Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases

Johnston, Bradley C.; Miller, Patricia A.; Agarwal, Arnav; Mulla, Sohail; Khokhar, Rabia; Oliveira, Kyle De; Hitchcock, Caitlin; Sadeghirad, Behnam; Mohiuddin, Mukarram; Sekercioğlu, Nigar; Seweryn, Michał; Koperny, Magdalena; Bała, Małgorzata M; Adams‐Webber, Thomasin; Granados, Alı́cia; Hamed, Alaa; Crawford, Mark W.; Ploeg, Ans T. van der; Guyatt, Gordon

doi:10.1016/j.jclinepi.2016.06.010

Cited by 16 publications

(16 citation statements)

References 75 publications

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“…Outside of dietary assessment and drawing from psychosocial constructs, some measures have been shown to be responsive to change, [99][100][101] whereas others have not. 102 When true change is not known, one method of assessing responsiveness to change is to estimate the smallest detectable difference, 97,103 which is the average change in a measure over a specific time divided by the standard error of the measurement error times the square root of 2. This provides the smallest difference that the measure can detect.…”

Section: Ethicsmentioning

confidence: 99%

“…105 Some scales have been shown to be responsive to change in longitudinal studies, but not in randomized clinical trials. 102 Responsiveness also appears to relate to the number of items included in a measure; in one study, responsiveness was acceptable when the number of items in a quality of life scale was reduced from five to two, but dropped precipitously when reduced to one item, 106 with potential implications for brief measures intended to capture dietary constructs such as fruit and vegetable intake. For measures of physical activity, objective measures appear to be more responsive than selfreport methods, but only slightly so.…”

Section: Ethicsmentioning

confidence: 99%

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Best Practices for Conducting and Interpreting Studies to Validate Self-Report Dietary Assessment Methods

Kirkpatrick¹,

Baranowski²,

Subar³

et al. 2019

Journal of the Academy of Nutrition and Dietetics

106

122

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Careful consideration of the validity and reliability of methods intended to assess dietary intake is central to the robustness of nutrition research. A dietary assessment method with high validity is capable of providing useful measurement for a given purpose and context. More specifically, a method with high validity is well grounded in theory; its performance is consistent with that theory; and it is precise, dependable, and accurate within specified performance standards. Assessing the extent to which dietary assessment methods possess these characteristics can be difficult due to the complexity of dietary intake, as well as difficulties capturing true intake. We identified challenges and best practices related to the validation of self-report dietary assessment methods. The term validation is used to encompass various dimensions that must be assessed and considered to determine whether a given method is suitable for a specific purpose. Evidence on the varied concepts of validity and reliability should be interpreted in combination to inform judgments about the suitability of a method for a specified purpose. Self-report methods are the focus because they are used in most studies seeking to measure dietary intake. Biomarkers are important reference measures to validate self-report methods and are also discussed. A checklist is proposed to contribute to strengthening the literature on the validation of dietary assessment methods and ultimately, the nutrition literature more broadly.

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Section: Ethicsmentioning

confidence: 99%

Section: Ethicsmentioning

confidence: 99%

Best Practices for Conducting and Interpreting Studies to Validate Self-Report Dietary Assessment Methods

Kirkpatrick¹,

Baranowski²,

Subar³

et al. 2019

Journal of the Academy of Nutrition and Dietetics

106

122

View full text Add to dashboard Cite

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“…PROs enable patients to provide information regarding the consequences of their disease and its treatment and are often recognized as the most important outcomes for them. In FD studies, Short-Form Health Survey 36 (SF-36) is the most applied questionnaire and pain is the symptom most commonly assessed [9].…”

