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Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy
  1. W M A Verhoeven1,2,
  2. S Tuinier1,
  3. L M G Curfs3
  1. 1Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands
  2. 2Department of Psychiatry, Erasmus University Medical Centre, Rotterdam, The Netherlands
  3. 3Clinical Genetics Department, University Maastricht, The Netherlands
  1. Correspondence to:
 Professor Dr W M A Verhoeven
 Vincent van Gogh Institute for Psychiatry, Stationsweg 46, 5803 AC Venray, The Netherlands; wverhoevenvvgi.nl

https://doi.org/10.1136/jmg.40.10.e112

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    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 term psychopathological phenotype is justified.7

    METHODS AND RESULTS

    Over the past seven years, 23 PWS patients (mean age 31 years) were referred for neuropsychiatric evaluation because of long lasting or recurrent behavioural problems and psychotic symptoms (mean age at onset 24 years). Part of the data on …

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