{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T23:25:04Z","timestamp":1781047504247,"version":"3.54.1"},"reference-count":44,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:00:00Z","timestamp":1761177600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:00:00Z","timestamp":1761177600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Osteogenesis imperfecta (OI) is a group of connective tissue disorders characterized by bone fragility and frequent fractures. The purpose of this study was to better understand the mental health burden, physical functioning, and health-related quality of life (HRQoL) in adults with OI in order to improve long-term care for this patient population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>26 individuals with OI were enrolled into this cross-sectional study at the Hospital for Special Surgery in New York, NY and completed all questionnaires, which included demographics, medical history, depression (PHQ-8), anxiety (GAD-7), pain catastrophizing (PCS), activities of daily living (HAQ-DI), grit (12-item Grit Scale), and HRQoL (SF-36 and PROMIS-29).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      11.5% of participants reported clinically significant symptoms of depression (PHQ-8 score \u226510) and 7.8% reported clinically significant symptoms of anxiety (GAD-7\u2009\u2265\u200910). A prior psychiatric illness was reported by 57.7%. There was no difference in the level of pain catastrophizing in our cohort compared the general U.S. population (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.363). Compared to the general population, individuals with OI had higher scores on the HAQ-DI (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001). Individuals with OI also reported significantly higher levels of resilience on the Grit Scale compared to the general population (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001). Individuals with OI had significantly lower scores on both HRQoL measures in terms of physical functioning domains (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001), but no significant difference compared to the general population across mental health domains.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These findings suggest that individuals with OI may not necessarily experience a greater mental health burden compared to the general population despite lower scores in areas of physical functioning. We speculate this discrepancy between mental and physical health scores may be partially explained by their increased resilience. Altogether, a comprehensive approach to care that recognizes all aspects of living with OI, including pain, social functioning, and daily activities, is needed when caring for individuals with OI.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-025-04073-9","type":"journal-article","created":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T10:17:53Z","timestamp":1761214673000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Health-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study"],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7333-9859","authenticated-orcid":false,"given":"Chloe E.","family":"Derocher","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack E.","family":"Mulcrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin M.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathleen L.","family":"Raggio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,10,23]]},"reference":[{"key":"4073_CR1","doi-asserted-by":"crossref","unstructured":"Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377\u201385.","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"4073_CR2","doi-asserted-by":"crossref","unstructured":"Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16(2):101\u201316.","DOI":"10.1136\/jmg.16.2.101"},{"key":"4073_CR3","doi-asserted-by":"crossref","unstructured":"Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2011;7(9):540\u201357.","DOI":"10.1038\/nrendo.2011.81"},{"key":"4073_CR4","doi-asserted-by":"crossref","unstructured":"Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;164A(6):1470\u201381.","DOI":"10.1002\/ajmg.a.36545"},{"key":"4073_CR5","doi-asserted-by":"crossref","unstructured":"Swezey T, Reeve BB, Hart TS, et al. Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. Osteoporos Int. 2019;30(2):507\u201311.","DOI":"10.1007\/s00198-018-4690-7"},{"key":"4073_CR6","doi-asserted-by":"crossref","unstructured":"Rodriguez Celin M, Kruger KM, Caudill A, et al. A multicenter study to evaluate pain characteristics in osteogenesis imperfecta. Am J Med Genet A. 2023;191(1):160\u201372.","DOI":"10.1002\/ajmg.a.63009"},{"key":"4073_CR7","doi-asserted-by":"crossref","unstructured":"Shepherd WS, Wiese AD, Cho HE, et al. Psychosocial outcomes of pain and pain management in adults with osteogenesis imperfecta: a qualitative study. J Clin Psychol Med Settings. 2024;31(3):614\u201327.","DOI":"10.1007\/s10880-023-09991-z"},{"key":"4073_CR8","doi-asserted-by":"crossref","unstructured":"Widmann RF, Laplaza FJ, Bitan FD, Brooks CE, Root L. Quality of life in osteogenesis imperfecta. Int Orthop. 2002;26(1):3\u20136.","DOI":"10.1007\/s002640100292"},{"key":"4073_CR9","doi-asserted-by":"crossref","unstructured":"Gooijer K, Harsevoort AGJ, van Dijk Fs, Withaar HR, Janus GJM, Franken AAM. A baseline measurement of quality of life in 322 adults with osteogenesis imperfecta. JBMR Plus. 2020;4(12):e10416.","DOI":"10.1002\/jbm4.10416"},{"key":"4073_CR10","doi-asserted-by":"crossref","unstructured":"Tosi LL, Oetgen ME, Floor MK, et al. Initial report of the osteogenesis imperfecta adult natural history initiative. Orphanet J Rare Dis. 2015;10:146.","DOI":"10.1186\/s13023-015-0362-2"},{"key":"4073_CR11","doi-asserted-by":"crossref","unstructured":"van Welzenis T, Westerheim I, Hart T, et al. The IMPACT survey: the humanistic impact of osteogenesis imperfecta in adults. BMC Public Health. 2024;24(1):3318.","DOI":"10.1186\/s12889-024-20555-0"},{"key":"4073_CR12","doi-asserted-by":"crossref","unstructured":"Fagereng E, Htwe S, McDonald S, Derocher C, et al. Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study. Orphanet J Rare Dis. 2025;20(1):116.","DOI":"10.1186\/s13023-025-03610-w"},{"key":"4073_CR13","doi-asserted-by":"crossref","unstructured":"Hays RD, Morales LS. The RAND-36 measure of health-related quality of life. Ann Med. 2001;33(5):350-7.","DOI":"10.3109\/07853890109002089"},{"key":"4073_CR14","doi-asserted-by":"crossref","unstructured":"Yonko EA, Emanuel JS, Carter EM, Raggio CL. Quality of life in adults with achondroplasia in the United States. Am J Med Genet A. 2021;185(3):695\u2013701.","DOI":"10.1002\/ajmg.a.62018"},{"key":"4073_CR15","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1186\/1750-1172-2-10","volume":"2","author":"H Johansen","year":"2007","unstructured":"Johansen H, Andersen I, Naess EE, Hagen KB. Health of adults with short stature: a comparison with the normal population and one well-known chronic disease (rheumatoid arthritis). Orphanet J Rare Dis. 2007;2:10.","journal-title":"Orphanet J Rare Dis"},{"key":"4073_CR16","unstructured":"Wright MJ, Thompson S, Shakespear TW. The restricted growth experience, quality of life, and barriers to participation. In: platform presentation at the International Skeletal Dysplasia Society. Albi, France; 2007."},{"key":"4073_CR17","doi-asserted-by":"crossref","unstructured":"Mahomed NN, Spellman M, Goldberg MJ. Functional health status of adults with achondroplasia. Am J Med Genet. 1997;78:30\u201335.","DOI":"10.1002\/(SICI)1096-8628(19980616)78:1<30::AID-AJMG7>3.0.CO;2-P"},{"key":"4073_CR18","doi-asserted-by":"crossref","unstructured":"Matsushita M, Kitoh H, Mishima K, Yamashita S, Haga N, Fujiwara S, \u2026 Ishiguro N. Physical, mental, and social problems of adolescent and adult patients with achondroplasia. Calcif Tissue Int. 2019;104:364\u201372.","DOI":"10.1007\/s00223-019-00518-z"},{"key":"4073_CR19","doi-asserted-by":"crossref","unstructured":"Hunter AGW. Some psychosocial aspects of nonlethal chondrodysplasias: I. Assessment using a life-styles questionnaire. Am J Med Genet. 1998;78:9\u201312.","DOI":"10.1002\/(SICI)1096-8628(19980616)78:1<9::AID-AJMG2>3.3.CO;2-U"},{"key":"4073_CR20","doi-asserted-by":"crossref","unstructured":"Hunter AGW. Some psychosocial aspects of nonlethal chondrodysplasias: II. Depression and anxiety. Am J Med Genet. 1998;78:9\u201312.","DOI":"10.1002\/(SICI)1096-8628(19980616)78:1<9::AID-AJMG2>3.3.CO;2-U"},{"key":"4073_CR21","doi-asserted-by":"publisher","unstructured":"Alves I, Fernandes O, Castro MA, Tavares S. Physical activity and psychosocial outcomes in adults with achondroplasia: an exploratory study. Int J Environ Res Public Health. 