION: Thicknesses of the bowel wall's muscle layers differ between aganglionic and ganglionic bowel walls in children with HSCR. These findings support a diagnostic index that could be validated for transfer to instant diagnostic imaging techniques. LEVEL OF EVIDENCE: Diagnostic: 3.

Access to health care perceived by parents caring for their child at home supported by eHealth-a directed approach introducing aperture.

BACKGROUND: In recent years a variety of eHealth solutions has been introduced to enhance efficiency and to empower patients, leading to a more accessible and equitable health care system. Within pediatric care eHealth has been advocated to reduce emergency and hospital outpatient visits, with many parents preferring eHealth to physical visits following the transition from hospital to home. Still, not many studies have focused on access from the parental perspective. Therefore, the aim of the study was to analyze access to health care as perceived by parents when caring for their child at home, with conventional care supported by eHealth following pediatric surgery or preterm birth. METHODS: Twenty-five parents who went home with their child following hospitalization and received conventional care supported by eHealth (a tablet) were interviewed in this qualitative study. Directed content analysis was used, guided by a framework for dimensions of access previously described as: approachability, acceptability, affordability, appropriateness, and availability. RESULTS: All dimensions of access were present in the material with the dimensions of approachability, appropriateness and acceptability most frequently emphasized. The dimensions highlighted a strong acceptance of eHealth, which was perceived by the parents as beneficial, particularly access to communication with health care personnel familiar to them. The chat function of the tablet was often mentioned as positive. A new dimension was also identified: "aperture." It is defined by the pathways by which communication is transmitted in cyberspace, and these pathways are not easily visualized for parents submitting information, therefore generating concerns. CONCLUSIONS: Parents generally experienced good access to the eHealth-supported health care. Describing access through its dimensions complemented previous descriptions of eHealth in pediatric care and gave new insights. As such, the new dimension of "aperture", the indeterminate opening of pathways of communication reflecting the uncertainty of not comprehending cyberspace, could be further evaluated. The dimensional framework of access is recommended when evaluating eHealth in the future. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT04150120.

Ten years of paediatric robotic surgery: Lessons learned.

BACKGROUND: Costs and a low total number of cases may be obstacles to the successful implementation of a paediatric robotic surgery programme. The aim of this study was to evaluate a decade of paediatric robotic surgery and to reflect upon factors for success and to consider obstacles. MATERIALS AND METHODS: All children operated on with robotic-assisted laparoscopic surgery between 2006 and 2016 were included in a retrospective, single-institutional study in Lund, Sweden. RESULTS: A total of 152 children underwent robotic surgery during the study time with the most frequent procedures being fundoplication (n = 55) and pyeloplasty (n = 53). Procedure times decreased significantly during the study period. Overall, 18 (12%) of the operations were converted to open surgery, and seven (5%) patients required a reoperation. CONCLUSIONS: Despite a low volume of surgery, we have successfully introduced robotic paediatric surgery in our department. Our operative times and conversion rates are continuously decreasing.

Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study.

BACKGROUND: Outcome of patients operated for anorectal malformation (ARM) type rectovestibular fistula (RVF) is generally considered to be good. However, large multi-center studies are scarce, mostly describing pooled outcome of different ARM-types, in adult patients. Therefore, counseling parents concerning the bowel function at early age is challenging. Aim of this study was to evaluate bowel function of RVF-patients at preschool/early childhood age and determine risk factors for poor functional outcome. METHODS: A multi-center cohort study was performed. Patient characteristics, associated anomalies, sacral ratio, surgical procedures, post-reconstructive complications, one-year constipation, and Bowel Function Score (BFS) at 4-7 years of follow-up were registered. Groups with below normal (BFS < 17; subgroups 'poor' ≤ 11, and 'fair' 11 < BFS < 17) and good outcome (BFS ≥ 17) were formed. Univariable analyses were performed to detect risk factors for outcome. RESULTS: The study included 111 RVF-patients. Median BFS was 16 (range 6-20). The 'below normal' group consisted of 61 patients (55.0%). Overall, we reported soiling, fecal accidents, and constipation in 64.9%, 35.1% and 70.3%, respectively. Bowel management was performed in 23.4% of patients. Risk factors for poor outcome were tethered cord and low sacral ratio, while sacral anomalies, low sacral ratio, prior enterostomy, post-reconstructive complications, and one-year constipation were for being on bowel management. CONCLUSIONS: Although median BFS at 4-7 year follow-up is nearly normal, the majority of patients suffers from some degree of soiling and constipation, and almost 25% needs bowel management. Several factors were associated with poor bowel function outcome and bowel management. LEVEL OF EVIDENCE: Level III.

