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Optimising Health-Related Quality of Life in Children With Osteogenesis Imperfecta

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Abstract

Osteogenesis Imperfecta is a rare, hereditary bone condition with an incidence of 1/15,000–20,000. Symptoms include bone fragility, long bone deformity, scoliosis, hypermobility, alongside secondary features such as short stature, basilar invagination, pulmonary and cardiac complications, hearing loss, dentinogenesis imperfecta and malocclusion. Osteogenesis Imperfecta can have a large impact on the child and their family; this impact starts immediately after diagnosis. Fractures, pain, immobility, hospital admissions and the need for equipment and adaptations all influence the health-related quality of life of the individual and their family. This narrative review article aims to examine the impact the diagnosis and management of osteogenesis imperfecta has on the health-related quality of life of a child. It will touch on the effect this may have on the quality of life of their wider family and friends and identify strategies to optimise health-related quality of life in this population. Optimising health-related quality of life in children with Osteogenesis Imperfecta is often a complicated, multifaceted journey that involves the child, their extended family, school, extracurricular staff and numerous health professionals.

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    Claire L Hill, Davina Ford & Jill Baker

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No funding was received to assist with the preparation of this manuscript. Claire Hill has served in an advisory capacity for Mereo BioPharma and Ultragenyx. Concept and literature search was performed by Claire Hill. All authors contributed to the manuscript, revised the paper critically for intellectual content and have approved the final draft. All authors agree to be accountable for the work and to ensure that any questions relating to the accuracy and integrity of the paper are investigated and properly resolved.

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Hill, C.L., Ford, D. & Baker, J. Optimising Health-Related Quality of Life in Children With Osteogenesis Imperfecta. Calcif Tissue Int (2024). https://doi.org/10.1007/s00223-024-01205-4

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