Study title: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders (DiGEN)

About the study

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

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. You will also receive a report from our research team at the end of your participation, summarising our observations.

Eligibility criteria

  • You have a child aged between 7 and 17 who has a diagnosis of 16p11.2 deletion or duplication (on Break Points 4-5) or 22q11.2 deletion or duplication
  • You live in the UK (including Northern Ireland)
  • Siblings are also eligible to take part as long as they are also aged 7-17. Siblings do not need to have a diagnosis of 16p11.2 or 22q11.2 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. 
  • Your children will also complete some computerized puzzles and quizzes.
  • We will ask for a blood and/or saliva sample to help us to further understand the underlying causes of the possible difficulties children with 16p11.2 or 22q11.2 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 would like to take part, please email for more information or call a member of our research team on the mobile numbers below:

Jessica Hall         02920688329

Charlotte Butter   07392860082

Caitlin Goldie       07584106034