2024, Aug, 31;21(9):1160. https:\/\/doi.org\/10.3390\/ijerph21091160.","DOI":"10.3390\/ijerph21091160"},{"key":"4073_CR22","doi-asserted-by":"crossref","unstructured":"Matsushita M, Mishima K, Kamiya Y, Haga N, Fujiwara S, Ozono K, Kubota T, Kitaoka T, Imagama S, Kitoh H. Health-related quality of life in adult patients with multiple epiphyseal dysplasia and spondyloepiphyseal dysplasia. Prog Rehabil Med. 2021, Dec, 7;6:20210048.","DOI":"10.2490\/prm.20210048"},{"key":"4073_CR23","doi-asserted-by":"crossref","unstructured":"Majoor BCJ, Andela CD, Quispel CR, Rotman M, Dijkstra PDS, Hamdy NAT, Kaptein AA, Appelman-Dijkstra NM. Illness perceptions are associated with quality of life in patients with fibrous dysplasia. Calcif Tissue Int. 2018, Jan;102(1):23\u201331.","DOI":"10.1007\/s00223-017-0329-5"},{"key":"4073_CR24","doi-asserted-by":"crossref","unstructured":"Hays RD, Spritzer KL, Schalet BD, Cella D. PROMIS\u00ae-29 v2. 0 profile physical and mental health summary scores. Qual Life Res. 2018;27(7):1885\u201391.","DOI":"10.1007\/s11136-018-1842-3"},{"key":"4073_CR25","unstructured":"PROMIS\u00ae. 2023. https:\/\/www.healthmeasures.net\/explore-measurement-systems\/promis. Accessed 28 Aug 2025."},{"key":"4073_CR26","doi-asserted-by":"crossref","unstructured":"Kumban W, Kanlayanaphotporn R, Khutok K. Comparative responsiveness of the PROMIS-29 and SF-36 instruments in individuals with chronic musculoskeletal pain. J Orthop Sci. 2025, Jul;30(4):704\u201310.","DOI":"10.1016\/j.jos.2024.09.004"},{"key":"4073_CR27","doi-asserted-by":"crossref","unstructured":"Chen CX, Kroenke K, Stump T, Kean J, Krebs EE, Bair MJ, et al. Comparative responsiveness of the PROMIS pain interference short forms with legacy pain measures: results from three randomized clinical trials. J Pain. 2019, Jun;20(6):664e75.","DOI":"10.1016\/j.jpain.2018.11.010"},{"issue":"4","key":"4073_CR28","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1037\/1040-3590.7.4.524","volume":"7","author":"MJL Sullivan","year":"1995","unstructured":"Sullivan MJL, Bishop SR, Pivik J. The pain catastrophizing scale: development and validation. Psychol Assess. 1995;7(4):524\u201332.","journal-title":"Psychol Assess"},{"issue":"10","key":"4073_CR29","doi-asserted-by":"publisher","first-page":"1092","DOI":"10.1001\/archinte.166.10.1092","volume":"166","author":"RL Spitzer","year":"2006","unstructured":"Spitzer RL, Kroenke K, Williams JB, L\u00f6we B. A brief measure for assessing generalized anxiety disorder: the GAD-7. Arch Intern Med. 2006;166(10):1092\u201397.","journal-title":"Arch Intern Med"},{"issue":"1\u20133","key":"4073_CR30","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1016\/j.jad.2008.06.026","volume":"114","author":"K Kroenke","year":"2009","unstructured":"Kroenke K, Strine TW, Spitzer RL, Williams JB, Berry JT, Mokdad AH. The PHQ-8 as a measure of current depression in the general population. J Affect Disord. 2009;114(1\u20133):163\u201373.","journal-title":"J Affect Disord"},{"issue":"1","key":"4073_CR31","first-page":"167","volume":"30","author":"B Bruce","year":"2003","unstructured":"Bruce B, Fries JF. The Stanford Health Assessment Questionnaire: a review of its history, issues, progress, and documentation. J Rheumatol. 2003;30(1):167\u201378.","journal-title":"J Rheumatol"},{"issue":"6","key":"4073_CR32","doi-asserted-by":"publisher","first-page":"1087","DOI":"10.1037\/0022-3514.92.6.1087","volume":"92","author":"AL Duckworth","year":"2007","unstructured":"Duckworth AL, Peterson C, Matthews MD, Kelly DR. Grit: perseverance and passion for long-term goals. J Pers Soc Psychol. 2007;92(6):1087\u2013101.","journal-title":"J Pers Soc Psychol"},{"issue":"2","key":"4073_CR33","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","volume":"42","author":"PA Harris","year":"2009","unstructured":"Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap)-a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inf. 2009;42(2):377\u201381.","journal-title":"J Biomed Inf"},{"key":"4073_CR34","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.jbi.2019.103208","volume":"95","author":"PA Harris","year":"2019","unstructured":"Harris PA, Taylor R, Minor BL, et al. The REDCap consortium: building an international community of software platform partners. J Biomed Inf. 2019;95:103\u2013208.","journal-title":"J Biomed Inf"},{"issue":"4","key":"4073_CR35","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1023\/A:1005548801037","volume":"23","author":"A