Hirschsprung's Disease

What is the incidence, presentation, current management strategies and outcome at one year after diagnosis of Hirschprung's Disease in the UK and Ireland?

Key points

  • Despite many recent advances in the surgical management of Hirschsprung's Disease (HD) in the past decade these have only been evaluated in retrospective studies with short-term follow up.
  • Most children with HD do not develop complications during the first 30 post-operative days, emphasizing the importance of assessment of later outcome.
  • Population-based information on the impact of different management strategies is essential to provide a true picture of the prognosis for infants with HD in the UK.
  • This study will provide a national picture of the incidence of the condition, its management and outcomes.

Surveillance Period

October 2010 – September 2012

Background

Hirschsprung's Disease (HD) is a common cause of intestinal obstruction in the newborn period, characterized by an absence of ganglia in the enteric nervous system of the distal bowel (aganglionosis). The estimated incidence of HD is 1 in 5000 live births[1][2], with 90% of cases diagnosed in the newborn period[3]. However, there is limited information about the incidence and mode of presentation of HD in the UK[4][5]. Information regarding operative outcome is limited to case series collected over prolonged periods at single referral centres, rather than population-based data, which give a full and unbiased picture. A recent survey of UK and Irish paediatric surgeons highlighted changes in the preferred management of HD over a decade since the last survey[6]. To date, there are no prospective, population-based observational studies of HD to define current surgical management strategies and provide truly representative outcome data in a cohort of children born during the same (short) time period. Long-term outcome is of paramount importance, and defines the success of the early surgical management of HD. Most children with HD do not develop complications during the first 30 post-operative days[7], emphasizing the importance of assessment of later outcome. In the proposed study, outcome data at one year will be collected. This information will allow critical analysis of different management strategies, aid in the development of management guidelines and facilitate the planning of resource allocation and service provision.

This study will be the first national, population-based study with prospective follow-up of a birth cohort of infants with HD. It will provide accurate data regarding the incidence and associations of HD in the UK; the current surgical management of HD; and complications and specialist service utilization of these patients in the first year of life. These data will provide a benchmark against which paediatric surgeons can assess their own operative results, and hopefully lead to improved outcomes for patients with Hirschsprung's Disease.

Objective

To describe the current surgical management and outcomes of infants with HD in the UK.

Research questions

  1. What is the current diagnosed incidence and birth incidence of HD in the UK and Ireland?
  2. What is the prevalence of associated anomalies in HD?
  3. What are the modes of presentation and current diagnostic strategies for HD
  4. How are infants with HD managed surgically and what are the complications of each management strategy?
  5. What are the outcomes at one year after diagnosis and how do these relate this to the early surgical management?

Case definition

Any live-born infant diagnosed with Hirschsprung's Disease up to 6 months of age. This is defined as an absence of ganglia in the enteric nervous system of the distal bowel (aganglionosis).

Funding

Newlife charity.

Ethics approval

The study has been approved by the West of Scotland REC 4 (REC reference number: 10/S0704/47)

Investigators

Mr Gregor Walker, Dr Timothy Bradnock, Royal Hospital for Sick Children, Glasgow Professor Marian Knight, Professor Jenny Kurinczuk, NPEU Mr Simon Kenny, Royal Liverpool Children's Hospital, Liverpool Professor Paul Johnson, John Radcliffe Hospital, Oxford Dr Elizabeth Draper, Leicester University, BINOCAR

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BAPS-CASS Hirschsprung's Disease DCF

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References

  1. ^ Spouge D, Baird PA. Hirschsprung's disease in a large birth cohort. Teratology 1985; 32: 171-177.
  2. ^ Suita S, Taguchi T, Ieiri S, et al. Hirschsprung's disease in Japan: An analysis of 3852 patients based on a nationwide survey in 30 years. J Pediatr Surg 2005; 40: 197-201.
  3. ^ Singh SJ, Croaker GD, Manglick P, et al. Hirschsprung's disease: The Australian Paediatric Surveillance Unit's experience. Pediatr Surg Int 2003; 19: 247-250.
  4. ^ Bodian M, Carter C. A family study of Hirschsprung's disease. Ann Hum Genet 1963; 26: 261-277.
  5. ^ Orr JD, Scobie WG. Presentation and incidence of Hirschsprung's disease. Br Med J (Clin Res Ed) 1983; 287: 1671.
  6. ^ Huddart SN. Hirschsprung's disease: Present UK practice. Ann R Coll Surg Engl 1998; 80: 46-48.
  7. ^ Little DC, Snyder CL. Early and late complications following operative repair of Hirschsprung's disease. In: Holschneider AM, Puri P (eds). Hirschsprung's disease.