Section: Introductionmentioning

confidence: 99%

Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients

Neto

Bento

Pereira

2020

Molecular Genetics and Metabolism Reports

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Background: Fabry disease (FD) is a lysosomal disease in which mutations affect the GLA gene located on the X chromosome. The defective product, the enzyme alpha-galactosidase A, causes accumulation of substrate and contributes to the disruption of cell function in several organs, with variable severity and consequent damage of tissue or organ function. Patient reported outcomes (PROs) enable patients to provide information regarding the consequences of their disease and its treatment and are often recognized as the most important outcomes for them.Objectives: To evaluate pain, depression, sleep disturbances, disability and disease impact on quality of life in a cohort of Brazilian FD patients and compare between groups stratified by the Mainz Symptom Severity Index (MSSI) Methods: Thirty-seven genotype confirmed classic FD patients – 16 male and 21 female – (mutations: C142R, A156D, L180F, R227X, W262X, G271A, P293S, Y264SX) were evaluated and answered the following questionnaires: Brief Pain Inventory (BPI), Hamilton Depression Rating Scale (HAM-D), Pittsburgh Sleep Quality Index (PSQI), Health Assessment Questionnaire Disability Index (HAQ-DI), Short-Form Health Survey 36 (SF-36).Results: In FD patients, mean ± SD BPI severity result was 2.78 ± 2.66 for severe; 2.80 ± 2.55 for moderate and 1.55 ± 2.38 for mild severity patients. Mean ± SD BPI interference result was 2.55 ± 2.44 for severe; 2.80 ± 3.18 for moderate and 1.36 ± 2.83 for mild patients. BPI severity and interference values correlated with MSSI scores (r = 0.24; p < .001 / r = 0.25; p < .001). Application of HAM-D indicated depression in 21 patients (56.8%). HAM-D results had positive correlation with MSSI values (r = 0.21; p < .001), with BPI severity (r = 0.54; p < .001) and interference (r = 0.65; p < .001). PSQI depicted sleep disturbances in 22 patients (59.5%). PSQI values correlated with MSSI values (r = 0.25; p < .001), with HAM-D results (r = 0.65; p < .001) and BPI severity (r = 0.47; p < .001) and interference (r = 0.66; p < .001). Mean HAQ-DI result was 0.490 for severe; 0.274 for moderate and 0.157 for mild severity patients. Conclusions: Depression, sleep disturbances and disability were under-recognized in FD patients. HAQ-DI revealed worse disability according to MSSI severity status. The lowest raw scores from the SF-36 questionnaire were for the domains general health perception and physical role functioning. Standardized assessments should be routine care and started as early as diagnosis of Fabry disease is made.

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“…In the past, PROM in patients with GD used non-disease specific tools, such as the Short-Form-36 and Brief Pain InventoryEuroQoL-5D, with limited responsiveness of PROM to small differences between groups of disease phenotype [10]. Recently, a GD1-specific PROM (GD1-PROM) was developed with input from patients, which included 15 questions; six Point Verbal Response Scale regarding the last month and nine Visual Analogue Scales (VAS) from 0 to 10 regarding the previous week.…”

Section: Introductionmentioning

confidence: 99%

Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease

Dinur

Istaiti

Frydman

et al. 2020

Orphanet J Rare Dis

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Background It is now acknowledged that the input of patients in health outcome assessment is vital to understanding the impact of diseases and interventions for those diseases. This study is the first report of patient-reported outcome measures (PROM) in a large cohort of patients with type 1 Gaucher disease (GD1) enabling us to study predictors of the reported outcomes. Method The PROM was sent via a mobile phone survey to 405 adult patients with GD1. Demographics, clinical data, and treatment status were extracted from clinic charts. Age, sex, severity score index (SSI) at presentation and treatment status were used as variables to assess outcomes. Results A total of 192 patients with GD1 (111 females) responded (47.4% response rate), of whom 124 (64.5%) had received GD1-specific therapy. Around 40% of patients reported that GD had restricted their education/job and fun activities and were concerned about being emotional and financial burdens on others. Concerns regarding the risk of bone disease and Parkinson disease were also high (60%). The severity of GD1 (reflected by the need for GD1-specific therapy and a high SSI) was associated with GD1-related restrictions and concerns, fatigue, physical weakness, bone pain, and worry regarding the future. Conclusions The use of GD1 specific PROM highlights personal problems that are not captured by traditional outcome parameters and that need to be addressed to improve health-related quality of life. Validated PROM should be included among the outcome measures in clinical practice and future prospective studies for patients with chronic and rare diseases.

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Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases

Cited by 16 publications

References 75 publications

Best Practices for Conducting and Interpreting Studies to Validate Self-Report Dietary Assessment Methods

Best Practices for Conducting and Interpreting Studies to Validate Self-Report Dietary Assessment Methods

Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients

Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease

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