Start small, think big: Growth monitoring, genetic analysis, treatment and quality of life in children with growth disorders

The aim of this thesis is to focus on issues that arise when dealing with children with growth disorders – from growth monitoring and genetic analysis to treatment effects on growth and quality of life.
The first part of this thesis focuses on guidelines for diagnostic workup of children with growth disorders, including either growth failure or overgrowth. First, we retrospectively investigated the sensitivity and specificity of guidelines for diagnostic workup currently used in the Netherlands, Finland and the UK in a Dutch cohort of children aged 3 to 10 years with growth failure (Chapter 2). Second, in Chapter 3 we performed a similar study in adolescents, taking into account the influence of puberty on growth. Third, we investigated the diagnostic workup and follow-up in children with tall stature (Chapter 4).
In the second part of this thesis we performed genetic analyses in small for gestational age (SGA) newborns. In Chapter 5 we present our study investigating SGA newborns, using a combination of array-CGH, genome wide methylation array and whole exome sequencing (WES).
Part three of the thesis focuses on treatment of short children. We investigated the effect of growth hormone treatment in patients with maternal uniparental disomy of chromosome 14 in Chapter 6. The final part of this thesis describes the translation process and psychometric testing of the original European Quality of Life in Short Stature Youth (QoLISSY) questionnaire, developed to evaluate the health-related QoL in short children, as presented in Chapter 7.