{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T17:54:28Z","timestamp":1793382868647,"version":"4.5.0"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T00:00:00Z","timestamp":1695686400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T00:00:00Z","timestamp":1695686400000},"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":["Curr Osteoporos Rep"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Purpose of Review<\/jats:title>\n                <jats:p>This review aims to provide a review of the multidisciplinary management of infants with osteogenesis imperfecta (OI) during the first year of life, focusing on those with severe disease. The authors draw on published literature and direct experience of working in a large paediatric centre specialising in the management of rare bone disease.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Recent Findings<\/jats:title>\n                <jats:p>Whilst understanding of the pathophysiology of OI has grown over the past decade, the evidence base for management of infants remains limited. There has been a greater recognition of certain subjects of concern including pain management, cervical spine deformity, and neurocognitive development. Both international consensus guidelines on rehabilitation and disease-specific growth charts have been welcomed by clinical teams.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Summary<\/jats:title>\n                <jats:p>The early involvement of multidisciplinary specialist care is critical in ensuring optimal care for the infant with severe OI. A long-term perspective which focuses on the axial, craniofacial, and peripheral skeleton as well as on development more generally provides a framework which can guide the management of infants with severe OI.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s11914-023-00823-5","type":"journal-article","created":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T17:01:58Z","timestamp":1695747718000},"page":"779-786","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Early Life Management of Osteogenesis Imperfecta"],"prefix":"10.1007","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8443-3601","authenticated-orcid":false,"given":"Paul","family":"Arundel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie A.","family":"Borg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,9,26]]},"reference":[{"key":"823_CR1","doi-asserted-by":"publisher","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","volume":"3","author":"JC Marini","year":"2017","unstructured":"Marini JC, Forlino A, B\u00e4chinger HP, Bishop NJ, Byers PH, Paepe A, et al. Osteogenesis imperfecta. Nat Rev Dis Primers. 2017;3:17052. https:\/\/doi.org\/10.1038\/nrdp.2017.52.","journal-title":"Nat Rev Dis Primers"},{"issue":"1","key":"823_CR2","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1186\/s13023-018-0905-4","volume":"13","author":"B Mueller","year":"2018","unstructured":"Mueller B, Engelbert R, Baratta-Ziska F, Bartels B, Blanc N, Brizola E, et al. Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta. Orphanet J Rare Dis. 2018;13(1):158. https:\/\/doi.org\/10.1186\/s13023-018-0905-4.","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"823_CR3","doi-asserted-by":"publisher","first-page":"e20154514","DOI":"10.1542\/peds.2015-4514","volume":"137","author":"A Kidszun","year":"2016","unstructured":"Kidszun A, Linebarger J, Walter JK, Paul NW, Fruth A, Mildenberger E, et al. What if the prenatal diagnosis of a lethal anomaly turns out to be wrong? Pediatrics. 2016;137(5):e20154514. https:\/\/doi.org\/10.1542\/peds.2015-4514.","journal-title":"Pediatrics."},{"issue":"4","key":"823_CR4","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1002\/pne2.12066","volume":"3","author":"RS Carroll","year":"2021","unstructured":"\u2022 Carroll RS, Donenfeld P, McGreal C, Franzone JM, Kruse RW, Preedy C, et al. Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period. Paediatr Neonatal Pain. 2021;3(4):156\u201362. https:\/\/doi.org\/10.1002\/pne2.12066. This practical paper highlights and provides guidance for the assessment and management of pain in infants with OI that has been developed by a team experienced in the care of this population.","journal-title":"Paediatr Neonatal Pain"},{"issue":"6","key":"823_CR5","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1159\/000351374","volume":"79","author":"MB Alcausin","year":"2013","unstructured":"Alcausin MB, Briody J, Pacey V, Ault J, McQuade M, Bridge C, Engelbert RH, Sillence DO, Munns CF. Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age. Horm Res Paediatr. 2013;79(6):333\u201340. https:\/\/doi.org\/10.1159\/000351374.","journal-title":"Horm Res Paediatr"},{"issue":"1","key":"823_CR6","doi-asserted-by":"publisher","first-page":"101075","DOI":"10.1016\/j.siny.2019.101075","volume":"25","author":"A Chinoy","year":"2020","unstructured":"Chinoy A, Mughal MZ, Padidela R. Current status in therapeutic interventions of neonatal bone mineral metabolic disorders. Semin Fetal Neonatal Med. 2020;25(1):101075. https:\/\/doi.org\/10.1016\/j.siny.2019.101075.","journal-title":"Semin Fetal Neonatal Med."},{"issue":"5","key":"823_CR7","doi-asserted-by":"publisher","first-page":"560","DOI":"10.1007\/s00774-014-0618-2","volume":"33","author":"K Kusumi","year":"2015","unstructured":"Kusumi K, Ayoob R, Bowden SA, Ingraham S, Mahan JD. Beneficial effects of intravenous pamidronate treatment in children with osteogenesis imperfecta under 24 months of age. J Bone Miner Metab. 2015;33(5):560\u20138. https:\/\/doi.org\/10.1007\/s00774-014-0618-2.","journal-title":"J Bone Miner Metab"},{"issue":"5","key":"823_CR8","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1136\/adc.2007.125468","volume":"93","author":"S Senthilnathan","year":"2008","unstructured":"Senthilnathan S, Walker E, Bishop NJ. Two doses of pamidronate in infants with osteogenesis imperfecta. Arch Dis Child. 