title: Hirschsprung's disease in the UK and Ireland: incidence and anomalies.
abstract: To describe clinical characteristics and preoperative management of a national cohort of infants with Hirschsprung's disease (HD).
  
  
  
  Population-based cohort study of all live-born infants with HD born in the UK and Ireland from October 2010 to September 2012.
  
  
  
  All 28 paediatric surgical centres in the UK and Ireland.
  
  
  
  305 infants presenting before 6 months of age with histologically proven HD.
  
  
  
  Incidence, clinical characteristics including gestational age, birth weight, gender, associated anomalies; age and clinical features at presentation; and use of rectal washouts or stoma.
  
  
  
  The incidence of HD in the UK and Ireland was 1.8 per 10 000 live births (95% CI 1.5 to 1.9). Male to female ratio was 3.3:1. An associated anomaly was identified in 23% (69), with 15% (47) having a recognisable syndrome. The proportion of infants who presented and were diagnosed in the neonatal period was 91.5% (279) and 83.9% (256), respectively. 23.9% (73) and 44.2% (135) passed meconium within 24 and 48 hours of birth. 81% (246) first presented to a hospital without tertiary paediatric surgical services, necessitating interhospital transfer. Initial colonic decompression was by rectal washouts in 86.2% (263) and by defunctioning stoma in 12.8% (39). Subsequently, 27.4% (72) of infants failed management with rectal washouts and required a delayed stoma, resulting in 36.4% (111) of infants having a stoma.
  
  
  
  In this population-based cohort, presentation outside the neonatal period was rare. Nearly half of the infants with HD passed meconium within 48 hours of birth and over one third were managed with a stoma.
authors.affiliation: Department of Paediatric Surgery, The Royal Hospital for Children, Glasgow, UK.
authors.forename: T J
authors.identifier: 0000-0003-4381-2706
authors.initials: TJ
authors.lastname: Bradnock
authors.affiliation: National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
authors.forename: M
authors.initials: M
authors.lastname: Knight
authors.affiliation: Department of Paediatric Surgery, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
authors.forename: S
authors.initials: S
authors.lastname: Kenny
authors.affiliation: National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
authors.forename: M
authors.initials: M
authors.lastname: Nair
authors.affiliation: Department of Paediatric Surgery, The Royal Hospital for Children, Glasgow, UK.
authors.forename: G M
authors.initials: GM
authors.lastname: Walker
mesh_terms: D015331:Cohort Studies; D019299:Decompression, Surgical / Q000706:statistics & numerical data; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications / Q000453:epidemiology* / Q000601:surgery; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007494:Ireland / Q000453:epidemiology; D008297:Male; D010818:Practice Patterns, Physicians'; D047928:Premature Birth / Q000453:epidemiology; D012307:Risk Factors; D054047:Surgical Stomas; D016896:Treatment Outcome; D006113:United Kingdom / Q000453:epidemiology
keywords: Associated anomalies; Hirschsprung's disease; Incidence; Management