Abnormal auditory and language pathways in children with 16p11.2 deletion.

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TitleAbnormal auditory and language pathways in children with 16p11.2 deletion.
Publication TypeJournal Article
Year of Publication2015
AuthorsBerman, JI, Chudnovskaya, D, Blaskey, L, Kuschner, E, Mukherjee, P, Buckner, R, Nagarajan, S, Chung, WK, Spiro, JE, Sherr, EH, Roberts, TPL
JournalNeuroimage Clin
Date Published2015
KeywordsAdolescent, Auditory Pathways, Autistic Disorder, Brain, Child, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 16, Diffusion Magnetic Resonance Imaging, Female, Humans, Intellectual Disability, Language, Male, White Matter

Copy number variations at chromosome 16p11.2 contribute to neurodevelopmental disorders, including autism spectrum disorder (ASD). This study seeks to improve our understanding of the biological basis of behavioral phenotypes common in ASD, in particular the prominent and prevalent disruption of spoken language seen in children with the 16p11.2 BP4-BP5 deletion. We examined the auditory and language white matter pathways with diffusion MRI in a cohort of 36 pediatric deletion carriers and 45 age-matched controls. Diffusion MR tractography of the auditory radiations and the arcuate fasciculus was performed to generate tract specific measures of white matter microstructure. In both tracts, deletion carriers exhibited significantly higher diffusivity than that of controls. Cross-sectional diffusion parameters in these tracts changed with age with no group difference in the rate of maturation. Within deletion carriers, the left-hemisphere arcuate fasciculus mean and radial diffusivities were significantly negatively correlated with clinical language ability, but not non-verbal cognitive ability. Diffusion metrics in the right-hemisphere arcuate fasciculus were not predictive of language ability. These results provide insight into the link between the 16p11.2 deletion, abnormal auditory and language pathway structures, and the specific behavioral deficits that may contribute to neurodevelopmental disorders such as ASD.

Alternate JournalNeuroimage Clin
PubMed ID26413471
PubMed Central IDPMC4543079
Grant ListK01 MH096091 / MH / NIMH NIH HHS / United States
U54 HD086984 / HD / NICHD NIH HHS / United States
K01MH096091 / MH / NIMH NIH HHS / United States
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