Quality of life measures in children with Down syndrome with disorders of gut-brain interaction.

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-26 DOI:10.1002/ajmg.c.32071
Steven L Ciciora, Kandamurugu Manickam, Miguel Saps
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Abstract

Down syndrome (DS) is associated with multiple medical comorbidities. Perhaps related to such, caregivers of individuals with DS report lower quality of life (QoL) compared to individuals without DS. It has been shown that disorders of gut-brain interaction (DGBI) such as functional constipation (FC) and irritable bowel syndrome (IBS) are common in individuals with DS. We measured caregiver-reported QoL in individuals with DS with a DGBI and compared them to individuals with DS without a DGBI via a cross-sectional national survey. All measures of QoL were lower in those with DS who meet criteria for a DGBI compared to those with DS without a DGBI. Males and females with DS and at least one DGBI had similar QoL scores. While FC was the most common DGBI seen in individuals with DS, there was no difference in any aspect of QoL in subjects with FC when compared to individuals with other DGBIs. However, all measures of QoL were lower in those with IBS compared to individuals with other DGBIs. These findings suggest that management of gastrointestinal symptoms from DGBIs, particularly IBS, may serve as a target for increasing QoL in a notable subset of individuals with DS.

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唐氏综合症伴肠脑互动障碍儿童的生活质量测量。
唐氏综合征(DS)与多种医学合并症有关。也许与此相关,患有DS的患者的护理人员报告称,与没有DS的患者相比,生活质量(QoL)较低。研究表明,肠脑相互作用(DGBI)障碍,如功能性便秘(FC)和肠易激综合征(IBS)在患有DS的人中很常见。我们测量了患有DGBI的DS患者的护理者报告的生活质量,并通过一项横断面全国调查将其与没有DGBI的患有DS的患者进行了比较。与没有DGBI的DS患者相比,符合DGBI标准的DS患者的所有生活质量指标均较低。患有DS和至少一种DGBI的男性和女性的生活质量得分相似。虽然FC是DS患者中最常见的DGBI,但与其他DGBI患者相比,FC患者的生活质量在任何方面都没有差异。然而,与其他DGBI患者相比,IBS患者的所有生活质量指标均较低。这些发现表明,DGBI的胃肠道症状,特别是IBS的治疗,可能是提高DS患者生活质量的一个重要目标。
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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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