The Neuro-GD Study
Research type
Research Study
Full title
The Neuro-GD Study: Neurocognitive phenotypes in monogenic developmental disorders (a Musketeers Memorandum Study)
IRAS ID
261241
Contact name
Andrew Stanfield
Contact email
Sponsor organisation
University of Edinburgh
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
Neurodevelopmental disorders are a group of conditions where the brain develops differently from that which would be typically expected. For many neurodevelopmental conditions, the cause is unknown. However, in recent year advances in genetic technology mean that we now know that some of the most marked neurodevelopmental disorders, such as intellectual disability and autism, are caused by changes to the genetic code, called variants.
Although each variant is relatively rare, there are some laboratory studies which have demonstrated that they cause similar changes to brain cell function, raising the possibility that they respond to the same kind of therapies. We therefore aim to see whether the laboratory findings are also seen in people with these variants.
In the proposed study we will therefore conduct a highly detailed examination of people with specific genetic variants associated with neurodevelopmental conditions. We will begin with two conditions, fragile X syndrome and SYNGAP1 related ID, but hope to expand this to include other genetic causes of neurodevelopmental disorders in the future.
In this study, participants will have clinical assessments and tests of brain function, using a method called eye tracking and electroencephalography (EEG). The clinical assessments will mainly involve interviews and questionnaires done by parents / carers. Everyone who takes part will be given a report based on the clinical assessments.
The study will mainly take place over 1-2 visits in Edinburgh, or we may also be able to visit people's homes if that is easier.
REC name
Scotland A: Adults with Incapacity only
REC reference
19/SS/0036
Date of REC Opinion
4 Apr 2019
REC opinion
Favourable Opinion