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Supporting families affected by DiGeorge Syndrome, VCFS and 22q11.2 deletion

ECHO Study - Motor Disturbances

ECHO Study - Motor Disturbances

Can you help us?

The Experiences of Children with cOpy number variants (ECHO) study at Cardiff University is carrying out research in children between 6-17 years old who have been diagnosed with 22q11.2 Deletion Syndrome, or 22q11.2 Duplication. We are interested in their behaviour, psychological and intellectual functioning, along with motor coordination and daily functioning.

The study has 3 parts:

1. The main study involves our research team visiting you at home at a convenient time and includes:
The researcher completing interviews with you about your child
Your child doing some puzzles and games that asses their thinking, and a short interview about themselves
We would like to take a blood or saliva sample from you and your children to look at genes involved in the deletion and duplication syndromes
If your child has a sibling without the deletion or duplication they will also be asked to take part

2. Second, we run a neuroimaging study looking at brain structure and function in 22q11.2 Deletion Syndrome and Duplication children who are older than 12. This includes:
Your children having an MRI and MEG (magnetoencephalography) scan at Cardiff University
The MRI scan involves lying in the scanner for an hour.
The MEG scan involves sitting in a seat with a large helmet for around an hour, with a few tasks to do.

3. Finally, we are also looking at hand eye coordination in 22q11.2 Deletion Syndrome, this involves:
Completing a short questionnaire to asses eligibility for the assessments
Coming to the University for your child to complete some coordination puzzles and games assessing things like balance, ball skills and fine motor skills
A short interview to find out the sorts of things that your child might find difficult in daily life, like dressing, schoolwork or play.

We also carry out research on adults with the deletion or duplication, which involves similar home visits and neuroimaging please get in touch for more information about this research.

You can take part in as many of the parts of the research as you wish, but we would like everyone who takes part to be visited at home. 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 in any of our research, please contact us at echo@cardiff.ac.uk, or telephone Adam on 02920 688 402, Hayley on 029 206 88 354, or Holly on 029 206 88405.

ECHO Study
Division of Psychological Medicine and Clinical Neurosciences
MRC Centre for Neuropsychiatric Genetics & Genomics
Second Floor, Hadyn Ellis Building
Maindy Road
CARDIFF CF24 4HQ

Source: maxappeal.org.uk/research/echo_study_-_motor_disturbances

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