Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study

Ferreira, C. R. (2019). The burden of rare diseases. American Journal of Medical Genetics Part A, 179(6), 885–892. https://doi.org/10.1002/ajmg.a.61124

Article  PubMed  Google Scholar 

Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H., Hamosh, A., Baynam, G., Groza, T., McMurry, J., & Dawkins, H. (2020). How many rare diseases are there? Nature Reviews. Drug Discovery, 19(2), 77–78. https://doi.org/10.1038/d41573-019-00180-y

Article  CAS  PubMed  PubMed Central  Google Scholar 

Stoller, J. K. (2018). The challenge of rare diseases. Chest, 153(6), 1309–1314. https://doi.org/10.1016/j.chest.2017.12.018

Article  PubMed  Google Scholar 

Schieppati, A., Henter, J. I., Daina, E., & Aperia, A. (2008). Why rare diseases are an important medical and social issue. The Lancet, 371(9629), 2039–2041. https://doi.org/10.1016/S0140-6736(08)60872-7

Article  Google Scholar 

von der Lippe, C., Diesen, P. S., & Feragen, K. B. (2017). Living with a rare disorder: A systematic review of the qualitative literature. Molecular Genetics & Genomic Medicine, 5(6), 758–773. https://doi.org/10.1002/mgg3.315

Article  Google Scholar 

Bogart, K. R., & Irvin, V. L. (2017). Health-related quality of life among adults with diverse rare disorders. Orphanet Journal of Rare Diseases, 12(1), 177. https://doi.org/10.1186/s13023-017-0730-1

Article  PubMed  PubMed Central  Google Scholar 

Bogart, K., Hemmesch, A., Barnes, E., Blissenbach, T., Beisang, A., Engel, P., et al. (2022). Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases. Orphanet Journal of Rare Diseases, 17(1), 196. https://doi.org/10.1186/s13023-022-02343-4

Article  PubMed  PubMed Central  Google Scholar 

Mund, M., Uhlenbusch, N., Rillig, F., Weiler-Normann, C., Herget, T., Kubisch, C., The Chloe Barnes Advisory Council on Rare Diseases. (2023). Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: A cross-sectional study. Orphanet Journal of Rare Diseases, 18(1), 82. https://doi.org/10.1186/s13023-023-02669-7

Article  PubMed  PubMed Central  Google Scholar 

Bovée, J. V. (2008). Multiple osteochondromas. Orphanet Journal of Rare Diseases, 3(1), 3. https://doi.org/10.1186/1750-1172-3-3

Article  PubMed  PubMed Central  Google Scholar 

Pacifici, M. (2018). Hereditary multiple exostoses: Are there new plausible treatment strategies? Expert Opinion on Orphan Drugs, 6(6), 385–391. https://doi.org/10.1080/21678707.2018.1483232

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mordenti, M., Shih, F., Boarini, M., Pedrini, E., Gnoli, M., Antonioli, D., Tremosini, M., & Sangiorgi, L. (2020). The natural history of multiple osteochondromas in a large Italian cohort of pediatric patients. Bone, 139, 115499. https://doi.org/10.1016/j.bone.2020.115499

Article  PubMed  Google Scholar 

Clement, N. D., Duckworth, A. D., Baker, A. D. L., & Porter, D. E. (2012). Skeletal growth patterns in hereditary multiple exostoses: A natural history. Journal of Pediatric Orthopaedics B, 21(2), 150. https://doi.org/10.1097/BPB.0b013e32834dd21f

Article  Google Scholar 

Staal, H. M., Goud, A. L., van der Woude, H. J., Witlox, M. A., Ham, S. J., Robben, S. G. F., Dremmen, M. H., & van Rhijn, L. W. (2015). Skeletal maturity of children with multiple osteochondromas: Is diminished stature due to a systemic influence? Journal of Children’s Orthopaedics, 9(5), 397–402. https://doi.org/10.1007/s11832-015-0680-x

