University of Groningen
Moving forward in childhood-onset movement disorders Eggink, Hendriekje
DOI:
10.33612/diss.94395271
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2019
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Eggink, H. (2019). Moving forward in childhood-onset movement disorders: a multidisciplinary approach to diagnosis and care. Rijksuniversiteit Groningen. https://doi.org/10.33612/diss.94395271
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University of Groningen
Moving forward in childhood-onset movement disorders A multidisciplinary approach to diagnosis and care
Hendriekje (Wieke) Eggink
Colophon
The research of this thesis was supported by a MD/PhD grant from the University Medical Center Groningen and the Phelps Stichting voor Spastici.
Publication of this thesis was generously supported by the University of Groningen, Stichting Beatrixoord Noord Nederland, University Medical Center Groningen, Research School of Behavioural and Cognitive Neurosciences, Merz Pharma Benelux and Ipsen Farmaceutica.
Lay-out: Jules Verkade, persoonlijkproefschrift.nl
Cover: Tim Valkeman
Printed by: Ipskamp Printing, proefschriften.net ISBN printed version: 978-94-034-1797-4
ISBN digital version: 978-94-034-1796-7
Moving forward in childhood-onset movement disorders A multidisciplinary approach to diagnosis and care
Proefschrift
ter verkrijging van de graad van doctor aan de Rijksuniversiteit Groningen
op gezag van de
rector magnificus prof. dr. C. Wijmenga en volgens besluit van het College van Promoties.
De openbare verdediging zal plaatsvinden op
woensdag 11 september 2019 om 16:15 uur
door
Hendriekje Eggink
geboren op 4 oktober 1988 te Markelo
Promotor
Prof. dr. M.A.J. de Koning-Tijssen
Copromotores
Dr. D.A. Sival Dr. T.J. de Koning
Beoordelingscommissie
Prof. dr. J.G. Becher Prof. dr. J.M. Spikman Prof. dr. J. Vermeulen
Cover
Ontworpen door Tim Valkeman
Op de omslag van dit proefschrift ziet u hoe een groep wielrenners samen een jongen met een bewegingsstoornis (dystonie) de Mont Ventoux omhoog brengt. Dit symboliseert hoe het werken in teamverband de zorg voor patiënten verder kan brengen.
Gerben is de inspiratie voor deze omslag. Hij was de allereerste jongen die meedeed aan mijn onderzoek en de reden waarom ik in 2016 zelf de Mont Ventoux heb mogen beklim- men met de stichting Join4Energy.
Paranifmen
Jeannette Gelauff Maaike Wevers
TABLE OF CONTENTS
Chapter 1 General introduction 8
PART I — Recognition and diagnosis of childhood-onset movement disorders
Chapter 2 Crossing barriers: a multidisciplinary diagnostic approach to children and adults with young-onset movement disorders
Journal of Clinical Movement Disorders. 2018; 5: 3.
20
Chapter 2a Patience is the key: Contraceptive induced chorea in a girl with Down Syndrome European Journal of Paediatric Neurology. 2016 ;20(4): 671-673.
36
Chapter 2b Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation
Movement Disorders. 2017; 32(1): 162-165.
44
Chapter 3 Spasticity, dyskinesia and ataxia in cerebral palsy: Are we sure we can differentiate them?
European Journal of Paediatric Neurology. 2017; 21(5):703-706.
52
PART II — Impact upon health-related quality of life
Chapter 4 Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning
Orphanet Journal of Rare Diseases. 2014; 9: 177.
64
Chapter 5 Motor and non-motor determinants of health-related quality of life in children and young adults with dystonia
Parkinsonism & Related Disorders. 2019; 58: 50-55.
80
PART III — Measuring the effectiveness of treatment in dystonia
Chapter 6 Non-motor effects of deep brain stimulation in dystonia: A systematic review Parkinsonism & Related Disorders. 2018; 55: 26-44.
102
Chapter 7 A patient-centered approach to measure the effectiveness of deep brain stimulation in dystonia: a prospective pilot study
Article submitted
142
Chapter 8 Summary and general discussion 152
Appendices Nederlandse samenvatting 170
List of abbrevations 176
List of Publications 178
Curriculum vitae 182
Dankwoord 184
