Research Article
Year 2022,
Volume: 5 Issue: 2, 206 - 211, 01.05.2022
Abstract
References
- Barak S, Anikster Y, Sarouk I, Stern E, Eisenstein E, Yissar T, Sherr-Lurie N, Raas-Rothschild A, Guttman D. 2020. Long-term outcomes of early enzyme replacement therapy for mucopolysaccharidosis IV: clinical case studies of two siblings. Diagnostics, 10(2): 108.
- Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E. 2020. Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England. Mol Genet Metab, 129(2): 98-105.
- Bumin G, Günal A, Tükel Ş. 2008. Anxiety, depression and quality of life in mothers of disabled children. Med J SDU, 15(1): 6-11.
- Çakaloz B, Kurul S. 2005. Duchenne muskuler distrofili çocukların aile işlevlerinin ve annelerinde depresyon ve kaygı düzeylerinin araştırılması. Klin Psikiyatr Derg, 8: 24-30.
- Do Cao J, Wiedemann A, Quinaux T, Battaglia-Hsu S, Mainard L, Froissart R, Bonnemains C, Ragot S, Leheup B, Journeau P. 2016. 30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case. Mol Genet Metab Rep, 9: 42-45.
- Erkin G, Aybay C. 2001. Pediatrik rehabilitasyonda kullanılan fonksiyonel değerlendirme metodları. Turk Fiz Tıp Rehabil, 47(2): 7.
- Guarany NR, Vanz AP, Wilke MVMB, Bender DD, Borges MD, Giugliani R, Schwartz IVD. 2015. Mucopolysaccharidosis: caregiver quality of life. J Inborn Errors Metab Screen, 3: 2326409815613804.
- Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MCS, Yu Z-F, Swiedler SJ, Hopwood JJ. 2005. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics, 115(6): 681-689.
- Heese BA. 2008. Current strategies in the management of lysosomal storage diseases. Semin Pediatr Neurol, 15(3): 119-126.
- Hendriksz CJ, Berger KI, Lampe C, Kircher SG, Orchard PJ, Southall R, Long S, Sande S, Gold JI. 2016. Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues. Orphanet J Rare Dis, 11(1): 1-15.
- Hisli N. 1989. Beck depresyon envanterinin universite ogrencileri icin gecerliligi, guvenilirligi. (A reliability and validity study of Beck Depression Inventory in a university student sample). J Psychol, 7: 3-13.
- Kim KR, Lee E, Namkoong K, Lee YM, Lee JS, Kim HD. 2010. Caregiver's burden and quality of life in mitochondrial disease. Pediatr Neurol, 42(4): 271-276.
- Lee CL, Lin HY, Chuang CK, Chiu HC, Tu RY, Huang YH, Hwu WL, Tsai FJ, Chiu PC, Niu DM. 2019. Functional independence of Taiwanese patients with mucopolysaccharidoses. Mol Genet Genomic Med, 7(8): 790.
- Lopes PS, Serra Filho DP, Matos MAA. 2019. Functional independence of pediatric patients with mucopolysaccharidoses. Acta Ortop Bras, 27(4): 212-215.
- Lynch SM, Leahy P, Barker SP. 1998. Reliability of measurements obtained with a modified functional reach test in subjects with spinal cord injury. Phys Ther, 78(2): 128-133.
- Mohan U, Hay A, Cleary M, Wraith J, Patel R. 2002. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr, 91(7): 799-804.
- Muenzer J. 2011. Overview of the mucopolysaccharidoses. Rheumatology, 50(sup5): 4-12.
- Muenzer J. 2014. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab, 111(2): 63-72.
- Needham M, Packman W, Quinn N, Rappoport M, Aoki C, Bostrom A, Cordova M, Macias S, Morgan C, Packman S. 2015. Health‐related quality of life in patients with MPS II. J Genet Couns, 24(4): 635-644.
- Ones K, Yilmaz E, Cetinkaya B, Caglar N. 2005. Assessment of the quality of life of mothers of children with cerebral palsy (primary caregivers). Neurorehabil Neural Repair, 19(3): 232-237.
- Özalevli S, Irmak R. 2011. Soru ve cevaplarla 6-dakika yürüme testi sık kullanılan egzersiz testleri serisi 1. Google Commerce Ltd., ISBN: 9786058940833, pp: 17.
- Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz I, Harmatz P, Wraith JE, Roberts J, Ketteridge D, Hopwood JJ. 2005. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux–Lamy syndrome). Am J Med Genet, 134(2): 144-150.
- Ulusoy M, Sahin NH, Erkmen H. 1998. The Beck anxiety inventory: psychometric properties. J Cogn Psychother, 12(2): 163-172.
