Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America
| Autor: | Tatiana Sá Pacheco Carneiro Magalhães, Edna Tiemi Sakata, Chong Ae Kim, Ana Paula Damiano, Martha L. Solano Villareal, Dafne Dain Gandelman Horovitz, Alejandro Fainboim, Roberto Giugliani |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
cognition
Medicine (General) congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Latin Americans MPS ADL Endocrinology Diabetes and Metabolism media_common.quotation_subject Psychological intervention R5-920 Quality of life Medicine In patient pain lysosomal storage diseases Genetics (clinical) media_common Health related quality of life business.industry Cognition mobility Feeling Health assessment quality of life Family medicine Pediatrics Perinatology and Child Health business |
| Zdroj: | Journal of Inborn Errors of Metabolism and Screening v.7 2019 Journal of Inborn Errors of Metabolism and Screening Instituto Genética para Todos (IGPT) instacron:IGPT Journal of Inborn Errors of Metabolism and Screening, Volume: 7, Article number: e20190004, Published: 15 JUL 2019 Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019) |
| Popis: | Mucopolysaccharidoses (MPS) constitute a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans (GAGs). Clinical observations suggest a health-related impairment in quality of life in patients with MPS. Professionals with extensive experience in the care of patients with inborn errors of metabolism, such as MPS, held a meeting in April 2017 to discuss and propose recommendations for the evaluation and management of quality of life in MPS patients in Latin America. In the light of this scenario, the present work summarizes the content of the discussions and presents the recommendations produced at the meeting. The panel had suggested the use of the following tools for the assessment of health-related quality of life (HRQoL): Children's Health Assessment Questionnaire (CHAQ) for children and patients unable to express their feelings, Health Assessments Questionnaire (HAQ) and EuroQol 5 Domains (EQ-5D) scales for adult patients. Based on the scores verified in these scales, the panel proposes interventions that aim reducing the impairment of the quality of life in patients with MPS disorders. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|