Maintaining mental health in Prader-Willi syndrome
Research type
Research Study
Full title
Maintaining mental health in people with Prader-Willi Syndrome
IRAS ID
252706
Contact name
Paul Fletcher
Contact email
Sponsor organisation
CPFT
Duration of Study in the UK
1 years, 0 months, 30 days
Research summary
Prader-Willi Syndrome (PWS) is a genetically determined disorder, associated with intellectual disabilities, excess hunger and increased risk of severe obesity, and behavioural and mental health problems. The two most common genetic causes are: a) the loss of genetic material from chromosome 15 inherited from the father due to the presence of a small deletion (delPWS); and 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. The aim of this larger study, which has been informed by the pilot study, is to investigate the cognitive and neural mechanisms for this high risk of psychosis in order to inform future treatments.
Given the differential risk for psychosis in the PWS genetic subtypes and the putative roles in the typically developing population of the cholinergic and GABA systems of the brain and of the peripheral autonomic nervous system in the manifestation of psychotic illness, these different systems will be studied in PWS using a cross-sectional case-controlled design. Specifically, for this study clinical, cognitive, sensory, EEG, and Magnetic Resonance Spectroscopy (MRS) neuroimaging assessments will be undertaken in a cohort of children and adults with PWS aged 12 years and older, spanning the age of risk for developing psychosis. These findings will be compared within and between those with the two main genetic subtypes (mUPD and delPWS) across age and between those with and without symptoms of psychosis, and also with a healthy aged-matched control group, thereby testing specific hypotheses as set out in the proposal. Better understanding the mechanisms that underpin the risk for psychosis will inform treatment development.
REC name
Yorkshire & The Humber - Leeds East Research Ethics Committee
REC reference
21/YH/0001
Date of REC Opinion
1 Feb 2021
REC opinion
Further Information Favourable Opinion