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

Balkefors, 2013, Functioning and quality of life in adults with mild-to-moderate osteogenesis imperfecta, Physiother. Res. Int., 18, 203, 10.1002/pri.1546 Bénistan, 2019, Pain in hypermobile Ehlers Danlos syndrome: new insights using new criteria, Am. J. Med. Genet., 179, 1226 Celletti, 2012, Relationship between fatigue and gait abnormality in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type, Res. Dev. Disabil., 33, 1914, 10.1016/j.ridd.2012.06.018 Celletti, 2013, Use of the Gait Profile Score for the evaluation of patients with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type, Res. Dev. Disabil., 34, 4280, 10.1016/j.ridd.2013.09.019 Coêlho G, Luiz LC, Castro LC, De David AC. Postural balance, handgrip strength and mobility in Brazilian children and adolescents with osteogenesis imperfecta. J Ped DOI: 10.1016/j.jped.2020.05.003. Copetti, 2019, Severity classes in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients, Rheumatol, 58, 1722 Dahan-Oliel, 2016, Adolescents with disabilities participate in the shopping mall: facilitators and barriers framed according to the ICF, Disabil. Rehabil., 38, 2102, 10.3109/09638288.2015.1114033 De Baets, 2021, Patient perspectives on employment participation in the "hypermobile Ehlers-Danlos syndrome, Disabil. Rehabil., 43, 668, 10.1080/09638288.2019.1636316 Engelbert, 2017, The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome, Am J Med Genet C Semin Med Genet, 175, 158, 10.1002/ajmg.c.31545 Forlino, 2016, Osteogenesis imperfecta, Lancet, 387, 1657, 10.1016/S0140-6736(15)00728-X Garganta, 2018, Cyclic bisphosphonate therapy reduces pain and improves physical functioning in children with osteogenesis imperfecta, BMC Muscoskel. Disord., 19, 1 Graf, 2009, Gait characteristics and functional assessment of children with type I osteogenesis imperfecta, J. Orthop. Res., 27, 1182, 10.1002/jor.20871 Harsevoort, 2020, Fatigue in adults with osteogenesis imperfecta, BMC Muscoskel. Disord., 21, 1 Ireland, 2021, Development of the screening tool for everyday mobility and symptoms (STEMS) for skeletal dysplasia, Orphanet J. Rare Dis., 16, 1, 10.1186/s13023-021-01681-z Johannessen, 2016, Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers–Danlos syndrome-hypermobility type, Disabil. Rehabil., 38, 1382, 10.3109/09638288.2015.1102336 Kalisch, 2020, Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome, Disabil. Rehabil., 42, 3679, 10.1080/09638288.2019.1608595 Kruger, 2019, Mobility in osteogenesis imperfecta: a multicenter North American study, Genet. Med., 21, 2311, 10.1038/s41436-019-0491-4 Löwing, 2007, Effect of intravenous pamidronate therapy on everyday activities in children with osteogenesis imperfecta, Acta Paed, 96, 1180, 10.1111/j.1651-2227.2007.00390.x Malfait, 2017, The 2017 international classification of the Ehlers-Danlos syndromes, Am J Med Genet C Semin Med Genet, 175, 8, 10.1002/ajmg.c.31552 Malfait, 2020, The ehlers–danlos syndromes, Nat. Rev. Dis. Prim., 6, 64, 10.1038/s41572-020-0194-9 Methley, 2014, PICO, PICOS and SPIDER: a comparison study of specificity and sensitivity in three search tools for qualitative systematic reviews, BMC Health Serv. Res., 14, 579, 10.1186/s12913-014-0579-0 Mueller, 2018, Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta, Orphanet J. Rare Dis., 13, 158, 10.1186/s13023-018-0905-4 Murali, 2020, Pediatric outcomes data collection instrument is a useful patient-reported outcome measure for physical function in children with osteogenesis imperfecta, Gen. Med., 22, 581 Muriello, 2018, Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes, Am. J. Med. Genet., 176, 1858, 10.1002/ajmg.a.40371 Nghiem, 2017, Pain experiences of children and adolescents with osteogenesis imperfecta, Clin. J. Pain, 33, 271, 10.1097/AJP.0000000000000395 Nijhuis, 2021, Standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta, Orphanet J. Rare Dis., 16, 1, 10.1186/s13023-021-01682-y Orlando, 2021, Physical function in UK adults with osteogenesis imperfecta: a cross-sectional analysis of the RUDY study, Osteoporos. Int., 32, 157, 10.1007/s00198-020-05537-3 Palomo, 2017, Osteogenesis imperfecta: diagnosis and treatment, Curr. Opin. Endocrinol. Diabetes Obes., 24, 381, 10.1097/MED.0000000000000367 Peters, 2015, Methodology for JBI scoping reviews, 3 Remvig, 2014, Lack of consensus on tests and criteria for generalized joint hypermobility, Ehlers–Danlos syndrome: hypermobile type and joint hypermobility syndrome, Am. J. Med. Genet., 164, 591, 10.1002/ajmg.a.36402 Rombaut, 2012, Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome, Arthritis Care Res., 64, 1584, 10.1002/acr.21726 Scheper, 2013, Children with generalised joint hypermobility and musculoskeletal complaints: state of the art on diagnostics, clinical characteristics, and treatment, BioMed Res, 10.1155/2013/121054 Scheper, 2016, Disability in adolescents and adults diagnosed with hypermobility-related disorders: a meta-analysis, Arch. Phys. Med. Rehabil., 97, 2174, 10.1016/j.apmr.2016.02.015 Schubert-Hjalmarsson, 2012, Pain, balance, activity, and participation in children with hypermobility syndrome, Pediatr. Phys. Ther., 24, 339, 10.1097/PEP.0b013e318268e0ef Smith, 2013, Do people with benign joint hypermobility syndrome (BJHS) have reduced joint proprioception? A systematic review and meta-analysis, Rheumatol. Int., 33, 2709, 10.1007/s00296-013-2790-4 Tolboom, 2004, Osteogenesis imperfecta in childhood: effects of spondylodesis on functional ability, ambulation and perceived competence, Eur. Spine J., 13, 108, 10.1007/s00586-003-0574-3 Tricco, 2018, PRISMA extension for scoping reviews (PRISMA-ScR): checklist and explanation, Ann. Intern. Med., 169, 467, 10.7326/M18-0850 Voermans, 2011, Fatigue is associated with muscle weakness in Ehlers-Danlos syndrome: an explorative study, Physiotherapy, 97, 170, 10.1016/j.physio.2010.06.001