Diagnostic Efficacy of Rectal Suction Biopsy with Regard to Weight in Children Investigated for Hirschsprung's Disease.

BACKGROUND/AIM: Diagnostic efficacy, defined as the percentage of rectal suction biopsy (RSB) specimens sufficient enough to determine the absence of ganglia cells in Hirschsprung's disease (HD) diagnosis, has been reported to be low, requiring repeated biopsies. The aim was to explore whether RSB diagnostic efficacy was influenced by the child's weight and to ascertain whether RSB efficacy differed between aganglionic and ganglionic tissue. MATERIALS AND METHODS: Efficacy analyses were conducted in a national HD-center's register on children 0-15 kg, examined between 2011-2019. First-time RSB diagnostic efficacy was correlated to the children's weight and final HD diagnosis. RESULTS: Among the 84 children who had first-time RSB, the overall diagnostic efficacy was 85% (71/84). The efficacy was higher among children weighing less than the identified cut-off of 9.0 kg (89% in 0-9.0 kg versus 62% in 9.01-15.0 kg, p = 0.026). Among children diagnosed with HD, 96% (26/27) weighed 0-9.0 kg. In this weight group, the diagnostic efficacy was lower in aganglionosis compared to ganglionosis (77%; 20/26 versus 96%; 43/45), p = 0.045). CONCLUSIONS: The RSB diagnostic efficacy was significantly higher in children weighing less than 9.0 kg and was less in aganglionic compared to ganglionic tissue. Therefore, weight can be useful to predict RSB diagnostic efficacy.

Patient-reported physical and psychosocial significance of abdominal scarring in anorectal malformations.

Background Abdominal scarring in patients with anorectal malformations (ARM) is a permanent visible sign of a chronic congenital condition. The study's aims were to assess the physical and psychosocial significance of abdominal scarring in ARM and to propose a scar treatment approach. Methods A patient- and observer reported cross-sectional study of ARM patients with previous colostomies surgically treated 1997-2015 with minimum 4 years' follow-up after stoma closure. A maximum of 3 patient-selected scars per patient were evaluated by a) the Patient and Observer Scar Assessment Scale (POSAS; 11= no symptoms, 110=worst symptoms), b) pictorial scar treatment assessment by a plastic surgeon, c) questionnaire evaluation of the scarring's psychosocial aspects, bowel- and urinary function and quality of life. Descriptive statistics were presented in median (range) and percent (%), and Pearson's r was used to evaluate linear correlations. Ethical approval and written consents were obtained. Results Twenty-seven patients (48% females) aged 12 (5-24) years old were included. Two (1-3) scars were evaluated per patient with a median POSAS score of 44 (15-78). Six patients (22%) reported scar pain, five (19%) scar pruritus and nine (33%) affected behavior, e.g. always wearing full-covered clothing in public places. Higher (worse) POSAS score and increasing age correlated (r = 0.40, p = 0.04). According to the plastic surgeon's assessment, 21 patients (78%) were suitable candidates for surgical scar treatment, among whom eight patients (30%) requested scar treatment. Conclusions Postoperative abdominal scarring should require attention in clinical ARM follow-up programs including potential corrective plastic surgery for selected patients.

Urological Impact of Epididymo-orchitis in Patients with Anorectal Malformation: An ARM-Net Consortium Study.

INTRODUCTION: To investigate the current experience of the ARM-Net Consortium in the management of epididymo-orchitis (EO) in patients with anorectal malformations (ARMs), and to identify specific risk factors and the need for urological care involvement. MATERIALS AND METHODS: We retrospectively collected data of EO in patients with ARM between 2015 and 2019. Data on urological aspects, ARM type, surgical approach, associated anomalies, diagnosis, and treatment of EO were collected and analyzed. RESULTS: Twenty-nine patients were reported by 12 centers. Twenty-six patients with EO (90%) had ARM with a rectourinary fistula. Median age at first EO was 2 years (range: 15 days-27 years). Twenty patients (69%) experienced multiple EO, and 60% of recurrences were ipsilateral. Associated urological anomalies included vesicoureteral reflux (48%), urethral anomalies (41%), neurogenic bladder (41%), and ectopic vas (10%). A positive urine culture during EO was present in 69%. EO was treated with antibiotics (90%), limiting surgical exploration to 14%. Prevention of recurrences included surgery (bulking agents 15%, vasectomy 15%, and orchiectomy 5%) and antibiotic prophylaxis (20%). CONCLUSION: Urologists may encounter patients with EO in ARM patients, frequently with positive urine culture. An appropriate urologic work-up for most ARM patients is necessary to identify and treat underlying risk factors. A practical scheme for the work-up is suggested for a close collaboration between pediatric surgeons and urologists.

