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Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders
J. Park, T. Bremova-Ertl, M. Brands, T. Foltan, M. Gautschi, P. Gissen, A. Hahn, S. Jones, L. Arash-Kaps, M. Kolnikova, M. Patterson, S. Perlman, U. Ramaswami, S. Reichmannová, M. Rohrbach, SA. Schneider, A. Shaikh, S. Sivananthan, M. Synofzik,...
Jazyk angličtina Země Německo
Typ dokumentu časopisecké články
NLK
ProQuest Central
od 1997-04-01 do Před 1 rokem
Medline Complete (EBSCOhost)
od 2000-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 1997-04-01 do Před 1 rokem
- MeSH
- ataxie * diagnóza patofyziologie etiologie MeSH
- dítě MeSH
- dospělí MeSH
- hodnocení výsledků zdravotní péče normy MeSH
- kohortové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- lyzozomální nemoci z ukládání diagnóza MeSH
- mladiství MeSH
- mladý dospělý MeSH
- předškolní dítě MeSH
- reprodukovatelnost výsledků MeSH
- stupeň závažnosti nemoci MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
OBJECTIVE: To evaluate the reliability, responsiveness, and validity of the Scale for the Assessment and Rating of Ataxia (SARA) in patients with lysosomal storage disorders (LSDs) who present with neurological symptoms, and quantify the threshold for a clinically meaningful change. METHODS: We analyzed data from three clinical trial cohorts (IB1001-201, IB1001-202, and IB1001-301) of patients with Niemann-Pick disease type C (NPC) and GM2 Gangliosidoses (Tay-Sachs and Sandhoff disease) comprising 122 patients and 703 visits. Reproducibility was described as re-test reliability between repeat baseline visits or baseline and post-treatment washout visits. Responsiveness was determined in relation to the Investigator's, Caregiver's, and Patient's Clinical Global Impression of Improvement (CGI-I). The CGI-I data was also used to quantify a threshold for a clinically meaningful improvement on the SARA scale. Using a qualitative methods approach, patient/caregiver interviews from the IB1001-301 trial were further used to assess a threshold of meaningful change as well as the breadth of neurological signs and symptoms captured and evaluated by the SARA scale. RESULTS: The Inter-Class Correlation (ICC) was 0.95 or greater for all three trials, indicating a high internal consistency/reliability. The mean change in SARA between repeat baseline and post-treatment washout visit assessments in all trials was -0.05, SD 1.98, i.e., minimal, indicating no significant differences, learning effects or other systematic biases. For the CGI-I responses and change in SARA scores, Area Under the Curve (AUC) values were 0.82, 0.71, and 0.77 for the Investigator's, Caregiver's, and Patient's CGI-I respectively, indicating strong agreement. Further qualitative analyses of the patient/caregiver interviews demonstrated a 1-point or greater change on SARA to be a clinically meaningful improvement which is directly relevant to the patient's everyday functioning and quality of life. Changes captured by the SARA were also paralleled by improvement in a broad range of neurological signs and symptoms and beyond cerebellar ataxia. CONCLUSION: Qualitative and quantitative data demonstrate the reliability and responsiveness of the SARA score as a valid measure of neurological signs and symptoms in LSDs with CNS involvement, such as NPC and GM2 Gangliosidoses. A 1-point change represents a clinically meaningful transition reflecting the gain or loss of complex function.
Department of Child Neurology Justus Liebig University Giessen Germany
Department of General Paediatrics University of Münster 48149 Münster Germany
Department of Neurology Case Western Reserve University School of Medicine Cleveland OH USA
Department of Neurology Ludwig Maximilians University Munich Germany
Department of Neurology University Hospital Bern Bern Switzerland
Department of Neurology University of California Los Angeles CA USA
Department of Neuropsychiatry The Royal Melbourne Hospital Melbourne VIC Australia
Department of Paediatric Metabolic Disease Amsterdam University Medical Center Amsterdam Netherlands
Lysosomal Storage Disorder Unit Royal Free London NHS Foundation Trust London UK
NIHR Great Ormond Street Hospital Biomedical Research Centre University College London London UK
SphinCS Institute of Clinical Science in Lysosomal Storage Disorders Hochheim Germany
Citace poskytuje Crossref.org
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- $a Park, Julien $u Department of General Paediatrics, University of Münster, 48149, Münster, Germany. Julien.Park@ukmuenster.de $1 https://orcid.org/0000000323059948
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- $a Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders / $c J. Park, T. Bremova-Ertl, M. Brands, T. Foltan, M. Gautschi, P. Gissen, A. Hahn, S. Jones, L. Arash-Kaps, M. Kolnikova, M. Patterson, S. Perlman, U. Ramaswami, S. Reichmannová, M. Rohrbach, SA. Schneider, A. Shaikh, S. Sivananthan, M. Synofzik, M. Walterfarng, P. Wibawa, K. Martakis, M. Manto
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