Division of Paediatric and Neonatal Surgery, Department of Surgery, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.
Department of Paediatric Surgery, Sabah Women's and Children's Hospital, Kota Kinabalu, Sabah, Malaysia.
Pediatr Surg Int. 2024 Jul 24;40(1):209. doi: 10.1007/s00383-024-05792-z.
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.
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).
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.
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.
唐氏综合征（DS）是一种常见的与肛门直肠畸形（ARM）和先天性巨结肠（HD）相关的异常。然而，DS 合并 ARM 和 HD 患者的生活质量（QOL）研究较少。本研究比较了 DS 合并 ARM 和 HD 患者与无 DS 患者的父母报告的 QOL 和肠道功能。
2020 年 12 月至 2023 年 2 月，在四个三级转诊中心招募了 3-17 岁、手术时间超过 12 个月且无 DS 的 ARM 和 HD 患者及其父母。我们使用了儿童生活质量量表（PedsQL™）通用核心量表、总体健康状况（GWB）量表和家庭影响（FI）模块问卷，以及 Rintala 肠道功能评分（BFS）。
共纳入 101 例 ARM 患者，其中 9 例（8.9%）有 DS；87 例 HD 患者，其中 6 例（6.9%）有 DS。DS 合并 ARM 和 HD 的患者的核心量表评分与无 DS 的患者相当。然而，DS 合并 ARM 和 HD 的患者在 FI 模块和肠道功能方面的评分比无 DS 的患者差。
尽管 DS 合并 ARM 和 HD 的患者的父母报告的 QOL 与无 DS 的患者相似，但家庭影响和 BFS 更差。我们的研究结果受到 DS 患者比例小的限制。
