Clinical-functional features of individuals with Osteogenesis Imperfecta and Ehlers-Danlos syndromes: A scoping review of assessment tools and ICF model

Background: 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.

Objective: 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.

Methods: 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.

Results: 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.

Conclusion: 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.