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Erschienen in: Calcified Tissue International 5/2017

04.07.2017 | Original Research

Health-Related Quality of Life in Adults with Osteogenesis Imperfecta

verfasst von: Jannie Dahl Hald, Lars Folkestad, Torben Harsløf, Kim Brixen, Bente Langdahl

Erschienen in: Calcified Tissue International | Ausgabe 5/2017

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Abstract

Osteogenesis imperfecta (OI) is a systemic connective tissue disorder most often caused by mutations in collagen type 1 related genes. Patients with OI suffer from multiple fractures and various degrees of growth deficiency and bone deformity. It is unknown whether the systemic effect of defect collagen type 1 influences the quality of life in patients with OI. We therefore aimed to investigate health-related quality of life (HRQoL) in a well-characterized cohort of adult patients with OI. We included 85 adult patients with mild to severe OI (types I, III, and IV) and obtained information about skeletal- and non-skeletal phenotypes and patient demographics. We investigated physical and mental HRQoL using a validated questionnaire, SF-36, and compared the data to values obtained in a population without OI. Patients with mild, moderate, and severe OI all had lower mean scores on domains describing physical HRQoL and a lower mean physical component score compared to the general population, p < 0.001. Patients with severe OI had lower mean scores on physical HRQoL, p < 0.05. The scores on domains reflecting mental HRQoL were more inhomogenously affected, but did not differ significantly from the general population. OI has an impact on physical and some aspects of mental HRQoL. The scores on physical health were correlated to severity of the OI disease. The mental component score in the OI patients was unaffected and comparable with the general population.
Literatur
1.
3.
Zurück zum Zitat Folkestad L, Hald JD, Ersboll AK, Gram J, Hermann AP, Langdahl B, Abrahamsen B (2016) Brixen K. A Nationwide Register-Based Cohort Study. J Bone Miner Res, Fracture Rates and Fracture Sites in Patients With Osteogenesis Imperfecta, p 10 Folkestad L, Hald JD, Ersboll AK, Gram J, Hermann AP, Langdahl B, Abrahamsen B (2016) Brixen K. A Nationwide Register-Based Cohort Study. J Bone Miner Res, Fracture Rates and Fracture Sites in Patients With Osteogenesis Imperfecta, p 10
4.
Zurück zum Zitat van Dijk FS, Sillence DO (2014) Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 164A:1470–1481CrossRefPubMed van Dijk FS, Sillence DO (2014) Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 164A:1470–1481CrossRefPubMed
5.
Zurück zum Zitat Chevrel G, Meunier PJ (2001) Osteogenesis imperfecta: lifelong management is imperative and feasible. Joint Bone Spine 68:125–129CrossRefPubMed Chevrel G, Meunier PJ (2001) Osteogenesis imperfecta: lifelong management is imperative and feasible. Joint Bone Spine 68:125–129CrossRefPubMed
6.
Zurück zum Zitat Paterson CR, McAllion S, Stellman JL (1984) Osteogenesis imperfecta after the menopause. N Engl J Med 310:1694–1696CrossRefPubMed Paterson CR, McAllion S, Stellman JL (1984) Osteogenesis imperfecta after the menopause. N Engl J Med 310:1694–1696CrossRefPubMed
9.
Zurück zum Zitat Bishop N (2010) Characterising and treating osteogenesis imperfecta. Early Hum Dev 86:743–746CrossRefPubMed Bishop N (2010) Characterising and treating osteogenesis imperfecta. Early Hum Dev 86:743–746CrossRefPubMed
10.
Zurück zum Zitat Balkefors V, Mattsson E, Pernow Y, Saaf M (2013) Functioning and quality of life in adults with mild-to-moderate osteogenesis imperfecta. Physiother Res Int 18:203–211CrossRefPubMed Balkefors V, Mattsson E, Pernow Y, Saaf M (2013) Functioning and quality of life in adults with mild-to-moderate osteogenesis imperfecta. Physiother Res Int 18:203–211CrossRefPubMed
11.
Zurück zum Zitat Wekre LL, Froslie KF, Haugen L, Falch JA (2010) A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta. Disabil Rehabil 32:579–587CrossRefPubMed Wekre LL, Froslie KF, Haugen L, Falch JA (2010) A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta. Disabil Rehabil 32:579–587CrossRefPubMed
12.
