Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy

  title={Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy},
  author={Harm Boer and Anthony Holland and Joyce E. Whittington and Jill V Butler and Tessa Webb and David J. Clarke},
  journal={The Lancet},
In a population-based study of Prader Willi syndrome (PWS), we investigated the relation between genetic subtypes of the syndrome and psychiatric morbidity. Of 25 patients aged 18 years or older, seven (28%) had severe affective disorder with psychotic features, with a mean age of onset of 26 years (SD 5.9). The seven people affected, all aged 28 years or older, included all five with disomies of chromosome 15, one with a deletion in this chromosome, and one with an imprinting centre mutation… Expand
Psychotic disorders in Prader–Willi syndrome
This study describes in more detail the psychopathological manifestations of six adults with a history of psychotic episodes and concludes that an identifiable subtype of psychotic disorder was associated with Prader–Willi syndrome. Expand
Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome
The findings of a 10 year follow up study at the Centre for Human Genetics in Leuven, confirming the results of the previous study that psychotic illness in Prader-Willi syndrome is associated with chromosome 15 maternal uniparental disomy. Expand
Prader–Willi syndrome: cycloid psychosis in a genetic subtype?
In PWS patients with a psychotic disorder (cycloid psychosis) a disproportional number of UPD is found and in the majority a genetic analysis was performed to detect the underlying chromosomal defect. Expand
The phenomenology and diagnosis of psychiatric illness in people with Prader–Willi syndrome
A ‘two-hit’ hypothesis, involving imprinted genes on chromosome 15, for the development of affective psychosis in people with PWS, regardless of genetic subtype is presented. Expand
In search of the psychosis gene in people with Prader‐Willi syndrome
Quantitative RT‐PCR studies suggest that a lack of expression of FLJ33332, either as a result of or resulting in gene dysregulation, may be associated with psychosis in Prader‐Willi syndrome. Expand
[Neuropsychiatric aspects of Prader-Willi syndrome – a review].
  • W. Briegel
  • Medicine
  • Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie
  • 2018
Current knowledge about the etiology, physical features, developmental aspects, behavioral phenotype, and psychiatric disorders that occur as well as existing psychopharmacological and psychotherapeutic interventions are reviewed. Expand
Changing rates of genetic subtypes of Prader–Willi syndrome in the UK
This is the first report of a greater proportion (50%) of those with Prader–Willi syndrome due to mUPD in children presently under 5 years living in the UK. Expand
Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy
Post mortem studies reveal a significantly lower number of small oxytocin secreting neurones in the paraventricular hypothalamus and, in some cases, a reduction of vasopressing neurones as well as diminished vasopressin precursor processing. Expand
Cognitive profile in a large French cohort of adults with Prader-Willi syndrome: differences between genotypes.
A global impairment in the intellectual abilities of a large sample of French PWS patients was documented, confirming the previously published differences in the cognitive profiles of the two main PWS genotypes and offering new evidence to support this hypothesis. Expand
Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome.
It is argued that the genetically determined neurodevelopmental disorder Prader-Willi syndrome (PWS), which is associated with a high risk of affective psychotic illness, can provide a window into genetic mechanisms and associated neural pathways that underpin mood regulation and sensory processing. Expand


Prader-Willi syndrome and cycloid psychoses.
It is concluded that subjects with PWS may be especially vulnerable to the development of cycloid psychosis, which suggests the existence of a specific 'psychopathological phenotype'. Expand
Prader-Willi syndrome: consensus diagnostic criteria.
Diagnostic criteria for Prader-Willi syndrome were developed by consensus of seven clinicians experienced with the syndrome in consultation with national and international experts to ensure uniform diagnosis for future clinical and laboratory research in PWS. Expand
Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region
As more and more people with PWS were reported and research into the syndrome began, behavioural characteristics and other clinical features were added, culminating in the consensus diagnostic criteria, and the recognition that gender specific imprinting of genes at that locus accounted for two diverse syndromes being associated with apparently similar chromosomal deletions. Expand
Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood
The SNRPN-expression test is rapid and reliable in the molecular diagnosis of Prader-Willi syndrome and can readily be detected in blood leucocytes by PCR analysis in all control samples but not in samples from known PWS patients. Expand
Depressive episodes in adults with learning disabilities
Objective: In view of the Royal College of Psychiatrists Defeat Depression campaign, to review the existing literature on depressive episodes in people with learning disabilities. Methods: Review ofExpand