Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™

Abstract

BackgroundOsteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy and physical therapy, as well as specific daily care practices. In addition, they have an increased incidence of fractures, which require immobilization and cause severe discomfort and short-term disability. This study evaluated the health-related quality of life of children and adolescents with OI in two reference centers for OI treatment in southern Brazil.MethodsIn this prospective cross-sectional study, the Pediatric Quality of Life Inventory (PedsQLTM) was applied in two university-affiliated reference centers for OI treatment in southern Brazil. Children and adolescents aged ≥ 5 years with clinical diagnoses of OI were included. Clinical data and socioeconomic status was evaluated.ResultsThe sample consisted of 52 children and adolescents with OI (aged 5-17 years); 26 (50%) participants with type I OI, 13 (25%) type IV, 12 (23.1 %) type III, and 1 (1.9%) type V OI. Physical and social functioning domains differed significantly according to clinical presentation of OI with lowest scores in the severe type (OI type III). Pain seems to be the variable that is most associated with impact on the PedsQL domains.ConclusionsOverall, this study revealed differences in physical functioning and social functioning in relation to OI clinical presentation. These results reinforcing the importance of the clinical management of these patients with the aim of functional improvement and importance of pain control.

Dental management of a child with a rare bone disorder: a case report with a six-year follow up

“…Bone frailty is severe in type III, which is the type presented by the patient described herein. Type III accounts for 20.0% of cases of OI [1,3,6] and leads to recurrent bone fractures, with a negative impact on quality of life [1,20].…”

“…The patient's mother reported visiting several health professionals and hospitals for the treatment of the 40 bone fractures the child had suffered, which demonstrates the effort and commitment on the part of caregivers when dealing with the problems stemming from this disease. The literature describes frequent bone fractures in individuals with type III OI, leading to functional limitations and physical disability due to bone deformities [20].…”

“…Considering the health problems and complications associated with rare diseases, such as type III OI, affected individuals require multidisciplinary care with a team formed by an orthopedist, surgeon, physiotherapist, dentist and psychologist [20,21]. Although an orthopedist may refer patients to a dental service in some cases, the oral health care of individuals with rare diseases is usually not a priority of many physicians and parents/caregivers in light of the other healthcare needs [21].…”

“…There is no evidence in the literature to contraindicate orthodontic treatment for individuals in bisphosphonate therapy [28]. The recovery of oral function and esthetics is fundamental to the enhancement of self-esteem and patient satisfaction as well as for a better performance on activities of daily living, leading to an improvement in quality of life [20,23].…”

Rare genetic diseases affecting skeletal development and oral health disparities among children and adolescents: a pathway analysis

“…Rare diseases of genetic origin are often associated with other co-morbid conditions, which are often characterised by debilitating and chronically degenerative conditions related to phenotypes 2 . Patients with rare diseases can sometimes exhibit challenging behaviour and frequently experience physical, mental and sensory impairments, which can have an impact on functioning and participation in everyday life [2][3][4][5] .…”