| Autor: |
Juan Llerena, Jr, Pablo Rosselli, Amanda Aragão, Cristina Valenzuela, Debora Bertola, Yaneth Mendez, Mariana del Pino, Nicolette Calvacanti, Paula Thomazinho, Jeanne M. Pimenta, Shelda Cohen, Tom Butt, José C. Thomaz, Jr, Renée Shediac, Richard Rowell, Tatiana S.P.C. Magalhães, Chong Kim, Virginia Fano |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Genetics in Medicine Open, Vol 2, Iss , Pp 100843- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2949-7744 |
| DOI: |
10.1016/j.gimo.2023.100843 |
| Popis: |
Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia. Methods: Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021. A total of 172 patients participated in the study. Results: Children with achondroplasia reported lower scores compared with average stature children in Quality of Life in Short Stature Youth (QoLISSY) and Pediatric Quality of Life Inventory (PedsQL) questionnaires, with the greatest impact on physical and social domains. Among adolescents, a significant percentage reported pain, 10.3% experienced pain in 3 or more sites. Adults scored lower than the reference population in the EQ-5D-5L Visual Analog Score, and a considerable portion reported moderate to severe anxiety/depression, pain or discomfort, and mobility problems. The Nottingham Health Profile (NHP) revealed poor health status in terms of energy, pain, and mobility. Medical events, particularly musculoskeletal and connective tissue disorders were reported, resulting in high medical resource utilization. Conclusion: Overall, the Lifetime Impact Study for Achondroplasia study provides extensive data on health-related quality of life, psychosocial impact, and health care resource utilization among individuals with achondroplasia in Latin America. The findings confirm a significant burden of illness across multiple domains for these individuals. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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