Zurück zum Zitat Staquet M, Hays R, Fayers P (1998) Quality of life assessment in clinical trials; methods and practice. Oxford University Press, Oxford Staquet M, Hays R, Fayers P (1998) Quality of life assessment in clinical trials; methods and practice. Oxford University Press, Oxford
13.
Zurück zum Zitat Widmann RF, Laplaza FJ, Bitan FD, Brooks CE, Root L (2002) Quality of life in osteogenesis imperfecta. Int Orthop 26:3–6CrossRefPubMed Widmann RF, Laplaza FJ, Bitan FD, Brooks CE, Root L (2002) Quality of life in osteogenesis imperfecta. Int Orthop 26:3–6CrossRefPubMed
14.
Zurück zum Zitat Forestier-Zhang L, Watts L, Turner A, Teare H, Kaye J, Barrett J, Cooper C, Eastell R, Wordsworth P, Javaid MK, Pinedo-Villanueva R (2016) Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia. Orphanet J Rare Dis 11:160CrossRefPubMedPubMedCentral Forestier-Zhang L, Watts L, Turner A, Teare H, Kaye J, Barrett J, Cooper C, Eastell R, Wordsworth P, Javaid MK, Pinedo-Villanueva R (2016) Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia. Orphanet J Rare Dis 11:160CrossRefPubMedPubMedCentral
15.
Zurück zum Zitat han-Oliel N, Oliel S, Tsimicalis A, Montpetit K, Rauch F, Dogba MJ (2016) Quality of life in osteogenesis imperfecta: A mixed-methods systematic review. Am J Med Genet A 170:62–76CrossRef han-Oliel N, Oliel S, Tsimicalis A, Montpetit K, Rauch F, Dogba MJ (2016) Quality of life in osteogenesis imperfecta: A mixed-methods systematic review. Am J Med Genet A 170:62–76CrossRef
16.
Zurück zum Zitat Widmann RF, Bitan FD, Laplaza FJ, Burke SW, DiMaio MF, Schneider R (1999) Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta. Spine 24:1673–1678CrossRefPubMed Widmann RF, Bitan FD, Laplaza FJ, Burke SW, DiMaio MF, Schneider R (1999) Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta. Spine 24:1673–1678CrossRefPubMed
18.
Zurück zum Zitat Rauch F, Lalic L, Roughley P, Glorieux FH (2010) Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res 25:1367–1374PubMed Rauch F, Lalic L, Roughley P, Glorieux FH (2010) Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res 25:1367–1374PubMed
19.
Zurück zum Zitat Hald JD, Folkestad L, Harslof T, Lund AM, Duno M, Jensen JB, Neghabat S, Brixen K, Langdahl B (2016) Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure. Osteoporos Int 27(11):3331–3341CrossRefPubMed Hald JD, Folkestad L, Harslof T, Lund AM, Duno M, Jensen JB, Neghabat S, Brixen K, Langdahl B (2016) Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure. Osteoporos Int 27(11):3331–3341CrossRefPubMed
20.
Zurück zum Zitat Ware JE Jr, Sherbourne CD (1992) The MOS 36-item short-form health survey (SF-36). I. conceptual framework and item selection. Med Care 30:473–483CrossRefPubMed Ware JE Jr, Sherbourne CD (1992) The MOS 36-item short-form health survey (SF-36). I. conceptual framework and item selection. Med Care 30:473–483CrossRefPubMed
21.
Zurück zum Zitat Ware JE Jr, Kosinski M, Bayliss MS, McHorney CA, Rogers WH, Raczek A (1995) Comparison of methods for the scoring and statistical analysis of SF-36 health profile and summary measures: summary of results from the Medical Outcomes Study. Med Care 33:AS264–AS279CrossRefPubMed Ware JE Jr, Kosinski M, Bayliss MS, McHorney CA, Rogers WH, Raczek A (1995) Comparison of methods for the scoring and statistical analysis of SF-36 health profile and summary measures: summary of results from the Medical Outcomes Study. Med Care 33:AS264–AS279CrossRefPubMed
22.
Zurück zum Zitat Bjorner JB, Thunedborg K, Kristensen TS, Modvig J, Bech P (1998) The Danish SF-36 Health Survey: translation and preliminary validity studies. J Clin Epidemiol 51:991–999CrossRefPubMed Bjorner JB, Thunedborg K, Kristensen TS, Modvig J, Bech P (1998) The Danish SF-36 Health Survey: translation and preliminary validity studies. J Clin Epidemiol 51:991–999CrossRefPubMed
23.
Zurück zum Zitat Bjorner JB, Damsgaard MT, Watt T, Groenvold M (1998) Tests of data quality, scaling assumptions, and reliability of the Danish SF-36. J Clin Epidemiol 51:1001–1011CrossRefPubMed Bjorner JB, Damsgaard MT, Watt T, Groenvold M (1998) Tests of data quality, scaling assumptions, and reliability of the Danish SF-36. J Clin Epidemiol 51:1001–1011CrossRefPubMed
24.
