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Start small, think big: Growth monitoring, genetic analysis, treatment and quality
of life in children with growth disorders
Stalman, S.E.
Publication date
2016
Document Version
Final published version
Link to publication
Citation for published version (APA):
Stalman, S. E. (2016). Start small, think big: Growth monitoring, genetic analysis, treatment
and quality of life in children with growth disorders.
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Start Small,
Think Big
Growth monitoring, genetic
analysis, treatment and
quality of life in children
with growth disorders
St
art Small, Think Big
Susanne E. St
alman
Start Small,
Think Big
Growth monitoring, genetic
analysis, treatment and
quality of life in children
with growth disorders
ISBN 978 94 6169 962 6
© 2016 Susanne Stalman, Amsterdam All rights reserved
Cover design: Marieke Veere Vonk en Susanne Stalman Drawings: Marieke Veere Vonk (www.mariekeveere.com) Tekstcorrectie: Margreet de Broekert
Electronic version: http://www.epubs.nl/?epub=s.stalman
Layout and printing: Optima Grafische Communicatie, Rotterdam, The Netherlands
Publication of this thesis was financially supported by: Tergooi Hospitals and AMR Medical Research
The sponsors, who are all gratefully acknowledged, had no involvement in any stage of the study design, data collection, data-analysis, interpretation of the data or the deci-sion to publish study results
Start Small, Think Big
Growth monitoring, genetic analysis, treatment andquality of life in children with growth disorders
ACADEMISCH PROEFSCHRIFT
ter verkrijging van de graad van doctor aan de Universiteit van Amsterdam op gezag van de Rector Magnificus
prof. dr. ir. K.I.J. Maex
ten overstaan van een door het College voor Promoties ingestelde commissie, in het openbaar te verdedigen in de Agnietenkapel
op dinsdag 8 november 2016, te 12:00 uur
door Susanne Elisabeth Stalman geboren te Amsterdam
Promotiecommissie
Promotor prof. dr. R.C.M. Hennekam
Universiteit van Amsterdam
Co-promotores dr. F.B. Plötz
Tergooiziekenhuizen
dr. G.A. Kamp
Tergooiziekenhuizen
Overige leden prof. dr. M.A. Grootenhuis
Universiteit van Amsterdam
prof. dr. H.S.A. Heymans
Universiteit van Amsterdam
prof. dr. M.M.A.M. Mannens
Universiteit van Amsterdam
dr. A.S.P. van Trotsenburg
Universiteit van Amsterdam
prof. dr. A.C.S. Hokken-Koelega
Erasmus Universiteit Rotterdam
dr. W. Oostdijk
Universiteit Leiden
dr. M.M. van Weissenbruch
Vrije Universiteit Amsterdam
Table of contents
Chapter 1 General Introduction and Thesis Outline 9
Part 1 Growth monitoring 19
Chapter 2 Application of the Dutch, Finnish and British Screening Guidelines in a Cohort of Children with Growth Failure.
Hormone Research in Paediatrics 2015;84(6):376-82
21
Chapter 3 Growth Failure in Adolescents: Etiology, the Role of Pubertal Timing and Most Useful Criteria for Diagnostic Workup.
Journal of Pediatric Endocrinology and Metabolism 2016;29(4):465-73
35
Chapter 4 Diagnostic Work-up and Follow-up in Children with Tall Stature: A Simplified Algorithm for Clinical Practice.
Journal of Clinical Research in Pediatric Endocrinology 2015;7(4):260-7
53
Part II Genetic Analysis 73
Chapter 5 Genetic Analysis in Small for Gestational Age Newborns
[Submitted]
Part III Treatment 103
Chapter 6 Positive Effect of Growth Hormone Treatment in Maternal Uniparental Disomy Chromosome 14.
Clinical Endocrinology (Oxf ). 2015;83(5):671-6
105
Part IV Quality of Life 121
Chapter 7 Psychometric Performance of the Quality of Life in Short Stature Youth (QoLISSY) Questionnaire in the Netherlands.
European Journal of Pediatrics 2016;175(3):347-54
123
Chapter 8 Summary and General Discussion 141
Appendices Curriculum Vitae 169
List of Co-Authors 171
PhD Portfolio 175
Dankwoord (Acknowledgements, in Dutch) 179