Heike Jacobi1,2, Sophie Tezenas du Montcel3,4, Peter Bauer5,6, Paola Giunti7, Arron Cook7, Robyn Labrum8, Michael H Parkinson7, Alexandra Durr9,10,11,12,13, Alexis Brice9,10,11,12,13, Perrine Charles13, Cecilia Marelli14, Caterina Mariotti15, Lorenzo Nanetti15, Lidia Sarro15, Maria Rakowicz16, Anna Sulek17, Anna Sobanska16, Tanja Schmitz-Hübsch18, Ludger Schöls19, Holger Hengel19, Laszlo Baliko20, Bela Melegh21, Alessandro Filla22, Antonella Antenora22, Jon Infante23, José Berciano24, Bart P van de Warrenburg25, Dagmar Timmann26, Sandra Szymanski27, Sylvia Boesch28, Wolfgang Nachbauer28, Jun-Suk Kang29, Massimo Pandolfo30, Jörg B Schulz31,32, Audrey Tanguy Melac4, Alhassane Diallo3, Thomas Klockgether33,34. 1. German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany. heike.jacobi@med.uni-heidelberg.de. 2. Department of Neurology, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120, Heidelberg, Germany. heike.jacobi@med.uni-heidelberg.de. 3. Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06, UMRS 1136, INSERM U 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, 75013, Paris, France. 4. AP-HP, Biostatistics Unit, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France. 5. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. 6. CENTOGENE AG, Rostock, Germany. 7. Department of Molecular Neuroscience, UCL, Institute of Neurology, London, UK. 8. Neurogenetic Laboratory, National Hospital of Neurology and Neurosurgery, UCL, London, UK. 9. INSERM, U 1127, 75013, Paris, France. 10. CNRS, UMR 7225, 75013, Paris, France. 11. Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, 75013, Paris, France. 12. Institut du Cerveau et de la Moelle épinière, ICM, 75013, Paris, France. 13. Département de Génétique, APHP, Hôpital de la Pitié-Salpêtrière, 75013, Paris, France. 14. Service de Neurologie-CMRR, CHRU Gui de Chauliac, 80, av. A. Fliche, 34295, Montpellier Cedex 05, France. 15. SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione-IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 16. Department of Clinical Neurophysiology, Institute of Psychiatry and Neurology, Warsaw, Poland. 17. Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. 18. Charité Universitätsmedizin Berlin, NeuroCure Clinical Research Center, Berlin, Germany. 19. Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tübingen and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), 72076, Tübingen, Germany. 20. Department of Neurology, Zala County Hospital, Zrinyi M. Str. 1, Zalaegerszeg, 8900, Hungary. 21. Department of Medical Genetics, Medical School, and Szentagothai Research Center, University of Pécs, Pécs, Hungary. 22. Department of Neuroscience, and Reproductive and Odontostomatological Sciences, Federico II University Naples, Naples, Italy. 23. Service of Neurology, University Hospital Marqués de Valdecilla (IDIVAL), University of Cantabria (UC) and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain. 24. Service of Neurology, University Hospital "Marqués de Valdecilla (IDIVAL)", "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)", University of Cantabria (UC), Santander, Spain. 25. Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. 26. Department of Neurology, University Clinic Essen, University of Duisburg-Essen, Essen, Germany. 27. Department of Neurology, St. Josef Hospital, University Hospital of Bochum, Bochum, Germany. 28. Department of Neurology, Medical University, Innsbruck, Innsbruck, Austria. 29. Department of Neurology, University of Frankfurt, Frankfurt am Main, Germany. 30. Université Libre de Bruxelles (ULB), Neurology Service-ULB Hôpital Erasme, ULB Laboratory of Experimental Neurology, Brussels, Belgium. 31. Department of Neurology, RWTH Aachen University, Pauwelsstraβe 30, 52074, Aachen, Germany. 32. JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH and RWTH Aachen University, 52074, Aachen, Germany. 33. German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany. 34. Department of Neurology, University Hospital of Bonn, Bonn, Germany.
