Book Chapter

Genetic studies of language disorders


Developmental language disorder (DLD) is estimated to affect 8 per cent of primary school-aged children, and has lasting impacts on academic achievement and social-emotional and behavioural outcomes. DLD is classified as a severe and persistent impairment in the acquisition, understanding, production or use of language, occurring in the absence of comorbid neurodevelopmental disorder. The phenotype of DLD is well established, yet there is relatively limited understanding of its aetiology. A complex interaction of genetic variants and environmental factors is thought to be the cause. To date, linkage and association analyses have implicated a handful of genes in DLD populations, including CMIP and ATP2C2. While many of these variants are common in DLD, they are not consistently associated with severe language impairment, and many overlap with chromosome regions commonly associated with neurodevelopmental disorders such as intellectual disability. The effects of alternate genetic models such as copy number and rare variants may provide a gateway to understanding the complex genetic pathways of this disorder. Pleiotropy and generalisation are also important considerations in understanding the genetic architecture of DLD. Here we outline the phenotype of DLD and provide an overview of recently identified gene pathways implicated in this disorder.

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Mountford, Hayley
Braden, Ruth
Morgan, Angela
Newbury, Dianne

Oxford Brookes departments

Department of Biological and Medical Sciences


Year of publication: 2022
Date of RADAR deposit: 2023-06-15

All rights reserved. “This material has been published in Language Development Individual Differences in a Social Context /edited by James Law, Sheena Reilly, and Cristina McKean []. This version is free to view and download for private research and study only. Not for re-distribution or re-use.”

Related resources

This RADAR resource is the Accepted Manuscript of Genetic Studies of Language Disorders
This RADAR resource is Part of Language development: Individual differences in a social context [ISBN: 9781108494090] /edited by James Law, Sheena Reilly, and Cristina McKean (Cambridge University Press, 2022). (ISBN: 9781108494090)


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