UK ECHO Study on CNVs

The Department of Psychological Medicine & Neurology at Cardiff University, Wales, is conducting research into the experiences of children with 16p11.2 deletions and duplications, 1q21.1 deletions and other copy number variations (CNVs).

The aims of this study are to establish:

  • How frequent learning disability, behavioural problems and thought problems are in children with CNVs.
  • The relationships between learning disability, behavioural problems and thought problems in children with CNVs.

Participation will involve:

  • Assessment of the child’s symptoms via clinical interview with the parent.
  • Short interview with the child about how they experience themselves and others. 
  • Assessment of the child’s cognitive ability.  This involves completing a number of puzzles.
  • Blood or saliva sample from the parents and the child for DNA extraction 

Participation in this project is entirely voluntary.  Families will be reimbursed for their time. Participating families may request their clinician be provided with some of the information gathered in the study which may be helpful for treatment.

Your family may be eligible for the study if:

  • You have a child who is 6-17 years who has been diagnosed with16p11.2 Deletion or Duplication or 1q21.1 deletion
  • Or another CNV including: 3q29 Deletion, 15q11.2 Deletion, 15q13.3 Deletion, 16p13.1 Deletion or Duplication, 17p12 Deletion, and 22q11.2 Deletion
  • If your child has a sibling who does not have a CNV we would also ask them to take part.
  • Please note if you live outside the UK we could conduct the interview portion of the study with you via Skype.

 Information about this study is being provided to members of the Simons VIP Connect community as a service to our registered members. At this time the Simons Variation in Individuals Project is not engaged in this research project.

Further information can be found at: http://medicine.cf.ac.uk/psychological-medicine-neuroscience/areas-research/copy-number-variant-research/research-projects/

Dr. Marianne van den Bree is the principal investigator, Questions, please contact: This email address is being protected from spambots. You need JavaScript enabled to view it. or

Research Assistants:  Anna Pemberton (Tel: 029 206 87904)               Hayley Tierling (Tel: 029 206 87902)