Long-term Qualitative and Quantitative Outcomes of Children With Hirschsprung's Disease and Anorectal Malformations

Hirschsprung's disease (HSCR) affects 1 in 5000 live births in the UK and is caused by a failure of development of the enteric nervous system (aganglionosis) in the distal bowel to a variable extent. Short segment HSCR, in which the aganglionic segment is restricted to the rectosigmoid region, accounts for over 80% of cases, as opposed to the more extensive long-segment HSCR which can affect the entire colon resulting in total colonic aganglionosis.

Current surgical management requires resection of the affected bowel with anastomosis of normal bowel to the anus or rectum. There are significant differences in operative and management strategies nationally and globally which include open, laparoscopic and purely trans-anal approaches, and the different pull-through procedures include the Duhamel, Swenson and the Soave. Each approach has potential advantages and disadvantages however it is not possible to draw a conclusion as to which operative strategy is the 'gold standard'.

The reasons for the current lack of clarity are multifactorial. In particular, most studies are small single-center, observational, short duration and retrospective. There is also a lack of strong evidence from systematic reviews and meta-analyses. Furthermore, there have been changes in practice over time in addition to significant outcome reporting heterogeneity in the published literature. It is therefore extremely difficult to provide accurate prognostic data to parents when the newborn is diagnosed with HSCR and at the time of the definitive pull-through procedure.

The investigators have previously reported early adult functional outcomes and long-term functional outcomes following the Duhamel procedure. Functional outcome scores were calculated by using the Rintala scoring system, and individual scores improved with time. There has since been a change in practice at Alder Hey (AH) and the more common procedure now performed is a modification of the Soave procedure. It is therefore of importance to compare the functional outcomes of patients who have undergone different procedures and to assess the longer-term outcomes of the cohort previously assessed.

Eleven years ago the investigators also published the outcomes of children with anorectal malformations (ARMs) in children presenting between 1994 and 2000. At the time the Posterior-Sagittal Ano-RectoPlasty (PSARP) had recently become the widely accepted primary surgical approach to ARMs. The study unit established a follow-up clinic dedicated solely to patients with ARM in 1994 and consultants sub-specialised to prevent dilution of case-load.