Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children

doi:10.1186/s13023-016-0478-z

. 2016 Jul 12;11(1):96.

doi: 10.1186/s13023-016-0478-z.

Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children

A Soni-Jaiswal¹, J Mercer², S A Jones², I A Bruce^{3

4}, P Callery⁵

Affiliations

¹ Respiratory and Allergy Centre, Institute of Inflammation and Repair, Faculty of Medical and Human Sciences, University of Manchester, Manchester, M13 9PL, UK. archanasj@gmail.com.
² Willink Unit, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, UK.
³ Respiratory and Allergy Centre, Institute of Inflammation and Repair, Faculty of Medical and Human Sciences, University of Manchester, Manchester, M13 9PL, UK.
⁴ Paediatric ENT Department, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, M13 9WL, UK.
⁵ School of Nursing, Midwifery and Social work, University of Manchester, Manchester, M13 9PL, UK.

PMID: 27406185
PMCID: PMC4942895
DOI: 10.1186/s13023-016-0478-z

Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children

A Soni-Jaiswal et al. Orphanet J Rare Dis. 2016.

. 2016 Jul 12;11(1):96.

doi: 10.1186/s13023-016-0478-z.

Authors

A Soni-Jaiswal¹, J Mercer², S A Jones², I A Bruce^{3

4}, P Callery⁵

Affiliations

¹ Respiratory and Allergy Centre, Institute of Inflammation and Repair, Faculty of Medical and Human Sciences, University of Manchester, Manchester, M13 9PL, UK. archanasj@gmail.com.
² Willink Unit, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, UK.
³ Respiratory and Allergy Centre, Institute of Inflammation and Repair, Faculty of Medical and Human Sciences, University of Manchester, Manchester, M13 9PL, UK.
⁴ Paediatric ENT Department, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, M13 9WL, UK.
⁵ School of Nursing, Midwifery and Social work, University of Manchester, Manchester, M13 9PL, UK.

PMID: 27406185
PMCID: PMC4942895
DOI: 10.1186/s13023-016-0478-z

Abstract

Background: Hematopoietic stem cell transplants, alongside enzyme replacement therapy and good multi-disciplinary care, have dramatically improved the life expectancy in children with Mucopolysaccharidosis (MPS) I, with better objective and functional outcomes. Despite these improvements, children with both the attenuated (non-Hurler) and severe (Hurler) variants of the disease have marked residual morbidity. Children with MPS I suffer with head and neck disease including obstructive sleep apnoea and hearing loss. The impact of these on quality of life has been poorly researched and no previous work has been published looking at patients' perception of their own health, an important domain when considering the impact of treatment.

Methods: This exploratory qualitative study aimed to discover the effect of head and neck disease, alongside that of MPS I as a whole, on the quality of life of affected children. A grounded theory approach was used to conduct this study. Children and their parents were invited to participate in semi-structured interviews. The transcribed interviews were coded and emergent themes explored until saturation occurred.

Results: The families of eleven children with MPS I were interviewed, five with Hurler's and six with the attenuated non-Hurler's. Important themes to emerge were- the fear of dying associated with obstructive sleep apnoea, difficulties communicating at school due to the delayed acquisition of language, chronic pain and restricted mobility, physical differences and restricted participation in social activities such as sports secondary to the musculoskeletal disease burden. The overall theme running through the analysis was the desire to fit in with ones peers.

Conclusion: Parents and children with MPS 1 worry about 'fitting-in' with broader society. The presence of airway disease has a profound impact on the emotional well being of parents whilst language delay and musculoskeletal disease have the biggest impact on the quality of life of the children themselves. It is important to understand the impact of MPS I on the quality of life of children and their families so that we may improve future treatment and management of this sub-group of children who have an increasing life span.

Keywords: Mucopolysaccharidosis I; Musculoskeletal disease; Obstructive sleep apnoea; Otolaryngology; Qualitative research; Quality of life.

