{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T13:37:21Z","timestamp":1765546641281},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,10,2]],"date-time":"2020-10-02T00:00:00Z","timestamp":1601596800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,10,2]],"date-time":"2020-10-02T00:00:00Z","timestamp":1601596800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Arch Osteoporos"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1007\/s11657-020-00818-0","type":"journal-article","created":{"date-parts":[[2020,10,2]],"date-time":"2020-10-02T16:03:35Z","timestamp":1601654615000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Respiratory impairment impacts QOL in osteogenesis imperfecta independent of skeletal abnormalities"],"prefix":"10.1007","volume":"15","author":[{"given":"Elizabeth A.","family":"Yonko","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jillian S.","family":"Emanuel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin M.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert A.","family":"Sandhaus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathleen L.","family":"Raggio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,10,2]]},"reference":[{"key":"818_CR1","doi-asserted-by":"crossref","unstructured":"Tauer JT, Robinson ME, Rauch F (2019) Osteogenesis imperfecta: new perspectives from clinical and translational research. JBMR Plus e10174","DOI":"10.1002\/jbm4.10174"},{"key":"818_CR2","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/S0140-6736(86)91609-0","volume":"2","author":"B Sykes","year":"1986","unstructured":"Sykes B, Ogilvie D, Wordsworth P (1986) Anderson, Jones N, Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet. 2:69\u201372","journal-title":"Lancet."},{"key":"818_CR3","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1111\/cge.12409","volume":"87","author":"RM Patel","year":"2015","unstructured":"Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Hart T, Sutton VR (2015) A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. Clin Genet. 87:133\u2013140","journal-title":"Clin Genet."},{"issue":"2","key":"818_CR4","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1136\/jmg.16.2.101","volume":"16","author":"D Sillence","year":"1979","unstructured":"Sillence D, Senn A, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16(2):101\u2013116","journal-title":"J Med Genet"},{"issue":"6","key":"818_CR5","doi-asserted-by":"publisher","first-page":"1470","DOI":"10.1002\/ajmg.a.36545","volume":"164","author":"FS Van Dijk","year":"2014","unstructured":"Van Dijk FS, Sillence DO (2014) Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. American journal of medical genetics Part A. 164(6):1470\u20131481","journal-title":"American journal of medical genetics Part A."},{"key":"818_CR6","first-page":"113","volume":"15","author":"DO Sillence","year":"1979","unstructured":"Sillence DO, Rimoin DL, Danks DM (1979) Clinical variability in osteogenesis imperfecta variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser 15:113\u2013129","journal-title":"Birth Defects Orig Artic Ser"},{"issue":"2","key":"818_CR7","doi-asserted-by":"publisher","first-page":"433","DOI":"10.18388\/abp.2002_3802","volume":"49","author":"A Gajko-Galicka","year":"2002","unstructured":"Gajko-Galicka A (2002) Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans. Acta Biochimica Polonica. 49(2):433\u2013441","journal-title":"Acta Biochimica Polonica."},{"issue":"12","key":"818_CR8","doi-asserted-by":"publisher","first-page":"2781","DOI":"10.1007\/s00198-018-4663-x","volume":"29","author":"JD Hald","year":"2018","unstructured":"Hald JD, Folkestad L, Swan CZ, Wanscher J, Schmidt M, Gj\u00f8rup H, Haubek D, Leonhard CH, Larsen DA, Hjortdal J\u00d8, Harsl\u00f8f T, Duno M, Lund AM, Jensen JB, Brixen K, Langdahl B (2018) Osteogenesis imperfecta and the teeth, eyes, and ears\u2014a study of non-skeletal phenotypes in adults. Osteoporosis International. 29(12):2781\u20132789","journal-title":"Osteoporosis International."},{"issue":"6","key":"818_CR9","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1136\/thx.41.6.418","volume":"41","author":"GJ Laurent","year":"1986","unstructured":"Laurent GJ (1986) Lung collagen: more than scaffolding. Thorax. 41(6):418\u2013428","journal-title":"Thorax."