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Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey.

Hendriksz CJ, Lavery C, Coker M, Ucar SK, Jain M, Bell L, Lampe C - Orphanet J Rare Dis (2014)

Bottom Line: High wheelchair reliance significantly reduced QoL.Their QoL reduces dramatically if they always have to use their wheelchair.Maintenance of functional capacity and mobility paired with better pain management are likely to improve QoL.

View Article: PubMed Central - HTML - PubMed

Affiliation: Manchester Academic Health Science Centre, The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Salford, UK. chris.hendriksz@srft.nhs.uk.

ABSTRACT

Background: Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL).

Methods: This patient-reported outcomes survey evaluated the global burden of Morquio A among adults (≥18 years, N = 27) and children (7-17 years, N = 36), including the impact on mobility, QoL, pain and fatigue. QoL was assessed using the general Health-Related Quality of Life (HRQoL) questionnaire (the EuroQol [EQ]-5D-5L). Pain and pain interference with daily activities were assessed using the Brief Pain Inventory Short Form (BPI-SF) in adults and the Adolescent Pediatric Pain Tool (APPT) in children. Fatigue was assessed by questioning the patients on the number of evenings in a week they felt extremely tired.

Results: The clinical data showed a wide heterogeneity in clinical manifestations between patients, with the majority of patients showing differing levels of endurance, short stature, bone and joint abnormalities, abnormal gait and eye problems. Mobility was considerably impaired: 44.4% of children and 85.2% of adult patients were using a wheelchair. High wheelchair reliance significantly reduced QoL. This was mainly driven by reduced scores in the Mobility, Self-care, and Usual Activity domains. The HRQoL utility values were 0.846, 0.582 and 0.057 respectively in adults not using a wheelchair, using a wheelchair only when needed and always using a wheelchair; values were 0.534, 0.664 and -0.180 respectively in children. Employed adult patients had a better HRQoL than unemployed patients (HRQoL utility value 0.640 vs. 0.275, respectively).64% of children and 74% of adult patients had joint pain; fatigue was reported by 69% of children and 63% of adults. Overall, increased mobility was associated with more severe and widespread pain and more fatigue.

Conclusions: The HRQoL of Morquio A patients is mainly driven by the ability to remain independently mobile without becoming wheelchair dependent. Their QoL reduces dramatically if they always have to use their wheelchair. Even a slightly better mobility (wheelchair use only when needed) greatly improves QoL. Maintenance of functional capacity and mobility paired with better pain management are likely to improve QoL.

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Related in: MedlinePlus

Health-related quality of life (HRQoL) measured using the EQ5D-5L questionnaire in adults (a) and children (b) with Morquio A according to wheelchair use/mobility level. A score of 1 indicates "perfect health", a score of 0 indicates "death". Negative values indicate "feeling worse than death". Presented as mean value and standard error of the mean.
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Figure 1: Health-related quality of life (HRQoL) measured using the EQ5D-5L questionnaire in adults (a) and children (b) with Morquio A according to wheelchair use/mobility level. A score of 1 indicates "perfect health", a score of 0 indicates "death". Negative values indicate "feeling worse than death". Presented as mean value and standard error of the mean.

Mentions: Analysis of the EQ-5D-5L questionnaire showed that in both adult patients and children the HRQoL was most negatively affected in the domains Mobility, Self-care and Usual activities (Additional file4). Adults who did not use a wheelchair had a statistically significantly better HRQoL than those who used a wheelchair only when needed, 0.846 vs. 0.582 (P = 0.0115; Figure 1a), respectively. This was not observed in children (Figure 1b). Patients who always used their wheelchair, both adults and children, reported statistically significantly lower HRQoL than those who use their wheelchair only when needed (0.057 vs. 0.582 for adults and-0.180 vs. 0.664 for children, both P = 0.0007; Figure 1), respectively. The finding that Self-care is heavily affected in adult patients using a wheelchair always was also confirmed by caregivers, showing that average caregiving time for these patients is much higher (13.8 hours during weekdays) than for those not using a wheelchair (1.3 hours) or using a wheelchair only when needed (3.9 hours; Additional file5).


Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey.

