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.

Primary outcomes were functional outcomes and quality of life. These were studied in children aged 4 years and over by the end of the study period. 85 patients qualified for the study with an age range of 4.2 to 10.1 years (median 6.7 years). 76 patients were eligible to complete the functional questionnaire and there was a response rate of 76.3% (58/76). 77.5% (62) completed the QOL score. These were compared with an age and gender-matched control group.

The study found that children with a more severe lesion had a significantly lower functional outcome score, independent of age. However, their quality of life did not seem to be impacted upon by their condition.

The long-term outcome of ARMs is poorly described. Understanding the childhood impact of ARM on a child and family's function and QOL in the medium term is important. However, the long-term impact on adolescents and adults who have this condition may differ significantly. During this period there is a significant shift in the patient's understanding and management of their own condition, and other factors including sexual function and obstetric issues become more important.

Since this study period there has been an increase in the undertaking of surgery in the neonatal period in children with a 'low' ARM, in some cases avoiding colostomy in those who would previously have required one. This change in practice may alter the impact of an ARM on a child's QOL and function.

The NETS1HD study group have recently developed a core outcome set to be used in studies comparing interventions for children with Hirschsprung's Disease which consists of a group of agreed, standardised outcomes that have been identified by key stakeholders as being the most important in determining success of treatment.

By using this core outcome set to evaluate the short and long-term outcomes of children with HSCR and ARM in the North West region, this study will be able to provide important prognostic information to parents. As this is a heterogenous group of patients, the investigators will be looking to identify the differences in long-term functional outcomes between patient subgroups and whether particular operative strategies have more favourable long-term outcomes. This will allow counselling of parents appropriately at the time of diagnosis and will assist clinical decision-making regarding the management of individual patients.

Inclusion criteria

• All children treated at either center with histologically confirmed Hirschsprung's Disease since diagnosis from 1991
• All children diagnosed with anorectal malformation on the basis of position in relation to the external sphincter and size

Exclusion criteria

• Patients with non-histologically diagnosed Hirschsprung's Disease
• Patients whose initial primary treatment or majority of follow-up for either condition has been external to either center
• Patients with funnel anus
• Adults who are unable to consent for themselves