},{"key":"818_CR10","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1136\/jcp.49.8.627","volume":"49","author":"SJ McAllion","year":"1996","unstructured":"McAllion SJ, Paterson CR (1996) Causes of death in osteogenesis imperfecta. J Clin Pathol 49:627\u2013630","journal-title":"J Clin Pathol"},{"key":"818_CR11","doi-asserted-by":"publisher","first-page":"1377","DOI":"10.1016\/S0140-6736(04)16051-0","volume":"363","author":"F Rauch","year":"2004","unstructured":"Rauch F, Glorieux FH (2004) Osteogenesis imperfecta. Lancet (London, England) 363:1377\u20131385","journal-title":"Lancet (London, England)"},{"key":"818_CR12","doi-asserted-by":"crossref","unstructured":"Sandhaus RA (2014) Chapter 35-Pulmonary function in osteogenesis imperfecta. Shapiro JR, Byers PH, Glorieux FH, Sponseller PD (eds). Osteogenesis imperfecta: a translational approach to brittle bone disease. pp 335\u2013342","DOI":"10.1016\/B978-0-12-397165-4.00035-6"},{"key":"818_CR13","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1002\/ppul.1950200508","volume":"20","author":"DW Thibeault","year":"1995","unstructured":"Thibeault DW, Pettett G, Mabry SM, Rezaiekhaligh MM (1995) Osteogenesis imperfecta type IIA and pulmonary hypoplasia with normal alveolar development. Pediatr Pulmonol 20:301\u2013306","journal-title":"Pediatr Pulmonol"},{"key":"818_CR14","doi-asserted-by":"publisher","first-page":"783","DOI":"10.2106\/00004623-197456040-00012","volume":"56","author":"KA Falvo","year":"1974","unstructured":"Falvo KA, Root L, Bullough PG (1974) Osteogenesis imperfecta: clinical evaluation and management. J Bone Joint Surg Am 56:783\u2013793","journal-title":"J Bone Joint Surg Am"},{"key":"818_CR15","first-page":"20","volume":"165","author":"H Norimatsu","year":"1982","unstructured":"Norimatsu H, Mayuzumi T, Takahashi H (1982) The development of the spinal deformities in osteogenesis imperfecta. Clin Orthop Relat Res. 165:20\u201325","journal-title":"Clin Orthop Relat Res."},{"key":"818_CR16","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1111\/crj.12092","volume":"8","author":"LL Wekre","year":"2014","unstructured":"Wekre LL, Kjensli A, Aasand K, Falch JA, Eriksen EF (2014) Spinal deformities and lung function in adults with osteogenesis imperfecta. Clin Respir J 8:437\u2013443","journal-title":"Clin Respir J"},{"key":"818_CR17","doi-asserted-by":"publisher","first-page":"1057","DOI":"10.1097\/BRS.0000000000003012","volume":"44","author":"R Bronheim","year":"2019","unstructured":"Bronheim R, Khan S, Carter E, Sandhaus RA, Raggio C (2019) Scoliosis and cardiopulmonary outcomes in osteogenesis imperfecta patients. Spine 44:1057\u20131063","journal-title":"Spine"},{"key":"818_CR18","doi-asserted-by":"publisher","first-page":"1673","DOI":"10.1097\/00007632-199908150-00008","volume":"24","author":"RF Widmann","year":"1999","unstructured":"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\u20131678","journal-title":"Spine"},{"key":"818_CR19","first-page":"190","volume":"95","author":"W Himakhun","year":"2012","unstructured":"Himakhun W, Rojnueangnit K, Prachukthum S (2012) Perinatal lethal osteogenesis imperfecta in a Thai newborn: the autopsy and histopathogical findings. J Med Assoc Thail. 95:190\u2013194","journal-title":"J Med Assoc Thail."},{"key":"818_CR20","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/8756-3282(89)90049-5","volume":"10","author":"JR Shapiro","year":"1989","unstructured":"Shapiro JR, Burn VE, Chipman SD, Jacobs JB, Schloo B, Reid L, Larsen N, Louis F (1989) Pulmonary hypoplasia and osteogenesis imperfecta type II with defective synthesis of alpha I(1) procollagen. Bone. 10:165\u2013171","journal-title":"Bone."},{"key":"818_CR21","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1183\/09031936.02.00213202","volume":"19","author":"M Ferrer","year":"2002","unstructured":"Ferrer M, Villasante C, Alonso J, Sobradillo V, Gabriel R, Vilagut G, Masa JF, Viejo JL, Jim\u00e9nez-Ruiz CA, Miravitlles M (2002) Interpretation of quality of life scores from the St. George\u2019s Respiratory Questionnaire. Eur Respir J 19:405\u2013413","journal-title":"Eur Respir J"},{"key":"818_CR22","volume-title":"St George\u2019s Respiratory Questionnaire Manual","author":"PW Jones","year":"2009","unstructured":"Jones PW, Forde Y (2009) St George\u2019s Respiratory Questionnaire Manual. University of London, London"},{"key":"818_CR23","doi-asserted-by":"crossref","unstructured":"Yonko E, Carter E, Sandhaus R, Raggio C (2019) Respiratory health impacts quality of life for adults with OI [abstract]. Presented at the 9th International Conference on Children\u2019s Bone Health, Salzburg, Austria. Bone Abstracts. 