"In a Way We Took the Hospital Home"-A Descriptive Mixed-Methods Study of Parents' Usage and Experiences of eHealth for Self-Management after Hospital Discharge Due to Pediatric Surgery or Preterm Birth.

The costly and complex needs for children with long-term illness are challenging. Safe eHealth communication is warranted to facilitate health improvement and care services. This mixed-methods study aimed to describe parents' usage and experiences of communicating with professionals during hospital-to-home-transition after their child's preterm birth or surgery for colorectal malformations, using an eHealth device, specifically designed for communication and support via nurses at the hospital. The eHealth devices included the possibility for daily reports, video calls, text messaging, and sending images. Interviews with 25 parents were analyzed with qualitative content analysis. Usage data from eHealth devices were compiled from database entries and analyzed statistically. Parents using the eHealth device expressed reduced worry and stress during the initial period at home through effective and safe communication. Benefits described included keeping track of their child's progress and having easy access to support whenever needed. This was corroborated by usage data indicating that contact was made throughout the day, and more among families living far away from hospital. The eHealth device potentially replaced phone calls and prevented unnecessary visits. The eHealth technique can aid safe self-treatment within child- and family-centered care in neonatal and pediatric surgery treatment. Future research may consider organization perspectives and health economics.

Accuracy of pre-operative fistula diagnostics in anorectal malformations.

BACKGROUND: Surgical safety during posterior sagittal anorectal plasty (PSARP) for anorectal malformations (ARM) depends on accurate pre-operative fistula localization. This study aimed to evaluate accuracy of pre-operative fistula diagnostics. METHODS: Ethical approval was obtained. Diagnostic accuracy of pre-PSARP symptoms (stool in urine, urine in passive ostomy, urinary tract infection) and examination modalities (voiding cystourethrogram (VCUG), high-pressure colostogram, cystoscopy and ostomy endoscopy) were compared to final intra-operative ARM-type classification in all male neonates born with ARM without a perineal fistula treated at a tertiary pediatric surgery center during 2001-2020. RESULTS: The 38 included neonates underwent reconstruction surgery through PSARP with diverted ostomy. Thirty-one (82%) had a recto-urinary tract fistula and seven (18%) no fistula. Ostomy endoscopy yielded the highest diagnostic accuracy for fistula presence (22 correctly classified/24 examined cases; 92%), and pre-operative symptoms the lowest (21/38; 55%). For pre-operative fistula level determination, cystoscopy yielded the highest diagnostic accuracy (14/20; 70%), followed by colostogram (23/35; 66%), and VCUG (21/36; 58%). No modality proved to be statistically superior to any other. CONCLUSIONS: Ostomy endoscopy has the highest diagnostic accuracy for fistula presence, and cystoscopy and high-pressure colostogram for fistula level determination. Correct pre-operative ARM-typing reached a maximum of 60-70%.

Sex and age differences in lower urinary tract dysfunction in healthy children.

AIM: Information about healthy children's urinary tract symptoms is scarce but would be helpful in children with congenital urinary tract conditions. The aim of this study was to develop and evaluate a Lower Urinary Tract Dysfunction (LUTD) questionnaire. METHODS: A 15-item questionnaire based on definitions by the International Children's Continence Society (ICCS) about urinary tract function, was given to children 4-15 years old with no gastrointestinal or urinary tract conditions. The study was approved ethically. RESULTS: The response rate was 82% (311/377), 50% (n = 155) were girls. Children were of the age groups 3.5-7 years (n = 136), 8-12 years (n = 127), and 13-15 years (n = 48). More girls than boys reported urinary tract infections (20% vs 3%, p < 0.001), while prevalences of incontinence and enuresis were equivalent in both sexes. In the youngest age group, enuresis was the most frequently reported symptom (11%), then daytime incontinence (10%). The older children more frequently reported previous urinary tract infections (12% and 17% in respective groups) and daytime incontinence (9% and 6%, respectively). CONCLUSION: A LUTD questionnaire is developed and evaluated within this study. Daytime urinary incontinence is the overall most common lower urinary tract symptom and girls report infections more frequently than boys.

