Prader Willi syndrome: systematic review of the prevalence and nature of presentation of unipolar depression
| Published date | 03 May 2016 |
| Pages | 172-184 |
| Date | 03 May 2016 |
| DOI | https://doi.org/10.1108/AMHID-08-2015-0037 |
| Author | Catherine Walton,Mike Kerr |
| Subject Matter | Health & social care,Learning & intellectual disabilities |
Prader Willi syndrome: systematic
review of the prevalence and nature
of presentation of unipolar depression
Catherine Walton and Mike Kerr
Catherine Walton is a Core
Trainee 3 Psychiatrist at the
Department of Psychiatry,
Cwm Taf University Health
Board, Mid Glamorgan, UK.
Mike Kerr is a Clinical Professor
at the Institute of Psychological
Medicine and Clinical
Neurosciences,
Cardiff University, Cardiff, UK.
Abstract
Purpose –The purpose of this paper is to assess the prevalence and nature of presentation of unipolar
depression in individuals with Prader-Willi syndrome (PWS).
Design/methodology/approach –ThePreferred ReportingItems forSystematic Reviewsand Meta-Analyses
(PRISMA) (2009) checklist for systematic reviews was followed where possible.
Findings –Seven studies were included in the qualitative synthesis from a total of 261 records identified.
The qualityof the studies was then assessed:scores for each study designranged from between 3 and 6 of a
possible score total of 6. The frequency of depression ranged between studies from 4 to 22 per cent. four
studies showed over 50 per cent of patients appeared to suffer from psychotic symptoms. Low mood,
anhedoniaand irritabilitywere describedas featuresof depression, althoughno fixed patternof psychopathology
arose from across the studies (excluding psychosis). This review has provided evidence to suggest that
depressionis a frequent occurrencein the PWS population.One study found that the incidence of depression
differed between the genetic subtypes, raising questions regarding the relationship between genotype and
behaviouralphenotypes. A high proportion of individuals with depression suffered from psychotic symptoms.
Research limitations/implications –The small number of heterogeneous studies included in this study
precluded meta-analysis of the results. This highlights the need for further original research in this field.
Practical implications –An increased awareness of the frequency of depressivesymptoms within the PWS
population will aid in the timely diagnosis and management of the disorder which will reduce psychiatric
morbidity. The noted high proportion of psychotic symptoms associated with depression should raise the
index of suspicion with clinicians and aid appropriate management decisions.
Originality/value –This review has provided preliminary evidence for the nature of presentation of unipolar
depression in PWS. It has highlighted the possibility of an increased propensity towards depression with
psychotic symptoms. There is some suggestion of a differing presentation and course of unipolar depression
between the common genetic subtypes of PWS which warrants further investigation.
Keywords Depression, Intellectual disability, Psychosis, Mood disorder, Prader-Willi syndrome,
Unipolar depression
Paper type Literature review
Introduction
Prader-Willi syndrome (PWS)is a neurodevelopmentaldisorder with an estimated birth incidenceof
1 in 22,000 (Whittington et al., 2001). It is caused by a lack of paternal expres sion of imprinted genes
at the critical region 15q11-q13. The main mechanisms are deletion at 15q11-q13 ( delPWS) of
paternal origin, which occurs in 70 per cent of cases, or maternal uniparental disomy (mUPD)
of chromosome 15, occurring in 25 per cent of cases. Less than 5 per cent of cases have other
causessuch as unbalanced chromosomal translocations or defects in imprinting (Roof et al., 2000).
Received 20 August 2015
Revised 13 February 2016
Accepted 18 April 2016
PAGE172
j
ADVANCESIN MENTAL HEALTH AND INTELLECTUAL DISABILITIES
j
VOL. 10 NO. 3 2016, pp.172-184, © Emerald Group Publishing Limited, ISSN 2044-1282 DOI 10.1108/AMHID-08-2015-0037
To continue reading
Request your trial