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

Topic overview

Key takeaways

• 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.

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