Genetic Causes in Adults with Intellectual Disability - Pilot Study
Research type
Research Study
Full title
Genetic Causes in Adults with Intellectual Disability (GCAID) - Pilot Study
IRAS ID
261832
Contact name
Andrew Stanfield
Contact email
Sponsor organisation
University of Edinburgh
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
Recent advances in the understanding of genetics has led to a dramatic increase in studies involving the genetic testing of children with developmental delay and intellectual disability (ID). This is leading to greater understanding of the genetic causes of ID and associated conditions (e.g. autism spectrum disorders (ASD) and epilepsy). Linkage of this genetic information to symptom profiles is advancing the clinical understanding of the wider health problems associated with these genetic conditions and their prognosis.
We propose to extend these benefits to adults with moderate to profound ID as many of them have never been tested. Others have not been tested for some time and given recent improvements in the sensitivity of DNA analysis, may now benefit from further investigation. We also aim to
• gather preliminary data regarding the prevalence of genetic conditions in adults with moderate to profound ID
• gather preliminary data regarding the health, behavioural, communication and social presentations of genetic conditions identified
• explore attitudes towards the genetic testing process and its results (from participants, families/carers and also NHS and charity colleagues who will be approached to help with study recruitment)We hope to be able to give participants and their families an explanation for their condition. This may enable them to link in with relevant support groups and will facilitate better monitoring of or active screening for health conditions known to be associated with any identified genetic condition. In the future it is anticipated that identifying a specific genetic change will have direct utility when considering the best treatment options for the patient in question.
REC name
Scotland A: Adults with Incapacity only
REC reference
19/SS/0121
Date of REC Opinion
5 Dec 2019
REC opinion
Unfavourable Opinion