IMAGINE 2
Research type
Research Study
Full title
IMAGINE-2: Stratifying Genomic Causes of Intellectual Disability by Mental Health Outcomes in Childhood and Adolescence.
IRAS ID
283890
Contact name
David Skuse
Contact email
Sponsor organisation
Division of Research & Innovation, Joint R&D Office for GOSH/ICH
Duration of Study in the UK
4 years, 3 months, 28 days
Research summary
In England, there are over a million people with learning disabilities, a quarter of whom are children of school age. Most moderate to severe intellectual disability (ID) has a genetic cause. In order to identify those genetic risks, the NHS is now routinely screening the DNA of children who have significant developmental delays. Being informed that their child's ID is caused by a genetic change is of value to parents. But, at present, we can rarely use that information to advise on best management of behavioural and educational issues, or to reduce the risk of poor mental health outcomes. Our study aims to fill that gap in knowledge.
Our IMAGINE-ID programme of research began in 2014. By 2019 we had recruited 3,402 UK families whose child has ID due to a genetic cause. Using a combination of online interviews, questionnaires, and face-to-face meetings with families, we built up a comprehensive picture of those children's strengths and weaknesses. We discovered there was a far greater risk of severe behavioural and emotional problems than was previously recognised. Whilst children with ID from the general population are about six times as likely to have problems of this nature, the risk is over thirty times greater if the disability has a genetic cause.
We also discovered that children whose genetic risk was inherited had more severe emotional and behavioural problems than those in which the equivalent change occurred by chance. Perhaps parents who carry the genetic anomaly could be mildly affected by it, although they do not share the same degree of disability as their child? They are more likely than other families participating in our research programme to live in disadvantaged circumstances with overcrowding, poor quality housing, and unemployment. Adverse social circumstances would contribute to parenting difficulties and exacerbate their child's problems. We need to learn more about these important points of vulnerability. Families at risk could be identified sooner, and supported more effectively in future, if we understood more about the processes that led to their difficulties. These questions will be addressed by our new research.
We aim to conduct a 5-year longitudinal study of the cohort with annual online phenotyping of all participants (Workstream 1), supplemented by intensive face-to-face assessments of over 500 young people with highly pathogenic CNV that were intensively studied in our first phase (Workstream 2).
REC name
London - South East Research Ethics Committee
REC reference
20/LO/1271
Date of REC Opinion
4 Feb 2021
REC opinion
Further Information Favourable Opinion