Hendriksz CJ, Lavery C, Coker M, Ucar SK, Jain M, Bell L, Lampe C - Orphanet J Rare Dis (2014)

Health-related quality of life (HRQoL) measured using the EQ5D-5L questionnaire in adults (a) and children (b) with Morquio A according to wheelchair use/mobility level. A score of 1 indicates "perfect health", a score of 0 indicates "death". Negative values indicate "feeling worse than death". Presented as mean value and standard error of the mean.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4016149&req=5

Figure 1: Health-related quality of life (HRQoL) measured using the EQ5D-5L questionnaire in adults (a) and children (b) with Morquio A according to wheelchair use/mobility level. A score of 1 indicates "perfect health", a score of 0 indicates "death". Negative values indicate "feeling worse than death". Presented as mean value and standard error of the mean.
Mentions: Analysis of the EQ-5D-5L questionnaire showed that in both adult patients and children the HRQoL was most negatively affected in the domains Mobility, Self-care and Usual activities (Additional file4). Adults who did not use a wheelchair had a statistically significantly better HRQoL than those who used a wheelchair only when needed, 0.846 vs. 0.582 (P = 0.0115; Figure 1a), respectively. This was not observed in children (Figure 1b). Patients who always used their wheelchair, both adults and children, reported statistically significantly lower HRQoL than those who use their wheelchair only when needed (0.057 vs. 0.582 for adults and-0.180 vs. 0.664 for children, both P = 0.0007; Figure 1), respectively. The finding that Self-care is heavily affected in adult patients using a wheelchair always was also confirmed by caregivers, showing that average caregiving time for these patients is much higher (13.8 hours during weekdays) than for those not using a wheelchair (1.3 hours) or using a wheelchair only when needed (3.9 hours; Additional file5).

Bottom Line: High wheelchair reliance significantly reduced QoL.Their QoL reduces dramatically if they always have to use their wheelchair.Maintenance of functional capacity and mobility paired with better pain management are likely to improve QoL.

View Article: PubMed Central - HTML - PubMed

Affiliation: Manchester Academic Health Science Centre, The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Salford, UK. chris.hendriksz@srft.nhs.uk.

ABSTRACT

Background: Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL).

Methods: This patient-reported outcomes survey evaluated the global burden of Morquio A among adults (≥18 years, N = 27) and children (7-17 years, N = 36), including the impact on mobility, QoL, pain and fatigue. QoL was assessed using the general Health-Related Quality of Life (HRQoL) questionnaire (the EuroQol [EQ]-5D-5L). Pain and pain interference with daily activities were assessed using the Brief Pain Inventory Short Form (BPI-SF) in adults and the Adolescent Pediatric Pain Tool (APPT) in children. Fatigue was assessed by questioning the patients on the number of evenings in a week they felt extremely tired.

Results: The clinical data showed a wide heterogeneity in clinical manifestations between patients, with the majority of patients showing differing levels of endurance, short stature, bone and joint abnormalities, abnormal gait and eye problems. Mobility was considerably impaired: 44.4% of children and 85.2% of adult patients were using a wheelchair. High wheelchair reliance significantly reduced QoL. This was mainly driven by reduced scores in the Mobility, Self-care, and Usual Activity domains. The HRQoL utility values were 0.846, 0.582 and 0.057 respectively in adults not using a wheelchair, using a wheelchair only when needed and always using a wheelchair; values were 0.534, 0.664 and -0.180 respectively in children. Employed adult patients had a better HRQoL than unemployed patients (HRQoL utility value 0.640 vs. 0.275, respectively).64% of children and 74% of adult patients had joint pain; fatigue was reported by 69% of children and 63% of adults. Overall, increased mobility was associated with more severe and widespread pain and more fatigue.

Conclusions: The HRQoL of Morquio A patients is mainly driven by the ability to remain independently mobile without becoming wheelchair dependent. Their QoL reduces dramatically if they always have to use their wheelchair. Even a slightly better mobility (wheelchair use only when needed) greatly improves QoL. Maintenance of functional capacity and mobility paired with better pain management are likely to improve QoL.

Show MeSH
Related in: MedlinePlus