Transitional Care for Patients with Congenital Colorectal Diseases : An EUPSA Network Office, ERNICA, and eUROGEN Joint Venture

Publisher Copyright: © 2023 The Author(s)BACKGROUND: Transition of care (TOC; from childhood into adulthood) of patients with anorectal malformations (ARM) and Hirschsprung disease (HD) ensures continuation of care for these patients. The aim of this international study was to assess the current status of TOC and adult care (AC) programs for patients with ARM and HD. METHODS: A survey was developed by members of EUPSA, ERN eUROGEN, and ERNICA, including patient representatives (ePAGs), comprising of four domains: general information, general questions about transition to adulthood, and disease-specific questions regarding TOC and AC programs. Recruitment of centres was done by the ERNs and EUPSA, using mailing lists and social media accounts. Only descriptive statistics were reported. RESULTS: In total, 82 centres from 21 different countries entered the survey. Approximately half of them were ERN network members. Seventy-two centres (87.8%) had a self-reported area of expertise for both ARM and HD. Specific TOC programs were installed in 44% of the centres and AC programs in 31% of these centres. When comparing centres, wide variation was observed in the content of the programs. CONCLUSION: Despite the awareness of the importance of TOC and AC programs, these programs were installed in less than 50% of the participating centres. Various transition and AC programs were applied, with considerable heterogeneity in implementation, content and responsible caregivers involved. Sharing best practice examples and taking into account local and National Health Care Programs might lead to a better continuation of care in the future. LEVEL OF EVIDENCE: III.Peer reviewe

Ultrasonography guided puncture and dilatation in membranous rectal atresia

Purpose: Rectal atresia (RA) is a rare type of anorectal malformation (ARM), occurring in 1–2% of ARM. Discussion remains on optimal treatment strategy for RA. The aim of this study was to present a minimally invasive method to treat patients with membranous RA: ultrasonography guided puncture and dilatation. Cases: Three children are described (1 female, and 2 male). All patients were diagnosed with membranous RA, and treated with ultrasonography guided puncture and dilatation within 48 hours after birth. The procedure was performed under sedation and was uncomplicated in all patients. Follow-up showed good bowel function in 2 of 3 patients. One patient had persistent constipation needing laxative treatment up to the age of 6 years. Conclusions: Rectal atresia is extremely rare, and little is known on optimal treatment methods. Ultrasonography guided puncture and dilatation is a minimally invasive technique to potentially adequately treat patients with membranous RA. In our patients, this treatment strategy has shown to be effective with good long-term outcomes regarding bowel function. Further research should be performed to further investigate optimal treatment for the different types of RA

Additional Anomalies in Children with Gastroschisis and Omphalocele: A Retrospective Cohort Study

Background: Congenital abdominal wall defects might be associated with other anomalies, such as atresia in gastroschisis and cardiac anomalies in omphalocele patients. However, in the current literature, an overview of these additional anomalies and potential patient-specific risk factors is missing. Therefore, we aimed to assess the prevalence of associated anomalies and their patient-specific risk factors in patients with gastroschisis and omphalocele. Methods: A mono-center retrospective cohort study between 1997 and 2023 was performed. Outcomes were the presence of any additional anomalies. Risk factors were analyzed via logistic regression analysis. Results: In total, 122 patients were included, of whom 82 (67.2%) had gastroschisis, and 40 (32.8%) had omphalocele. Additional anomalies were identified in 26 gastroschisis patients (31.7%) and in 27 omphalocele patients (67.5%). In patients with gastroschisis, intestinal anomalies were most identified (n = 13, 15.9%), whereas, in patients with omphalocele, cardiac anomalies were most identified (n = 15, 37.5%). Logistic regression showed that cardiac anomalies were associated with complex gastroschisis (OR: 8.5; CI-95%: 1.4–49.5). Conclusions: In patients with gastroschisis and omphalocele, intestinal and cardiac anomalies were most identified, respectively. Cardiac anomalies were found to be a risk factor for patients with complex gastroschisis. Therefore, regardless of the type of gastroschisis and/or omphalocele, postnatal cardiac screening remains important

Outcomes after Surgical Treatment for Rectal Atresia in Children: Is There a Preferred Approach? A Systematic Review

Rectal atresia (RA) affects only 1 to 2% of all children with anorectal malformations. No consensus on optimal treatment strategy is yet achieved. Therefore, the aim of this systematic review is to summarize all surgical interventions for RA and outcomes described in the current literature. A literature search was conducted in PubMed, Embase, Web of Science, and Cochrane Library on January 24, 2022. All studies describing treatment for RA in children (< 18 years) were included. Operation technique and postoperative complications were listed. Only descriptive analysis was anticipated. Quality of the studies was assessed using Johanna Briggs Institute critical appraisal checklist for case reports and series. The search yielded 6,716 studies of which, after duplicate removal, 4,028 were excluded based on title and abstract screening. After full-text assessment, 22 of 90 studies were included, yielding 70 patients. Posterior sagittal anorectoplasty (PSARP) and pull-through were most performed (43/70 and 18/70 patients, respectively). Four patients experienced postoperative complications: anal stenosis (n = 1), anastomotic stenosis (n = 2), and death due to a pulmonary complication (n = 1). In the low-quality literature available, most patients with RA are treated with PSARP or pull-through technique. A low complication rate of both has been described but follow-up was often not mentioned. Larger well-designed studies should be performed to determine optimal treatment strategy for children with RA. This study reflects level of evidence V

