Anterior Thalamus in Down's syndrome
Research type
Research Study
Full title
An investigation of the Anterior thalamic nuclei and memory functioning across adulthood in individuals with Down's syndrome
IRAS ID
278285
Contact name
Seralynne Vann
Contact email
Sponsor organisation
Cardiff University
Duration of Study in the UK
2 years, 0 months, 3 days
Research summary
Research summary
An investigation of the anterior thalamic nuclei and memory functioning across adulthood in individuals with Down's syndromeThe medial diencephalon is a region of the brain which includes the anterior thalamic nuclei and mamillary bodies, these areas have been shown to be vital for memory, particularly memory for events. Memory problems are well known to occur in Down's syndrome, however, these difficulties are often thought to be due to differences in a part of the brain that has been most often linked to memory, the hippocampus. Possibly for this reason, very little attention has been paid to the role that the anterior thalamic nuclei and mammillary bodies may have in memory difficulties experienced by some individuals with Down's syndrome.
Previous post-mortem work from our laboratory in found that there were striking changes in the anterior thalamic nuclei of older individuals with Down's syndrome, however, it was unclear whether these changes were a core characteristic of Down's syndrome, or whether they were due to the older age of the individuals or the presence of proteins associated with Alzheimer's disease in the brains.
In this study, we will be recruiting adults with Down's syndrome, across two age ranges, to undertake a brain scan and cognitive testing. The aim of the study is to determine whether small anterior thalamic nuclei are a central feature of Down's syndrome, whether these nuclei changes with age in a different way in individuals with and without Down's syndrome. We are also interested in whether any differences in the size of these nuclei may be related to memory impairments seen in individuals with Down’s syndrome.Lay summary of study results
The MRI study was very delayed as we just received NHS ethical approval when COVID hit and due to the participant population, our research study was one of the last to be allowed to re-start. There was an additional year delay after this due to change in staffing. We were then at a point to collect data having optimized the scanning protocol. However, despite extensive recruitment drives, including social media adverts, adverts in, sports, recreational and educational settings, advertisements on specific websites for individuals with Down syndrome, emailing previous study participants, we only managed to recruit two participants with Down syndrome and two controls. From the feedback we got this appeared to be a combination of people still being anxious after COVID as well as aversions to MRI scanners. On assessment of the data we acquired, despite extensive piloting the anterior thalamic nuclei were still not clearly delineated. Due to their location next to the ventricles they are very difficult to accurately visualize and segment, especially if there is any movement. The most suitable protocols would likely need an hour of scanning or to be carried out in a 7T rather than 3T MRI scanner. But both options are difficult. There are a lot of exclusions for 7T scanners including any heart conditions. Staying in a scanner for an hour and staying still can be very difficult for anyone which is why we tried to optimize the protocol for 20 mins to reduce movement and discomfort. Given the lack of uptake to the study and issues with scan quality we got in touch with Jerome leJeune to explain the situation and ask if we could re-direct our efforts and unspent scanning costs towards the post-mortem study and this was agreed. The post-mortem study found some interesting results which have been published.
REC name
East of England - Cambridge East Research Ethics Committee
REC reference
20/EE/0140
Date of REC Opinion
20 Aug 2020
REC opinion
Further Information Favourable Opinion