7:P105","DOI":"10.1530\/boneabs.7.P105"},{"key":"818_CR24","unstructured":"Osteogenesis Imperfecta Foundation (n.d.) Current studies. Retrieved from https:\/\/oif.org\/currentstudies\/. Accessed 15 June 2020"},{"key":"818_CR25","unstructured":"Survey on Respiratory Function & OI (2019) OIFE Magazine, p. 25"},{"key":"818_CR26","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 (2009) Research electronic data capture (REDCap) \u2013 a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform 42:377\u2013381","journal-title":"J Biomed Inform"},{"key":"818_CR27","doi-asserted-by":"publisher","first-page":"103208","DOI":"10.1016\/j.jbi.2019.103208","volume":"95","author":"PA Harris","year":"2019","unstructured":"Harris PA, Taylor R, Minor BL, Elliott V, Fernandez M, O\u2019Neal L, McLeod L, Delacqua G, Delacqua F, Kirby J, Duda SN, REDCap Consortium (2019) The REDCap consortium: building an international community of software partners. J Biomed Inform 95:103208","journal-title":"J Biomed Inform"},{"key":"818_CR28","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1183\/09031936.02.00063702","volume":"19","author":"PW Jones","year":"2002","unstructured":"Jones PW (2002) Interpreting thresholds for a clinically significant change in health status in asthma and COPD. European Respiratory Journal. 19:398\u2013404","journal-title":"European Respiratory Journal."},{"issue":"2","key":"818_CR29","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1007\/s00198-018-4690-7","volume":"30","author":"T Swezey","year":"2019","unstructured":"Swezey T, Reeve BB, Hart TS, Floor MK, Dollar CM, Gillies AP, Tosi LL (2019) Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. Osteoporos Int. 30(2):507\u2013511. https:\/\/doi.org\/10.1007\/s00198-018-4690-7","journal-title":"Osteoporos Int."}],"container-title":["Archives of Osteoporosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11657-020-00818-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11657-020-00818-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11657-020-00818-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,2]],"date-time":"2021-10-02T00:39:55Z","timestamp":1633135195000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11657-020-00818-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,2]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["818"],"URL":"https:\/\/doi.org\/10.1007\/s11657-020-00818-0","relation":{},"ISSN":["1862-3522","1862-3514"],"issn-type":[{"value":"1862-3522","type":"print"},{"value":"1862-3514","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,2]]},"assertion":[{"value":"30 June 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 September 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 October 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"Cathleen L. Raggio received support from the Osteogenesis Imperfecta Foundation to cover dissemination fees associated with this research. Elizabeth A. Yonko, Jillian S. Emanuel, Erin M. Carter, and Robert A. Sandhaus declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"All work was performed at Hospital for Special Surgery, NY, NY and National Jewish Health in Denver, CO. This study was performed in accordance with the ethical standards in the 1964 Declaration of Helsinki and regulations of HIPAA. Details that might disclose the identity of the subjects under study were omitted. IRB approval was obtained at Hospital for Special Surgery.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The requirement for consent to participate was waived by Hospital for Special Surgery\u2019s Institutional Review Board because the research involved no more than minimal risk to subjects, did not adversely affect rights and welfare of subjects, and could not practicably be carried out without the waiver.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Consent for publication was not obtained for the same reasons as listed above. The publication does not contain any identifying information.Code availabilityNot applicable","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}],"article-number":"153"}}