The Behavioural Phenotype of Cornelia de Lange and Fragile X syndrome
Research type
Research Study
Full title
Understanding the behavioural, cognitive and motor phenotypes of Cornelia de Lange and Fragile X syndromes
IRAS ID
208284
Contact name
Chris Oliver
Contact email
Sponsor organisation
University of Birmingham
Duration of Study in the UK
3 years, 2 months, 29 days
Research summary
Cornelia de Lange syndrome (CdLS) and Fragile X syndrome (FXS) are rare genetic syndromes associated with intellectual disability. Alongside compromised cognitive functioning, individuals with CdLS and FXS experience social communication impairments, anxiety, and motor difficulties. To date, little is known about how these variables interact and influence the way in which individuals with CdLS and FXS experience their environment. There is also evidence to suggest these behaviours may manifest differently in each syndrome. Therefore, by comparing the behavioural profiles of each we are able understand in more detail what specific areas of difficulty individuals with FXS and CdLS may have.
This project will carry out a detailed investigation of cognitive ability, anxiety, and motor skills in individuals with FXS and CdLS. This project will also investigate similar issues in other intellectual disabled populations, in order to serve as a comparison to the CdLS and FXS groups, and to provide further understanding of the profile of cognition, anxiety, and motor skills experienced by these individuals.
This research will involve direct assessments with children and adults with CdLS, semi-structured interviews with parents or carers, and informant questionnaires.
The three core aims of the research project are:
•Conduct a detailed investigation of cognitive skills including language understanding, working memory, inhibition, and attention switching in individuals with CdLS and comparison groups.
•Conduct a detailed description of anxiety using a range of informant-based, behavioural and physiological assessments.
•Assess motor skills using a battery of tasks designed to assess fine and gross motor skills in individuals with CdLS and comparison groups.Using information gleaned from this project, we will be in a position to further understand cognition, anxiety, and motor skills in individuals with CdLS and comparison groups, and investigate ways in which these factors interact with one another. It is essential that these links are explored so as to better understand the causes and consequences of CdLS and the associated difficulties.
REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
16/WM/0435
Date of REC Opinion
22 Nov 2016
REC opinion
Further Information Favourable Opinion