Cardiff University - ECHO Study

Cardiff University ECHOCardiff University's ECHO study has been learning about the experiences children with 22q11.2 deletion and duplication syndromes for the past five years. In addition to child volunteers, we are now also looking for adults with the 22q11.2 deletion or duplication to take part.
This will improve our understanding of experiences across the lifespan. Please click on the link and visit our website for more information, or contact Jacqui or Ali (adult study; Tel: 02920688317, email: or Sarah (child study; Tel: 02920688039, email: if you are interested in taking part.

and now you can find them on Facebook!
ECHO on Facebook Right Arrow

New research findings released from the ECHO study at Cardiff University June 2017 Right Arrow

Cardiff University ECHO Study ( Experiences of Children with c0py number variants).

Update September 2017

Researchers for the ECHO study are assessing children aged 6+ who have been diagnosed with 22q11.2 deletion or duplication syndrome. We visit families in their homes to carry out our research. This involves some interviews with a parent about their child, a short interview with the child as well as some puzzles and games. If your child has a sibling who does not have the genetic syndrome they are also encouraged to take part. This research is being conducted to gain an understanding about the relationships between learning, behavioural and thought problems in children with genetic deletions or duplications.

We offer participants the opportunity to take part in a brain imaging study which involves your family travelling to Cardiff University Brain Research Imaging Centre (CUBRIC) for brain scans. The purpose of the brain imaging aspect of the study is to learn more about how differences in brain structure and function might be related to symptoms of 22q11.2DS.

We also carry out research on adults who have been diagnosed with a genetic deletion or duplication syndrome. The research team are able to visit participants in their homes or at the university. The study involves similar assessments to the child study, and also neuroimaging at the new Cardiff University Brain Research Imaging Centre.

We also travel around the UK undertaking overnight 24-hour brain activity studies to look at sleep and brain activity during the day. This part of the ECHO Study involves us using electroencephalography (EEG) and some other measures, to look at children's brain activity whilst they sleep as well as during a period the following day. We hope to identify what both sleep and daytime activity looks like in the brains of children with 22q11.2DS.

You can take part in as many of the parts of the research as you wish. Participation is entirely voluntary. If you do participate we will reimburse you for your time or travel. All information received is strictly confidential. You are free to withdraw from the research at any stage.

If you are interested in taking part or would like some more information please contact the team by emailing or you can telephone:
Child study Sarah on 02920 688039 Adult study Jacqui/Alister on 02920 688317