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UvA-DARE is a service provided by the library of the University of Amsterdam (https://dare.uva.nl)

UvA-DARE (Digital Academic Repository)

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.

General rights

It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons).

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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

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Start Small,

Think Big

Growth monitoring, genetic

analysis, treatment and

quality of life in children

with growth disorders

(4)

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

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Start Small, Think Big

Growth monitoring, genetic analysis, treatment and

quality 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

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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

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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

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Appendices Curriculum Vitae 169

List of Co-Authors 171

PhD Portfolio 175

Dankwoord (Acknowledgements, in Dutch) 179

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