Zurück zum Zitat Ablon J (2003) Personality and stereotype in osteogenesis imperfecta: behavioral phenotype or response to life’s hard challenges? Am J Med Genet A 122A:201–214CrossRefPubMed Ablon J (2003) Personality and stereotype in osteogenesis imperfecta: behavioral phenotype or response to life’s hard challenges? Am J Med Genet A 122A:201–214CrossRefPubMed
25.
Zurück zum Zitat Reite M, Davis K, Solomons C, Ott J (1972) Osteogenesis imperfecta: psychological function. Am J Psychiatry 128:1540–1546CrossRefPubMed Reite M, Davis K, Solomons C, Ott J (1972) Osteogenesis imperfecta: psychological function. Am J Psychiatry 128:1540–1546CrossRefPubMed
26.
Zurück zum Zitat Ose D, Rochon J, Campbell SM, Wensing M, Freund T, van LJ, Langst G, Szecsenyi J, Ludt S (2014) Health-related quality of life and risk factor control: the importance of educational level in prevention of cardiovascular diseases. Eur J Public Health 24:679–684CrossRefPubMed Ose D, Rochon J, Campbell SM, Wensing M, Freund T, van LJ, Langst G, Szecsenyi J, Ludt S (2014) Health-related quality of life and risk factor control: the importance of educational level in prevention of cardiovascular diseases. Eur J Public Health 24:679–684CrossRefPubMed
27.
Zurück zum Zitat de Putter CE, Selles RW, Haagsma JA, Polinder S, Panneman MJ, Hovius SE, Burdorf A, van Beeck EF (2014) Health-related quality of life after upper extremity injuries and predictors for suboptimal outcome. Injury 45(11):1752–1758CrossRefPubMed de Putter CE, Selles RW, Haagsma JA, Polinder S, Panneman MJ, Hovius SE, Burdorf A, van Beeck EF (2014) Health-related quality of life after upper extremity injuries and predictors for suboptimal outcome. Injury 45(11):1752–1758CrossRefPubMed
28.
Zurück zum Zitat Peric’ S, Rakocevic-Stojanovic V, Stevic Z, Basta I, Pavlovic S, Vujanac V, Marjanovic L, Lavrnic D (2010) Health-related quality of life in patients with myotonic dystrophy type 1 and amyotrophic lateral sclerosis. Acta Neurol Belg 110:71–77PubMed Peric’ S, Rakocevic-Stojanovic V, Stevic Z, Basta I, Pavlovic S, Vujanac V, Marjanovic L, Lavrnic D (2010) Health-related quality of life in patients with myotonic dystrophy type 1 and amyotrophic lateral sclerosis. Acta Neurol Belg 110:71–77PubMed
29.
Zurück zum Zitat Al-Shehri AH, Taha AZ, Bahnassy AA, Salah M (2008) Health-related quality of life in type 2 diabetic patients. Ann Saudi Med 28:352–360CrossRefPubMed Al-Shehri AH, Taha AZ, Bahnassy AA, Salah M (2008) Health-related quality of life in type 2 diabetic patients. Ann Saudi Med 28:352–360CrossRefPubMed
30.
Zurück zum Zitat van der Slot WM, Nieuwenhuijsen C, van den Berg-Emons RJ, Wensink-Boonstra AE, Stam HJ, Roebroeck ME (2010) Participation and health-related quality of life in adults with spastic bilateral cerebral palsy and the role of self-efficacy. J Rehabil Med 42:528–535CrossRefPubMed van der Slot WM, Nieuwenhuijsen C, van den Berg-Emons RJ, Wensink-Boonstra AE, Stam HJ, Roebroeck ME (2010) Participation and health-related quality of life in adults with spastic bilateral cerebral palsy and the role of self-efficacy. J Rehabil Med 42:528–535CrossRefPubMed
31.
Zurück zum Zitat Bertoletti J, Marx GC, Hattge Junior SP, Pellanda LC (2014) Quality of life and congenital heart disease in childhood and adolescence. Arq Bras Cardiol 102:192–198PubMedPubMedCentral Bertoletti J, Marx GC, Hattge Junior SP, Pellanda LC (2014) Quality of life and congenital heart disease in childhood and adolescence. Arq Bras Cardiol 102:192–198PubMedPubMedCentral
32.
Zurück zum Zitat Albrecht GL, Devlieger PJ (1999) The disability paradox: high quality of life against all odds. Soc Sci Med 48:977–988CrossRefPubMed Albrecht GL, Devlieger PJ (1999) The disability paradox: high quality of life against all odds. Soc Sci Med 48:977–988CrossRefPubMed
33.
Metadaten
Titel
Health-Related Quality of Life in Adults with Osteogenesis Imperfecta
verfasst von
Jannie Dahl Hald
Lars Folkestad
Torben Harsløf
Kim Brixen
Bente Langdahl
Publikationsdatum
04.07.2017
Verlag
Springer US
Erschienen in
Calcified Tissue International / Ausgabe 5/2017
Print ISSN: 0171-967X
Elektronische ISSN: 1432-0827
DOI
https://doi.org/10.1007/s00223-017-0301-4

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