Prader-Willi Syndrome: New treatment perspectives and insights

Prader-Willi syndrome (PWS) is a rare genetic disorder caused by the lack of expression of
the PWS region (locus q11-q13) on the paternally inherited chromosome 15 1,2. The incidence
of PWS is estimated at 1:12.000-15.000 live births and it equally affects boys and girls,
without association with ethnic background or social-economic status 3–5. PWS is considered
to be the most common cause of genetic obesity 3. The phenotype of PWS varies greatly, and
the clinical features in people with PWS change during their life 2,6,7. Hypothalamic dysfunction
seems to be the underlying cause for most symptoms of PWS 8.
In 2002, our research group started investigating the effects and safety of growth hormone
(GH) treatment in children with PWS. Today, the long-term benefits of GH-treatment during
childhood are well described, and GH-treatment has substantially changed the phenotype
of children with PWS. Combined with early diagnosis and multidisciplinary care from
a very young age, a new generation of children with PWS has arisen. While the knowledge of
PWS has greatly increased, answering one question often leads to more questions, requiring
further research. This thesis is the 11th thesis of our PWS research group and involves six new
studies about PWS.