- Valayannopoulos V, Wijburg FA. 2011. Therapy for the mucopolysaccharidoses. Rheumatol, 50(sup5): 49-59.
- Varni JW, Seid M, Kurtin PS 2001. PedsQL™ 4.0: Reliability and validity of the Pediatric Quality of Life Inventory™ Version 4.0 generic core scales in healthy and patient populations. Med Care, 39: 800-812.
- Williams EN, Carroll SG, Reddihough DS, Phillips BA, Galea MP. 2005. Investigation of the timed ‘up & go’test in children. Dev Med Child Neurol, 47(8): 518-524.
- Wraith JE. 2006. Limitations of enzyme replacement therapy: current and future. J Inherit Metab Dis, 29(2-3): 442-47.
- Yıldız Y, Sivri HS. 2016. Mukopolisakkaridozlarda ortopedik sorunlar. TOTBID Derg, 15(4): 303-310.
- Zhou J, Lin J, Leung WT, Wang L. 2020. A basic understanding of mucopolysaccharidosis: incidence, clinical features, diagnosis, and management. Intractable Rare Dis Res, 9(1): 1-9.
Effects of Enzyme Replacement Therapy on Quality of Life, Functional Independence and Aerobic Capacity in Children with Mucopolysaccharidosis
Abstract
: The mucopolysaccharidosis (MPS) can lead to poor endurance and mobility, often associated with pain, restricted range of motion (ROM), low energy levels and fatigue, negatively affecting quality of life and activities of daily living. This study aimed to examine the impact of enzyme replacement therapy (ERT) on aerobic capacity, functional independence and quality of life in children with MPS and to determine the anxiety and depression levels of their caregivers. Study Design established in Cross sectional study. Twelve children aged 3 to 11 years were included in the study. The subjects were divided into two groups according to the use of ERT. Quality of life and functional independence were assessed using the Pediatric Quality of Life Inventory (PedsQL) and Functional Independence Measure for Children (WeeFIM). The 6-minute walk test (6MWT) and timed up and go test (TUG) were used to evaluate aerobic capacity. Anxiety and depression levels of parents were assessed using the Beck Anxiety Inventory (BAI) and Beck Depression Inventory (BDI), respectively. A total of 12 MPS patients 7 boys (58.3%) and 5 girls (41.7%) with a mean age of 5.58±2.67 years were included in the study.1 patient had MPS type I, 2 patients had MPS type III, 5 patients had MPS type IV, and 4 patients had MPS type VI. Six patients were receiving ERT. The children had a mean 6MWT score of 330.83±114.29, a mean TUG score of 14.24±5.71 sec, a mean PedsQL score of 46.83±14.03 and a mean WeeFIM score of 70.83±26.85. Their caregivers had a mean BAI score of 19.25±10.95 and a mean BDI score of 19.41±6.81. A significant difference was found between the children receiving ERT and those not receiving in the WeeFIM scores (P<0.05); other parameters were comparable between the groups (P>0.05). ERT did not change aerobic capacity and quality of children with MPS but increased their level of functional independence. Multisystem involvement in MPS children may affect anxiety and depression levels of their caregivers but ERT does not seem to have any effect on this psychosocial aspect.
References
- Barak S, Anikster Y, Sarouk I, Stern E, Eisenstein E, Yissar T, Sherr-Lurie N, Raas-Rothschild A, Guttman D. 2020. Long-term outcomes of early enzyme replacement therapy for mucopolysaccharidosis IV: clinical case studies of two siblings. Diagnostics, 10(2): 108.
- Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E. 2020. Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England. Mol Genet Metab, 129(2): 98-105.
- Bumin G, Günal A, Tükel Ş. 2008. Anxiety, depression and quality of life in mothers of disabled children. Med J SDU, 15(1): 6-11.
- Çakaloz B, Kurul S. 2005. Duchenne muskuler distrofili çocukların aile işlevlerinin ve annelerinde depresyon ve kaygı düzeylerinin araştırılması. Klin Psikiyatr Derg, 8: 24-30.
- Do Cao J, Wiedemann A, Quinaux T, Battaglia-Hsu S, Mainard L, Froissart R, Bonnemains C, Ragot S, Leheup B, Journeau P. 2016. 30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case. Mol Genet Metab Rep, 9: 42-45.
- Erkin G, Aybay C. 2001. Pediatrik rehabilitasyonda kullanılan fonksiyonel değerlendirme metodları. Turk Fiz Tıp Rehabil, 47(2): 7.
