Publications about genetic testing for neurological disorders
  1. Evolution of outcome measures in spinocerebellar ataxias

Evolution of outcome measures in spinocerebellar ataxias

Heike Jacobi, MD 1, 2 ST du Montcel 3, 4 Prof. Peter Bauer, MD 5, 6 P Giunti 7 A Cook 7 R Labrum 7 MH Parkinson 7 A Durr 3 A Brice 3 P Charles 8 C Marelli 9 Ludger Schöls, MD 5, 1 Alessandro Filla, MD 10 Bart van de Warrenburg, MD 11 Dagmar Timmann, MD 12 Sylvia Boesch, MD 13 Jun-Suk Kang, MD 14 Prof. Jörg B. Schulz, MD 15 Thomas Klockgether, MD 1, 16
1 German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany 2 University of Heidelberg 3 Sorbonne University Paris 4 Groupe Hospitalier Pitié-Salpêtrière, Paris, France 5 University Hospital of Tübingen 6 CENTOGENE AG 7 University College London 8 Pitié-Salpêtrière Hospital, Paris, France 9 Hospital Gui De Chauliac, Montpellier, France 10 Federico II University Naples, Italy 11 Radboud University Medical Centre Nijmegen 12 University of Duisburg-Essen 13 Medical University, Innsbruck, Austria 14 University of Frankfurt 15 RWTH Aachen University 16 University Hospital Bonn
June 29, 2018

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

J Neurol. 2018 Jun 29. doi: 10.1007/s00415-018-8954-0. [Epub ahead of print]

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.