Branding/Logomark minus Citation Combined Shape Icon/Bookmark-empty Icon/Copy Icon/Collection Icon/Close Copy 7 no author result Created with Sketch. Icon/Back Created with Sketch. Match!

A longitudinal follow-up study of people with Prader–Willi syndrome with psychosis and those at increased risk of developing psychosis due to genetic subtype

Published on Aug 1, 2014in Psychological Medicine 5.64
· DOI :10.1017/S0033291713002961
F. V. Larson1
Estimated H-index: 1
(University of Cambridge),
Joyce Whittington25
Estimated H-index: 25
(University of Cambridge)
+ 1 AuthorsAnthony J. Holland50
Estimated H-index: 50
(University of Cambridge)
Cite
Abstract
Background People with Prader–Willi syndrome (PWS), a genetically defined developmental disorder, are at increased risk of developing psychotic illness. This is particularly the case for those with a genetic subtype of PWS called maternal uniparental disomy (mUPD), where rates of psychosis are more than 60% by early adult life. Little is known about the long-term course of their disorder. Method Individuals who had had episodes of psychosis or were at increased risk of developing psychosis due to their genetic subtype and had taken part in a previous study were contacted. Ten people were untraceable or deceased, leaving a total of 38 potential participants. Of these, 28 agreed to take part in a follow-up interview or complete a questionnaire about their mental health and medication. This represented 20/35 (57.1%) people from the original study who had had psychosis and 8/13 (61.5%) people who were at risk due to their genetic subtype. They were thought to be representative of those groups as a whole based on IQ and number of episodes of psychosis. Results Two individuals had had recurrent episodes of psychosis while all others remained well. There were no new-onset cases of psychosis in those at risk. Individuals with PWS remained on high levels of psychiatric medication throughout the follow-up period. Conclusions Recurrent episodes of psychosis may be rare in people with PWS once stability has been achieved in the management of their illness. We speculate that this may be due to the protective influence of medication.
  • References (11)
  • Citations (9)
Cite
References11
Newest
Published on Sep 1, 2011in Research in Developmental Disabilities 1.87
Margje Sinnema10
Estimated H-index: 10
,
Harm Boer16
Estimated H-index: 16
+ 4 AuthorsLeopold Curfs30
Estimated H-index: 30
Abstract Previous studies have suggested an association between PWS and comorbid psychiatric illness. Data on prevalence rates of psychopathology is still scarce. This paper describes a large-scale, systematic study investigating the prevalence of psychiatric illness in a Dutch adult PWS cohort. One hundred and two individuals were screened for psychiatric illness. Case vignettes were written by the first author on 63 individuals with a positive screening on psychopathology according to the inte...
Published on Jun 15, 2009in Human Molecular Genetics 4.54
Christine M. Doe2
Estimated H-index: 2
(Cardiff University),
Dinko Relkovic5
Estimated H-index: 5
(Cardiff University)
+ 5 AuthorsAlan Isles28
Estimated H-index: 28
(University of Cambridge)
The Prader–Willi syndrome (PWS) genetic interval contains several brain-expressed small nucleolar (sno)RNA species that are subject to genomic imprinting. In vitro studies have shown that one of these snoRNA molecules, h/mbii-52, negatively regulates editing and alternative splicing of the serotonin 2C receptor (5htr2c) pre-RNA. However, the functional consequences of loss of h/mbii-52 and subsequent increased post-transcriptional modification of 5htr2c are unknown. 5HT2CRs are important in cont...
Published on Oct 1, 2008in Psychological Medicine 5.64
Sarita Soni6
Estimated H-index: 6
(University of Cambridge),
Joyce Whittington25
Estimated H-index: 25
(University of Cambridge)
+ 4 AuthorsD Clarke18
Estimated H-index: 18
Background. Psychotic illness is strongly associated with the maternal uniparental disomy (mUPD) genetic subtype of Prader-Willi syndrome (PWS), but not the deletion subtype (delPWS). This study investigates the clinical features of psychiatric illness associated with PWS. We consider possible genetic and other mechanisms that may be responsible for the development of psychotic illness, predominantly in those with mUPD. Method. The study sample comprised 119 individuals with genetically confirme...
