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.

Current Osteoporosis Reports
|September 26, 2023
PubMed

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.
Abstract

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