Our team encompasses a collection of multidisciplinary researchers at Cardiff University who aim to study the developmental pathways, health, behaviour, learning and thinking of children and adolescents who have copy number variants (CNVs). Parents frequently tell us there is not enough information available about what to expect when their children move from one developmental stage to the next. Ou
r research is aiming to help these families by collecting information and using this to share new insights with them as well as clinicians, other professionals and the wider community. 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. We are interested in assessing the behaviour and psychological and intellectual functioning of children, aged 6-18, who have been diagnosed with one of these CNVs. Typically an assessment involves a home visit with two members of our research team. A DNA sample is also taken from you and/or your children. We are supported by Maxappeal, 22Crew and Unique. Due to COVID-19, our assessments are currently taking place online instead of in families’ homes. Online meetings will take place with two members of our research team and the families, consisting of the same format of interviews and puzzles. Instructions and equipment for taking saliva samples is posted to the families.
