Psychosocial outcomes in adults with Rasopathies
Research type
Research Study
Full title
A study of psychosocial outcomes in adults with Neurofibromatosis type 1, Noonan syndrome, or other RASopathies.
IRAS ID
339951
Contact name
Emma Burkitt-Wright
Contact email
Sponsor organisation
Murdoch Children’s Research Institute
Duration of Study in the UK
2 years, 3 months, 30 days
Research summary
Neurofibromatosis type 1 (NF1), Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome and Legius syndrome are a group of related genetic conditions called RASopathies. While RASopathies are usually distinguishable from each other by a skilled clinician, they all contain a number of overlapping clinical features including problems with nerves, the heart, muscules, and bones. Additionally, research over the last 20 years has shown that individuals with a RASopathy appear to be at an increased risk of learning difficulties, social challenges, and mental health problems compared to the general population. While these difficulties have been studied in children with different RASopathies, very little research has examined these areas in adults with a RASopathy, nor how they might impact on everyday activities. The goal of this research project is to better understand the degree of learning difficulties, social challenges, and mental health problems in adults with a RASopathy and to investigate the impact these difficulties may have on day-to-day functioning and quality of life.
REC name
South Central - Hampshire B Research Ethics Committee
REC reference
25/SC/0098
Date of REC Opinion
8 May 2025
REC opinion
Further Information Favourable Opinion