Physical Medicine and Rehabilitation Unit, IRCCS - Istituto Ortopedico Rizzoli, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Department of Rare Skeletal Disorders, IRCCS - Istituto Ortopedico Rizzoli, Bologna, Italy.
Musculoskelet Sci Pract. 2023 Apr;64:102742. doi: 10.1016/j.msksp.2023.102742. Epub 2023 Mar 4.
Clinical-functional assessment of patients affected by Osteogenesis Imperfecta and Ehlers-Danlos Syndromes is essential for clinical management. However, there is no clear information on disease-specific tools of assessment for clinical practice, thus limiting quantification and management of the diseases-related impairments.
The present scoping review was aimed at investigating the most common clinical-functional features and assessment tools in individuals with Osteogenesis Imperfecta and Ehlers-Danlos Syndromes, and to provide an updated International Classification of Functioning (ICF) model related to functional impairments for each disease.
The literature revision was conducted on PubMed, Scopus and Embase databases. Articles reporting an ICF model of clinical-functional features and assessment tools for Osteogenesis Imperfecta and Ehlers-Danlos Syndromes individuals were included.
A total of 27 articles were included, 7 reporting an ICF model, and 20 reporting clinical-functional assessment tools. It was reported that patients with Osteogenesis Imperfecta and Ehlers-Danlos Syndromes show impairments in both Body Function and Structure, and Activities and Participation domains of the ICF. A heterogeneous number of assessment tools was found for both diseases regarding proprioception, pain, endurance to exercise, fatigue, balance and motor coordination, and mobility.
Patients with Osteogenesis Imperfecta and Ehlers-Danlos Syndromes show several impairments and limitations in Body Function and Structure, and Activities and Participation domains of the ICF. Thus, an appropriate and ongoing assessment of the disease-related impairments is necessary to improve clinical practice. Several functional tests and clinical scales can be used to assess the patients despite the heterogeneity of assessment tools found in previous literature.
对患有成骨不全症和埃勒斯-当洛斯综合征的患者进行临床-功能评估对于临床管理至关重要。然而，目前尚无针对临床实践的特定疾病评估工具的明确信息，因此限制了对疾病相关损伤的量化和管理。
本范围综述旨在调查成骨不全症和埃勒斯-当洛斯综合征患者最常见的临床-功能特征和评估工具，并为每种疾病提供与功能损伤相关的最新国际功能、残疾和健康分类（ICF）模型。
对 PubMed、Scopus 和 Embase 数据库进行文献综述。纳入报告成骨不全症和埃勒斯-当洛斯综合征患者临床-功能特征和评估工具的 ICF 模型的文章。
共纳入 27 篇文章，其中 7 篇报告了 ICF 模型，20 篇报告了临床-功能评估工具。报告称，成骨不全症和埃勒斯-当洛斯综合征患者在 ICF 的身体功能和结构以及活动和参与领域均存在损伤。对于本体感觉、疼痛、运动耐力、疲劳、平衡和运动协调以及移动性，两种疾病都发现了数量不同的评估工具。
成骨不全症和埃勒斯-当洛斯综合征患者在 ICF 的身体功能和结构以及活动和参与领域存在多种损伤和限制。因此，需要对疾病相关损伤进行适当和持续的评估，以改善临床实践。尽管先前文献中发现了评估工具的异质性，但仍可以使用多种功能测试和临床量表来评估患者。
