Mental health, personal characteristics and sight loss
Research type
Research Study
Full title
Mental health and personal characteristics in Bardet-Biedl syndrome and syndromes associated with sight loss
IRAS ID
242829
Contact name
Jane Waite
Contact email
Sponsor organisation
Aston University
Duration of Study in the UK
5 years, 11 months, 28 days
Research summary
Bardet-Biedl syndrome (BBS) is a rare genetic syndrome associated with learning disabilities and sight loss. There is little research describing the cognitive, behavioural and emotional characteristics of individuals with BBS, despite evidence of specific clinical needs. Previous literature indicates that mental health difficulties may be prevalent in BBS, although the factors that contribute to these difficulties have not been examined. Detailed descriptions of the characteristics of BBS will help to 1) describe the clinical needs of this population, 2) identify correlates of mental health difficulties.
This is a three-stage study:
Stage 1
Aim. We will describe the behavioural, cognitive and emotional characteristics of BBS across the lifespan. Participants. Parents of children with BBS syndrome, or adults with BBS syndrome. A contrast group from a syndrome group with a comparable level of sight loss will also be recruited. This group will be chosen once preliminary BBS data have been analysed, to ensure a similar level of developmental ability across groups.
Method. For under 16s with a syndrome, parents/carers will complete a questionnaire about the behaviour and person characteristics of their child. Parents will also complete a short telephone interview about their child’s daily living skills. For adults over 16s with a syndrome, the adults with a syndrome who have capacity to take part, will have the option to complete a vision and mental health questionnaire over the phone. They will be given a questionnaire pack to pass on to their parent/carer. Parents/carers will complete a short telephone interview about the person’s daily living skills.
Stage 2
This stage aims to identify correlates of mental health difficulties using direct assessment methods with individuals with 60 people with BBS who have learning disabilities, and a contrast group matched for visual impairment and degree of disability.
Stage 3
This stage is a four-year longitudinal follow-up of Stage 1.
REC name
Wales REC 5
REC reference
19/WA/0055
Date of REC Opinion
22 Feb 2019
REC opinion
Favourable Opinion