How our understanding of a unique genetic mutation could help to explain speech disorders in children

Tuesday, 25 April 2017

genetic mutation speech disorders

Disorders of speech and language are a common childhood problem and a core feature of many neurodevelopmental disorders.

UNICEF, UNESCO and the World Health Organisation include communication in their core life skills and, in the UK, communication, language and literacy form one of the six target areas of Early Years education.

For many, the ability to learn a language in infancy is considered an inherent skill and a basic stage of development. But the complex process of understanding and using language to communicate is all too often taken for granted.

Around five to 10 per cent of the population are affected by speech and language disorders in childhood and for those affected; this can often have a wider impact on the rest of their lives.

Factors such as poor educational attainment at school and a poor development of essential key skills can go on to have repercussions in later life that hinder various aspects of a person’s social and professional lives and increase the risk of mental health issues.

This research might inform us about what that protein or other proteins do to help memory processes. It may shed light on why some children have difficulties with speech and language.

Dr Dianne Newbury, Oxford Brookes University

Despite this, we still do not know why some children have language difficulties. There is little consensus as to the best way to classify and treat them and research into genetic risk factors is under-represented.

Research by Dr Dianne Newbury, Senior Lecturer in the Department of Biological and Medical Sciences at Oxford Brookes, is focussed on the identification of such genetic risk factors.

A recipient of the University’s Research Excellence Awards, Dr Newbury is developing a fascinating research project involving a Serbian family with an unusual ability to voluntarily speak backwards.

The ability to speak backwards stems from a superior ability to manipulate speech sounds (phonemes) and relies heavily upon verbal working memory processes, which are important in learning new vocabulary. Deficits in phonological processing and working memory are associated with speech, language and reading disorders. The study of this family may therefore inform our understanding of working memory processes, language acquisition and speech and language disorders.

In the family, the ability to speak backwards was apparently passed from father to daughter indicating that the trait may be genetically influenced.

Work with Professor Isabel Bermudez-Diaz, who also works in the Department of Biological and Medical Sciences, has provided preliminary evidence that one of the candidate genes, RIC3, may be important in backwards speech.

Research Excellence Awards 2016

This intriguing finding supports the role of the mutation in backwards speech and opens up questions regarding the function of RIC3 modulated pathways in speech and language mechanisms. Dr Newbury and Professor Bermudez-Diaz’s research is investigating what the mutation found does to the protein produced.

The research has been selected for a talk at the upcoming Nicotinic Acetylcholine Receptors 2017 meeting taking place on 5-7 May in Greece.

Dr Newbury commented: “This research might inform us about what that protein or other proteins do to help memory processes. It may shed light on why some children have difficulties with speech and language. Then we’d like to look at the genes in families affected by speech and language difficulties. We will assess if the genes within these cohorts have a particular genetic signature that is more common than expected.”

Research from Dr Newbury on the ability to speak backwards could therefore significantly move forward our understanding of speech and language disorders.