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Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability.

Published version
Peer-reviewed

Type

Article

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Authors

Bathelt, Joe 
Barnes, Jessica 
Raymond, F Lucy 

Abstract

Childhood speech and language deficits are highly prevalent and are a common feature of neurodevelopmental disorders. However, it is difficult to investigate the underlying causal pathways because many diagnostic groups have a heterogeneous aetiology. Studying disorders with a shared genetic cause and shared cognitive deficits can provide crucial insight into the cellular mechanisms and neural systems that give rise to those impairments. The current study investigated structural brain differences of individuals with mutations in ZDHHC9, which is associated with a specific neurodevelopmental phenotype including prominent speech and language impairments and intellectual disability. We used multiple structural neuroimaging methods to characterise neuroanatomy in this group, and observed bilateral reductions in cortical thickness in areas surrounding the temporo-parietal junction, parietal lobule, and inferior frontal lobe, and decreased microstructural integrity of cortical, subcortical-cortical, and interhemispheric white matter projections. These findings are compared to reports for other genetic groups and genetically heterogeneous disorders with a similar presentation. Overlap in the neuroanatomical phenotype suggests a common pathway that particularly affects the development of temporo-parietal and inferior frontal areas, and their connections.

Description

Keywords

Cognitive development, Cortical morphology, Diffusion-weighted imaging, Human genetics, Language, Acyltransferases, Adolescent, Adult, Brain, Epilepsy, Humans, Intellectual Disability, Language Development Disorders, Language Disorders, Loss of Function Mutation, Magnetic Resonance Imaging, Male, Neural Pathways, White Matter, Young Adult

Journal Title

Neuroimage Clin

Conference Name

Journal ISSN

2213-1582
2213-1582

Volume Title

12

Publisher

Elsevier BV