WTCHGNewbury Group

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*NEWS* New Paper

We have just had a paper published in Developmental Medicine and Child Neurology describing the frequency of sex chromosome aneuploidies in children affected by SLI. It has been known for a long time that abnormalities of the sex chromosomes can lead to langauge difficulties. We investigated the frequency of sex chromsome aneuploidies across groups of children selected to have speech and language impairments. Although the absolute frequency of sex chromosome aneuploidies in these cohorts was low, it was at a much higher rate than expected in the general population. We therefore propose that it would be useful to introduce microarray or cytogenetic screening as standard for clinically referred cases of speech and lmaguage impairment to allow the early identification of such cases. The paper is open access and can be downloaded from the publications section below.

Research Overview

What is SLI?

 

Specific Language Impairment (SLI) is defined as a disorder in the development of language, despite adequate intelligence and opportunity and in the absence of any associated disorders that may underlie the language difficulties, such as hearing loss, autism or learning disability.

Children with SLI might have problems understanding (receptive) or using (expressive) language. The diagnostic guidelines for SLI can be found here.

It is estimated that SLI affects between 2 and 5% of pre-school children in the UK today, with approximately twice as many boys being affected as girls (the cause of this sex bias remains unknown). The language difficulties encountered by these children can have a major influence on their cognitive, emotional and social development. Whilst much is known as to the nature of the disability, little is known about its cause and neurological basis.  

 

Is SLI genetic?Chromosomes spread on a slide

 

Studies show that SLI runs in families - a brother or sister of someone who has already been diagnosed with SLI will have an increased risk of developing the disorder themselves. There are two possible situations which may explain this observation: (1) something in the family environment (i.e. something in the way in which children are brought up) causes SLI; or (2) SLI is genetic and is therefore caused by the genes passed on from parents to children.

We think that the second theory is the closer to the truth. We know that some things run in families but are not caused by genes. For example political preference and which football team you support. These things are affected by the experiences a child goes through and the way in which they are brought up. However, in the case of SLI we sometimes see that whilst one child in a family is affected his brother or sister is not, even though they were brought up in exactly the same way. In addition there seems to be no relationship between SLI and the level of language tuition given to a child or to the social or economic class of a family. This would seem to indicate that the environment alone cannot be causing language impairments.

One way in which we are able to distinguish between environmental and genetic effects is to look at twins. Identical twins come from a single egg and so have identical genes. Non identical twins come from two eggs and so share only half their genes. Therefore if genes are important in language development then identical twins should resemble each other more closely than non-identical twins with respect to language skills. Studies show that this is the case. In identical twin pairs, if one twin is affected with SLI then the other is about 90% likely to be affected. For non-identical twin pairs, if one twin is affected the other is only about 50% likely to also be affected.

What are our goals?

Although there is strong evidence for the role of a genetic component in SLI, we do not know which genes cause SLI or how the inheritance of language problems work. We think that SLI is probably a complex genetic disorder. This means that there are certain combinations of common, normal, genetic variantions which make some individuals particularly susceptible to language problems during language development. Working closely with other collaborators active in this field, we aim to identify specific genetic variants that cause this predisposition and to investigate the kinds of biological processes that they take part in.

Podcasts and Presentations

We have two podcasts discussing the research in our lab:

A general podcast (mp4).

And a scientific presentation of our research (from ICHG 2011, mp4 format).

We often give presentations at conferences or meetings. Details can be found on our presentations page.

Recent Publications

For a full list of publications, please see publications page

2013

Simpson NH, Addis L, Brandler WM, Slonims V, Clark A, Watson J, Scerri TS, Hennessy ER, Bolton PF, Conti-Ramsden G, Fairfax BP, Knight JC, Stein J, Talcott JB, O'Hare A, Baird G, Paracchini S, Fisher SE, Newbury DF, Consortium SLI (2013) Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Dev Med Child Neurol. 2013 Oct 9. PMID: 24117048 [pdf]

Nudel R, Newbury DF (2013) FOXP2. Wiley Interdisciplinary Reviews: Cognitive Science 2013, 4:547-560. [pdf]

Newbury DF, Mari F, Sadighi Akha E, MacDermot KD, Canitano R, Monaco AP, Taylor JC, Renieri A, Fisher SE and Knight SJL (2013) Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder Eur J Hum Genet 2013, 21:361-365. PMID: 22909776 [pdf]

2012

Scerri TS, Darki F, Newbury DF, Whitehouse AJ, Peyrard-Janvid M, Matsson H, Ang QW, Pennell CE, Ring S, Stein J, Morris AP, Monaco AP, Kere J, Talcott JB, Klingberg T, Paracchini S. The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure. PLoS One. 2012;7(11):e50321. PMID 23209710 [pdf]

Newbury DF (2012) The genetics of developmental disorders. In CR Marshall (Ed.), Current Issues in developmental disorders (pp.46-72). Psychology Press. September 2012. ISBN-10: 184872084X | ISBN-13: 978-1848720848

2011

Scerri TS, Morris AP, Buckingham LL, Newbury DF, Miller LL, Monaco AP, Bishop DV, Paracchini S (2011) DCDC2, KIAA0319 and CMIP Are Associated with Reading-Related Traits. Biol Psychiatry. 2011 70:237-245 PMID: 21457949 [pdf]

Villanueva P, Newbury DF, Jara L, De Barbieri Z, Mirza G, Palomino HM, Fernández MA, Cazier JB, Monaco AP, Palomino H. Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population. Eur J Hum Genet. 2011, 19:687-695. PMID: 21248734 [pdf]

Newbury DF, Paracchini S, Scerri TS, Winchester L, Addis L, Richardson AJ, Walter J, Stein JF, Talcott JB, Monaco AP (2011) Investigation of Dyslexia and SLI Risk Variants in Reading- and Language-Impaired Subjects. Behav Genet. 2011, 41:90-104. PMID: 21165691 [pdf]

2010

Newbury DF, Monaco AP. (2010) Genetic advances in the study of speech and language disorders. Neuron. 68(2):309-20. Review. PMID: 20955937 [pdf]

Addis L, Friederici AD, Kotz SA, Sabisch B, Barry J, Richter N, Ludwig AA, Rübsamen R, Albert FW, Pääbo S, Newbury DF, Monaco AP (2010) A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3. Genes Brain Behav. 9:545-561. PMID: 20345892 [pdf]

Newbury DF, Fisher SE, Monaco AP. Recent advances in the genetics of language impairment. Genome Med, 2(1):6. Review. PMID: 20193051 [pdf]

Wincent J, Bruno DL, van Bon BW, Bremer A, Stewart H, Bongers EM, Ockeloen CW, Willemsen MH, Keays DD, Baird G, Newbury DF, Kleefstra T, Marcelis C, Kini U, Stark Z, Savarirayan R, Sheffield LJ, Zuffardi O, Slater HR, de Vries BB, Knight SJ, Anderlid BM, Schoumans J. Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. Mol Syndromol. 2010;1(5):246-254. PMID: 22140377 [pdf]

Funding Sources

The SLI research project is funded by the Medical Research Council (MRC), the John Fell Fund and St John's College, Oxford.

Research Area

Neurogenetics.

Keywords

Specific Language Impairment (SLI), neurogenetics, developmental disorders.