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3 - Genetic Studies of Language Disorders

from Part One - Factors Influencing Language Development

Published online by Cambridge University Press:  11 August 2022

By
Hayley Mountford ,
Ruth Braden ,
Angela Morgan  and
Dianne Newbury
Edited by
James Law ,
Sheena Reilly  and
Cristina McKean
James Law
Affiliation:
University of Newcastle upon Tyne
Sheena Reilly
Affiliation:
Griffith University, Queensland
Cristina McKean
Affiliation:
University of Newcastle upon Tyne
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Summary

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.

Keywords

languagelanguage disordergeneticsgenespopulation geneticsphenotypeenvironmentchild
Type
Chapter
Information
Language Development
Individual Differences in a Social Context
 , pp. 45 - 77
Publisher: Cambridge University Press
Print publication year: 2022

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