PhD defence D.J. (Demi) Timmermans

Below is a brief summary of the dissertation:

This thesis provides an overview of the results of six studies conducted in recent years in children and young adults with Prader–Willi syndrome (PWS). The main aim was to increase knowledge about PWS and to optimize care for children and young adults with PWS and their families. The studies focus on different aspects of treatment and functioning in individuals with PWS. For example, we examine the effects of growth hormone treatment on thyroid hormone levels in children with PWS, as well as on cognitive functioning and behaviour in young adults with PWS. In addition, resting energy expenditure, food intake, and body composition during long-term GH treatment in children with PWS are described. Other treatments are also addressed. This thesis describes the effects of testosterone replacement therapy on behaviour, bone mineral density, and body composition in adolescents and young adults with PWS, as well as the effects of treatment with N-acetylcysteine compared to placebo on skin-picking behaviour and repetitive compulsive behaviour in children and adolescents with PWS. By bringing these topics together, the thesis provides a broad and coherent overview of the impact of different treatments on the lives of individuals with PWS.