Abstract
INTRODUCTION: To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohort study of 526 patients with SCA1, SCA2, SCA3 and SCA6. METHODS: To assess the functional capacity in daily living, we used the functional assessment (part IV) of the Unified Huntington's Disease Rating Scale (UHDRS-IV), for health-related quality of life the visual analogue scale of the EuroQol Five Dimensions Questionnaire (EQ-5D VAS), and for depressive symptoms the Patient Health Questionnaire (PHQ-9). Severity of ataxia was assessed using the Scale for the Assessment and Rating of Ataxia (SARA) and neurological symptoms other than ataxia with the Inventory of Non-Ataxia Signs (INAS). RESULTS: UHDRS-IV [SCA1: - 1.35 (0.12); SCA2: - 1.15 (0.11); SCA3: - 1.16 (0.11); SCA6: - 0.99 (0.12)] and EQ-5D [SCA1: - 2.88 (0.72); SCA2: - 1.97 (0.49); SCA3: - 2.06 (0.55); SCA6: - 1.03 (0.57)] decreased linearly, whereas PHQ-9 increased [SCA1: 0.15 (0.04); SCA2: 0.09 (0.03); SCA3: 0.06 (0.04); SCA6: 0.07 (0.04)] during the observational period. Standard response means (SRMs) of UHDRS-IV (0.473-0.707) and EQ-5D VAS (0.053-0.184) were lower than that of SARA (0.404-0.979). In SCA1, higher SARA scores [- 0.0288 (0.01), p = 0.0251], longer repeat expansions [- 0.0622 (0.02), p = 0.0002] and the presence of cognitive impairment at baseline [- 0.5381 (0.25), p = 0.0365] were associated with faster UHDRS-IV decline. In SCA3, higher INAS counts were associated with a faster UHDRS-IV decline [- 0.05 (0.02), p = 0.0212]. In SCA1, PHQ-9 progression was faster in patients with cognitive impairment [0.14 (0.07); p = 0.0396]. CONCLUSIONS: In the common SCAs, PROMs give complementary information to the information provided by neurological scales. This underlines the importance of PROMs as additional outcome measures in future interventional trials.
INTRODUCTION: To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohort study of 526 patients with SCA1, SCA2, SCA3 and SCA6. METHODS: To assess the functional capacity in daily living, we used the functional assessment (part IV) of the Unified Huntington's Disease Rating Scale (UHDRS-IV), for health-related quality of life the visual analogue scale of the EuroQol Five Dimensions Questionnaire (EQ-5D VAS), and for depressive symptoms the Patient Health Questionnaire (PHQ-9). Severity of ataxia was assessed using the Scale for the Assessment and Rating of Ataxia (SARA) and neurological symptoms other than ataxia with the Inventory of Non-Ataxia Signs (INAS). RESULTS: UHDRS-IV [SCA1: - 1.35 (0.12); SCA2: - 1.15 (0.11); SCA3: - 1.16 (0.11); SCA6: - 0.99 (0.12)] and EQ-5D [SCA1: - 2.88 (0.72); SCA2: - 1.97 (0.49); SCA3: - 2.06 (0.55); SCA6: - 1.03 (0.57)] decreased linearly, whereas PHQ-9 increased [SCA1: 0.15 (0.04); SCA2: 0.09 (0.03); SCA3: 0.06 (0.04); SCA6: 0.07 (0.04)] during the observational period. Standard response means (SRMs) of UHDRS-IV (0.473-0.707) and EQ-5D VAS (0.053-0.184) were lower than that of SARA (0.404-0.979). In SCA1, higher SARA scores [- 0.0288 (0.01), p = 0.0251], longer repeat expansions [- 0.0622 (0.02), p = 0.0002] and the presence of cognitive impairment at baseline [- 0.5381 (0.25), p = 0.0365] were associated with faster UHDRS-IV decline. In SCA3, higher INAS counts were associated with a faster UHDRS-IV decline [- 0.05 (0.02), p = 0.0212]. In SCA1, PHQ-9 progression was faster in patients with cognitive impairment [0.14 (0.07); p = 0.0396]. CONCLUSIONS: In the common SCAs, PROMs give complementary information to the information provided by neurological scales. This underlines the importance of PROMs as additional outcome measures in future interventional trials.
Entities:
Keywords:
ADL; Depression; Natural history studies; Quality of life; Spinocerebellar ataxia; Trinucleotide repeat diseases
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