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

M Rapoport, MB Bober, C Raggio, LL Wekre… - Orphanet Journal of …, 2023 - Springer
Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder
primarily characterised by skeletal deformity and fragility, and an array of secondary …

Multimodal pain management of children diagnosed with osteogenesis imperfecta: an integrative literature review

TE Dlesk, K Larimer - Pain Management Nursing, 2023 - Elsevier
Objectives The objective of this literature review was to evaluate multimodal therapies and
interventions that help prevent progression and manage pain in children with OI. Design A …

Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro‐osteogenic paracrine response: TERCELOI clinical trial

A Infante, B Gener, M Vázquez… - Clinical and …, 2021 - Wiley Online Library
Background Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone
fragility, with a wide range in the severity of clinical manifestations. The majority of cases are …

The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

I Westerheim, T Hart, T van Welzenis, LL Wekre… - Orphanet Journal of …, 2024 - Springer
Background Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder
associated with a variety of symptoms, that affect individuals' quality of life (QoL) and can be …

Health-related quality of life in children with osteogenesis imperfecta: a large-sample study

Y Song, D Zhao, L Li, F Lv, O Wang, Y Jiang… - Osteoporosis …, 2019 - Springer
In this large-sample study, we demonstrated that osteogenesis imperfecta (OI) significantly
impaired the quality of life (QoL) in children. Moderate/severe OI patients had worse QoL …

Prevalence of depression and anxiety, and their relationship to social support among patients and family caregivers of rare bone diseases

X Lai, Y Jiang, Y Sun, Z Zhang, S Wang - Orphanet Journal of Rare …, 2023 - Springer
Abstract Background Rare bone diseases (RBDs) are a set of inherited rare diseases that
can cause disability and have a devastating impact on families affected, which may lead to a …

Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions

HS Smith, M Leo, K Goddard, K Muessig… - Quality of Life …, 2024 - Springer
Purpose Measuring health-related quality of life (HRQoL) of children with suspected genetic
conditions is important for understanding the effect of interventions such as genomic …

Hospital admissions of patients with osteogenesis imperfecta in the English NHS

S Kolovos, MK Javaid, R Pinedo-Villanueva - Osteoporosis International, 2021 - Springer
Hospital use by patients with osteogenesis imperfecta was largely unknown. This study
found that the English NHS provides a significant number of hospital admissions to these …

[HTML][HTML] Chronic pain in adults with osteogenesis imperfecta and its relationship to appraisal, coping, and quality of life: a cross-sectional study

RM Cortés, JFS Pastor, VM Dolz - Medicine, 2022 - journals.lww.com
Chronic pain is a common experience in osteogenesis imperfecta (OI). However, there are
few studies on this topic, and none of them emerge from psychology as a discipline. The …

Pediatric outcomes data collection instrument is a useful patient-reported outcome measure for physical function in children with osteogenesis imperfecta

CN Murali, D Cuthbertson, B Slater, D Nguyen… - Genetics in …, 2020 - nature.com
Purpose Patient-reported outcome measures (PROMs) are increasingly recognized as
valuable endpoints in clinical trials. The Pediatric Outcomes Data Collection Instrument …