Study title: The impact of copy number variants on cortical network dynamics

About our study

We are a research team based in Cardiff University and we are interested in the experiences of children with 16p11.2 duplication, 22q11.2 deletion and 1q21.1 deletion.

This study will enable us to learn more about the development of children with these deletions and duplications, which will help us better support families receiving this diagnosis in the future.

If you do decide to take part we will reimburse your travel costs to our clinic, and your family will be given a £30 shopping voucher as a thank you.

Eligibility criteria

  • You have a child aged between 10 and 25 who has a diagnosis of 16p11.2 duplication, 22q11.2 deletion or 1q21.1 deletion.
  • You live in the UK (including Northern Ireland).
  • Siblings are also eligible to take part as long as they are also aged 10-25. Siblings do not need to have a diagnosis of 16p11.2, 22q11.2, 1q21.1 deletion or duplication. If there is no sibling who can take part, your family can still participate in the study.

      What is involved with taking part?

  • We will ask the parent to complete an online questionnaire about the child(ren)
  • We will also do an interview with the parent about each child. This will allow us to gather in depth knowledge about your children’s developmental history and their current behaviour, strengths and difficulties. 
  • We will ask you to come to Cardiff for your children to have some brain scans.
  • In Cardiff, your children will complete some computerized puzzles and quizzes.
  • Your children will also complete some balance and ball games to learn about their motor development.
  • We will ask for a blood and/or saliva sample to help us further understand the underlying causes of the possible difficulties children with 16p11.2, 22q11.2, 1q21.1 deletion or duplication can experience.

How to take part

Participation in this project is entirely voluntary. All information received from you will be treated as strictly confidential and you are free to withdraw from the research at any stage.

If you are interested in taking part or would like any further information, please contact Hannah via email- or telephone- 02920 688757.

Note. This study is not being run by Unique. Please address any queries to the research team.