Macquarie University, 75 Talavera Rd, Sydney, NSW, 2109, Australia.
Great Ormond Street Institute of Child Health, University College London, London, UK.
Orphanet J Rare Dis. 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2.
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.
过度活动型埃勒斯-当洛斯综合征（hEDS）和过度活动谱障碍（HSD）是使人虚弱的病症。目前缺乏生物标志物，诊断仍依赖临床，为成人制定的标准在儿童和未完全发育成熟的青少年中难以使用。全身关节过度活动（GJH）是 hEDS 和广义 HSD 的前提条件。目前的文献表明，使用 Beighton 评分≥4 或 5/9（成人 GJH 的截断值）可确定很大一部分儿童为过度活动。随着时间的推移，2017 年 hEDS 标准中的其他表型特征可能会出现。最后，在 hEDS/HSD 中描述的许多合并症也可见于一般儿科和青少年人群。因此，需要制定特定于儿科的标准。国际 EDS 和 HSD 联合组织的儿科工作组制定了这里提出的儿科诊断框架。这项工作是基于对已发表证据的审查。
该框架有 4 个组成部分，即 GJH、皮肤和组织异常、肌肉骨骼并发症和核心合并症。根据已发表的一般人群数据，Beighton 评分≥6/9 可最好地确定平均标准差以上的儿童存在 GJH。皮肤和软组织改变包括皮肤柔软、皮肤弹性大、萎缩性瘢痕、妊娠纹、 piezo 性丘疹和复发性疝。商定了两个有症状的组：肌肉骨骼和全身。讨论了新兴的合并症关系。该框架产生了 8 个子组，4 个儿科 GJH 和 4 个儿科广义过度活动谱障碍。hEDS 保留给符合 2017 年标准的生物学成熟青少年，该标准也涵盖了任何年龄更罕见的埃勒斯-当洛斯综合征类型。
该框架允许将过度活动的儿童归类为描述其表型和症状表现的一组。它澄清了建议，即应使用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。
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