Early Life Management of Osteogenesis Imperfecta
Paul Arundel1,2, Stephanie A Borg3,4
1Sheffield Children's NHS Foundation Trust, Sheffield, UK. paul.arundel@nhs.net.
Insights
This review focuses on managing infants with severe osteogenesis imperfecta (OI) in their first year. Early multidisciplinary care and a long-term skeletal and developmental perspective are crucial for optimal outcomes in OI infants.
Area of Science:
- Pediatrics
- Genetics
- Orthopedics
Background:
- Osteogenesis imperfecta (OI) pathophysiology understanding has advanced, yet infant management evidence is limited.
- Increased focus on pain, cervical spine deformity, and neurocognitive development in severe OI infants.
- International consensus guidelines and growth charts offer valuable clinical support.
Purpose of the Study:
- To review the multidisciplinary management of infants with severe osteogenesis imperfecta (OI) during their first year of life.
- To synthesize published literature and expert experience in managing rare bone diseases in infants.
- To provide a framework for guiding the care of infants with severe OI.
Main Methods:
- Literature review of multidisciplinary management strategies for OI in infants.
- Inclusion of direct experience from a specialized pediatric rare bone disease center.
- Focus on severe OI cases within the first year of life.
Main Results:
- Limited evidence base for infant OI management despite improved pathophysiology understanding.
- Recognition of critical areas: pain, cervical spine deformity, neurocognitive development.
- Value of early multidisciplinary specialist care and a long-term holistic approach.
Conclusions:
- Early, multidisciplinary specialist care is critical for infants with severe OI.
- A long-term perspective encompassing skeletal and general development is essential.
- Guidelines and growth charts aid clinical teams in managing OI infants.
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. 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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