Osman","year":"2000","unstructured":"Osman A, Barrios FX, Gutierrez PM, Kopper BA, Merrifield T, Grittmann L. The pain catastrophizing scale: further psychometric evaluation with adult samples. J Behav Med. 2000;23(4):351\u201365.","journal-title":"J Behav Med"},{"issue":"3","key":"4073_CR36","doi-asserted-by":"publisher","first-page":"953","DOI":"10.1002\/art.20048","volume":"50","author":"E Krishnan","year":"2004","unstructured":"Krishnan E, Sokka T, H\u00e4kkinen A, Hubert H, Hannonen P. Normative values for the Health Assessment Questionnaire Disability Index: benchmarking disability in the general population. Arthritis Rheum. 2004;50(3):953\u201360.","journal-title":"Arthritis Rheum"},{"key":"4073_CR37","first-page":"1","volume":"415","author":"JW Lucas","year":"2021","unstructured":"Lucas JW, Connor EM, Bose J. Back, lower limb, and upper limb pain among U.S. adults, 2019. NCHS Data Brief. 2021;415:1\u20138.","journal-title":"NCHS Data Brief"},{"issue":"1","key":"4073_CR38","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1016\/j.jped.2022.07.002","volume":"99","author":"PAF Carvalho","year":"2023","unstructured":"Carvalho PAF, Regis TS, Fai\u00e7al AVB, Rmrds L, Terse-Ramos R, Acosta AX. Functional status of individuals with osteogenesis imperfecta: data from a reference center. J Pediatr (rio J). 2023;99(1):94\u201398.","journal-title":"J Pediatr (rio J)"},{"key":"4073_CR39","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1016\/j.jad.2016.12.012","volume":"210","author":"A Hinz","year":"2017","unstructured":"Hinz A, Klein AM, Br\u00e4hler E, et al. Psychometric evaluation of the generalized anxiety disorder screener GAD-7, based on a large German general population sample. J Affect Disord. 2017;210:338\u201344.","journal-title":"J Affect Disord"},{"key":"4073_CR40","unstructured":"Ware J, Snoww K, Ma K, Bg G. SF36 health survey: manual and interpretation guide. Lincoln, RI: Quality Metric, Inc; 1993. 1993. p. 30."},{"key":"4073_CR41","doi-asserted-by":"crossref","unstructured":"Farivar SS, Cunningham WE, Hays RD. Correlated physical and mental health summary scores for the SF-36 and SF-12 health survey, V.I. Health Qual Life Outcomes. 2007;5:54.","DOI":"10.1186\/1477-7525-5-54"},{"key":"4073_CR42","doi-asserted-by":"crossref","unstructured":"Cella D, Choi SW, Condon DM, Schalet B, Hays RD, Rothrock NE, et al. PROMIS(\u00ae) adult health profiles: efficient short-form measures of seven health domains. Value Health. 2019;22(5):537\u201344.","DOI":"10.1016\/j.jval.2019.02.004"},{"key":"4073_CR43","doi-asserted-by":"crossref","unstructured":"Murali CN, Slater B, Musaad S, et al. Health-related quality of life in adults with osteogenesis imperfecta. Clin Genet. 2021;99(6):772\u201379.","DOI":"10.1111\/cge.13939"},{"issue":"1","key":"4073_CR44","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1186\/s12883-017-0983-2","volume":"17","author":"B Schoser","year":"2017","unstructured":"Schoser B, Bilder DA, Dimmock D, Gupta D, James ES, Prasad S. The humanistic burden of pompe disease: are there still unmet needs? A systematic review. BMC Neurol. 2017;17(1):202.","journal-title":"BMC Neurol"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-04073-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-025-04073-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-04073-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T10:17:59Z","timestamp":1761214679000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-025-04073-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,23]]},"references-count":44,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["4073"],"URL":"https:\/\/doi.org\/10.1186\/s13023-025-04073-9","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,23]]},"assertion":[{"value":"26 February 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 September 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 October 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the Hospital for Special Surgery Institutional Review Board in New York, New York, USA.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"CR is the Medical Advisory Committee Chair and board member of the Osteogenesis Imperfecta Foundation. The other authors have no relevant financial or non-financial interests to disclose.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"537"}}