Department of Rehabilitation Medicine, Amsterdam Movement Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Center of Expertise Urban Vitality, Faculty of Health, Amsterdam University of Applied Sciences, Tafelbergweg 51, 1105 BD Amsterdam, The Netherlands.
Genes (Basel). 2021 May 28;12(6):831. doi: 10.3390/genes12060831.
Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated questionnaires.
This observational, multicenter study included 107 children, aged 4-18 years, with Marfan syndrome (MFS), 58%; Loeys-Dietz syndrome (LDS), 7%; Ehlers-Danlos syndromes (EDS), 8%; and hypermobile Ehlers-Danlos syndrome (hEDS), 27%. The assessments included PROMIS Fatigue Parent-Proxy and Pediatric self-report, pain and general health Visual-Analogue-Scales (VAS) and a Childhood Health Assessment Questionnaire (CHAQ).
Compared to normative data, the total HCTD-group showed significantly higher parent-rated fatigue T-scores ( = 53 ( = 12), = 0.004, = 0.3), pain VAS scores ( = 2.8 ( = 3.1), < 0.001, = 1.27), general health VAS scores ( = 2.5 ( = 1.8), < 0.001, = 2.04) and CHAQ disability index scores ( = 0.9 ( = 0.7), < 0.001, = 1.23). HCTD-subgroups showed similar results. The most adverse sequels were reported in children with hEDS, whereas the least were reported in those with MFS. Disability showed significant relationships with fatigue ( < 0.001, = 0.68), pain ( < 0.001, = 0.64) and general health ( < 0.001, = 0.59).
Compared to normative data, children and adolescents with HCTD reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. This new knowledge calls for systematic monitoring with standardized validated questionnaires, physical assessments and tailored interventions in clinical care.
遗传性结缔组织疾病（HCTD）在儿童时期可出现身体特征重叠。目前尚不清楚 HCTD 患儿的疾病负担程度。本研究旨在使用标准化验证问卷来量化疲劳、疼痛、残疾和总体健康状况。
这项观察性、多中心研究纳入了 107 名年龄在 4-18 岁的儿童，包括马凡综合征（MFS）患儿 58%、Loeys-Dietz 综合征（LDS）患儿 7%、埃勒斯-当洛斯综合征（EDS）患儿 8%和高活动度埃勒斯-当洛斯综合征（hEDS）患儿 27%。评估内容包括 PROMIS 疲劳父母代理和儿科自我报告、疼痛和总体健康状况视觉模拟量表（VAS）以及儿童健康评估问卷（CHAQ）。
与常模数据相比，HCTD 总组的父母报告疲劳 T 评分明显更高（ = 53（ = 12）， = 0.004， = 0.3）、疼痛 VAS 评分（ = 2.8（ = 3.1）， < 0.001， = 1.27）、总体健康 VAS 评分（ = 2.5（ = 1.8）， < 0.001， = 2.04）和 CHAQ 残疾指数评分（ = 0.9（ = 0.7）， < 0.001， = 1.23）。HCTD 各亚组的结果相似。hEDS 患儿报告的不良后果最严重，而 MFS 患儿报告的不良后果最少。残疾与疲劳（ < 0.001， = 0.68）、疼痛（ < 0.001， = 0.64）和总体健康（ < 0.001， = 0.59）显著相关。
与常模数据相比，HCTD 患儿和青少年报告疲劳、疼痛、残疾增加，总体健康状况下降，其中大部分差异转化为非常大的效应。这一新知识需要通过标准化验证问卷、身体评估和量身定制的干预措施在临床护理中进行系统监测。