Article  PubMed  PubMed Central  Google Scholar 

EL-Sobky, T. A., Samir, S., Atiyya, A. N., Mahmoud, S., Aly, A. S., & Soliman, R. (2018). Current paediatric orthopaedic practice in hereditary multiple osteochondromas of the forearm: A systematic review. SICOT J, 4, 10. https://doi.org/10.1051/sicotj/2018002

Article  PubMed  PubMed Central  Google Scholar 

Trisolino, G., Boarini, M., Mordenti, M., Evangelista, A., Gallone, G., Stallone, S., Zarantonello, P., Antonioli, D., Di Gennaro, G. L., Stilli, S., & Sangiorgi, L. (2021). Outcomes of temporary hemiepiphyseal stapling for correcting genu valgum in children with multiple osteochondromas: A single institution study. Children (Basel), 8(4), 287. https://doi.org/10.3390/children8040287

Article  PubMed  Google Scholar 

Tepelenis, K., Papathanakos, G., Kitsouli, A., Troupis, T., Barbouti, A., Vlachos, K., Kanavaros, P., & Kitsoulis, P. (2021). Osteochondromas: An updated review of epidemiology, pathogenesis, clinical presentation, radiological features and treatment options. In Vivo, 35(2), 681–691. https://doi.org/10.21873/invivo.12308

Article  CAS  PubMed  PubMed Central  Google Scholar 

Almansa, J., Ayuso-Mateos, J. L., Garin, O., Chatterji, S., Kostanjsek, N., Alonso, J., Valderas, J. M., Cieza, A., Raggi, A., Svestkova, O., & Burger, H. (2011). The International Classification of Functioning, Disability and Health: Development of capacity and performance scales. Journal of Clinical Epidemiology, 64(12), 1400–1411. https://doi.org/10.1016/j.jclinepi.2011.03.005

Article  PubMed  Google Scholar 

Goud, A. L., de Lange, J., Scholtes, V. A. B., Bulstra, S. K., & Ham, S. J. (2012). Pain, physical and social functioning, and quality of life in individuals with multiple hereditary exostoses in The Netherlands: A national cohort study. Journal of Bone and Joint Surgery, 94(11), 1013–1020. https://doi.org/10.2106/JBJS.K.00406

Article  CAS  Google Scholar 

Chhina, H., Davis, J. C., & Alvarez, C. M. (2012). Health-related quality of life in people with hereditary multiple exostoses. Journal of Pediatric Orthopedics, 32(2), 210–214. https://doi.org/10.1097/BPO.0b013e31823ee31c

Article  PubMed  Google Scholar 

D’Ambrosi, R., Ragone, V., Caldarini, C., Serra, N., Usuelli, F. G., & Facchini, R. M. (2017). The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain. Archives of Orthopaedic and Trauma Surgery, 137(2), 209–215. https://doi.org/10.1007/s00402-016-2608-4

Article  PubMed  Google Scholar 

Bathen, T., Fredwall, S., Steen, U., & Svendby, E. B. (2019). Fatigue and pain in children and adults with multiple osteochondromas in Norway, a cross-sectional study. International Journal of Orthopaedic and Trauma Nursing, 34, 28–35. https://doi.org/10.1016/j.ijotn.2019.02.001

Article  PubMed  Google Scholar 

Caino, S., Alba, R., Bevilacqua, S., Roizen, M., Obregón, M. G., & Fano, V. (2022). Osteochondromatosis: Clinical variability and factors related to quality of life in children and adults. Archivos Argentinos de Pediatría, 120(3), 180–186. https://doi.org/10.5546/aap.2022.eng.180

Article  PubMed  Google Scholar 

Sundin Palmeira de Oliveira, N., Rocha Dias da Silva, M., & Bedeschi Rego de Mattos, C. (2023). Use of pediatric outcomes data collection instrument to evaluate functional outcomes in multiple hereditary exostoses. Journal of Pediatric Orthopaedics. https://doi.org/10.1097/BPO.0000000000002372

