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Developmental language disorder: understanding the genes involved to help improve children’s lives

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In the UK, developmental language disorder (DLD) affects around seven in every 100 preschool children.1 Sadly, a child’s health, educational attainment, personal development as well as longer-term opportunities can all be affected. Dr Silvia Paracchini at the University of St Andrews in Scotland aims to understand more about the genes involved in DLD to improve diagnosis and treatment so that children can live better lives.

This grant is a jointly funded award from Action Medical Research and The Chief Scientist Office (CSO), Scotland.

How are children’s lives affected now?

A child with DLD finds it difficult to talk and to understand spoken language. With communication so fundamental to our everyday lives, this can have long-term effects on their health and behaviour – as well as social and educational development.

While education and speech therapy interventions can be helpful, there are limits to what they can achieve.

“Despite the considerable impact of DLD on children and their families, we currently have a poor understanding of its causes – and this is holding us back from further improvements,” says Dr Paracchini. “But what we do know is genetics plays a big role – so we really need to increase our understanding in this area.”

How could this research help?

“We want to identify and understand more about the genes involved in DLD, which we hope will lead to better ways to diagnose and treat it – meaning better lives for children and their families,” says Dr Paracchini.

The team have already identified tiny changes in one gene, known as ATP2C2, which appear to be linked with the development of DLD.

Now, they will closely examine the role of ATP2C2 in the developing brain and also investigate the importance of a specific change within it in the development of language disorders. They will also use cutting-edge technologies to identify new genes that could also be involved.

“We hope our results will one day lead to new tests that can diagnose DLD earlier so children get help sooner, or help to identify groups who may benefit from specific interventions, says Dr Paracchini. “And they could also open up avenues for the development of potential new treatments.”


1. I CAN Talk Series - Issue 2. The cost to the nation of children’s poor communication.





Project Leader Dr Silvia Paracchini, DPhil
Project Team Dr Sam J Pitt, PhD
Project Location School of Medicine, University of St Andrews, Scotland
Project duration 3 years
Date awarded 20 July 2017
Project start date 1 November 2017
Project end date 31 July 2021
Grant amount £195,500
Grant code GN2614


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