Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.
Hearing
Mucopolysaccharidosis
Patient-reported outcomes
Quality of life
Review
Senses
Smell
Taste
Touch
Vision
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
19 04 2020
19 04 2020
Historique:
received:
19
08
2019
accepted:
24
03
2020
entrez:
21
4
2020
pubmed:
21
4
2020
medline:
22
6
2021
Statut:
epublish
Résumé
The mucopolysaccharidoses (MPSs) are lysosomal storage disorders associated with progressive multi-organ and skeletal abnormalities. Clinical manifestations can affect each of the five senses: hearing, vision, smell, taste, and touch. On 24-26 May 2018, 46 specialists with expertise in managing symptoms of MPS and experts specialized in evaluating and managing impairments in each one of the five senses gathered in Lisbon, Portugal at the "MPS & the five senses" meeting to discuss how loss of one or multiple senses can affect activities of daily living (ADL) and quality of life (QoL) in MPS patients and best practices in evaluating and managing the loss of senses in these individuals. The meeting confirmed that MPS can affect the senses considerably, but how these impairments affect ADL and overall QoL from a patient's perspective remains unclear. A better insight may be achieved by prospectively collecting patient-reported outcome (PRO) data internationally in a standardized way, using a standard battery of tools. To identify relevant PRO tools, a systematic literature review and a selection of existing published questionnaires, focused on adults with no intellectual delay, were performed after the meeting. The search strategy identified 33 PRO tools for hearing, 30 for speech, 125 for vision, 49 for touch (including pain and upper limb function), and 15 for smell/taste. A further selection was made based on several criteria, including applicability/relevance for MPS, applicability in different countries (languages)/cultures, availability in English, ease of use, validation, and normative data, resulting in a final set of 11 tools. In addition to these sense-specific PRO tools, a general QoL tool, the EuroQol (EQ)-5D-5 L, was selected to assess overall QoL and reveal coping behaviors. MPS can affect each of the five senses, but current knowledge on the impact of sense impairments on QoL/ADL in MPS patients remains limited. Collection of data in a standardized fashion using sense-specific patient-reported outcome tools and a general QoL tool may fill the current knowledge gap.
Sections du résumé
BACKGROUND
The mucopolysaccharidoses (MPSs) are lysosomal storage disorders associated with progressive multi-organ and skeletal abnormalities. Clinical manifestations can affect each of the five senses: hearing, vision, smell, taste, and touch. On 24-26 May 2018, 46 specialists with expertise in managing symptoms of MPS and experts specialized in evaluating and managing impairments in each one of the five senses gathered in Lisbon, Portugal at the "MPS & the five senses" meeting to discuss how loss of one or multiple senses can affect activities of daily living (ADL) and quality of life (QoL) in MPS patients and best practices in evaluating and managing the loss of senses in these individuals. The meeting confirmed that MPS can affect the senses considerably, but how these impairments affect ADL and overall QoL from a patient's perspective remains unclear. A better insight may be achieved by prospectively collecting patient-reported outcome (PRO) data internationally in a standardized way, using a standard battery of tools. To identify relevant PRO tools, a systematic literature review and a selection of existing published questionnaires, focused on adults with no intellectual delay, were performed after the meeting. The search strategy identified 33 PRO tools for hearing, 30 for speech, 125 for vision, 49 for touch (including pain and upper limb function), and 15 for smell/taste. A further selection was made based on several criteria, including applicability/relevance for MPS, applicability in different countries (languages)/cultures, availability in English, ease of use, validation, and normative data, resulting in a final set of 11 tools. In addition to these sense-specific PRO tools, a general QoL tool, the EuroQol (EQ)-5D-5 L, was selected to assess overall QoL and reveal coping behaviors.
SHORT CONCLUSION
MPS can affect each of the five senses, but current knowledge on the impact of sense impairments on QoL/ADL in MPS patients remains limited. Collection of data in a standardized fashion using sense-specific patient-reported outcome tools and a general QoL tool may fill the current knowledge gap.
