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

Oliveira, Michele Rosana; Schwartz, Ida Vanessa Döederlein; Costa, Luciana Muratori; Maia, Helena; Ribeiro, Márcia Gonçalves; Guerreiro, L. B.; Acosta, Angelina Xavier; Rocha, Neusa Sica da

doi:10.1186/s13104-018-3157-4

Cited by 7 publications

(5 citation statements)

References 42 publications

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“…While studies have shown that the quality of life of patients with MPS diseases and their caregivers is negatively impacted, there is a lack of specific measures for this patient population [32, 33]. The impact of MPS diseases on the family has been shown to be similar to that for other paediatric outpatients with chronic illnesses and caregiver burden increases with disease progression and loss of mobility [32].…”

Section: Discussionmentioning

confidence: 99%

Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII – a European caregiver survey

Morrison

Oussoren

Friedel³

et al. 2019

Orphanet J Rare Dis

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BackgroundMucopolysaccharidosis type VII (Sly disease, MPS VII), is an ultra-rare, multi-symptom disease with variable clinical presentations which can present challenges with diagnosis, management and care. We believe this survey is the first to explore the patient experience through direct questioning of the caregivers of 13 individuals with MPS VII.MethodsThis European survey, using a specifically designed questionnaire, was conducted in order to describe the pathway to diagnosis and the burden of illness of MPS VII. Information on early symptoms, clinicians seen, and current symptoms was collected. Questions on the caregivers’ ability to work and the use and availability of health, social and educational support were included.ResultsCaregivers of 13 patients from Germany, Spain, The Netherlands and Turkey responded to the survey. Five patients with non-immune hydrops fetalis (NIHF) were diagnosed with MPS VII at a mean age of 1.9 years (median 0.3 years, range 0.2 to 6 years). Those without NIHF (n = 7) were diagnosed at a mean age of 6.1 years (median 6.0 years, range 1.9 to 14 years). The symptoms most likely to raise a suspicion of MPS VII, excluding NIHF, did not appear until a median age of at least three years.Over one half of patients required assistance with daily living and mobility. Reduction of the working hours of caregivers was often necessary (46.2% reduced hours, 30.8% stopped working).Patients attended frequent medical appointments (12.7/year), over 80% had surgery and 30% had been hospitalised for respiratory issues.While support for learning and behavioural needs was generally available, support for mobility was not available to 50% of patients. Half of the respondents (6/12) said they were not offered genetic counselling.ConclusionsFor children that do not present with NIHF, diagnosis can take several years as early symptoms can be non-specific and mistaken for other conditions. Increased awareness of the early signs of disease and more information for parents/caregivers at diagnosis are needed. MPS VII poses significant burden to patients, caregivers, healthcare, social and educational services. Access to information and support varies across Europe and the availability of genetic counselling is limited in some countries.

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Section: Discussionmentioning

confidence: 99%

Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII – a European caregiver survey

Morrison

Oussoren

Friedel³

et al. 2019

Orphanet J Rare Dis

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“…Data were obtained via caregiver focus groups, video recordings of affected boys in an unstructured play setting, individual caregiver interviews either in person or by phone, medical record review, a meeting of representatives from patient advocacy groups and international experts, individual expert consultation, and literature review [28]. The focus group approach was selected for obtaining caregiver data because it has been used to understand the subjective experience of individuals and families in the MPS community, most recently for understanding quality of life, caregiver burden, and patient-reported outcomes [[29], [30], [31]]. Literature review of PubMed and Google Scholar involved the search terms mucopolysaccharidosis, “Hunter syndrome,” behavior, and “cognitive decline.” Experts were selected for consultation based on publications and/or international presentations on Hunter syndrome, or a history of advisory board work on Hunter syndrome.…”

Section: Methodsmentioning

confidence: 99%

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome

Eisengart

King

Shapiro

et al. 2020

Molecular Genetics and Metabolism Reports

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In neuronopathic Hunter syndrome, neurobehavioral symptoms are known to be serious but have been incompletely described. While families face significant stress stemming from this complex and far-reaching array of symptoms, neither caregiver burden nor the neurobehavioral symptoms have been measured comprehensively. We delineated these neurobehavioral characteristics and their impact on the caregiver using multiple approaches. Methods: As part of the initial phase of developing a Hunter-specific behavioral assessment tool, we used multiple methods to obtain data on patient behaviors and caregiver burden, with the intention of drafting item sets for the tool. We utilized 1) caregiver descriptions from focus groups and individual interviews, 2) observations from video-recorded play of affected children, 3) descriptions from historic chart review, 4) consultation with patient advocacy groups and international experts, 5) reports from a caregiver advisory board, and 6) literature review. Results: Neurobehavioral symptoms were diverse and categorized as focus/attention, impulsivity/heightened activity, sensation seeking, emotional/behavioral function, social interaction, and sleep. A significant reported challenge was susceptibility to misinterpretation of some behaviors as defiant or aggressive, particularly if physical. Caregiver burden involved social isolation, exhaustion, stress, and financial and vocational strain. These new descriptions will aid in developing quantitative measures of change in neurobehavioral symptoms and family burden. These descriptions will be the foundation of a neurobehavioral rating scale, which is very much needed to aid in patient management and assess interventions for individuals with neuronopathic Hunter syndrome.

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“…Recently, stakeholders such as industry, regulators, and payers have become increasingly interested in obtaining insight from patient/caregiver throughout the drug development lifecycle [ 37 ]. Moreover, there is a scarcity of studies and appropriate instruments for determining the QoL in patients with MPS [ 38 ]. Apart from this, several national strategies across Europe encourage involving patients and their families in research and incorporating their voices into the policy-making for rare diseases [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study

Guffon

Genevaz

Lacombe

et al. 2022

Orphanet J Rare Dis

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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, np = 11; MPS II, np = 9; MPS VI, np = 5) were included and about 36 in-depth interviews (caregivers alone, nc = 8; patients-caregiver pair, nc+p = 22; patients alone, np = 6) were conducted. Except one (aged 17 years), all patients were adults (median age: 29 years [17–50]) and diagnosed at median age of 4 years [0.4–30], with mainly mothers as caregivers (nc = 16/19). Patients were classified into three groups: Group A, Patients not able to answer the survey question because of a severe cognitive impairment (np = 8); Group B, Patients able to answer the survey question with low or no cognitive impairment and high motor disability (np = 10); and Group C, Patients able to answer the survey question with low or no cognitive impairment and low motor disability (np = 7). All groups were assessed for impact of disease on their daily lives based on a scale of 0–10. Caregivers in Group A were found to be most negatively affected by the disease, except for professional activity, which was most significantly impacted in Group B (4.7 vs. 5.4). The use of orthopaedic/medical equipments, was more prevalent in Groups A and B, versus Group C. Pain management was one of the global unmet need expressed by all groups. Group A caregivers expected better support from childcare facilities, disability clinics, and smooth transition from paediatric care to adult medicine. Similarly, Group B caregivers expected better specialised schools, whereas Group C caregivers expected better psychological support and greater flexibility in weekly infusion schedules for their patients. 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.

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

Cited by 7 publications

References 42 publications

Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII – a European caregiver survey

Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII – a European caregiver survey

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome

Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study

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