A multi-center cross-sectional comparison of parent-reported quality of life and bowel function between anorectal malformation and Hirschsprung’s disease patients with versus those without Down syndrome
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In brief
In brief
Multi-center study comparing quality of life and bowel function in pediatric ARM and HD patients with and without Down syndrome. While parent-reported QOL scores were similar between groups, patients with DS showed significantly worse family impact and bowel function outcomes, highlighting unique care challenges in this population.
- Parent-reported QOL scores were similar in ARM/HD patients with vs without Down syndrome using PedsQL Generic Core Scales.
- ARM and HD patients with Down syndrome had significantly worse bowel function scores compared to those without Down syndrome.
- Family impact was greater in ARM/HD patients with Down syndrome, suggesting increased caregiver burden despite similar child QOL.
- Down syndrome prevalence was 8.9% in ARM and 6.9% in HD cohorts across four tertiary centers (n=188 total patients).
- Small sample size (9 ARM-DS, 6 HD-DS) limits generalizability; larger studies needed to confirm bowel function disparities.
Written by the GCMD Library team from the article.
Abstract
Purpose
Down syndrome (DS) is a common abnormality associated with anorectal malformation (ARM) and Hirschsprung’s disease (HD). However, quality of life (QOL) in ARM and HD patients with DS is under-researched. This study compares parent-reported QOL and bowel function in ARM and HD patients with DS to those without.
Methods
Between December 2020 to February 2023, parents of ARM and HD patients with and without DS aged 3–17 years who had undergone surgery > 12 months prior at four tertiary referral centers were recruited. We used the Pediatric Quality of Life Inventory™ (PedsQL™) Generic Core Scales, General Well-Being (GWB) Scale and Family Impact (FI) Module questionnaires, and the Rintala bowel function score (BFS).
Results
There were 101 ARM, 9 (8.9%) of whom had DS; and 87 HD, of whom 6 (6.9%) had DS. Parent-reported Core scores in ARM and HD with DS were comparable to those without DS. However, ARM and HD with DS had worse scores in the FI Module and bowel function than those without DS.
Conclusion
Although parent-reported QOL in ARM and HD with DS is similar to those without DS, family impact and BFS are worse. Our findings are limited by small sample size in proportion of DS patients.