The Genetic and Molecular Basis of Developmental Language Disorder: A Review

Language disorders are highly heritable and are influenced by complex interactions between genetic and environmental factors. Despite more than twenty years of research, we still lack critical understanding of the biological underpinnings of language. This review provides an overview of the genetic...

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Main Authors: Hayley S. Mountford, Ruth Braden, Dianne F. Newbury, Angela T. Morgan
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Children
Subjects:
Online Access:https://www.mdpi.com/2227-9067/9/5/586
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author Hayley S. Mountford
Ruth Braden
Dianne F. Newbury
Angela T. Morgan
author_facet Hayley S. Mountford
Ruth Braden
Dianne F. Newbury
Angela T. Morgan
author_sort Hayley S. Mountford
collection DOAJ
description Language disorders are highly heritable and are influenced by complex interactions between genetic and environmental factors. Despite more than twenty years of research, we still lack critical understanding of the biological underpinnings of language. This review provides an overview of the genetic landscape of developmental language disorders (DLD), with an emphasis on the importance of defining the specific features (the phenotype) of DLD to inform gene discovery. We review the specific phenotype of DLD in the genetic literature, and the influence of historic variation in diagnostic inclusion criteria on researchers’ ability to compare and replicate genotype–phenotype studies. This review provides an overview of the recently identified gene pathways in populations with DLD and explores current state-of-the-art approaches to genetic analysis based on the hypothesised architecture of DLD. We will show how recent global efforts to unify diagnostic criteria have vastly increased sample size and allow for large multi-cohort metanalyses, leading the identification of a growing number of contributory loci. We emphasise the important role of estimating the genetic architecture of DLD to decipher underlying genetic associations. Finally, we explore the potential for epigenetics and environmental interactions to further unravel the biological basis of language disorders.
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spelling doaj.art-e9289380843a411998383b322f6d3b8e2023-11-23T10:29:28ZengMDPI AGChildren2227-90672022-04-019558610.3390/children9050586The Genetic and Molecular Basis of Developmental Language Disorder: A ReviewHayley S. Mountford0Ruth Braden1Dianne F. Newbury2Angela T. Morgan3Department of Biological and Medical Sciences, Oxford Brookes University, Oxford OX3 0BP, UKMurdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne 3052, AustraliaDepartment of Biological and Medical Sciences, Oxford Brookes University, Oxford OX3 0BP, UKMurdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne 3052, AustraliaLanguage disorders are highly heritable and are influenced by complex interactions between genetic and environmental factors. Despite more than twenty years of research, we still lack critical understanding of the biological underpinnings of language. This review provides an overview of the genetic landscape of developmental language disorders (DLD), with an emphasis on the importance of defining the specific features (the phenotype) of DLD to inform gene discovery. We review the specific phenotype of DLD in the genetic literature, and the influence of historic variation in diagnostic inclusion criteria on researchers’ ability to compare and replicate genotype–phenotype studies. This review provides an overview of the recently identified gene pathways in populations with DLD and explores current state-of-the-art approaches to genetic analysis based on the hypothesised architecture of DLD. We will show how recent global efforts to unify diagnostic criteria have vastly increased sample size and allow for large multi-cohort metanalyses, leading the identification of a growing number of contributory loci. We emphasise the important role of estimating the genetic architecture of DLD to decipher underlying genetic associations. Finally, we explore the potential for epigenetics and environmental interactions to further unravel the biological basis of language disorders.https://www.mdpi.com/2227-9067/9/5/586language disorderapraxia of speechCASDLDgeneticsspecific language impairment
spellingShingle Hayley S. Mountford
Ruth Braden
Dianne F. Newbury
Angela T. Morgan
The Genetic and Molecular Basis of Developmental Language Disorder: A Review
Children
language disorder
apraxia of speech
CAS
DLD
genetics
specific language impairment
title The Genetic and Molecular Basis of Developmental Language Disorder: A Review
title_full The Genetic and Molecular Basis of Developmental Language Disorder: A Review
title_fullStr The Genetic and Molecular Basis of Developmental Language Disorder: A Review
title_full_unstemmed The Genetic and Molecular Basis of Developmental Language Disorder: A Review
title_short The Genetic and Molecular Basis of Developmental Language Disorder: A Review
title_sort genetic and molecular basis of developmental language disorder a review
topic language disorder
apraxia of speech
CAS
DLD
genetics
specific language impairment
url https://www.mdpi.com/2227-9067/9/5/586
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