Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross‐sectional national survey

Brands, Marion M. G.; Güngör, Deniz; Hout, J. M. P. van den; Karstens, Francois P. J.; Oussoren, Esmée; Plug, Iris; Boelens, Jaap Jan; Hasselt, Peter M. van; Hollak, Carla E. M.; Mulder, Margot F.; Gozalbo, Estela Rubio; Smeitink, Jan A.M.; Smit, Gerrit; Wijburg, Frits A.; Meutgeert, Hanka; Ploeg, Ans T. van der

doi:10.1007/s10545-014-9737-0

Cited by 35 publications

(46 citation statements)

References 40 publications

(50 reference statements)

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“…Impaired mobility is prevalent in MPS patients, with many individuals requiring walking aids or a wheelchair [11, 13–15] (Fig. 2).…”

Section: How Does Mps Affect Hrqol?mentioning

confidence: 99%

“…Joint abnormalities can result in poor shoulder ROM, wrist weakness, stiffness or changes in mobility which in turn affect simple ADL tasks such as dressing, washing and eating [16]. Pain may arise from joint defects, infections including otitis media, neurological involvement and neuropathic signals arising in the brain, increased intracranial pressure, spinal cord compression, or carpal tunnel syndrome [13, 15, 17]. Fatigue, the result of impaired cardiopulmonary function, can produce stress, anger, frustration, and potentially depression [18].…”

Section: How Does Mps Affect Hrqol?mentioning

confidence: 99%

“…

Fig. 2Mobility impairment in the International Morquio A registry (including 326 patients with MPS IVA) [14], the Morquio A Clinical Assessment Program (MorCAP) (including 325 patients with MPS IVA) [11], the MPS VI Survey (including 121 patients with MPS VI) [13] and the Dutch MPS Survey (including 55 patients with MPS I, II, III, IV, and VI) [15]…”

Section: How Does Mps Affect Hrqol?mentioning

confidence: 99%

“…Several studies have evaluated pain in MPS in more detail using other questionnaires [15, 28, 29]. In the Dutch National MPS Survey of 55 patients with different types of MPS, joint pain was evaluated with the Non-communicating Children’s Pain Checklist-Revised (NCCPC-R), the Six-face Faces Pain Scale-Revised (FPS-R) and an MPS-specific questionnaire.…”

Section: Disease Impact On Pros In Mpsmentioning

confidence: 99%

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Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Hendriksz

Berger

Lampe

et al. 2016

Orphanet J Rare Dis

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The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of these disorders have triggered the search for clinically relevant biomarkers and clinical markers associated with treatment efficacy in populations and individuals. However, biomedical measures do not tell the whole story when characterizing a complex chronic disorder such as MPS. Health-related quality of life (HRQoL) tools that utilize patient reported outcomes to address patient parameters such as symptoms (pain, fatigue, psychological health), functioning (activity and limitations), or quality of life, have been used to supplement traditional biomedical endpoints. Many of these HRQoL tools have demonstrated that quality of life is negatively impacted in patients with MPS. There is both the opportunity and need to formally standardize and validate HRQoL tools for the different MPS disorders.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-016-0503-2) contains supplementary material, which is available to authorized users.

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“…Impaired mobility is prevalent in MPS patients, with many individuals requiring walking aids or a wheelchair [11, 13–15] (Fig. 2).…”

Section: How Does Mps Affect Hrqol?mentioning

confidence: 99%

Section: How Does Mps Affect Hrqol?mentioning

confidence: 99%

“…

Section: How Does Mps Affect Hrqol?mentioning

confidence: 99%

Section: Disease Impact On Pros In Mpsmentioning

confidence: 99%

See 2 more Smart Citations

Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Hendriksz

Berger

Lampe

et al. 2016

Orphanet J Rare Dis

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“…They concluded that many of these instruments have demonstrated that QoL is negatively impacted in patients with MPS. Overall, the most affected QoL domains were pain/discomfort [23] and mobility; problems with self-care or activities of daily living were also critical factors. Also, wheelchair use, unemployment, poor endurance, and poor pulmonary function were also associated with worse QoL [24–35].…”

Section: Introductionmentioning

confidence: 99%

Quality of life in mucopolysaccharidoses: construction of a specific measure using the focus group technique

et al. 2018

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ObjectiveTo describe the perceptions of patients, their caregivers, and their healthcare providers to the development of a new specific instrument for assessment of the quality of life (QoL) in patients with mucopolysaccharidoses (MPS) using a qualitative focus group (FG) design. FGs were held in two Brazilian states (Rio Grande do Sul and Rio de Janeiro).ResultsThree versions of the new instrument were developed, each for a different age group: children (age 8–12 years), adolescents (age 13–17), and adults (age ≥ 18). The FGs mostly confirmed the relevance of items. All FGs unanimously agreed on the facets: School, Happiness, Life Prospects, Religiosity, Pain, Continuity of Treatment, Trust in Treatment, Relationship with Family, Relationship with Healthcare Providers, Acceptance, and Meaning of Life. The overall concept of QoL (as proposed by the WHO—World Health Organization) and its facets apply to this patient population. However, other specific facets—particularly concerning clinical manifestations and the reality of the disease—were suggested, confirming the need for the development of a specific QoL instrument for MPS.Electronic supplementary materialThe online version of this article (10.1186/s13104-018-3157-4) contains supplementary material, which is available to authorized users.

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Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders

Jones

Wijburg

2016

Inborn Metabolic Diseases

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Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross‐sectional national survey

Abstract: With or without intellectual disabilities, many MPS patients experience pain. We recommend that standardized pain assessments are included in the regular follow-up program of patients with MPS.

Cited by 35 publications

References 40 publications

Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Quality of life in mucopolysaccharidoses: construction of a specific measure using the focus group technique

Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders

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