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Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy

¹ Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands
² Department of Psychiatry, Erasmus University Medical Centre, Rotterdam, The Netherlands
³ Clinical Genetics Department, University Maastricht, The Netherlands

Correspondence to:
Professor Dr W M A Verhoeven
Vincent van Gogh Institute for Psychiatry, Stationsweg 46, 5803 AC Venray, The Netherlands; wverhoeven@vvgi.nl]

Keywords: Prader-Willi; UPD; bipolar affective disorder; deletion; psychosis

Abbreviations: PWS, Prader-Willi syndrome; UPD, uniparental disomy

The first 150 words of the full text of this article appear below.

Prader-Willi syndrome (PWS) is a neurogenetic disorder resulting from the absence of a normal paternal contribution to the chromosome 15q11-13 region. The clinical manifestations of PWS are: reduced fetal activity during pregnancy, a transient severe hypotonia and feeding problems in the neonatal period, a variable degree of mental retardation, hyperphagia, obsessive compulsive features such as skin picking, and a variety of hypothalamic dysfunctions. The latter become manifest as hypogonadism, short stature, sleep disturbances, and defects in temperature regulation. In addition, post mortem studies reveal a significantly lower number of small oxytocin secreting neurones in the paraventricular hypothalamus and, in some cases, a reduction of vasopressin secreting neurones as well as diminished vasopressin precursor processing.^1,2

Apart from the behavioural problems associated with food seeking and intellectual disability per se, PWS carries the risk of obsessive compulsive disorder, mood abnormalities and psychotic disorders.^3–5 Given the high prevalence of these psychiatric symptoms,⁶ the . . . [Full text of this article]