Article  PubMed  Google Scholar 

(1995). The World Health Organization quality of life assessment (WHOQOL): Position paper from the World Health Organization. Social Science & Medicine, 41(10), 1403–1409. https://doi.org/10.1016/0277-9536(95)00112-K

Wade, D. T., & Halligan, P. W. (2017). The biopsychosocial model of illness: A model whose time has come. Clinical Rehabilitation, 31(8), 995–1004. https://doi.org/10.1177/0269215517709890

Article  PubMed  Google Scholar 

Bize, R., Johnson, J. A., & Plotnikoff, R. C. (2007). Physical activity level and health-related quality of life in the general adult population: A systematic review. Preventive Medicine, 45(6), 401–415. https://doi.org/10.1016/j.ypmed.2007.07.017

Article  PubMed  Google Scholar 

Solans, M., Pane, S., Estrada, M. D., Serra-Sutton, V., Berra, S., Herdman, M., Alonso, J., & Rajmil, L. (2008). Health-related quality of life measurement in children and adolescents: A systematic review of generic and disease-specific instruments. Value in Health, 11(4), 742–764. https://doi.org/10.1111/j.1524-4733.2007.00293.x

Article  PubMed  Google Scholar 

Zhou, T., Guan, H., Wang, L., Zhang, Y., Rui, M., & Ma, A. (2021). Health-related quality of life in patients with different diseases measured with the EQ-5D-5L: A systematic review. Frontiers in Public Health. https://doi.org/10.3389/fpubh.2021.675523

Article  PubMed  PubMed Central  Google Scholar 

EuroQol Group. (1990). EuroQol—A new facility for the measurement of health-related quality of life. Health Policy, 16(3), 199–208. https://doi.org/10.1016/0168-8510(90)90421-9

Article  Google Scholar 

Devlin, N. J., & Brooks, R. (2017). EQ-5D and the EuroQol group: Past, present and future. Applied Health Economics and Health Policy, 15(2), 127–137. https://doi.org/10.1007/s40258-017-0310-5

Article  PubMed  PubMed Central  Google Scholar 

Wang, A., Rand, K., Yang, Z., Brooks, R., & Busschbach, J. (2022). The remarkably frequent use of EQ-5D in non-economic research. The European Journal of Health Economics, 23(6), 1007–1014. https://doi.org/10.1007/s10198-021-01411-z

Article  PubMed  Google Scholar 

Hageman, I. C., van Rooij, I. A. L. M., de Blaauw, I., Trajanovska, M., & King, S. K. (2023). A systematic overview of rare disease patient registries: Challenges in design, quality management, and maintenance. Orphanet Journal of Rare Diseases, 18(1), 106. https://doi.org/10.1186/s13023-023-02719-0

Article  PubMed  PubMed Central  Google Scholar 

Kennedy-Martin, M., Slaap, B., Herdman, M., van Reenen, M., Kennedy-Martin, T., Greiner, W., Busschbach, J., & Boye, K. S. (2020). Which multi-attribute utility instruments are recommended for use in cost-utility analysis? A review of national health technology assessment (HTA) guidelines. The European Journal of Health Economics, 21(8), 1245–1257. https://doi.org/10.1007/s10198-020-01195-8

Article  PubMed  PubMed Central  Google Scholar 

Sangiorgi, L. (2023). Registry of multiple osteochondromas that collects clinical, functional, genetic, genealogical, imaging, surgical, quality of life data. Data are linked to patients biological sample. clinicaltrials.gov. Report No.: NCT04133285. Retrieved May 25, 2023, from, https://clinicaltrials.gov/ct2/show/NCT04133285

von Elm, E., Altman, D. G., Egger, M., Pocock, S. J., Gøtzsche, P. C., Vandenbroucke, J. P., STROBE Initiative. (2014). The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: Guidelines for reporting observational studies. International Journal of Surgery, 12(12), 1495–1499. https://doi.org/10.1016/j.ijsu.2014.07.013

Article 

Comments (0)

No login
gif