SynthesisOrphanet journal of rare diseases2023
Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis.
Synthesis in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 19 citations in OpenAlex.
- Dose matters: haploinsufficiency in osteogenesis imperfecta.Nature reviews. Endocrinology · 2026Review
- Article
- Health-Related Quality of Life and Fatigue in Patients with Osteogenesis Imperfecta.Healthcare (Basel, Switzerland) · 2026Article
- Rare disease care pathways profile in France: leveraging hospital big data to characterize natural history in osteogenesis imperfecta.JBMR plus · 2026Article
- Acute Phase Reaction After First Neridronate Infusion in Children with Osteogenesis Imperfecta: An Analysis Based on Questionnaire Data from 65 Patients.Paediatric drugs · 2026Article
- Oral health-related quality of life in patients with osteogenesis imperfecta in Taiwan.Journal of dental sciences · 2026Article
- Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers.Families, systems & health : the journal of collaborative family healthcare · 2025Article
- Article
- Exploring network relations between healthcare access and utilisation in individuals with rare diseases.Public health in practice (Oxford, England) · 2025Article
- Article
- Determinants of masticatory ability in Taiwanese patients with osteogenesis imperfecta.Journal of dental sciences · 2025Article
- Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis Imperfecta.Disability and rehabilitation · 2025Article
- Comprehensive Bibliometric Assessment of the Top 50 Cited Articles on Osteogenesis Imperfecta.Orthopedic reviews · 2025Article
- Latent profiles and predictors of barriers to care in Swiss children and adolescents with rare diseases.Journal of pediatric psychology · 2024Article
- What's new in pediatric lower limb reconstruction?Journal of children's orthopaedics · 2024Article
- Orofacial Features, Oral Health-Related Quality of Life, and Exposure to Bullying in Osteogenesis Imperfecta: A Cross-Sectional Study.Children (Basel, Switzerland) · 2024Article
- Lower Healthcare Access and Its Association With Individual Factors and Health-Related Quality of Life in Adults With Rare Diseases in Switzerland.International journal of public health · 2024Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOsteogenesis imperfecta (OI) is a group of rare inheritable disorders of connective tissue. The cardinal manifestations of OI are low bone mass and reduced bone mineral strength, leading to increased bone fragility and deformity that may lead to significant impairment in daily life. The phenotypic manifestations show a broad range of severity, ranging from mild or moderate to severe and lethal. The here presented meta-analysis aimed to analyze existing findings on quality of life (QoL) in children and adults with OI.
methodsNine databases were searched with predefined key words. The selection process was executed by two independent reviewers and was based on predetermined exclusion and inclusion criteria. The quality of each study was assessed using a risk of bias tool. Effect sizes were calculated as standardized mean differences. Between-study heterogeneity was calculated with the I
resultsAmong the studies included two featured children and adolescents (N = 189), and four adults (N = 760). Children with OI had significantly lower QoL on the Pediatric quality of life inventory (PedsQL) with regards to the total score, emotional, school, and social functioning compared to controls and norms. The data was not sufficient to calculate differences regarding OI-subtypes. In the adult sample assessed with Short Form Health Survey Questionnaire, 12 (SF-12) and 36 items (SF-36), all OI types showed significantly lower QoL levels across all physical component subscales compared to norms. The same pattern was found for the mental component subscales namely vitality, social functioning, and emotional role functioning. The mental health subscale was significantly lower for OI type I, but not for type III and IV. All of the included studies exhibited a low risk of bias.
conclusionsQoL was significantly lower in children and adults with OI compared to norms and controls. Studies in adults comparing OI subtypes showed that the clinical severity of the phenotype is not related to worse mental health QoL. Future research is needed to examine QoL in children and adolescents in more sophisticated ways and to better understand the association between clinical severity of an OI-phenotype/severity and mental health in adults.
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