Published on Apr 1, 2008in American Journal of Medical Genetics Part A 2.20
T. Webb19
Estimated H-index: 19
,
Esther N. Maina11
Estimated H-index: 11
+ 4 AuthorsAnthony J. Holland50
Estimated H-index: 50
(University of Cambridge)
The two main causes of Prader-Willi syndrome (PWS) are a paternally derived deletion in the maternally imprinted 15q11–q13 region or UPD(15)mat. Both mechanisms result in a loss of the active paternal contribution to the region. The affective psychosis associated with PWS has been found to be mainly confined to the propositi with UPD(15)mat rather than to those with a deletion. This suggests that the psychosis may be related to the presence of two copies rather than a single copy of a gene or ge...
Published on Jan 1, 2007in Journal of Intellectual Disability Research 1.94
Sarita Soni6
Estimated H-index: 6
(University of Cambridge),
Joyce Whittington25
Estimated H-index: 25
(University of Cambridge)
+ 4 AuthorsD Clarke18
Estimated H-index: 18
Background This study is part of a larger UK-wide study investigating psychiatric illness in people with Prader–Willi syndrome (PWS), and describes the longitudinal aspect of psychiatric illness, in particular psychotic illness, and examines the use and role of psychotropic medication. Method A total of 119 individuals with genetically confirmed PWS were included in the study. An informant-based questionnaire was administered for each participant to screen for a history of psychopathology. Those...
Published on Jun 15, 2004in American Journal of Medical Genetics Part A 2.20
Annick Vogels24
Estimated H-index: 24
(Katholieke Universiteit Leuven),
M. DeHert65
Estimated H-index: 65
(Katholieke Universiteit Leuven)
+ 5 AuthorsJ. P. Fryns87
Estimated H-index: 87
(Katholieke Universiteit Leuven)
The Prader–Willi syndrome (PWS) is a genetically determined developmental disorder caused by abnormalities of the proximal region of chromosome 15q11-13. In a previous study, we reported that psychotic episodes, occurring in 16% of persons with PWS, had an onset in adolescence, never occurred in persons with paternal deletion, and were exclusively associated with maternal uniparental disomy (UPD) or imprinting abnormalities (IM). In order to gain a better understanding of the psychopathology and...
Published on Jan 1, 2004
Joyce Whittington25
Estimated H-index: 25
,
Tony Holland3
Estimated H-index: 3
Published on Jan 1, 2003in Psychological Medicine 5.64
Anthony J. Holland50
Estimated H-index: 50
(University of Cambridge),
Joyce Whittington25
Estimated H-index: 25
(University of Cambridge)
+ 3 AuthorsD. Clarke1
Estimated H-index: 1
(University of Cambridge)
Background. Prader-Willi syndrome (PWS) is a genetic disorder resulting in obesity, short stature, cryptorchidism, learning disabilities (mental retardation) and severe neonatal hypotonia. Associated with the syndrome are a number of behaviours that are sufficiently distinctive that the syndrome is considered to have a specific ‘behavioural phenotype’. Methods. Through multiple sources we attempted to identify all people with PWS living in one region in the UK. This cohort was augmented by peopl...
Published on Jan 1, 2002in The Lancet 59.10
Harm Boer16
Estimated H-index: 16
,
Anthony J. Holland50
Estimated H-index: 50
(University of Cambridge)
+ 3 AuthorsDavid Clarke10
Estimated H-index: 10
Summary 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 mut...
Published on May 1, 1995in Psychosomatics 1.54
Richard C.W. Hall13
Estimated H-index: 13
(UF: University of Florida)
The modified Global Assessment of Functioning (GAF) scale has more detailed criteria and a more structured scoring system than the original GAF. The two scales were compared for reliability and validity. Raters who had different training levels assigned hospital admission and discharge GAF scores from patient charts. Intraclass correlation coefficients for admission GAF scores were higher for raters who used the modified GAF (0.81), compared with raters who used the original GAF (0.62). Validity...
Cited By9
Newest
Published on May 8, 2019in American Journal of Medical Genetics Part A 2.20
Deepan Singh2
Estimated H-index: 2
,
Arielle Sasson (SBU: Stony Brook University)+ 3 AuthorsMoris Angulo8
Estimated H-index: 8
(Winthrop-University Hospital)
Published on Dec 1, 2018in Neuroscience & Biobehavioral Reviews 8.00
Joyce Whittington25
Estimated H-index: 25
(University of Cambridge),
Anthony J. Holland50
Estimated H-index: 50
(University of Cambridge)
Abstract We present a review of psychiatric associations with comorbid mental and behavioural disorders affecting people with Prader-Willi syndrome (PWS). This literature review suggests that some assumptions about psychiatric associations of PWS behaviours are unjustified (eg skin picking as OCD) and that genetic aetiology should be considered when making associations between PWS mental and behavioural disorders and psychiatric disorders in the general populationThe literature review also demon...
