Objectives To describe clinical characteristics and preoperative management of a national cohort of infants with Hirschsprung's disease (HD).
Design Population-based cohort study of all live-born infants with HD born in the UK and Ireland from October 2010 to September 2012.
Setting All 28 paediatric surgical centres in the UK and Ireland.
Participants 305 infants presenting before 6 months of age with histologically proven HD.
Main outcome measures Incidence, clinical characteristics including gestational age, birth weight, gender, associated anomalies; age and clinical features at presentation; and use of rectal washouts or stoma.
Results 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.
Conclusions 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.
- Hirschsprung's disease
- Associated anomalies
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Collaborators Elizabeth Draper, Adil Aslam, Marcin Kazmierski, Wajid Jawaid, Ingo Jester, Anindya Niyogi, Eleri Cusick, Janet McNally, Simon Clarke, Julie Galea, Shabnam Parker, Emily Broadis, Ewan Brownlee, Charles Keys, Dorothy Kufeji, Nicholas Alexander, Jo Curry, Samir Gupta, Saravanakumar Paramalingam, Sanja Besarovic, Paul Johnson, Ceri Jones, Bhanu Lakshminarayanan, Helen Carnaghan, Shailesh Patel, Ian Sugarman, Shawqui Nour, Thomas Tsang, Jenny Kurinczuk, Prem Puri, Suzanne McMahon, Sandeep Motiwale, Shailinder Singh, Richard Thompson, Costa Healy, Anies Mahomed, David Marshall, Evelyn Ervine, Lara Shipley, Augusto Zani, Paul Charlesworth, Ashwini Joshi, Simone Ragazzi, Ross Craigie, Sumita Chhabra, Bruce Jaffray, Anne Lawson, Sean Marven, Karen Lloyd, Govind Murthi, Michael Stanton, Simon Blackburn, Stefano Giuliani, Eric Nicholls, Bruce Okoye, Dermot McDowell, Alan Mortell, Suzanne McMahon, Simon Huddart, Ram Shrestha, Julianne Rowsell on behalf of the British Association of Paediatric Surgeons Congenital Anomalies Surveillance System.
Contributors TJB designed the study protocol and data collection forms, monitored data collection for the whole study, wrote the statistical analysis plan, cleaned and analysed the data and drafted and revised the paper. MK designed the study protocol and data collection forms, monitored data collection for the whole study, contributed to the statistical analysis plan, helped analyse the data and revised the paper. SK helped design the study protocol and data collection forms; contributed to the statistical analysis plan and revised the paper. MN wrote the statistical analysis plan, cleaned and analysed the data and revised the paper. GMW designed the study protocol and data collection forms, monitored data collection for the whole study, wrote the statistical analysis plan and drafted and revised the paper. All authors had full access to all of the data (including statistical reports and tables) in the study and can take responsibility for the integrity of the data and the accuracy of the data analysis. GMW is guarantor. GMW affirms that the manuscript is an honest, accurate and transparent account of the study being reported, that no important aspects of the study have been omitted and that any discrepancies from the study as planned (and, if relevant, registered) have been explained.
Funding This study was funded by the charity BDF Newlife and the British Association of Paediatric Surgeons. MK is funded by an NIHR Research Professorship (NIHR-RP-011-032). The views expressed in this publication are those of the author(s), and not necessarily those of the NHS, the NIHR, or the Department of Health. All authors are independent of the funders.
Competing interests None declared.
Ethics approval This study was approved by the West of Scotland REC 4 (Ref: 10/S0704/47).
Provenance and peer review Not commissioned; externally peer reviewed.
Data sharing statement Data sharing is governed by the National Perinatal Epidemiology Unit Data Sharing Policy, which can be obtained from the corresponding author.
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