Review Cardiff University ECHO Study In cardiff, wales, united-kingdom | Ngo In Cardiff

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Cardiff University ECHO Study

Cardiff,

Wales,United-kingdom - CF244HQ

029 206 88354 or 029 2068 8352

Detailed description is The ECHO Study is a multidisciplinary research team investigating the experiences of individuals with chromosomal conditions/copy number variants (CNVs).
The ECHO Study encompasses a collection of multidisciplinary researchers which aim to study experiences of people with copy number variants (CNVs).
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We are researchers at Cardiff University.
Our study aims to better understand the developmental pathways of people with Copy Number Variations (CNVs).
We are particularly interested in hearing from people with these CNVs: 1q21.1 deletion and duplication, 2p16.3 exonic deletion, 3q29 deletion, 7q11.23 duplication, 9q34.3 deletion (Kleefstra Syndrome), 15q11.2 deletion, 15q11-13 duplication, 15q13.3 deletion and duplication, 16p11.2 duplication, 16p11.2 distal deletion, 16p13.11 duplication, and 17q12 deletion & duplication, and 22q11.2 deletion and duplication syndrome..
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We are supported by Maxappeal , 22Crew and Unique ..
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We are interested in assessing the behaviour and psychological and intellectual functioning of children and adults who have been diagnosed with these syndromes who are aged over 6 years of age..
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Two people from our ECHO study team visit families at their own home at a time most convenient to them..
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For the children if there is a brother or sister in your family, who does not have the deletion or duplication, we would ask them to take part.
We are particularly interested in siblings who are close in age to the child/ren with the deletion/duplication.
However, families who do not have a sibling without these deletions or duplications can still take part..
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When we meet we will complete interviews about you/your child/ren and they will be asked to complete a number of puzzles that assess cognitive ability.
We also do a short interview about how you/they experience yourself/themselves and others.
If a sibling takes part we will ask them similar questions and they also do the same puzzles..
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A blood sample will be taken from you and/or your children.
For those who do not wish to have a blood test, we can take a spit sample.
The genetic material (DNA) will be extracted from the samples in a laboratory in the University..
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Participation in this project is entirely voluntary.
If you participate you will be reimbursed for your time.
All information we receive from you will be treated as strictly confidential and you are free to withdraw from the research at any stage..
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Ethics approval:.
Our study was given a favourable ethical opinion for conduct in the NHS by the relevant Ethics Committee..
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Make a donation:.
The ECHO study aims to gain better understanding of the health, behaviour and learning/ thinking of children and adolescents with rare chromosomal disorders.
Parents frequently tell us there isn’t enough information available about what to expect when their children move from one developmental stage to the next..
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We have a dedicated team who visits families in their own homes (or conducts skype interviews with families outside the UK).
Your donations would contribute towards these visits..
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Thus, we can visit more families and sooner collect the information we need.
We can then share our new insights with families, clinicians, other professionals and the wider community.


Established in the recent years Cardiff University ECHO Study in cardiff , wales in united-kingdom.


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