Early Life Management of Osteogenesis Imperfecta
Purpose of Review 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 paediatri...
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| Published in | Current osteoporosis reports Vol. 21; no. 6; pp. 779 - 786 |
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| Main Authors | , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Springer US
01.12.2023
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| Abstract | Purpose of Review
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.
Recent Findings
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.
Summary
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. |
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| AbstractList | Purpose of Review
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.
Recent Findings
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.
Summary
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. 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. 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. 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. 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.PURPOSE OF REVIEWThis 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.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. 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.RECENT FINDINGSWhilst 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. 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. |
| Author | Arundel, Paul Borg, Stephanie A. |
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| Keywords | Osteogenesis imperfecta Infant Bisphosphonate Type 1 collagen Rehabilitation Management |
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| References_xml | – volume: 3 start-page: 17052 year: 2017 ident: CR1 article-title: Osteogenesis imperfecta publication-title: Nat Rev Dis Primers doi: 10.1038/nrdp.2017.52 – volume: 79 start-page: 333 issue: 6 year: 2013 end-page: 340 ident: CR5 article-title: Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age publication-title: Horm Res Paediatr doi: 10.1159/000351374 – volume: 38 start-page: 361 issue: 2 year: 2022 end-page: 377 ident: CR13 article-title: Pediatric cervical kyphosis in the MRI era (1984–2008) with long-term follow up: literature review publication-title: Childs Nerv Syst doi: 10.1007/s00381-021-05409-z – volume: 93 start-page: 398 issue: 5 year: 2008 end-page: 400 ident: CR8 article-title: Two doses of pamidronate in infants with osteogenesis imperfecta publication-title: Arch Dis Child doi: 10.1136/adc.2007.125468 – volume: 33 start-page: 177 issue: 1 year: 2022 end-page: 183 ident: CR12 article-title: Craniocervical abnormalities in osteogenesis imperfecta type V publication-title: Osteoporos Int doi: 10.1007/s00198-021-06088-x – volume: 21 start-page: 1233 issue: 5 year: 2019 end-page: 1239 ident: CR17 article-title: Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen publication-title: Genet Med doi: 10.1038/s41436-018-0307-y – volume: 35 start-page: 231 issue: 1 year: 2004 end-page: 234 ident: CR9 article-title: Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta publication-title: Bone doi: 10.1016/j.bone.2004.03.008 – volume: 26 start-page: 894 issue: 4 year: 2011 end-page: 898 ident: CR19 article-title: Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis publication-title: J Bone Miner Res doi: 10.1002/jbmr.258 – volume: 137 start-page: e20154514 issue: 5 year: 2016 ident: CR3 article-title: What if the prenatal diagnosis of a lethal anomaly turns out to be wrong? 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| Title | Early Life Management of Osteogenesis Imperfecta |
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