The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validation

Raluy-Callado, Mireia; Chen, Wen Hung; Muenzer, Joseph; Fang, Juanzhi; Whiteman, David A.H.

doi:10.1007/s11136-014-0703-y

Cited by 16 publications

(27 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…From a statistical viewpoint, Ye et al utilized latent class analysis (LCA) without prior application of dimension reduction techniques. As several of these variables were questionnaire items (Ye et al, 2014), scaling via dimension reduction could provide a shorter list of items with better performance according to the population from which they were derived (Wiklund et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

“…In this sense, optimal scaling allows for a shorter list of items with better performance (consistency-wise), according to the population they were derived from (Fowlkes et al, 1998). Furthermore, dimension reduction in categorical variables may help to eliminate redundant variables that could possibly hinder the clustering process (Wiklund et al, 2014).…”

Section: Categorical Principal Component Analysismentioning

confidence: 99%

See 1 more Smart Citation

Phenotypes of comorbidity in OSAS patients: combining categorical principal component analysis with cluster analysis

Vavougios

Natsios

Pastaka

et al. 2015

Journal of Sleep Research

View full text Add to dashboard Cite

Summary Phenotyping obstructive sleep apnea syndrome's comorbidity has been attempted for the first time only recently. The aim of our study was to determine phenotypes of comorbidity in obstructive sleep apnea syndrome patients employing a data‐driven approach. Data from 1472 consecutive patient records were recovered from our hospital's database. Categorical principal component analysis and two‐step clustering were employed to detect distinct clusters in the data. Univariate comparisons between clusters included one‐way analysis of variance with Bonferroni correction and chi‐square tests. Predictors of pairwise cluster membership were determined via a binary logistic regression model. The analyses revealed six distinct clusters: A, ‘healthy, reporting sleeping related symptoms’; B, ‘mild obstructive sleep apnea syndrome without significant comorbidities’; C1: ‘moderate obstructive sleep apnea syndrome, obesity, without significant comorbidities’; C2: ‘moderate obstructive sleep apnea syndrome with severe comorbidity, obesity and the exclusive inclusion of stroke’; D1: ‘severe obstructive sleep apnea syndrome and obesity without comorbidity and a 33.8% prevalence of hypertension’; and D2: ‘severe obstructive sleep apnea syndrome with severe comorbidities, along with the highest Epworth Sleepiness Scale score and highest body mass index’. Clusters differed significantly in apnea–hypopnea index, oxygen desaturation index; arousal index; age, body mass index, minimum oxygen saturation and daytime oxygen saturation (one‐way analysis of variance P < 0.0001). Binary logistic regression indicated that older age, greater body mass index, lower daytime oxygen saturation and hypertension were associated independently with an increased risk of belonging in a comorbid cluster. Six distinct phenotypes of obstructive sleep apnea syndrome and its comorbidities were identified. Mapping the heterogeneity of the obstructive sleep apnea syndrome may help the early identification of at‐risk groups. Finally, determining predictors of comorbidity for the moderate and severe strata of these phenotypes implies a need to take these factors into account when considering obstructive sleep apnea syndrome treatment options.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Categorical Principal Component Analysismentioning

confidence: 99%

Phenotypes of comorbidity in OSAS patients: combining categorical principal component analysis with cluster analysis

Vavougios

Natsios

Pastaka

et al. 2015

Journal of Sleep Research

View full text Add to dashboard Cite

show abstract

“…Traditional questionnaires such as the FIM, HS-FOCUS, and PEDI have been used to evaluate ADL for patients with Hunter syndrome [16 – 18]. These questionnaires are limited by their age requirements, time consumption, complexity, and the requirement for professional examiners.…”

Section: Discussionmentioning

confidence: 99%

“…Other types of questionnaires used to evaluate ADL in Hunter syndrome patients include The Hunter syndrome-functional outcomes for clinical understanding scale (HS-FOCUS) [17,19], and Pediatric evaluation of Disability inventory (PEDI) for general child health [16]. To date, only a few studies have evaluated the clinical status of Hunter syndrome [9, 14–18], and the effect of ERT and HSCT on ADL in patients with Hunter syndrome has not been reported yet.…”

