Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.
Caregiver
Disability
Mucopolysaccharidoses
Qualitative survey
Quality of life
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:
23 12 2022
23 12 2022
Historique:
received:
24
06
2022
accepted:
07
12
2022
entrez:
23
12
2022
pubmed:
24
12
2022
medline:
28
12
2022
Statut:
epublish
Résumé
Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused by defective enzyme activity involved in the catalysis of glycosaminoglycans. Published data on adult patients with MPS remains scarce. Therefore, the present qualitative survey study was aimed at understanding knowledge of the disease, unmet needs, expectations, care, and overall medical management of adult/adolescent patients with MPS I, II and VI and their caregivers in France. A total of 25 patients (MPS I, n The survey concluded that more attention must be paid to the psychosocial status of patients and caregivers. The preference for reference centre for follow-up and treatment, hospitalizations and surgeries were evident. The most significant needs expressed by the patients and caregivers include better understanding of the disease, pain management, monitoring of complications, flexibility in enzyme replacement therapy, home infusions especially for attenuated patients, and improved transitional support from paediatric to adult medicine.
Sections du résumé
BACKGROUND
Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused by defective enzyme activity involved in the catalysis of glycosaminoglycans. Published data on adult patients with MPS remains scarce. Therefore, the present qualitative survey study was aimed at understanding knowledge of the disease, unmet needs, expectations, care, and overall medical management of adult/adolescent patients with MPS I, II and VI and their caregivers in France.
RESULTS
A total of 25 patients (MPS I, n
CONCLUSIONS
The survey concluded that more attention must be paid to the psychosocial status of patients and caregivers. The preference for reference centre for follow-up and treatment, hospitalizations and surgeries were evident. The most significant needs expressed by the patients and caregivers include better understanding of the disease, pain management, monitoring of complications, flexibility in enzyme replacement therapy, home infusions especially for attenuated patients, and improved transitional support from paediatric to adult medicine.
Identifiants
pubmed: 36564803
doi: 10.1186/s13023-022-02593-2
pii: 10.1186/s13023-022-02593-2
pmc: PMC9786416
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
448Informations de copyright
© 2022. The Author(s).
Références
Patient. 2021 Sep;14(5):601-612
pubmed: 33660162
Orphanet J Rare Dis. 2016 Oct 10;11(1):138
pubmed: 27724940
J Patient Rep Outcomes. 2019 Jul 23;3(1):44
pubmed: 31338630
Eur J Intern Med. 2016 Oct;34:2-10
pubmed: 27296591
Orphanet J Rare Dis. 2019 May 29;14(1):118
pubmed: 31142378
N Engl J Med. 2001 Jan 18;344(3):182-8
pubmed: 11172140
Ital J Pediatr. 2018 Nov 16;44(Suppl 2):120
pubmed: 30442189
J Child Health Care. 2014 Sep;18(3):230-40
pubmed: 23754839
Am J Med Genet A. 2021 Nov;185(11):3418-3426
pubmed: 34410034
Int J Environ Res Public Health. 2020 Dec 02;17(23):
pubmed: 33276595
J Pediatr Nurs. 2012 Dec;27(6):642-51
pubmed: 23101728
BMC Res Notes. 2018 Jan 15;11(1):28
pubmed: 29334993
Biomed Res Int. 2020 Dec 4;2020:2408402
pubmed: 33344633
Diagnostics (Basel). 2021 Feb 10;11(2):
pubmed: 33578874
Pediatrics. 2009 Jan;123(1):229-40
pubmed: 19117887
Orphanet J Rare Dis. 2010 Apr 12;5:5
pubmed: 20385007
Orphanet J Rare Dis. 2021 Nov 3;16(1):464
pubmed: 34732228
Can J Hosp Pharm. 2014 Nov;67(6):436-40
pubmed: 25548401
Clin Nurs Res. 2020 Feb;29(2):117-126
pubmed: 29862835
Pediatrics. 2007 Jul;120(1):e37-46
pubmed: 17606547
Genet Mol Biol. 2010 Oct;33(4):589-604
pubmed: 21637564
JIMD Rep. 2019;44:33-41
pubmed: 29980992
Orphanet J Rare Dis. 2021 May 29;16(1):241
pubmed: 34051828
Orphanet J Rare Dis. 2015 Apr 12;10:43
pubmed: 25887606
Genet Med. 2018 Nov;20(11):1423-1429
pubmed: 29517765
JIMD Rep. 2015;20:87-93
pubmed: 25614312
J Inherit Metab Dis. 2015 Mar;38(2):323-31
pubmed: 25048386
J Pediatr Rehabil Med. 2010;3(2):89-100
pubmed: 20634905
Orphanet J Rare Dis. 2022 Feb 21;17(1):68
pubmed: 35189927
Mol Genet Metab. 2007 Feb;90(2):171-80
pubmed: 17011223
Mol Genet Metab. 2009 Jan;96(1):13-9
pubmed: 19038563
Am J Med Genet A. 2011 Jan;155A(1):58-68
pubmed: 21204211
Scand J Caring Sci. 2004 Jun;18(2):145-53
pubmed: 15147477
Front Med (Lausanne). 2021 Feb 25;8:652358
pubmed: 33738294
Rheumatology (Oxford). 2021 Dec 1;60(12):5601-5609
pubmed: 33587103
Mol Genet Metab Rep. 2019 Oct 21;21:100508
pubmed: 31687335
Acta Paediatr. 2012 Apr;101(4):e183-8
pubmed: 22077147
Orphanet J Rare Dis. 2016 Aug 26;11(1):119
pubmed: 27561270
Int J Mol Sci. 2021 Jul 23;22(15):
pubmed: 34360653