Quality of life in patients with anorectal malformation or Hirschsprung's disease - Development of a disease-specific questionnaire

PURPOSE: Hirschsprung's disease and anorectal malformation are congenital diseases of the digestive tract with sequelae into adulthood. The quality of life of patients with these diseases is largely unknown. The aim of the study was 1) to construct a self-report disease-specific instrument to assess the quality of life in these patients and 2) to evaluate its psychometric performance. METHODS: An age-specific (6 and 7 years, 8-11 years, 12-16 years, and > 17 years) questionnaire called the Hirschsprung's disease/anorectal malformation quality-of-life instrument was constructed. This questionnaire consists of 39 to 42 items, grouped into 10 to 11 scales that cover physical, emotional, and social functions as well as disease-related symptoms. Generic quality-of-life data were obtained in addition. A national sample of 715 patients aged six years and older completed the questionnaire (response rate, 61.9 percent). RESULTS: Multitrait scaling analyses confirmed the hypothesized scale structure with exception of the scales related to diet for the two youngest groups. Cronbach's alpha ranged (with exception of the diet scales) from 0.62 to 0.91 for children (8-11 years), from 0.69 to 0.82 for adolescents (12-16 years) and from 0.57 to 0.91 for adults. Selective scales were able to discriminate between subgroups of adult patients known to differ in disease and disease severity. Relevant scales of the adult version showed substantial correlations (> 0.40) with comparable scales of the SF-36. In the two youngest age groups the differences between subgroups of patients were less significant, but in the expected direction. CONCLUSIONS: With the exception of the scales related to diet, the Hirschsprung's disease/anorectal malformation quality-of-life instrument is an instrument with promising reliability and validity, to measure the disease-specific quality of life of patients with anorectal malformation or Hirschsprung's disease.