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

    flr24@cam.ac.uk

  • 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