Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America

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art_GIUGLIANI_Recommendations_for_Assessment_and_Management_of_HealthRelated_Quality_2019.PDF (190.82 KB)
Citações na Scopus
1
Tipo de produção
article
Data de publicação
2019
DOI
SciELO
Scopus
Título da Revista
ISSN da Revista
Título do Volume
Editora
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
Autores
GIUGLIANI, Roberto
FAINBOIM, Alejandro
HOROVITZ, Dafne Dain Gandelman
SAKATA, Edna Tiemi
DAMIANO, Ana Paula
MAGALHÃES, Tatiana Sá Pacheco Carneiro
VILLAREAL, Martha Solano
Citação
JOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING, v.7, p.e20190004, 2019
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Abstract 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.
Palavras-chave
lysosomal storage diseases, MPS, quality of life, ADL, cognition, mobility, pain
URI
https://observatorio.fm.usp.br/handle/OPI/33362
Referências
  1. Aslam R, 2013, JIMD REP, V9, P59, DOI 10.1007/8904_2012_179
  2. Becker N, 1997, PAIN, V73, P393, DOI 10.1016/S0304-3959(97)00126-7
  3. Bergwerk Katherine L, 2003, ScientificWorldJournal, V3, P922
  4. Brands MMG, 2015, J INHERIT METAB DIS, V38, P323, DOI 10.1007/s10545-014-9737-0
  5. Bruce B, 2003, J RHEUMATOL, V30, P167
  6. Bruce B, 2003, Health Qual Life Outcomes, V1
  7. Chaudhuri A, 2004, LANCET, V363, P978, DOI 10.1016/S0140-6736(04)15794-2
  8. CLEARY MA, 1993, ARCH DIS CHILD, V69, P403, DOI 10.1136/adc.69.3.403
  9. Doward LC, 2010, Health Qual Life Outcomes, V8
  10. Drummond M, 2014, EUR J HEALTH ECON, V15, P335, DOI 10.1007/s10198-014-0560-1
  11. ESTEVEVIVES J, 1993, J RHEUMATOL, V20, P2116
  12. FRIES JF, 1980, ARTHRITIS RHEUM, V23, P137, DOI 10.1002/art.1780230202
  13. Harmatz P, 2013, MOL GENET METAB, V109, P54, DOI 10.1016/j.ymgme.2013.01.021
  14. Hendriksz CJ, 2016, ORPHANET J RARE DIS, V11, DOI 10.1186/s13023-016-0503-2
  15. Hendriksz CJ, 2015, MOL GENET METAB, V114, P178, DOI 10.1016/j.ymgme.2014.08.012
  16. Hendriksz CJ, 2013, J INHERIT METAB DIS, V36, P309, DOI 10.1007/s10545-012-9459-0
  17. Hendriksz CJ, 2014, J. Inborn Errors Metab. Screen, V9
  18. Huguet A, 2008, J PAIN, V9, P226, DOI 10.1016/j.jpain.2007.10.015
  19. Kato T, 2007, BRAIN DEV-JPN, V29, P298, DOI 10.1016/j.braindev.2006.08.015
  20. Machado CSM, 2001, CLIN EXP RHEUMATOL, V19, pS25
  21. Marucha J, 2012, ACTA PAEDIATR, V101, pE183, DOI 10.1111/j.1651-2227.2011.02522.x
  22. Menezes RD, 2015, QUAL LIFE RES, V24, P2761, DOI 10.1007/s11136-015-0994-7
  23. Montano AM, 2007, J INHERIT METAB DIS, V30, P165, DOI 10.1007/s10545-007-0529-7
  24. Monteiro Edilene Araújo, 2015, Rev. Bras. Enferm., V68, P421, DOI 10.1590/0034-7167.2015680307i
  25. NEUFELD EF, 1995, METABOLIC MOL BASES, P3421
  26. Noh H, 2014, J CLIN PHARM THER, V39, P215, DOI 10.1111/jcpt.12136
  27. Orlandi Aline Cristina, 2014, Sao Paulo Med. J., V132, P163, DOI 10.1590/1516-3180.2014.1323621
  28. Politei JM, 2018, J PAIN SYMPTOM MANAG, V56, P146, DOI 10.1016/j.jpainsymman.2018.03.023
  29. Raluy-Callado M, 2013, ORPHANET J RARE DIS, V8, DOI 10.1186/1750-1172-8-101
  30. Ravens-Sieberer U, 2010, QUAL LIFE RES, V19, P887, DOI 10.1007/s11136-010-9649-x
  31. Riazi A, 2006, Int MS J, V13, P92
  32. Shapiro E, 2018, MOL GENET METAB, V123, P123, DOI 10.1016/j.ymgme.2017.11.014
  33. Shapiro EG, 2017, MOL GENET METAB, V122, P8, DOI 10.1016/j.ymgme.2017.09.007
  34. Simonaro CM, 2005, PEDIATR RES, V57, P701, DOI 10.1203/01.PDR.0000156510.96253.5A
  35. SINGH G, 1994, ARTHRITIS RHEUM, V37, P1761, DOI 10.1002/art.1780371209
  36. Somanadhan S, 2016, Orphanet J Rare Dis, V11
  37. Soni-Jaiswal A, 2016, Orphanet J Rare Dis, V11
  38. Swiedler SJ, 2005, AM J MED GENET A, V134A, P144, DOI 10.1002/ajmg.a.30579
  39. Tomatsu S, 2011, CURR PHARM BIOTECHNO, V12, P931, DOI 1389-2010/11 $58.00+.00
  40. White K, 2010, J PEDIATR REHAB MED, V3, P57, DOI 10.3233/PRM-2010-0103
  41. Wille N, 2010, QUAL LIFE RES, V19, P875, DOI 10.1007/s11136-010-9648-y
  42. Wraith JE, 2004, J PEDIATR-US, V144, P581, DOI 10.1016/j.jpeds.2004.01.046
  43. The On-Line Guide to Quality-of-Life Assessment
  44. Health-Related Quality of Life (HRQOL)
  45. The Patient Reported Outcomes and Quality of Life Instrument database (PROQOLID)

Coleções
Artigos e Materiais de Revistas Científicas - FM/MPE
Artigos e Materiais de Revistas Científicas - LIM/36