Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling.

Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling.

Publication date: May 01, 2021

SHANK3 deficiency represents one of the most replicated monogenic risk factors for autism spectrum disorder (ASD) and SHANK3 caused ASD presents a unique opportunity to understand the underlying neuropathological mechanisms of ASD. In this study, genetic tests, comprehensive clinical and neurobehavioral evaluations, as well as multimodal structural MRI using voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS) were conducted in SHANK3 group (N = 14 with SHANK3 defects), ASD controls (N = 26 with idiopathic ASD without SHANK3 defects) and typically developing (TD) controls (N = 32). Phenotypically, we reported several new features in Chinese SHANK3 deficient children including anteverted nares, sensory stimulation seeking, dental abnormalities and hematological problems. In SHANK3 group, VBM revealed decreased grey matter volumes mainly in dorsal striatum, amygdala, hippocampus and parahippocampal gyrus; TBSS demonstrated decreased fractional anisotropy in multiple tracts involving projection, association and commissural fibers, including middle cerebral peduncle, corpus callosum, superior longitudinal fasciculus, corona radiata, external and internal capsule, and posterior thalamic radiation, etc. We report that the disrupted striatum centered brain structures are associated with SHANK3 deficient children. Study of subjects with monogenic cause offer specific insights into the neuroimaging studies of ASD. The discovery may support a path for future functional connectivity studies to allow for more in-depth understandings of the abnormal neural circuits and the underlying neuropathological mechanisms for ASD.

Concepts Keywords
Amygdala Imaging
Autism Radiation
Chinese Branches of biology
Genetic Neuroscience
Mri Psychiatric diagnosis
Neuropathological Autism
Shank3 Genes
SHANK3
Voxel-based morphometry
Striatum
Autism spectrum
VBM
22q13 deletion syndrome
Radiation
MRI
Genotype

Semantics

Type Source Name
disease MESH risk factors
disease MESH autism spectrum disorder
disease MESH defects

Original Article

Leave a Comment

Your email address will not be published. Required fields are marked *