Phenotypes in Intellectual Disability
Research type
Research Study
Full title
Neuroanatomical, Cognitive and Behavioural Phenotypes in Intellectual Disability of Genetic Origin
IRAS ID
218755
Contact name
FL Raymond
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and University of Cambridge
Clinicaltrials.gov Identifier
83633, IRAS project number for existing England/Wales/Northern Ireland arm of the project
Duration of Study in the UK
0 years, 6 months, 31 days
Research summary
Intellectual disability (ID, previously known as learning disability or mental retardation) refers to lifelong impairment in cognition and behaviour due to abnormal brain development. When ID is first recognised, families have many
questions: What is different about our child's development? What has caused this problem? How can we best help our child? For rare or unique genetic causes of ID, the answers to these questions are not currently available, because of very limited understanding of how different genetic disruptions cause ID.
This project will investigate how different genetic abnormalities can affect cognitive development leading to ID. In some families, ID is inherited as an X-linked trait, and a specific sequence abnormality has been described consistent with a single gene defect causing disease. In other individuals, an unusual chromosome pattern (translocation) or small missing or extra section of a chromosome (deletion or duplication) is picked up. It is possible to pinpoint the specific
gene responsible for ID in an increasing number of individuals.
This project will build on these genetic discoveries by finding out how each different genetic abnormality affects the human cognitive development. By using specially designed computerised tasks and Magnetic Resonance Imaging
brain scans, we aim to find out which aspects of cognitive development and brain function are disrupted in patients with ID due to different genetic causes. We will also explore why the severity of ID varies from patient to patient, even when the
same genetic abnormality is responsible.
In future, it may be possible to predict the phenotypic effect of specific mutations, to assist in confirming pathogenicity. Ultimately we hope to develop targeted treatments that can improve the specific aspects of cognitive development disrupted. Modest improvements in cognitive function can have a major impact on an individual’s ability to lead a more independent life.REC name
Scotland A: Adults with Incapacity only
REC reference
17/SS/0070
Date of REC Opinion
16 Aug 2017
REC opinion
Further Information Favourable Opinion