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New study reveals developmental difficulties caused by deletions and duplications of DNA

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The IMAGINE-ID project has shown, for the first time, that a very wide range of both inherited and non-inherited genetic changes responsible for learning difficulties commonly lead to severe behavioural and emotional problems in children. David Skuse, Professor of Behavioural and Brain Sciences at UCL

David Skuse Professor David Skuse

New research from the MRC and Medical Research Foundation-funded IMAGINE-ID project has revealed that deletions and duplications of DNA are responsible for wide-ranging developmental difficulties in children.

This new study, led by Cardiff University, looked at copy number variants (CNVs) in different locations within the genome and found that the developmental outcome for children was broadly the same, regardless of the different genome locations and regardless of whether the variants were deletions or duplications.

Comparisons across the different CNV groups indicated there were more similarities than differences in the range of difficulties the children experienced. In particular, the groups experienced similar levels of difficulties with peer relationships, sleep and mood.

The researchers recruited 258 children with CNVs as well as a comparison group of their siblings without these CNVs. 80% of the group with CNVs had at least one psychiatric disorder (14 times increased risk compared to siblings without these CNVs), including ADHD, oppositional defiant disorder (ODD), anxiety disorder and autism spectrum disorder (ASD). Behavioural difficulties were present at home as well as in school.

Professor David Skuse from UCL, one of IMAGINE-ID's Principal Investigators, added: “Although novel techniques of genetic analysis are increasingly identifying minor alterations in DNA in children with developmental delay, little is currently known about their implications for social and emotional adaptation. Families deserve to be told what the future holds for their child. They need to know how to manage behavioural and educational issues to avert poor outcomes.

“This new study, which is part of a collaborative programme of research between University College London, Cambridge, and Cardiff, is an important addition to existing research. It highlights the pressing need for greater awareness of the social, behavioural and emotional risks associated with minor genetic anomalies, and has implications for the medical and educational management of affected children.”

The IMAGINE-ID (Intellectual Disability & Mental Health: Assessing the Genomic Impact on Neurodevelopment) consortium, is a Medical Research Council and Medical Research Foundation funded collaboration between Cardiff, UCL and Cambridge Universities.

Read the full press release on Cardiff University’s website. The full research paper is available here.