This research was completed on
Research Training Fellowship*: Dr Ngoh
Children with a rare brain condition called Landau Kleffner syndrome (LKS) – which is estimated to affect up to one in every 300,000 children – may one day benefit from research by Dr Adeline Ngoh of University College London’s Institute of Child Health.1 When they’re between three and nine years old, children with this condition lose the ability to talk and understand speech, which can have devastating consequences. Many also experience seizures. Dr Ngoh is investigating what causes LKS. She hopes to give children and their families a better understanding of why they’ve been affected. Ultimately, her work may also lead to the development of new treatments.
How are children’s lives affected now?
“Children with LKS develop normally for the first few years of life, but then lose their ability to understand speech and to speak meaningfully,” says Dr Ngoh. “Many children also start to have seizures.”
“Children with LKS no longer understand what is being said to them, and other people can’t understand what the children are trying to say, as their speech does not make sense,” continues Dr Ngoh. “Even everyday sounds such as a telephone ringing may lose their meaning.”
“Sadly, children with LKS can lose confidence and become frustrated or withdrawn,” says Dr Ngoh. “Many develop behavioural problems, and some develop symptoms within the autistic spectrum. Children’s education and social interactions can be severely affected.”
“Despite the disability that LKS causes, not much is known about the condition”, says Dr Ngoh. “Unfortunately, families often have to live with many unanswered questions, there’s a lack of treatment options and long-term disability is common.”
How could this research help?
“I’m investigating the genetic causes of LKS,” says Dr Ngoh. Little is known about this at the moment.
“At Great Ormond Street hospital, we have treated over 70 children with LKS,” says Dr Ngoh. “We plan to find out how many of our patients have changes, or mutations, in a gene called GRIN2A, which has already been linked to the condition in a minority of cases.2 We are also looking for other genetic changes that might be linked to the condition. Identifying disease-causing genes would provide families with definitive answers when they ask ‘Why has our child developed LKS?’ and ‘What are our chances of having more children with the condition?’”
“We are also investigating how changes in the GRIN2A gene – and any other genes we identify – might lead to children’s symptoms,” says Dr Ngoh. “Improving our understanding of the disease processes involved may one day lead to the development of better treatments.”
1. Kaga M, et al. Epidemiological study of Landau Kleffner syndrome (LKS) in Japan. Brain Dev 2014; 36(4): 284-6.
2. Carvill GL et al. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet. 2013; 45:1061-6. doi: 10.1038/ng.2726. Epub 2013 Aug 11.
*Research Training Fellowships:
Each year, Action Medical Research awards these prestigious grants to help the brightest and best doctors and scientists develop their career in medical research.
|Project Leader||Dr SF Adeline Ngoh MBBS MRCPCH|
|Project Team||Dr Manju A Kurian MBBChir MRCPCH PhDProfessor Dimitri M Kullmann BA(Hons) DPhil MBBS FRCP MRCPProfessor Robert J Harvey BSc (Hons) PhD|
|Project Location||Developmental Neurosciences, University College London, Institute of Child Health|
|Project Location Other||Clinical and Experimental Epilepsy, Institute of Neurology, University College LondonDepartment of Pharmacology, School of Pharmacy, University College London|
|Project duration||2 years|
|Date awarded||9 February 2015|
|Project start date||2 March 2016|
|Project end date||1 April 2018|