- Guarany NR, Vanz AP, Wilke MVMB, Bender DD, Borges MD, Giugliani R, Schwartz IVD. 2015. Mucopolysaccharidosis: caregiver quality of life. J Inborn Errors Metab Screen, 3: 2326409815613804.
- Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MCS, Yu Z-F, Swiedler SJ, Hopwood JJ. 2005. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics, 115(6): 681-689.
- Heese BA. 2008. Current strategies in the management of lysosomal storage diseases. Semin Pediatr Neurol, 15(3): 119-126.
- Hendriksz CJ, Berger KI, Lampe C, Kircher SG, Orchard PJ, Southall R, Long S, Sande S, Gold JI. 2016. Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues. Orphanet J Rare Dis, 11(1): 1-15.
- Hisli N. 1989. Beck depresyon envanterinin universite ogrencileri icin gecerliligi, guvenilirligi. (A reliability and validity study of Beck Depression Inventory in a university student sample). J Psychol, 7: 3-13.
- Kim KR, Lee E, Namkoong K, Lee YM, Lee JS, Kim HD. 2010. Caregiver's burden and quality of life in mitochondrial disease. Pediatr Neurol, 42(4): 271-276.
- Lee CL, Lin HY, Chuang CK, Chiu HC, Tu RY, Huang YH, Hwu WL, Tsai FJ, Chiu PC, Niu DM. 2019. Functional independence of Taiwanese patients with mucopolysaccharidoses. Mol Genet Genomic Med, 7(8): 790.
- Lopes PS, Serra Filho DP, Matos MAA. 2019. Functional independence of pediatric patients with mucopolysaccharidoses. Acta Ortop Bras, 27(4): 212-215.
- Lynch SM, Leahy P, Barker SP. 1998. Reliability of measurements obtained with a modified functional reach test in subjects with spinal cord injury. Phys Ther, 78(2): 128-133.
- Mohan U, Hay A, Cleary M, Wraith J, Patel R. 2002. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr, 91(7): 799-804.
- Muenzer J. 2011. Overview of the mucopolysaccharidoses. Rheumatology, 50(sup5): 4-12.
- Muenzer J. 2014. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab, 111(2): 63-72.
- Needham M, Packman W, Quinn N, Rappoport M, Aoki C, Bostrom A, Cordova M, Macias S, Morgan C, Packman S. 2015. Health‐related quality of life in patients with MPS II. J Genet Couns, 24(4): 635-644.
- Ones K, Yilmaz E, Cetinkaya B, Caglar N. 2005. Assessment of the quality of life of mothers of children with cerebral palsy (primary caregivers). Neurorehabil Neural Repair, 19(3): 232-237.
- Özalevli S, Irmak R. 2011. Soru ve cevaplarla 6-dakika yürüme testi sık kullanılan egzersiz testleri serisi 1. Google Commerce Ltd., ISBN: 9786058940833, pp: 17.
- Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz I, Harmatz P, Wraith JE, Roberts J, Ketteridge D, Hopwood JJ. 2005. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux–Lamy syndrome). Am J Med Genet, 134(2): 144-150.
- Ulusoy M, Sahin NH, Erkmen H. 1998. The Beck anxiety inventory: psychometric properties. J Cogn Psychother, 12(2): 163-172.
- Valayannopoulos V, Wijburg FA. 2011. Therapy for the mucopolysaccharidoses. Rheumatol, 50(sup5): 49-59.
- Varni JW, Seid M, Kurtin PS 2001. PedsQL™ 4.0: Reliability and validity of the Pediatric Quality of Life Inventory™ Version 4.0 generic core scales in healthy and patient populations. Med Care, 39: 800-812.
- Williams EN, Carroll SG, Reddihough DS, Phillips BA, Galea MP. 2005. Investigation of the timed ‘up & go’test in children. Dev Med Child Neurol, 47(8): 518-524.
- Wraith JE. 2006. Limitations of enzyme replacement therapy: current and future. J Inherit Metab Dis, 29(2-3): 442-47.
- Yıldız Y, Sivri HS. 2016. Mukopolisakkaridozlarda ortopedik sorunlar. TOTBID Derg, 15(4): 303-310.
- Zhou J, Lin J, Leung WT, Wang L. 2020. A basic understanding of mucopolysaccharidosis: incidence, clinical features, diagnosis, and management. Intractable Rare Dis Res, 9(1): 1-9.
There are 29 citations in total.
Details
| Primary Language | English |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Research Article |
| Authors | |
| Publication Date | May 1, 2022 |
| Submission Date | September 15, 2021 |
| Acceptance Date | January 25, 2022 |
| Published in Issue | Year 2022 Volume: 5 Issue: 2 |
