Core outcomeDefinitionScore 7–9 (%)Minimum age of measurement
Outcomes included regardless of OMERACT core area
Long-term voluntary bowel movements without need for enemas, or rectal of colonic irrigationLong-term voluntary bowel movements without need for enemas, or rectal or colonic irrigation.100%Five years of age
Long-term psychological stress for the individual with HDLong-term psychological stress for the individual with HD as measured by the PedsQL in children under 18 years of age, and the Gastrointestinal Quality of Life index in adults over the 18 years of age.100%Five years of age
Long-term urinary incontinenceInvoluntary voiding of urine that is constant, associated with social problems or requiring catheterisation.94%Five years of age
Objective score of quality of life using appropriate age-specific measuresQuality of life as measured by the age-appropriate PedsQL questionnaire.94%Five years of age
Need for a permanent stoma, with indication specifiedNeed for permanent stoma as a direct result of the diagnosis, or treatment of the participant's HD, including where the decision for a stoma has been made out of patient, or parental preference, or for continence management.
The indication for stoma formation should be reported.
A permanent stoma is defined as one which was created without the intention of later reversal.
88%Five years of age
Hirschsprung-associated enterocolitisA score of 10 or more on the Hirschsprung-associated enterocolitis Delphi score developed by Pastor et al.
Where it is not possible to use the Hirschsprung-associated Delphi score, for example, in hospitals where left shift of white cells is not reported, Hirschsprung-associated enterocolitis should instead be defined as ‘Clinician decision to admit and instigate treatment for Hirschsprung's Associated Enterocolitis’.
Information should be reported on whether a participant has had any episodes of Hirschsprung-associated enterocolitis up to a standard time-point, but also whether they have had 0, 1 or 2 episodes of Hirschsprung's associated enterocolitis in the previous 12 months, or up to the time-point of measurement, whichever is shorter.
88%No minimum
  • *Based on a modification of the Krickenbeck classification18

  • †Long-term psychological stress for the individual with HD, and objective score of quality of life using appropriate age-specific measures were both identified as outcomes that should be included in the core outcome set. However, following an extensive review of the existing literature and discussion at the measurement meeting, consensus was reached that the most appropriate way to measure both outcomes would be with the PedsQL questionnaire. Therefore, both outcomes can be incorporated in the same measure in studies utilising this Hirschsprung's disease core outcome set.

  • HD, Hirschsprung's disease; PEDsQL, Pediatric Quality of Life Inventory.