University of Groningen Reliability of diagnostic measures in early onset ataxia Brandsma, Rick

University of Groningen

Reliability of diagnostic measures in early onset ataxia

Brandsma, Rick

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Publication date: 2018

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Brandsma, R. (2018). Reliability of diagnostic measures in early onset ataxia. Rijksuniversiteit Groningen.

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Reliability of diagnostic

measures in

early onset ataxia

This research was supported by grants of the European Pediatric Neurology Society

ISBN 978-94-034-0911-5 (book) 978-94-034-0912-2 (ebook)

Cover design C. Brandsma, Emmen; D. Oppewal, Groningen Lay-out D. Oppewal, oppewal.nl

Printed by Ipskamp Printing, Amsterdam. www.ipskampprinting.nl

© Rick Brandsma, 2018

No part of this thesis may be reproduced or transmitted in any form or by any means, electronic, mechanical, including photocopy recording or otherwise without permission of the author.

Reliability of diagnostic

measures in

early onset ataxia

Proefschrift

ter verkrijging van de graad van doctor aan de Rijksuniversiteit Groningen

op gezag van de

rector magnificus prof. dr. E. Sterken en volgens besluit van het College voor Promoties.

De openbare verdediging zal plaatsvinden op

maandag 17 september 2018 om 11:00 uur

door

Rick Brandsma

geboren op 21 juli 1984 te Emmen

4

Promotores

Prof. dr. M.A.J. de Koning-Tijssen Prof. dr. O.F. Brouwer

Copromotores Dr. D.A. Sival Dr. H. Burger Beoordelingscommissie Prof. dr. G.H. de Bock Prof. dr. B. Dan

5

Paranimfen Drs. A. Bakker-Bolt Drs. P.J.L. Orsel-Veenstra

7

CONTENTS

Chapter 1 General introduction

9

Reliability of quantitative diagnostic measures of early onset ataxia 21

Chapter 2 Ataxia Rating Scales are Age-Dependent in Healthy Children

23

Dev Med Child Neurol 2014;56(6):556-63

Chapter 3 Assessment of Speech in Early Onset Ataxia: A Pilot Study

41

Dev Med Child Neurol 2014; 56(12):1202-6

Chapter 4 Age-Related Reference Values for the Pediatric Scale for Assessment 53

and Rating of Ataxia – A Multicenter Study –

Dev Med Child Neurol 2017; 59(10):1077-1082

Chapter 5 Construct Validity and Reliability of the SARA Gait and Posture

67

Sub-scale in Early Onset Ataxia

Front Hum Neurosci. 2017 Dec 13;11:605

Chapter 6 Reliability and Discriminant Validity of Ataxia Rating Scales

87

in Early Onset Ataxia

Dev Med Child Neurol 2017; 59(4):427-432

Reliability of phenotypic assessment in early onset ataxia 101

Chapter 7 Reliability of Phenotypic Early Onset Ataxia Assessment:

103

A Pilot Study

Dev Med Child Neurol 2016;58(1):70-76

Chapter 8 A Clinical Diagnostic Algorithm in Early Onset Ataxia

117

In preparation

Chapter 9 Summary and general discussion

145

Chapter 10 Nederlandse samenvatting

155

Dankwoord

162

Curriculum Vitae

165