Quality of life in osteogenesis imperfecta: A mixed‐methods systematic review

Abstract

Clinical interventions and research have mostly focused on the orthopedic, genetic, and pharmacological outcomes of individuals with osteogenesis imperfecta (OI), and although quality of life (QoL) has gained recognition as an important patient-outcome, it has received little attention in individuals with OI. This mixed-methods systematic review of the literature included five search engines and identified a total of 212 articles. Once study eligibility was reviewed, 10 studies met the inclusion criteria and were included in this mixed-methods review (9 quantitative and 1 qualitative). Among the 10 included QoL studies, six reported on children with OI, three on adults with OI, and one on the parents of children with OI. Physical QoL in children and adults with OI appears to be less than that of the general population, with individuals with more severe OI types reporting worse QoL. On the other hand, mental and psychosocial QoL is the same or better in individuals with OI than that of the general population. Pain, scoliosis activity limitations and participation restrictions due to decreased function are associated with lower levels of physical QoL. Researchers must agree on a definition of QoL as it relates to OI and use validated measures appropriate for evaluating QoL in OI. Pediatric studies should consider both the child and the parent's QOL perceptions as these may differ. QoL in the adult population should not be dismissed in order to offer proper client-centered interventions throughout the lifespan.

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

“…The studies were appraised by two independent reviewers using the Mixed Methods Appraisal Tool (MMAT) and the CAse REport (CARE) Checklist. Both tools have been previously used in OI reviews (Dahan‐Oliel et al, ; Nghiem et al, ). The MMAT was created for the appraisal stage of complex literature reviews (Hong et al, ).…”

“…As a result, the life expectancy of individuals with OI has increased well beyond childhood (Folkestad et al, ). While a number of adults may live a high quality of life for the mental and psychosocial domains (Dahan‐Oliel et al, ), they remain at higher risk of poor physical quality of life. They are also at greater risk of early death; approximately 7–10 years less than the general population (Folkestad, Hald, Canudas‐Romo, et al ).…”

Bisphosphonate therapy and osteogenesis imperfecta: The lived experience of children and their mothers

“…The theme of enhanced well‐being (renewal), associated with the impact of bisphosphonate therapy, was reported by participants in another study (Tsimicalis et al., ). Dahan‐Oliel, Oliel, Tsimicalis, Montpetit, Rauch, and Dogba () identified that QOL scores increased in children who experienced this intervention.…”

“…QOL assessments completed with parents of children with OI describe physical and financial burdens, in addition to social and psychological stressors (Dogba, Rauch, Tre, Glorieux, & Bedos, ; Vanz, Félix, da Rocha, & Schwartz, ). Although physical QOL scores were lower in children and adults with OI; mental and psychosocial QOL scores were the same or better as compared with a well‐population (Dahan‐Oliel et al., ). In contrast Vanz et al.…”

Clinical observation of children with osteogenesis imperfecta, which was diagnosed in neonatal period or in infancy

“…Opracowano schematy leczenia w zależności od wieku dziecka. Jak wynika z naszych spostrzeżeń, zarówno wcześniejszych jak i przedstawionych w tej pracy, leczenie to systematycznie prowadzi do poprawy stanu zdrowia dziecka [21]. Najwcześniejszymi zauważonymi przez nas efektami były poprawa twardości kości, zmniejszenie ciemienia przedniego i wzrost napię-cia mięśniowego.…”