Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Heike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, Paola Giunti, Arron Cook, Robyn Labrum, Michael H. Parkinson, Alexandra Durr, Alexis Brice, Perrine Charles, Cecilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Lidia Sarro, Maria Rakowicz, Anna Sulek, Anna Sobanska, Tanja Schmitz-Hübsch, Ludger Schöls, Holger HengelLaszlo Baliko, Bela Melegh, Alessandro Filla, Antonella Antenora, Jon Infante, José Berciano, Bart P. van de Warrenburg, Dagmar Timmann, Sandra Szymanski, Sylvia Boesch, Wolfgang Nachbauer, Jun Suk Kang, Massimo Pandolfo, Jörg B. Schulz, Audrey Tanguy Melac, Alhassane Diallo, Thomas Klockgether

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)2040-2051
Number of pages12
JournalJournal of Neurology
Volume265
Issue number9
DOIs
Publication statusPublished - Sep 1 2018

Fingerprint

Spinocerebellar Ataxias
Ataxia
Equipment and Supplies
Patient Reported Outcome Measures
Huntington Disease
Natural History
Visual Analog Scale
Cohort Studies
Quality of Life
Outcome Assessment (Health Care)
Depression
Health

Keywords

  • ADL
  • Depression
  • Natural history studies
  • Quality of life
  • Spinocerebellar ataxia
  • Trinucleotide repeat diseases

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Jacobi, H., du Montcel, S. T., Bauer, P., Giunti, P., Cook, A., Labrum, R., ... Klockgether, T. (2018). Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias. Journal of Neurology, 265(9), 2040-2051. https://doi.org/10.1007/s00415-018-8954-0

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias. / Jacobi, Heike; du Montcel, Sophie Tezenas; Bauer, Peter; Giunti, Paola; Cook, Arron; Labrum, Robyn; Parkinson, Michael H.; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Sarro, Lidia; Rakowicz, Maria; Sulek, Anna; Sobanska, Anna; Schmitz-Hübsch, Tanja; Schöls, Ludger; Hengel, Holger; Baliko, Laszlo; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, José; van de Warrenburg, Bart P.; Timmann, Dagmar; Szymanski, Sandra; Boesch, Sylvia; Nachbauer, Wolfgang; Kang, Jun Suk; Pandolfo, Massimo; Schulz, Jörg B.; Melac, Audrey Tanguy; Diallo, Alhassane; Klockgether, Thomas.

In: Journal of Neurology, Vol. 265, No. 9, 01.09.2018, p. 2040-2051.

Research output: Contribution to journalArticle

Jacobi, H, du Montcel, ST, Bauer, P, Giunti, P, Cook, A, Labrum, R, Parkinson, MH, Durr, A, Brice, A, Charles, P, Marelli, C, Mariotti, C, Nanetti, L, Sarro, L, Rakowicz, M, Sulek, A, Sobanska, A, Schmitz-Hübsch, T, Schöls, L, Hengel, H, Baliko, L, Melegh, B, Filla, A, Antenora, A, Infante, J, Berciano, J, van de Warrenburg, BP, Timmann, D, Szymanski, S, Boesch, S, Nachbauer, W, Kang, JS, Pandolfo, M, Schulz, JB, Melac, AT, Diallo, A & Klockgether, T 2018, 'Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias', Journal of Neurology, vol. 265, no. 9, pp. 2040-2051. https://doi.org/10.1007/s00415-018-8954-0
Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R et al. Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias. Journal of Neurology. 2018 Sep 1;265(9):2040-2051. https://doi.org/10.1007/s00415-018-8954-0
Jacobi, Heike ; du Montcel, Sophie Tezenas ; Bauer, Peter ; Giunti, Paola ; Cook, Arron ; Labrum, Robyn ; Parkinson, Michael H. ; Durr, Alexandra ; Brice, Alexis ; Charles, Perrine ; Marelli, Cecilia ; Mariotti, Caterina ; Nanetti, Lorenzo ; Sarro, Lidia ; Rakowicz, Maria ; Sulek, Anna ; Sobanska, Anna ; Schmitz-Hübsch, Tanja ; Schöls, Ludger ; Hengel, Holger ; Baliko, Laszlo ; Melegh, Bela ; Filla, Alessandro ; Antenora, Antonella ; Infante, Jon ; Berciano, José ; van de Warrenburg, Bart P. ; Timmann, Dagmar ; Szymanski, Sandra ; Boesch, Sylvia ; Nachbauer, Wolfgang ; Kang, Jun Suk ; Pandolfo, Massimo ; Schulz, Jörg B. ; Melac, Audrey Tanguy ; Diallo, Alhassane ; Klockgether, Thomas. / Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias. In: Journal of Neurology. 2018 ; Vol. 265, No. 9. pp. 2040-2051.
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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.",
keywords = "ADL, Depression, Natural history studies, Quality of life, Spinocerebellar ataxia, Trinucleotide repeat diseases",
author = "Heike Jacobi and {du Montcel}, {Sophie Tezenas} and Peter Bauer and Paola Giunti and Arron Cook and Robyn Labrum and Parkinson, {Michael H.} and Alexandra Durr and Alexis Brice and Perrine Charles and Cecilia Marelli and Caterina Mariotti and Lorenzo Nanetti and Lidia Sarro and Maria Rakowicz and Anna Sulek and Anna Sobanska and Tanja Schmitz-H{\"u}bsch and Ludger Sch{\"o}ls and Holger Hengel and Laszlo Baliko and Bela Melegh and Alessandro Filla and Antonella Antenora and Jon Infante and Jos{\'e} Berciano and {van de Warrenburg}, {Bart P.} and Dagmar Timmann and Sandra Szymanski and Sylvia Boesch and Wolfgang Nachbauer and Kang, {Jun Suk} and Massimo Pandolfo and Schulz, {J{\"o}rg B.} and Melac, {Audrey Tanguy} and Alhassane Diallo and Thomas Klockgether",
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TY - JOUR

T1 - Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

AU - Jacobi, Heike

AU - du Montcel, Sophie Tezenas

AU - Bauer, Peter

AU - Giunti, Paola

AU - Cook, Arron

AU - Labrum, Robyn

AU - Parkinson, Michael H.

AU - Durr, Alexandra

AU - Brice, Alexis

AU - Charles, Perrine

AU - Marelli, Cecilia

AU - Mariotti, Caterina

AU - Nanetti, Lorenzo

AU - Sarro, Lidia

AU - Rakowicz, Maria

AU - Sulek, Anna

AU - Sobanska, Anna

AU - Schmitz-Hübsch, Tanja

AU - Schöls, Ludger

AU - Hengel, Holger

AU - Baliko, Laszlo

AU - Melegh, Bela

AU - Filla, Alessandro

AU - Antenora, Antonella

AU - Infante, Jon

AU - Berciano, José

AU - van de Warrenburg, Bart P.

AU - Timmann, Dagmar

AU - Szymanski, Sandra

AU - Boesch, Sylvia

AU - Nachbauer, Wolfgang

AU - Kang, Jun Suk

AU - Pandolfo, Massimo

AU - Schulz, Jörg B.

AU - Melac, Audrey Tanguy

AU - Diallo, Alhassane

AU - Klockgether, Thomas

PY - 2018/9/1

Y1 - 2018/9/1

N2 - 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.

AB - 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.

KW - ADL

KW - Depression

KW - Natural history studies

KW - Quality of life

KW - Spinocerebellar ataxia

KW - Trinucleotide repeat diseases

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