Feasibility study of mechanisms of psychosis in Prader-Willi syndrome
Research type
Research Study
Full title
Study of feasibility and acceptability of cognitive, psychiatric and neuroimaging measures investigating mechanisms of psychosis in people with Prader-Willi syndrome.
IRAS ID
216993
Contact name
Anthony Holland
Contact email
Sponsor organisation
CPFT
Duration of Study in the UK
0 years, 4 months, 11 days
Research summary
Prader-Willi Syndrome (PWS) is a genetically determined disorder, associated with intellectual disabilities, excess hunger, severe obesity, and behavioural and mental health problems. The two most common causes are: a) the loss of genetic material from chromosome 15 inherited from the father (delPWS); b) the inheritance of two copies of chromosome 15 from mother rather than one from each parent (maternal uniparental disomy; mUPD). People with this mUPD subtype have a high risk for psychotic illness (>60% by early adult life) compared to a rate of c.10-16% in the delPWS population.
In collaboration with academic colleagues and people with PWS aged 18 to 40 years and their families, the aims of this study are two-fold: 1) to evaluate the feasibility and acceptability of the proposed measures in order to then extend the study to a larger population of people with PWS aged 12 and older; 2) to undertake preliminary investigations of the cognitive and neural mechanisms accounting for this high risk of psychosis to inform the hypotheses of, and to aid sample size calculations in, any future larger study.
Given the differential risk for psychosis in the PWS genetic subtypes and the putative roles in the typically developing population of the immune, the brain cholinergic and GABA systems and the peripheral autonomic nervous system in the manifestation of psychotic illness, these aspects will be studied in PWS using a cross-sectional case-controlled design. Specifically, for this pilot study clinical, cognitive, EEG, and neuroimaging assessments will be undertaken in a small cohort of adults with PWS, and the findings compared between those with each of the two main genetic subtypes (mUPD and delPWS). These results will be analysed and participants and their families (or paid carers) will also be interviewed so as to inform the methodology of the proposed future larger study.
REC name
East of England - Cambridge South Research Ethics Committee
REC reference
17/EE/0433
Date of REC Opinion
13 Feb 2018
REC opinion
Further Information Favourable Opinion