2008;93(5):398\u2013400. https:\/\/doi.org\/10.1136\/adc.2007.125468.","journal-title":"Arch Dis Child"},{"issue":"1","key":"823_CR9","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1016\/j.bone.2004.03.008","volume":"35","author":"CF Munns","year":"2004","unstructured":"Munns CF, Rauch F, Mier RJ, Glorieux FH. Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta. Bone. 2004;35(1):231\u20134. https:\/\/doi.org\/10.1016\/j.bone.2004.03.008.","journal-title":"Bone"},{"key":"823_CR10","unstructured":"British and Irish Paediatric and Adolescent Bone Group. Intravenous bisphosphonates: frequently asked questions. 2020. https:\/\/www.brittlebone.org\/wp-content\/uploads\/2022\/10\/Bisphosphate-Leaflet-BPABG-2020-003.pdf?x31710. Accessed 25 Jun 2023."},{"issue":"11","key":"823_CR11","doi-asserted-by":"publisher","first-page":"1621","DOI":"10.1007\/s00383-021-04975-2","volume":"37","author":"CL Devin","year":"2021","unstructured":"\u2022 Devin CL, Sagalow E, Penikis A, McGreal CM, Bober MB, Berman L. Long-term vascular access for infants with moderate to severe osteogenesis imperfecta. Pediatr Surg Int. 2021;37(11):1621\u20135. https:\/\/doi.org\/10.1007\/s00383-021-04975-2. This is a paper which presents one large centre\u2019s experience of vascular access in infants and children with OI over 19 years as well as a summary of some of the difficulties and dilemmas that face a team deciding whether to site central access or not.","journal-title":"Pediatr Surg Int"},{"issue":"1","key":"823_CR12","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1007\/s00198-021-06088-x","volume":"33","author":"K Ludwig","year":"2022","unstructured":"\u2022 Ludwig K, Seiltgens C, Ibba A, Saran N, Ouellet JA, Glorieux F, et al. Craniocervical abnormalities in osteogenesis imperfecta type V. Osteoporos Int. 2022;33(1):177\u201383. https:\/\/doi.org\/10.1007\/s00198-021-06088-x. This is an interesting paper describing a craniocervical problems in a specific patient group but also highlighting the need to be vigilant for such problems more generally in the OI population.","journal-title":"Osteoporos Int"},{"issue":"2","key":"823_CR13","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1007\/s00381-021-05409-z","volume":"38","author":"AH Menezes","year":"2022","unstructured":"Menezes AH, Traynelis VC. Pediatric cervical kyphosis in the MRI era (1984\u20132008) with long-term follow up: literature review. Childs Nerv Syst. 2022;38(2):361\u201377. https:\/\/doi.org\/10.1007\/s00381-021-05409-z.","journal-title":"Childs Nerv Syst"},{"issue":"6","key":"823_CR14","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1177\/0309364616685596","volume":"41","author":"CG Matarazzo","year":"2017","unstructured":"Matarazzo CG, Schreen G, Lago-Rizzardi CDD, Peccin MS, Pinto FC. Orthotic treatment of positional brachycephaly associated with osteogenesis imperfecta. Prosthet Orthot Int. 2017;41(6):595\u2013600. https:\/\/doi.org\/10.1177\/0309364616685596.","journal-title":"Prosthet Orthot Int"},{"issue":"1","key":"823_CR15","doi-asserted-by":"publisher","first-page":"e15512","DOI":"10.1111\/ped.15512","volume":"65","author":"K Hirata","year":"2023","unstructured":"Hirata K, Aoki R, Nagano N, Kato R, Aoki M, Miyazaki O, Morioka I. Successful helmet therapy in an infant with positional brachycephaly associated with perinatal severe osteogenesis imperfecta. Pediatr Int. 2023;65(1):e15512. https:\/\/doi.org\/10.1111\/ped.15512.","journal-title":"Pediatr Int."},{"issue":"1","key":"823_CR16","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1186\/s13023-021-01682-y","volume":"16","author":"W Nijhuis","year":"2021","unstructured":"\u2022\u2022 Nijhuis W, Franken A, Ayers K, Damas C, Folkestad L, Forlino A, et al. A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta. Orphanet J Rare Dis. 2021;16(1):140. https:\/\/doi.org\/10.1186\/s13023-021-01682-y. This paper describes a standard set of outcome measures derived from a process involving experts in the field and patients from several countries. It highlights the range of outcome measures of importance to individuals and families and offers them for consideration to teams aspiring to provide comprehensive care for those with OI.","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"823_CR17","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1038\/s41436-018-0307-y","volume":"21","author":"LA Barber","year":"2019","unstructured":"Barber LA, Abbott C, Nakhate V, Do AND, Blissett AR, Marini JC. Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen. 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J Bone Miner Res. 2011;26(4):894\u20138. https:\/\/doi.org\/10.1002\/jbmr.258.","journal-title":"J Bone Miner Res"}],"container-title":["Current Osteoporosis Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11914-023-00823-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11914-023-00823-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11914-023-00823-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,16]],"date-time":"2023-12-16T04:37:33Z","timestamp":1702701453000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11914-023-00823-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,26]]},"references-count":19,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["823"],"URL":"https:\/\/doi.org\/10.1007\/s11914-023-00823-5","relation":{},"ISSN":["1544-1873","1544-2241"],"issn-type":[{"value":"1544-1873","type":"print"},{"value":"1544-2241","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,26]]},"assertion":[{"value":"12 September 2023","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 September 2023","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no competing interests to declare that are relevant to the content of this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"All reported studies\/experiments with human or animal subjects performed by the authors have been previously published and complied with all applicable ethical standards (including the Helsinki declaration and its amendments, institutional\/national research committee standards, and international\/national\/institutional guidelines).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights"}}]}}