The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

Orphanet Journal of Rare Diseases

Review

Michael B. Bober¹  Cathleen Raggio²  Frank Rauch³  James Clancy⁴  Arun Mistry⁴  Ingunn Westerheim⁵  Taco van Welzenis⁵  Tracy Hart⁶  Lena Lande Wekre⁷  Oliver Semler⁸  Maria Rapoport⁹  Lucy Booth⁹  Samantha Prince⁹ 

[1] Alfred I. duPont Hospital, Wilmington, Delaware, USA;Hospital for Special Surgery, New York, USA;McGill University, Montreal, Canada;Mereo Biopharma, London, UK;Osteogenesis Imperfecta Federation Europe, Heffen, Belgium;Osteogenesis Imperfecta Foundation, Gaithersburg, MD, USA;TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Bjørnemyr, Nesodden, Norway;University of Cologne, Cologne, Germany;Wickenstones Ltd, Abingdon, Oxfordshire, UK;

关键词: Osteogenesis imperfecta;    Health-related quality of life;    Clinical;    Economic;    Caregiver;    Adult;    Paediatric;   

DOI  :  10.1186/s13023-023-02627-3

 received in 2022-03-18, accepted in 2023-02-06,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundOsteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features. The purpose of this review was to capture and quantify the published evidence relating specifically to the clinical, humanistic, and economic impact of OI on individuals, their families, and wider society.MethodsA systematic scoping review of 11 databases (MEDLINE, MEDLINE in-progress, EMBASE, CENTRAL, PsycINFO, NHS EED, CEA Registry, PEDE, ScHARRHUd, Orphanet and Google Scholar), supplemented by hand searches of grey literature, was conducted to identify OI literature published 1st January 1995–18th December 2021. Searches were restricted to English language but without geographical limitations. The quality of included records was assessed using the AGREE II checklist and an adapted version of the JBI cross-sectional study checklist.ResultsOf the identified 7,850 records, 271 records of 245 unique studies met the inclusion criteria; overall, 168 included records examined clinical aspects of OI, 67 provided humanistic data, 6 reported on the economic impact of OI, and 30 provided data on mixed outcomes. Bone conditions, anthropometric measurements, oral conditions, diagnostic techniques, use of pharmacotherapy, and physical functioning of adults and children with OI were well described. However, few records included current care practice, diagnosis and monitoring, interactions with the healthcare system, or transition of care across life stages. Limited data on wider health concerns beyond bone health, how these concerns may impact health-related quality of life, in particular that of adult men and other family members, were identified. Few records described fatigue in children or adults. Markedly few records provided data on the socioeconomic impact of OI on patients and their caregivers, and associated costs to healthcare systems, and wider society. Most included records had qualitative limitations.ConclusionDespite the rarity of OI, the volume of recently published literature highlights the breadth of interest in the OI field from the research community. However, significant data gaps describing the experience of OI for individuals, their families, and wider society warrant further research to capture and quantify the full impact of OI.

【 授权许可】

CC BY   
© The Author(s) 2023

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