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What did the project achieve?
“This project has advanced our biological understanding of an important gene linked with developmental language disorder (DLD),” says Dr Silvia Paracchini at the University of St Andrews. “We hope this knowledge will one day lead to better ways to diagnose and treat the condition – improving the lives of children and their families.”
Around one million children in the UK – or two children in every average class of 30 – have long-term difficulties with talking and understanding words called developmental language disorder (DLD).1 Sadly, their health, educational attainment, personal development and longer-term opportunities can all be negatively affected.
While the causes of DLD are poorly understood, it is known that genetics play a big role. Identifying the genes involved and understanding how they work – particularly within nerve cells in the developing brain – might uncover new clues about the origins of the condition.
Professor Paracchini had previously identified a tiny change in one gene, known as ATP2C2, which appears to increase the risk of developing DLD – as well as poor performance on language-related tasks in the general population. In this project, she carried out experiments to study the importance of this specific change within this gene in cells grown in laboratory dishes – and also used cutting-edge technologies to identify new genes that might be involved in the development of language disorders.
“Our preliminary results suggest that this change disrupts the normal function of the ATP2C2 gene in cells,” says Dr Paracchini. “We have also generated genetic data for a larger cohort of children with language disorders, which are currently being analysed as part of a large international project.”
A major legacy of this project is the establishment of the Specific Learning Disorders Network (SLDN), which aims to better coordinate research into these conditions across the UK. A key part of this initiative is engaging with the key stakeholders to understand the key priorities for families, educators and health professionals in this area.
“The results of this project funded by Action fed directly into this idea, as I wanted to make our work more accessible and relevant to the people with lived experiences of these conditions,” explains Professor Paracchini.
References
- UK Parliament. Speech and Language UK – Written evidence (EDU0036): https://committees.parliament.uk/writtenevidence/120767/pdf/
This research was completed on
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.”
References
1. I CAN Talk Series - Issue 2. The cost to the nation of children’s poor communication. http://www.ican.org.uk/
| 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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