University of Groningen
A lifetime with Phenylketonuria
Jahja, Rianne
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2017
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Jahja, R. (2017). A lifetime with Phenylketonuria: Towards a better understanding of therapeutic targets.
Rijksuniversiteit Groningen.
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A lifetime with Phenylketonuria
Towards a better understanding of therapeutic targets
The studies described in this thesis were conducted at the Beatrix Children’s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands, at the Academic Medical Center, Amsterdam, The Netherlands, at the University Hospital Maastricht, Maastricht, The Netherlands, at the Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands, at the University Medical Center St Radboud Nijmegen, Nijmegen, The Netherlands, and at the Erasmus Medical Center, Rotterdam, The Netherlands.
The studies in this thesis were supported by Zorg Onderzoek Nederland (No. 28-2719 granted to L. M. J. de Sonneville), the Dutch PKU Research Foundation (granted to F. J. van Spronsen and S. C. J. Huijbregts), NutsOhra Fund (No. 1003-061 granted to F. J. van Spronsen and S. C. J. Huijbregts) and the Division of Metabolic Diseases of the Beatrix Children’s Hospital of the University Medical Center Groningen, The Netherlands.
The author gratefully acknowledges the financial support for printing this thesis by: Graduate School of Medical Sciences
University of Groningen
University Medical Center Groningen Biomarin
Codexis, Inc Vitaflo
Nutricia Research BV
Cover design: Harald Pieper, Promotie in Zicht Layout: Gildeprint – The Netherlands Printed by: Gildeprint – The Netherlands ISBN: 978-90-367-9903-4 (printed)
978-90-367-9902-7 (digital)
Copyright © R. Jahja, 2017. rianne.jahja@gmail.com
All rights reserved. No part of this thesis may be reproduced or transmitted in any form or by any means without prior written permission of the author and the copyright holders of the published articles.
A lifetime with Phenylketonuria
Towards a better understanding of therapeutic targets
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
dinsdag 27 juni 2017 om 09:00 uur
door
Rianne Jahja
geboren op 6 juni 1986
te Hoorn
A lifetime with Phenylketonuria
Towards a better understanding of therapeutic targets
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 dinsdag 27 juni 2017 om 09:00 uur
door
Rianne Jahja
geboren op 6 juni 1986 te Hoorn
Promotores
Prof. dr. F. J. van Spronsen
Prof. dr. J. J. van der Meere
Copromotor
Dr. S. C. J. Huijbregts
Beoordelingscommissie
Prof. dr. R. H. Lachmann
Prof. dr. G. P. A. Smit
Prof. dr. O. M. Tucha
Paranimfen
Esther van Dam
Wiggert van Ginkel
TABle of ConTenTs
Chapter 1
General Introduction
8
Chapter 2
Mental health and social functioning in early treated
Phenylketonuria: The PKU-COBESO study
26
Chapter 3
Neurocognitive evidence for revision of treatment targets and
guidelines for Phenylketonuria
42
Chapter 4
Cognitive profile and mental health in adult Phenylketonuria:
A PKU-COBESO study
56
Chapter 5
Long-term follow-up of cognition and mental health in adult
Phenylketonuria: A PKU-COBESO study
80
Chapter 6
Social-cognitive functioning and social skills in patients with
early treated Phenylketonuria: A PKU-COBESO study
102
Chapter 7
Is BRIEF a useful instrument in day to day care of patients with
Phenylketonuria?
118
Chapter 8
General Discussion
134
Chapter 9
Summary / Nederlandse Samenvatting
150
Chapter 10
Dankwoord
160
Curriculum Vitae
167
List of abbreviations
171
List of publications
173
Chapter 1
