Relationship Between Patient-Reported Outcomes and Clinical Outcomes in Patients With Morquio A Syndrome

Lampe, Christina; Jain, Mohit; Olaye, Andrew; Meesen, Bianca; Decker, Celeste; Mengel, Eugen

doi:10.1177/2326409815576188

Cited by 11 publications

(6 citation statements)

References 22 publications

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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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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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“…Problems with self-care or usual activities were also critical factors affecting HRQoL. In addition, wheelchair use, unemployment, poor endurance, and poor pulmonary function were also associated with worse HRQoL [ 28 , 41 ]. Despite the deviation in pain domains, no differences in HRQoL could be found between patients with or without pain [ 15 , 28 ].…”

Section: Disease Impact On Pros In Mpsmentioning

confidence: 99%

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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“…The biggest limitation is the small sample size [ 34 , 37 , 41 , 53 , 56 , 65 , 77 , 82 , 85 , 100 , 102 , 105 , 112 , 115 , 125 – 130 ]. This makes it difficult to reach statistically significant conclusions [ 35 , 39 , 43 , 44 , 46 , 75 , 79 , 83 , 86 , 90 , 93 , 99 , 131 – 133 ] and also precludes the use of adequate control samples as placebo-control groups [ 40 , 58 , 70 , 76 , 103 , 108 , 109 , 119 , 121 , 134 , 135 ]. To counteract the problem of small samples, multinational studies are being performed.…”

Section: Resultsmentioning

confidence: 99%

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Pascoal

Brasil

Francisco

et al. 2018

Orphanet J Rare Dis

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BackgroundHealth-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of patient and/or observer reported outcome measures (PROMs or ObsROMs) as informative and reliable tools for HrQoL assessment. Inherited Metabolic Diseases (IMDs) are a group of heterogeneous conditions with phenotypes ranging from mild to severe and mostly lacking effective therapies. Consequently, HrQoL evaluation is particularly relevant.ObjectivesWe aimed to: (1) identify patient and/or caregiver-reported HrQoL instruments used among IMDs; (2) identify the main results of the application of each HrQoL tool and (3) evaluate the main limitations of HrQoL instruments and study design/methodology in IMDs.MethodsA scoping review was conducted using methods outlined by Arksey and O’Malley. Additionally, we critically analysed each article to identify the HrQoL study drawbacks.ResultsOf the 1954 studies identified, 131 addressed HrQoL of IMDs patients using PROMs and/or ObsROMs, both in observational or interventional studies. In total, we identified 32 HrQoL instruments destined to self- or proxy-completion; only 2% were disease-specific. Multiple tools (both generic and disease-specific) proved to be responsive to changes in HrQoL; the SF-36 and PedsQL questionnaires were the most frequently used in the adult and pediatric populations, respectively. Furthermore, proxy data often demonstrated to be a reliable approach complementing self-reported HrQoL scores. Nevertheless, numerous limitations were identified especially due to the rarity of these conditions.ConclusionsHrQoL is still not frequently assessed in IMDs. However, our results show successful examples of the use of patient-reported HrQoL instruments in this field. The importance of HrQoL measurement for clinical research and therapy development, incites to further research in HrQoL PROMs’ and ObsROMs’ creation and validation in IMDs.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0953-9) contains supplementary material, which is available to authorized users.

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Relationship Between Patient-Reported Outcomes and Clinical Outcomes in Patients With Morquio A Syndrome

Cited by 11 publications

References 22 publications

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome

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

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

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