Identifiants
pubmed: 32306998
doi: 10.1186/s13023-020-01368-x
pii: 10.1186/s13023-020-01368-x
pmc: PMC7168888
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
97Références
J Appl Physiol (1985). 1999 Apr;86(4):1202-10
pubmed: 10194204
Consult Pharm. 2016 Nov 1;31(11):624-632
pubmed: 28107119
Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):944-9
pubmed: 24731921
Hear Res. 2014 Apr;310:60-8
pubmed: 24524865
Dev Med Child Neurol. 2017 Dec;59(12):1269-1275
pubmed: 28892147
J Child Orthop. 2017 Aug 1;11(4):289-297
pubmed: 28904635
J Pediatr (Rio J). 2008 Mar-Apr;84(2):130-5
pubmed: 18338089
Eur Arch Otorhinolaryngol. 2011 Jul;268(7):1005-8
pubmed: 21327998
Mol Genet Metab. 2018 Feb;123(2):127-134
pubmed: 29248359
Optom Vis Sci. 2013 Aug;90(8):720-44
pubmed: 23873034
Otolaryngol Head Neck Surg. 2016 Aug;155(2):208-19
pubmed: 27118820
Am J Med Genet A. 2017 Feb;173(2):375-383
pubmed: 27774754
J Pediatr Orthop. 2014 Sep;34(6):650-4
pubmed: 24598580
J Cataract Refract Surg. 2010 Jul;36(7):1181-8
pubmed: 20610098
Otolaryngol Head Neck Surg. 1999 Feb;120(2):153-8
pubmed: 9949345
Br J Ophthalmol. 2016 May;100(5):588-93
pubmed: 26917676
J Child Orthop. 2014 Aug;8(4):295-304
pubmed: 25001525
Head Neck. 2008 Jul;30(7):868-74
pubmed: 18302270
J Rehabil Med. 2012 Mar;44(3):261-7
pubmed: 22366782
Laryngoscope. 1995 Apr;105(4 Pt 1):387-90
pubmed: 7715384
Am J Med Genet A. 2015 Jan;167A(1):11-25
pubmed: 25346323
J Inherit Metab Dis. 2012 Mar;35(2):343-53
pubmed: 21866356
Mol Genet Metab Rep. 2018 Apr 05;15:116-120
pubmed: 30023300
Int J Pediatr Otorhinolaryngol. 2013 Aug;77(8):1255-8
pubmed: 23773334
PM R. 2015 Nov;7(11 Suppl):S295-S315
pubmed: 26568508
Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v4-12
pubmed: 22210669
Int J Audiol. 2003 Jul;42 Suppl 2:2S17-20
pubmed: 12918624
Otolaryngol Head Neck Surg. 1997 Jul;117(1):12-7
pubmed: 9230316
Int J Pediatr Otorhinolaryngol. 2018 Aug;111:149-152
pubmed: 29958599
J Voice. 2012 Jul;26(4):462-5
pubmed: 21816570
J Bone Joint Surg Am. 2005 May;87(5):1038-46
pubmed: 15866967
BMC Ear Nose Throat Disord. 2006 May 05;6:9
pubmed: 16677392
Arch Neurol. 1974 Dec;31(6):418-22
pubmed: 4280298
Clinics (Sao Paulo). 2018 Dec 03;73:e523
pubmed: 30517303
J Pediatr Rehabil Med. 2010;3(1):57-62
pubmed: 21791830
Turk J Pediatr. 2018;60(4):400-406
pubmed: 30859764
Qual Life Res. 2011 Dec;20(10):1727-36
pubmed: 21479777
J Inherit Metab Dis. 2013 Mar;36(2):339-55
pubmed: 23385297
Cochrane Database Syst Rev. 2017 Apr 24;4:CD011279
pubmed: 28436583
Orphanet J Rare Dis. 2014 Mar 07;9:32
pubmed: 24602160
West J Nurs Res. 2016 May;38(5):596-628
pubmed: 26604219
Logoped Phoniatr Vocol. 2014 Apr;39(1):30-7
pubmed: 23516972
Int J Audiol. 2019 Sep;58(9):565-575
pubmed: 31017493
Curr Allergy Asthma Rep. 2019 Feb 22;19(2):14
pubmed: 30796536
J Pediatr Rehabil Med. 2010;3(1):47-56
pubmed: 21791829
Mol Genet Metab. 2012 Sep;107(1-2):15-24
pubmed: 22938833
Ear Hear. 2009 Aug;30(4):466-74
pubmed: 19494777
J Am Acad Audiol. 2005 Oct;16(9):637-52
pubmed: 16515136
J Am Geriatr Soc. 2015 Oct;63(10):2099-104
pubmed: 26480972
Dev Med Child Neurol. 2016 Nov;58(11):1172-1179
pubmed: 27097935
Clin Oral Investig. 2018 Jan;22(1):201-208
pubmed: 28315965
J Hand Surg Eur Vol. 2014 Feb;39(2):140-4
pubmed: 23520389
JAMA Ophthalmol. 2016 Oct 1;134(10):1087-1093
pubmed: 27467140
Br J Ophthalmol. 2017 Jul;101(7):909-912
pubmed: 27688591
Pain. 1985 Dec;23(4):345-56
pubmed: 4088697
Am J Audiol. 2014 Jun;23(2):173-81
pubmed: 24687018
Chem Senses. 2017 Sep 1;42(7):513-523
pubmed: 28531300
ScientificWorldJournal. 2003 Oct 05;3:922-9
pubmed: 15241497
Exp Brain Res. 2017 Feb;235(2):471-480
pubmed: 27785548
J Hand Surg Am. 1999 Mar;24(2):398-404
pubmed: 10194028
JIMD Rep. 2016;29:53-58
pubmed: 26615596
Ital J Pediatr. 2018 Nov 16;44(Suppl 2):125
pubmed: 30442167
Audiol Neurootol. 2008;13(3):206-12
pubmed: 18212495
JIMD Rep. 2013;9:59-65
pubmed: 23430548
Health Qual Life Outcomes. 2003 Jun 09;1:20
pubmed: 12831398
Int J Pediatr Otorhinolaryngol. 2010 Jan;74(1):27-31
pubmed: 19931921
J Hand Surg Eur Vol. 2015 Feb;40(2):216-8
pubmed: 24554690
J Speech Lang Hear Res. 2017 Jan 1;60(1):62-88
pubmed: 28030869
Eur J Health Econ. 2016 Apr;17 Suppl 1:89-98
pubmed: 27062257
Orphanet J Rare Dis. 2016 Aug 26;11(1):119
pubmed: 27561270
World Allergy Organ J. 2014 Oct 27;7(1):25
pubmed: 25379119
Nat Chem Biol. 2012 Jan 08;8(2):197-204
pubmed: 22231271