Section: Introductionmentioning

confidence: 99%

Activities of daily living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation

Tanjuakio

Suzuki

Patel

et al. 2015

Molecular Genetics and Metabolism

View full text Add to dashboard Cite

The aim of this study was to assess the Activities of Daily Living (ADL) in patients with Hunter syndrome (mucopolysaccharidosis II; MPS II) using a newly designed ADL questionnaire. We applied the questionnaire to evaluate clinical phenotypes and therapeutic efficacies of enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). We also explored early signs and symptoms to make early diagnosis feasible. We devised a new ADL questionnaire with three domains: “Movement,” “Movement with Cognition,” and “Cognition.” Each domain has four subcategories rated on a 5-point scale based on level of assistance. We also scored signs and symptoms unique to MPS by 12 subcategories (five points per category), providing 60 points in total. The questionnaire was first administered to 138 healthy Japanese controls (0.33 – 50 years), and successively, to 74 Japanese patients with Hunter syndrome (4 – 49 years). The patient cohort consisted of 51 severe and 23 attenuated phenotypes; 20 patients treated with HSCT, 23 patients treated early with ERT (≤ 8 years), and 25 patients treated late with ERT (> 8 years), and 4 untreated patients. Among 18 severe phenotypic patients treated by HSCT, 10 were designated as early HSCT (≤ 5 years), while 8 were designated as late HSCT (> 5 years). Scores from patients with severe phenotypes were lower than controls and attenuated phenotypes in all categories. Among patients with severe phenotypes, there was a trend that HSCT provides a higher ADL score than early ERT, and there was a significant difference in ADL scores between late ERT and HSCT groups. Early ERT and early HSCT provided a higher score than late ERT and late HSCT, respectively. In conclusion, we have evaluated the feasibility of a new questionnaire in control population and patients with Hunter syndrome, leading to a novel evaluation method for clinical phenotypes and therapeutic efficacy. Early treatment with HSCT provides a better consequence in ADL of patients.

show abstract

“…The HS-FOCUS questionnaire was developed to obtain insight into the effects of MPS II on the daily lives of patients and their parents and/or caregivers [40, 41]. HS-FOCUS data have been collected in HOS since 2006, and it is hoped that this information will enhance our understanding of the impact of MPS II on the daily lives of patients and their families and potentially lead to improvements in patient care.…”

Section: Achievements Of Hos Over the Past Decadementioning

confidence: 99%

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

Muenzer

Jones

Tylki‐Szymańska

et al. 2017

Orphanet J Rare Dis

Self Cite

View full text Add to dashboard Cite

Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. Disease-specific treatment is available in the form of enzyme replacement therapy with intravenous idursulfase (Elaprase®, Shire). Since 2005, the Hunter Outcome Survey (HOS) has collected real-world, long-term data on the safety and effectiveness of this therapy, as well as the natural history of MPS II. Individuals with a confirmed diagnosis of MPS II who are untreated or who are receiving/have received treatment with idursulfase or bone marrow transplant can be enrolled in HOS. A broad range of disease- and treatment-related information is captured in the registry and, over the past decade, data from more than 1000 patients from 124 clinics in 29 countries have been collected. Evidence generated from HOS has helped to improve our understanding of disease progression in both treated and untreated patients and has extended findings from the formal clinical trials of idursulfase. As a long-term, global, observational registry, various challenges relating to data collection, entry, and analysis have been encountered. These have resulted in changes to the HOS database platform, and novel approaches to maximize the value of the information collected will also be needed in the future. The continued evolution of the registry should help to ensure that HOS provides further insights into the burden of the disease and patient care and management in the coming years.

show abstract

The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validation

Cited by 16 publications

References 13 publications

Phenotypes of comorbidity in OSAS patients: combining categorical principal component analysis with cluster analysis

Phenotypes of comorbidity in OSAS patients: combining categorical principal component analysis with cluster analysis

Activities of daily living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

Contact Info

Product

Resources

About