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

Ana Paula Vanz, Juliana van de Sande Lee, Bruna Pinheiro, Marina Zambrano, Evelise Brizola, Neusa Sicca da Rocha, Ida Vanessa D Schwartz, Maria Marlene de Souza Pires, Têmis Maria Félix, Ana Paula Vanz, Juliana van de Sande Lee, Bruna Pinheiro, Marina Zambrano, Evelise Brizola, Neusa Sicca da Rocha, Ida Vanessa D Schwartz, Maria Marlene de Souza Pires, Têmis Maria Félix

Abstract

Background: Osteogenesis 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.

Methods: In 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.

Results: The 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.

Conclusions: Overall, 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.

Keywords: Adolescent; Child; Osteogenesis imperfecta; Quality of life; Sickness impact profile.

Conflict of interest statement

Ethics approval and consent to participate

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. The study was approved by the research ethics committees of both institutions and was conducted in accordance with the provisions of the Declaration of Helsinki (Research Ethics Committee at Hospital de Clínicas de Porto Alegre, CAAE: 19041613.7.0000.5327 and Research Ethics Committee at Joana Gusmão Hospital, CAAE: 19041613.7.3001.536). All parents or guardians provided written informed consent prior to patients’ inclusion in the study.

Consent for publication

Not applicable.

Competing interests

Not applicable.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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