Max Appeal BearMax Appeal
www.maxappeal.org.uk


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

Early Development Study

New - Study - Early Development of Children with Genetic Conditions

Cardiff University ECHOResearch Opportunity: Can you help?

'Early Development of Children with Genetic Conditions' is a research study that aims to increase understanding of the very early years of children with genetic conditions. The team is very keen to learn more about the link between behaviour and rare chromosome conditions. The study is led by Dr Samuel Chawner from Cardiff University.

To participate your child should be aged between 2 and 4 and have a diagnosis of 22q11.2 deletion or duplication syndrome. Taking part involves travelling to Cardiff University for assessments of development and visual ability, filling out questionnaires about you and your child. We will also ask your child to provide a saliva sample, and yourself a blood or saliva sample so we can extract DNA. If there is a sibling without a genetic condition we would also like to invite them to take part in the same assessments and to provide a saliva sample. We will provide support in arranging travel and reimburse travel costs. After completing the developmental assessments in Cardiff, you will receive a personalised summary report which you may find useful.

If you are interested and want to find out more about the study please you can contact the team and request our study information pack by telephone on +44 (0)2920 688356 or email echo@cardiff.ac.uk or ChawnerSJ@cardiff.ac.uk. Once you have received the information pack you can decide whether you and your child would like to participate. The team are very happy to answer any questions you have.


www.cardiff.ac.uk/news-pages/view/1011376-cognitive-development-in-children-with-22q Right Arrow

Jan 2018


Source: maxappeal.org.uk/research/early_development_study

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