Experiences of children with copy number variations
What are copy number variations (or CNVs)?
The genetic material of every individual can be different from other individuals, even if they are family members. When, compared to others, some people may have extra sections of genetic material, or fewer sections of genetic material. This is called copy number variation (CNV). A CNV can be either a duplication (where an individual has more of the genetic material than most other people) or a deletion (where they have less than most other people).
Children with copy number variations (CNVs) can experience learning difficulties. They may also experience behavioural problems at home and in school and may find it more difficult to make friends. Sometimes, their thinking and speech may be difficult to follow or may seem unusual to others. It is not clear at the moment to what extent children with different types of CNVs are at risk for these problems. Researchers also don’t know to what extent CNVs play a role in the behavioural and thought problems some children can experience. It is possible that the learning difficulties these children can have contribute to their risk of behavioural and thought problems. However, if and to what extent they do is not understood.
The purpose of this study is to try and understand about the relations between learning, behavioural and thought problems in children with genetic deletions or duplications may lead to more effective methods of treatment and prevention, thus improving the lives of children and families affected by these disorders.
The broad aims of this study are to establish:
- The frequency of the presence of learning disability, behavioural problems and thought problems in children with CNVs.
- The relationships between learning disability, behavioural problems and thought problems in children with CNVs.
If you would like more information then please contact the Genetics Research Nurse on 0151 802 5026 / 07741 271622 or email firstname.lastname@example.org