Published on Jan 1, 2018in The Lancet Psychiatry 18.33
Lucie C S Aman1
Estimated H-index: 1
(University of Cambridge),
Katherine Manning3
Estimated H-index: 3
(University of Cambridge)
+ 1 AuthorsAnthony J. Holland50
Estimated H-index: 50
(University of Cambridge)
Summary Schizophrenia and bipolar disorder are common, severe, and disabling psychotic disorders, which are difficult to research. We argue 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. People with PWS can all show non-psychotic psychopathology and problem behaviours, but the prevalence of psychotic illness di...
Published on Dec 1, 2016in Orphanet Journal of Rare Diseases 3.69
Lauren Schwartz20
Estimated H-index: 20
(UW: University of Washington),
Anthony J. Holland50
Estimated H-index: 50
(University of Cambridge)
+ 3 AuthorsJessica Bohonowych1
Estimated H-index: 1
This paper reports on the ‘Prader-Willi Syndrome (PWS) Mental Health Research Strategy Workshop’ that took place in March 2015. PWS is characterized by a complex phenotype affecting multiple systems with a high prevalence of maladaptive behaviours, and neuropsychiatric illness. Prader Willi syndrome results from the absence of paternally derived alleles located at the imprinted chromosomal locus, 15q11–13. The goal of the workshop was to highlight the state of the science of the mental health of...
Published on Sep 1, 2016in Clinical Pediatrics 1.38
Merlin G. Butler52
Estimated H-index: 52
(KU: University of Kansas),
Jaehoon Lee21
Estimated H-index: 21
(TTU: Texas Tech University)
+ 7 AuthorsDaniel J. Driscoll36
Estimated H-index: 36
(UF: University of Florida)
The purpose of the current study was to develop syndrome-specific standardized growth curves for growth hormone–treated Prader-Willi syndrome (PWS) individuals aged 0 to 18 years. Anthropometric growth-related measures were obtained on 171 subjects with PWS who were treated with growth hormone for at least 40% of their lifespan. They had no history of scoliosis. PWS standardized growth curves were developed for 7 percentile ranges using the LMS method for weight, height, head circumference, weig...
Published on May 1, 2015in American Journal of Medical Genetics Part A 2.20
Sin T. Lo3
Estimated H-index: 3
(Erasmus University Medical Center),
P.J.L. Collin1
Estimated H-index: 1
,
Anita C. S. Hokken-Koelega41
Estimated H-index: 41
(Erasmus University Medical Center)
Psychiatric disorders such as psychosis are highly prevalent in adults with Prader–Willi syndrome (PWS). However, knowledge about the presence and progression of psychiatric disorders in children with PWS is very limited. Sixty-one children with PWS aged 7–17 years were tested using the Diagnostic Interview Schedule for Children (DISC) and Compulsive Behaviour Checklist (CBC), and 38/61 were retested after 2 years. Prevalence of psychiatric disorders and the association with age, gender, genetic...
Background: Psychiatric symptoms are prevalent in patients with Prader-Willi syndrome (PWS), mainly behaviour disorders (temper tan
Published on Dec 1, 2014in Epigenomics 4.40
Maja Krefft3
Estimated H-index: 3
,
Dorota Frydecka15
Estimated H-index: 15
+ 1 AuthorsBłażej Misiak15
Estimated H-index: 15
Prader-Willi syndrome (PWS) is a relatively rare disorder that originates from paternally inherited deletions and maternal disomy (mUPD) within the 15q11-q13 region or alterations in the PWS imprinting center. Evidence is accumulating that mUPD underlies high prevalence of psychosis among PWS patients. Several genes involved in differentiation and survival of neurons as well as neurotransmission known to act in the development of PWS have been also implicated in schizophrenia. In this article, w...
Published on Sep 25, 2014
Willem M.A. Verhoeven14
Estimated H-index: 14
(EUR: Erasmus University Rotterdam),
J.I.M. Egger16
Estimated H-index: 16
(Radboud University Nijmegen)
Since both intellectual disability and challenging behaviour are entities encompassing heterogeneous clinical conditions and current taxonomies are of limited use in this field of psychiatry, diagnosing psychiatric symptoms in intellectually disabled patients is still very complex. In the diagnostic process of psychiatric symptoms and behavioural abnormalities, the first step should be genome profiling using the latest techniques in order to detect pathogenic CNVs or single gene mutations that a...