Diet plays a central role in parental self-treatment of children with Hirschsprung's disease-a qualitative study.

AIM: Hirschsprung's disease is a congenital disorder requiring surgery. Most children operated on for Hirschsprung's disease experience postoperative bowel dysmotility. Although various food is known to influence bowel motility, evidence of diet's role and dietary guidelines in treatment of bowel dysfunction in Hirschsprung's disease is lacking. The aim was to explore parental experiences of dietary effects on bowel function in children with Hirschsprung's disease. METHODS: A qualitative study including three focus groups with ten parents of children with Hirschsprung's disease at a national Hirschsprung's disease centre. Data were analysed through content analysis. RESULTS: Parents emphasised diet as a strong influencer on their child's bowel function in Hirschsprung's disease. They expressed great concerns about their responsibility and strived hard to explore and adjust dietary habits to control the child's bowel function. Families' daily and social lives were influenced by the child's diet and bowel function. The parents desired dietary support and guidelines to improve their confidence in self-treatment of Hirschsprung's disease. CONCLUSION: Dietary habits play a key role in parental self-treatment of bowel function in their children with Hirschsprung's disease. Dietary guidelines for patients with Hirschsprung's disease are anticipated.

Ultra high frequency ultrasonography to distinguish ganglionic from aganglionic bowel wall in Hirschsprung disease: A first report.

BACKGROUND/PURPOSE: In Hirschsprung disease (HD) surgery, confirming ganglionic bowel is essential. A faster diagnostic method than the current frozen biopsy is desirable. This study investigated whether aganglionic and ganglionic intestinal wall can be distinguished from each other by ultra high frequency ultrasound (UHF ultrasound). METHODS: In an HD center during 2019, intestinal walls of recto-sigmoid specimens from HD patients were examined ex vivo with a 70 MHz UHF ultrasound transducer. Data from four sites were described. Histopathologic analysis was compared to the ultrasonography outcome at each site. Each patient's specimen served as its own control. RESULTS: 11 resected recto-sigmoid specimens (median 20 cm long [range 6.5-33]) with transition zones of 5 cm (2-11 cm) were taken from children aged 22 days (13-48) weighing 3668 g (3500-5508); 44 key sites were analyzed. There was full concordance for 42/44 (95%) key sites and 10 of 11 (91%) specimens. The specimen with discordance of two key sites contained a segment of aganglionosis (3 cm) and a transition zone (1 cm): the site discordance was limited to the transition zone ends. CONCLUSIONS: This first report on UHF ultrasound in recto-sigmoid HD shows promising results in identifying aganglionosis, transition zones and ganglionic bowel. Further in vivo studies are required.

Reaching adulthood with Hirschsprung's disease: Patient experiences and recommendations for transitional care.

BACKGROUND/PURPOSE: The need for transitional care has gained increased focus in the treatment of patients with congenital colorectal disorders. We aimed to acquire in-depth knowledge about the experiences of adult patients with Hirschsprung's disease (HD) and their suggestions for transitional care. METHODS: Binational study applying gender equal focus group interviews (FGI). RESULTS: Seventeen (9 men) of 52 invited patients with median age 29 (19-43) years participated. Three themes evolved from the FGI. "Scarred body and soul" describes the somatic and psychosocial challenges the patients experienced and "limited health literacy on HD" refers to the patients' lack of HD knowledge. "Absent transition" depicts missing transitional care and the patients' inability to find adult HD specialists. The adult HD patients strongly recommended transitional care from early teens with focus on information about HD and establishment of a peer-to-peer program. They also emphasized the possibility of being referred to a pelvic floor center. CONCLUSIONS: HD negatively influences patients' somatic and psychosocial health in childhood, adolescence and adulthood. Adult HD patients strongly recommend transitional care from early teens and the possibility for referral to a center working with pelvic floor dysfunctions. LEVEL OF EVIDENCE: IV TYPE OF RESEARCH: Clinical.