经典型半乳糖血症的挑战：儿科和成年患者的 HRQoL。
The challenges of classical galactosemia: HRQoL in pediatric and adult patients.
机构信息
Emma Children's Hospital, Department of Pediatrics, Division of Metabolic Diseases, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Inborn Errors of Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
出版信息
Orphanet J Rare Dis. 2023 Jun 2;18(1):135. doi: 10.1186/s13023-023-02749-8.
BACKGROUND
Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cognitive impairment and movement disorders, despite early diagnosis and dietary treatment. Two decades ago, lower motor-, cognitive- and social health related quality of life (HRQoL) was demonstrated in pediatric and adult patients. Since then, the diet has been relaxed, newborn screening was implemented and new international guidelines resulted in major changes in follow-up. The aim of this study was to assess HRQoL of CG by means of online self- and/or proxy-HRQoL-questionnaires focusing on the main areas of concern of CG (i.e. anxiety, depression, cognition, fatigue, social- and upper extremity function) within the patient-reported outcomes measurement information system (PROMIS®) and generic HRQoL-questionnaires (TAPQOL, TACQOL, TAAQOL).
RESULTS
Data of 61 Dutch patients (aged 1-52 years) were collected and compared to available Dutch or US reference populations. On the PROMIS-questionnaires, children reported more fatigue (P = 0.044), lower function in upper extremities (P = 0.021), more cognitive difficulties (P = 0.055, d = 0.56) and higher anxiety (P = 0.063, d = 0.52) than reference children although the latter findings remained non-significant. Parents of CG patients reported lower quality of peer relationships of their children (P < 0.001). Both children and parents reported lower cognitive functioning (P = 0.005, P = 0.010) on the TACQOL. Adults reported on PROMIS domains lower cognitive functioning (P = 0.030), higher anxiety (P = 0.004) and more fatigue (P = 0.026). Cognitive difficulties were reported on the TAAQOL by adults (P < 0.001), as well as physical-, sleeping and social difficulties.
CONCLUSIONS
CG remains to impact the HRQoL of pediatric and adult patients negatively on several domains including cognition, anxiety, motor function and fatigue. A lower social health was mainly reported by parents, and not by patients themselves. The Covid-19 pandemic might have amplified the results on anxiety although higher levels of anxiety fit pre-pandemic findings. The reported fatigue is a new finding in CG. Because the effect of lockdown fatigue could not be eliminated and fatigue is a frequent finding in patients with chronic disorders, future studies are warranted. Clinicians and researchers should be attentive to both pediatric and adult patients, and the age-dependent difficulties they might encounter.
背景
经典型半乳糖血症（CG）是一种先天性的半乳糖代谢异常，尽管早期诊断和饮食治疗，仍会导致长期并发症，包括认知障碍和运动障碍。二十年前，儿科和成年患者的研究表明，他们的运动功能、认知功能和社会健康相关生活质量（HRQoL）较低。从那时起，饮食放宽了，新生儿筛查得到了实施，新的国际指南导致了后续的重大变化。本研究的目的是通过在线自我和/或代理 HRQoL 问卷评估 CG 的 HRQoL，这些问卷主要关注 CG 的主要关注领域（即焦虑、抑郁、认知、疲劳、社会和上肢功能），并基于患者报告的结果测量信息系统（PROMIS®）和通用 HRQoL 问卷（TAPQOL、TACQOL、TAAQOL）。
结果
收集了 61 名荷兰患者（年龄 1-52 岁）的数据，并与可用的荷兰或美国参考人群进行了比较。在 PROMIS 问卷中，儿童报告的疲劳程度更高（P=0.044），上肢功能更差（P=0.021），认知困难更多（P=0.055，d=0.56），焦虑程度更高（P=0.063，d=0.52），尽管后者的结果仍然没有统计学意义。CG 患者的父母报告他们的孩子的同伴关系质量较低（P<0.001）。儿童和父母都报告在 TACQOL 上认知功能较低（P=0.005，P=0.010）。成年人在 PROMIS 域报告的认知功能较低（P=0.030），焦虑程度较高（P=0.004），疲劳程度较高（P=0.026）。成年人在 TAAQOL 上报告认知困难（P<0.001），以及身体、睡眠和社会困难。
结论
CG 仍然对儿科和成年患者的多个领域的 HRQoL 产生负面影响，包括认知、焦虑、运动功能和疲劳。父母主要报告较低的社会健康，而不是患者自己。新冠疫情可能放大了焦虑方面的结果，尽管较高的焦虑水平符合疫情前的发现。报告的疲劳是 CG 的一个新发现。由于封锁疲劳的影响无法消除，而疲劳是慢性疾病患者的常见症状，因此需要进一步研究。临床医生和研究人员应该关注儿科和成年患者，以及他们可能遇到的年龄相关困难。
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