Altered Structural Brain Connectivity Involving the Dorsal and Ventral Language Pathways in 16p11.2 Deletion Syndrome

Overview

Journal Brain Imaging Behav

Publisher Springer

Specialties Neurology
Psychology
Radiology
Social Sciences

Date 2018 Apr 10

PMID 29629500

Citations 10

Authors

Banu Ahtam

Naira Link

Erikson Hoff

P Ellen Grant

Kiho Im

Affiliations

Soon will be listed here.

Abstract

Copy number variants at the chromosomal locus 16p11.2 contribute to neurodevelopmental disorders such as autism spectrum disorders, epilepsy, schizophrenia, and language and articulation disorders. Here, we provide detailed findings on the disrupted structural brain connectivity in 16p11.2 deletion syndrome (patients: N = 21, age range: 8-16 years; typically developing (TD) controls: 18, 9-16 years) using structural and diffusion MRI. We performed global short-, middle-, long-range, and interhemispheric connectivity analysis in the whole brain using gyral topology-based cortical parcellation. Using region of interest analysis, we studied bilateral dorsal (3 segments of arcuate fasciculus (AF)) and ventral (inferior fronto-occipital fasciculus (IFOF), inferior longitudinal fasciculus (ILF), uncinate fasciculus (UF)) language pathways. Our results showed significantly increased axial (AD) and radial (RD) diffusivities in bilateral anterior AF, decreased volume for left long AF, increased mean diffusivity (MD) and RD for right long AF, and increased AD for bilateral UF in the 16p11.2 deletion group in the absence of significant abnormalities in the whole-brain gyral and interhemispheric connectivity. The selective involvement of the language networks may aid in understanding effects of altered white matter connectivity on neurodevelopmental outcomes in 16p11.2 deletion.

Citing Articles

Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.

Verbesselt J, Breckpot J, Zink I, Swillen A J Speech Lang Hear Res. 2024; 67(11):4487-4503.

PMID: 39418585 PMC: 11567083. DOI: 10.1044/2024_JSLHR-24-00257.

The pleiotropic spectrum of proximal 16p11.2 CNVs.

Auwerx C, Kutalik Z, Reymond A Am J Hum Genet. 2024; 111(11):2309-2346.

PMID: 39332410 PMC: 11568765. DOI: 10.1016/j.ajhg.2024.08.015.

Impulsive and compulsive reading comprehension in the prison population.

Munoz-Lopez L, Serrano F, Lopez-Torrecillas M, Sanchez-Barrera M, Martin I, Lopez-Torrecillas F BMC Psychiatry. 2024; 24(1):45.

PMID: 38216979 PMC: 10785498. DOI: 10.1186/s12888-023-05372-w.

Negative versus withdrawn maternal behavior: Differential associations with infant gray and white matter during the first 2 years of life.

Lyons-Ruth K, Ahtam B, Li F, Dickerman S, Khoury J, Sisitsky M Hum Brain Mapp. 2023; 44(12):4572-4589.

PMID: 37417795 PMC: 10365238. DOI: 10.1002/hbm.26401.

16p11.2 deletion mice exhibit compromised fronto-temporal connectivity, GABAergic dysfunction, and enhanced attentional ability.

Openshaw R, Thomson D, Bristow G, Mitchell E, Pratt J, Morris B Commun Biol. 2023; 6(1):557.

PMID: 37225770 PMC: 10209099. DOI: 10.1038/s42003-023-04891-2.

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