The importance of screening for additional anomalies in patients with anorectal malformations: A retrospective cohort study

Background: In children with anorectal malformations (ARM), additional anomalies can occur within the VACTERL-association. Routine screening is of great importance for early identification and potential treatment. However, uniformity in screening protocols is lacking and only small cohorts have been described in literature. The aim of this study was to assess and describe a unique large cohort of ARM patients who underwent VACTERL screening in the neonatal period. Methods: A retrospective mono-center cohort study was performed. Included were all neonates born between January 2000 and December 2020 who were diagnosed with ARM and screened for additional anomalies. Full screening consisted of x-ray and ultrasound of the spine, cardiac and renal ultrasound, and physical examination for limb deformities, esophageal atresia, and ARM. Criteria for VACTERL-classification were predefined according to the EUROCAT-definitions. Results: In total, 216 patients were included, of whom 167 (77.3%) underwent full VACTERL-screening (66% in 2000–2006 vs. 82% in 2007–2013 vs. 86% in 2014–2020). Median age at follow-up was 7.0 years (IQR 3.0–12.8). In 103/167 patients (61.7%), additional anomalies were identified. Some 35/216 patients (16.2%) fulfilled the criteria of a form of VACTERL-association. In 37/216 patients (17.1%), a genetic cause or syndrome was found. Conclusions: The majority of ARM patients underwent full screening to detect additional anomalies (77%), which improved over time to 86%. Yet, approximately a quarter of patients was not screened, with the potential of missing important additional anomalies that might have severe consequences in the future. Forms of VACTERL-association or genetic causes were found in 16% and 17% respectively. This study emphasizes the importance of routine screening. Level of evidence: III

Spinal cord anomalies in children with anorectal malformations: a retrospective cohort study

Purpose: First, to assess the number of spinal cord anomalies (SCA), specifically tethered spinal cord (TSC) in patients with anorectal malformations (ARM), identified with spinal cord imaging (i.e. spinal cord US and/or MRI). Second, to report outcomes after TSC treatment. Methods: A retrospective mono-center study was performed. All ARM patients born between January 2000 and December 2021 were included. Screening for SCA consisted of spinal cord US and/or MRI. Radiology reports were scored on presence of SCA. Data were presented with descriptive statistics. Results: In total, 254 patients were eligible for inclusion, of whom 234 (92.1%) underwent spinal cord imaging. In total, 52 (22.2%) patients had a SCA, diagnosed with US (n = 20, 38.5%), MRI (n = 10, 19.2%), or both US and MRI (n = 22, 42.3%), of whom 12 (23.5%) with simple, 27 (52.7%) intermediate, and 12 (23.5%) complex ARM types. TSC was identified in 19 patients (8.1%), of whom 4 (21.1%) underwent uncomplicated neurosurgical intervention. Conclusions: SCA were present in 22% of ARM patients both in simple, as well as more complex ARM types. TSC was present in 19 patients with SCA, of whom 4 underwent uncomplicated neurosurgical intervention. Therefore, screening for SCA seems to be important for all ARM patients, regardless of ARM type. Level of Evidence: Level III

Children with an Anorectal Malformation Going to Primary School: The Parent’s Perspective

Background: Continence problems occur often in children with anorectal malformations (ARM). The aim of this study was to evaluate parental experiences with toilet facilities at Dutch primary schools and their experience with how schools deal with ARM children. Methods: This survey was developed in collaboration with the national patient advocacy group (PAG). Recruitment for participation was conducted by the PAG (email listing and social media) and one expertise center for ARM. Participants were parents of school-attending ARM children aged 3 to 12 years. Results: Sixty-one participants (31.9%) responded to the survey. The median age of the children was 7.0 years (IQR 5.0–9.0). Schools were often located in a village (63.9%) and encompassed 100–500 children (77.0%). In total, 14 parents (23.0%) experienced difficulties in finding a primary school. Experiences with the school were described as solely positive (37.7%), solely negative (9.8%), positive and negative (34.4%), and neither positive nor negative (16.4%). Regarding school toilet facilities, 65.6% of the toilets were reported clean and 78.7% were easily accessible. Conclusions: About 25% of parents reported difficulties in enrolling their children into primary school, and 45% reported negative experiences. This highlights the need for improved guidance and the optimization of education in schools when dealing with ARM children