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.

Optimal Diagnostic and Treatment Practices for Facial Dysostosis Syndromes: A Clinical Consensus Statement Among European Experts.

Facial dysostosis syndromes (FDS) are rare congenital conditions impacting facial development, often leading to diverse craniofacial abnormalities. This study addresses the scarcity of evidence on these syndromes about optimal diagnostic and treatment practices. To overcome this scarcity, European experts from ERN CRANIO collaborated to develop a clinical consensus statement through the Delphi consensus method. A systematic search of Embase, MEDLINE/PubMed, Cochrane, and Web of Science databases was conducted until February 2023. The quality of evidence was evaluated using various tools depending on the study design. Statements were subsequently formed based on literature and expert opinion, followed by a Delphi process with expert health care providers and patient representatives. In total, 92 experts from various specialties and three patient representatives were involved in the Delphi process. Over 3 voting rounds, consensus was achieved on 92 (46.9%), 58 (59.2%), and 19 (70.4%) statements, respectively. These statements cover the topics of general care; craniofacial reconstruction; the eyes and lacrimal system; upper airway management; genetics; hearing; speech; growth, feeding, and swallowing; dental treatment and orthodontics; extracranial anomalies; and psychology and cognition. The current clinical consensus statement provides valuable insights into optimal diagnostic and treatment practices and identifies key research opportunities for FDS. This consensus statement represents a significant advancement in FDS care, underlining the commitment of health care professionals to improve the understanding and management of these rare syndromes in Europe.

European reference network for rare inherited congenital anomalies (ERNICA) evidence based guideline on the management of gastroschisis.

BACKGROUND: The European Reference Network for rare Inherited Congenital Anomalies, ERNICA, guidelines for gastroschisis cover perinatal period to help teams to improve care. METHOD: A systematic literature search including 136 publications was conducted. Research findings were assessed following the GRADE methodology. The evidence to decision framework was used to determine the strength and direction of recommendations. RESULTS: The mode or timing of delivery do not impact neonatal mortality, risk of NEC or time on parenteral nutrition (PN). Intra or extra abdominal bowel dilatation predict complex gastroschisis and longer length of hospital stay but not increased perinatal mortality. Outcomes after Bianchi procedure and primary fascia closure under anesthesia are similar. Sutureless closure decreases the rate of surgical site infections and duration of ventilation compared to surgical closure. Silo-staged closure with or without intubation results in similar outcomes. Outcomes of complex gastroschisis (CG) undergoing early or delayed surgical repair are similar. Early enteral feeds starting within 14 days is associated with lower risk of surgical site infection. RECOMMENDATIONS: The panel suggests vaginal birth between 37 and 39 w in cases of uncomplicated gastroschisis. Bianchi's approach is an option in simple gastroschisis. Sutureless closure is suggested when general anesthesia can be avoided, sutured closure. If anesthesia is required. Silo treatment without ventilation and general anesthesia can be considered. In CG with atresia primary intestinal repair can be attempted if the condition of patient and intestine allows. Enteral feeds for simple gastroschisis should start within 14 days.

Moving toward the Development and Effective Implementation of High-Quality Guidelines in Pediatric Surgery: A Review of the Literature.

Applying evidence-based guidelines can enhance the quality of patient care. While robust guideline development methodology ensures credibility and validity, methodological variations can impact guideline quality. Besides methodological rigor, effective implementation is crucial for achieving improved health outcomes. This review provides an overview of recent literature pertaining to the development and implementation of guidelines in pediatric surgery. Literature was reviewed to provide an overview of sound guideline development methodologies and approaches to promote effective guideline implementation. Challenges specific to pediatric surgery were highlighted. A search was performed to identify published guidelines relevant to pediatric surgery from 2018 to June 2023, and their quality was collectively appraised using the AGREE II instrument. High-quality guideline development can be promoted by using methodologically sound tools such as the Guidelines 2.0 checklist, the GRADE system, and the AGREE II instrument. While implementation can be promoted during guideline development and post-publication, its effectiveness may be influenced by various factors. Challenges pertinent to pediatric surgery, such as limited evidence and difficulties with outcome selection and heterogeneity, may impact guideline quality and effective implementation. Fifteen guidelines were identified and collectively appraised as suboptimal, with a mean overall AGREE II score of 58%, with applicability being the lowest scoring domain. There are identified challenges and barriers to the development and effective implementation of high-quality guidelines in pediatric surgery. It is valuable to prioritize the identification of adapted, innovative methodological strategies and the use of implementation science to understand and achieve effective guideline implementation.