背景:超移动Ehlers-Danlos综合征(hEDS)和高移动频谱障碍(HSD)是一种使人衰弱的疾病。诊断目前在缺乏生物标志物的情况下是临床的,为成人制定的标准很难在儿童和生物学不成熟的青少年中使用。广义关节高迁移率(GJH)是hEDS和广义HSD的先决条件。当前文献使用Beighton评分≥4或5/9(成人GJH的截止值)将很大一部分儿童确定为超动儿童。2017hEDS标准的其他表型特征可能会随着时间的推移而出现。最后,hEDS/HSD中描述的许多合并症也见于一般儿科和青少年人群.因此,需要儿科的具体标准.EDS和HSD国际联合会的儿科工作组已经开发了此处介绍的儿科诊断框架。这项工作是通过对已发表证据的审查得出的。
方法:该框架有4个组件,GJH,皮肤和组织异常,肌肉骨骼并发症,和核心合并症。Beighton评分≥6/9最好将GJH的儿童识别为高于平均水平2个标准偏差,根据公布的一般人口数据。皮肤和软组织变化包括柔软的皮肤,有弹性的皮肤,萎缩性疤痕,妊娠纹,压电性丘疹,和复发性疝.同意两个有症状组:肌肉骨骼和全身。讨论了新兴的共病关系。该框架生成8个子组,4儿科GJH,和4种儿科广泛性高迁移率谱系障碍。hEDS适用于符合2017年标准的生物成熟青少年,这也涵盖了更罕见的Ehlers-Danlos综合征在任何年龄。
结论:该框架允许将高流动性儿童分为一组,描述他们的表型和症状表现。它澄清了以下建议:应使用其当前国际公认的框架来定义合并症。这为改善该人群的临床护理和研究质量提供了基础。
Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the absence of biomarkers, and criteria developed for adults are difficult to use in children and biologically immature adolescents. Generalized joint hypermobility (GJH) is a prerequisite for hEDS and generalized HSD. Current literature identifies a large proportion of children as hypermobile using a Beighton score ≥ 4 or 5/9, the cut off for GJH in adults. Other phenotypic features from the 2017 hEDS criteria can arise over time. Finally, many comorbidities described in hEDS/HSD are also seen in the general pediatric and adolescent population. Therefore, pediatric specific criteria are needed. The Paediatric Working Group of the International Consortium on EDS and HSD has developed a pediatric diagnostic framework presented here. The work was informed by a
review of the published evidence.
The framework has 4 components, GJH, skin and tissue abnormalities, musculoskeletal complications, and core comorbidities. A Beighton score of ≥ 6/9 best identifies children with GJH at 2 standard deviations above average, based on published general population data. Skin and soft tissue changes include soft skin, stretchy skin, atrophic scars, stretch marks, piezogenic papules, and recurrent hernias. Two symptomatic groups were agreed: musculoskeletal and systemic. Emerging comorbid relationships are discussed. The framework generates 8 subgroups, 4 pediatric GJH, and 4 pediatric generalized hypermobility spectrum disorders. hEDS is reserved for biologically mature adolescents who meet the 2017 criteria, which also covers even rarer types of Ehlers-Danlos syndrome at any age.
This framework allows hypermobile children to be categorized into a group describing their phenotypic and symptomatic presentation. It clarifies the recommendation that comorbidities should be defined using their current internationally accepted frameworks. This provides a foundation for improving clinical care and research quality in this population.