PubMed Disclaimer

Cited by

The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland.
Thomas S, Morrison A, Morton G, Roberts P, Clark V, Imrie J. Thomas S, et al. Orphanet J Rare Dis. 2024 Feb 25;19(1):87. doi: 10.1186/s13023-023-03001-z. Orphanet J Rare Dis. 2024. PMID: 38403596 Free PMC article.
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Parini R, Broomfield A, Cleary MA, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Scarpa M, Tylki-Szymańska A, Zeman J. Parini R, et al. Acta Paediatr. 2018 Dec;107(12):2059-2065. doi: 10.1111/apa.14587. Epub 2018 Oct 23. Acta Paediatr. 2018. PMID: 30242902 Free PMC article. Review.
Health-Related Quality of Life Is Severely Affected in Primary Orthostatic Tremor.
Maugest L, McGovern EM, Mazalovic K, Doulazmi M, Apartis E, Anheim M, Bourdain F, Benchetrit E, Czernecki V, Broussolle E, Bonnet C, Falissard B, Jahanshahi M, Vidailhet M, Roze E. Maugest L, et al. Front Neurol. 2018 Jan 15;8:747. doi: 10.3389/fneur.2017.00747. eCollection 2017. Front Neurol. 2018. PMID: 29379467 Free PMC article.
A meta-ethnography of how children and young people with chronic non-cancer pain and their families experience and understand their condition, pain services, and treatments.
France E, Uny I, Turley R, Thomson K, Noyes J, Jordan A, Forbat L, Caes L, Silveira Bianchim M. France E, et al. Cochrane Database Syst Rev. 2023 Oct 5;10(10):CD014873. doi: 10.1002/14651858.CD014873.pub2. Cochrane Database Syst Rev. 2023. PMID: 37795766 Free PMC article. Review.
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
Siddiq S, Wilson BJ, Graham ID, Lamoureux M, Khangura SD, Tingley K, Tessier L, Chakraborty P, Coyle D, Dyack S, Gillis J, Greenberg C, Hayeems RZ, Jain-Ghai S, Kronick JB, Laberge AM, Little J, Mitchell JJ, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Wafa S, Walia J, Wilson K, Yuskiv N, Potter BK; Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Siddiq S, et al. Orphanet J Rare Dis. 2016 Dec 7;11(1):168. doi: 10.1186/s13023-016-0548-2. Orphanet J Rare Dis. 2016. PMID: 27927250 Free PMC article.

See all "Cited by" articles

References

1. Neufield EF, Muenzer J, et al. The mucopolysachharidoses. In: Scriver CBA, Sly W, et al., editors. The metabolic and molecular bases of inherited disease. New York: N: McGraw Hill; 2001. pp. 3421–52.
1. Meikle PJHJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249–54. doi: 10.1001/jama.281.3.249. - DOI - PubMed
1. Moore D, Connock MJ, Wraith E, Lavery C. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis. 2008;3:24. doi: 10.1186/1750-1172-3-24. - DOI - PMC - PubMed
1. Muenzer JWJ, Clarke LA. International Consensus Panel on, Management Treatment of Mucopolysaccharidosis, I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1):19–29. doi: 10.1542/peds.2008-0416. - DOI - PubMed
1. Muenzer JB, Eng C, Giugliani R, Harmetz P, Martin R, Ramaswami U, Vellodi A, et al. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011;50 Suppl 5:v4–12. doi: 10.1093/rheumatology/ker394. - DOI - PubMed

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
Other Literature Sources
- scite Smart Citations

[1] Neufield EF, Muenzer J, et al. The mucopolysachharidoses. In: Scriver CBA, Sly W, et al., editors. The metabolic and molecular bases of inherited disease. New York: N: McGraw Hill; 2001. pp. 3421–52.

[2] Neufield EF, Muenzer J, et al. The mucopolysachharidoses. In: Scriver CBA, Sly W, et al., editors. The metabolic and molecular bases of inherited disease. New York: N: McGraw Hill; 2001. pp. 3421–52.

[3] Meikle PJHJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249–54. doi: 10.1001/jama.281.3.249. - DOI - PubMed

[4] Meikle PJHJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249–54. doi: 10.1001/jama.281.3.249. - DOI - PubMed

[5] Moore D, Connock MJ, Wraith E, Lavery C. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis. 2008;3:24. doi: 10.1186/1750-1172-3-24. - DOI - PMC - PubMed

[6] Moore D, Connock MJ, Wraith E, Lavery C. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis. 2008;3:24. doi: 10.1186/1750-1172-3-24. - DOI - PMC - PubMed

[7] Muenzer JWJ, Clarke LA. International Consensus Panel on, Management Treatment of Mucopolysaccharidosis, I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1):19–29. doi: 10.1542/peds.2008-0416. - DOI - PubMed

[8] Muenzer JWJ, Clarke LA. International Consensus Panel on, Management Treatment of Mucopolysaccharidosis, I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1):19–29. doi: 10.1542/peds.2008-0416. - DOI - PubMed

[9] Muenzer JB, Eng C, Giugliani R, Harmetz P, Martin R, Ramaswami U, Vellodi A, et al. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011;50 Suppl 5:v4–12. doi: 10.1093/rheumatology/ker394. - DOI - PubMed

[10] Muenzer JB, Eng C, Giugliani R, Harmetz P, Martin R, Ramaswami U, Vellodi A, et al. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011;50 Suppl 5:v4–12. doi: 10.1093/rheumatology/ker394. - DOI - PubMed

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children

Affiliations

Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children

Authors

Affiliations

Abstract

Similar articles

Cited by

References

MeSH terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Abstract

Similar articles

Cited by

References

MeSH terms

Related information

LinkOut - more resources

Full Text Sources

Other Literature Sources