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

Autor: Emily S. Kuschner, Elliott H. Sherr, Randall Buckner, Jeffrey I. Berman, Darina Chudnovskaya, Wendy K. Chung, Srikantan S. Nagarajan, John E. Spiro, Timothy P.L. Roberts, Lisa Blaskey, Pratik Mukherjee
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Male
Auditory Pathways
Autism
Chromosome Disorders
16p11.2 deletion
lcsh:RC346-429
0302 clinical medicine
Arcuate fasciculus
FA
fractional anisotropy

Child
Language
Diffusion MR
0303 health sciences
Brain
Regular Article
Cognition
White Matter
RD
radial diffusivity

medicine.anatomical_structure
Neurology
Autism spectrum disorder
Auditory system
lcsh:R858-859.7
Female
Chromosome Deletion
Psychology
AD
axial diffusivity

ASD
autism spectrum disorder

Adolescent
CNV
copy number variation

Cognitive Neuroscience
GFA
generalized fractional anisotropy

lcsh:Computer applications to medicine. Medical informatics
White matter
03 medical and health sciences
Intellectual Disability
medicine
Humans
Radiology
Nuclear Medicine and imaging

Autistic Disorder
CELF
clinical evaluation of language fundamentals

lcsh:Neurology. Diseases of the nervous system
030304 developmental biology
MD
mean diffusivity

HARDI
high angular resolution diffusion imaging

medicine.disease
Diffusion Magnetic Resonance Imaging
DTI
diffusion tensor imaging

Neurology (clinical)
Neuroscience
Chromosomes
Human
Pair 16

030217 neurology & neurosurgery
Diffusion MRI
Spoken language
Zdroj: Sherr, Elliott; Mukherjee, Pratik; Berman, JI; Chudnovskaya, D; Blaskey, L; Kuschner, E; et al.(2015). Abnormal auditory and language pathways in children with 16p11.2 deletion. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/44p5t5dn
NeuroImage: Clinical, Vol 9, Iss C, Pp 50-57 (2015)
NeuroImage : Clinical
Popis: 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.
Highlights • We examined auditory and language white matter tracts in children with the 16p11.2 BP4–BP5 deletion. • Diffusivity was enhanced in auditory radiation and arcuate fasciculus. • Arcuate fasciculus microstructure was correlated with language ability in deletion carriers. • There are correlations in the brain structure and behavioral phenotype in the 16p11.2 deletion carriers.
Databáze: OpenAIRE