Autism spectrum disorders (ASD) represent a formidable challenge for
psychiatry and neuroscience because of their high prevalence, life-long nature,
complexity and substantial heterogeneity. Facing these obstacles requires
large-scale multidisciplinary efforts. While the field of genetics has pioneered
data sharing for these reasons, neuroimaging had not kept pace. In response, we
introduce the Autism Brain Imaging Data Exchange (ABIDE) – a grassroots
consortium aggregating and openly sharing 1112 existing resting-state functional
magnetic resonance imaging (R-fMRI) datasets with corresponding structural MRI
and phenotypic information from 539 individuals with ASD and 573 age-matched
typical controls (TC; 7–64 years) (http://fcon_1000.projects.nitrc.org/indi/abide/). Here, we
present this resource and demonstrate its suitability for advancing knowledge of
ASD neurobiology based on analyses of 360 males with ASD and 403 male
age-matched TC. We focused on whole-brain intrinsic functional connectivity and
also survey a range of voxel-wise measures of intrinsic functional brain
architecture. Whole-brain analyses reconciled seemingly disparate themes of both
hypo and hyperconnectivity in the ASD literature; both were detected, though
hypoconnectivity dominated, particularly for cortico-cortical and
interhemispheric functional connectivity. Exploratory analyses using an array of
regional metrics of intrinsic brain function converged on common loci of
dysfunction in ASD (mid and posterior insula, posterior cingulate cortex), and
highlighted less commonly explored regions such as thalamus. The survey of the
ABIDE R-fMRI datasets provides unprecedented demonstrations of both replication
and novel discovery. By pooling multiple international datasets, ABIDE is
expected to accelerate the pace of discovery setting the stage for the next
generation of ASD studies.
We report evidence of longitudinal changes in cognitive functioning and cerebral WM integrity after chemotherapy as well as an association between both.
A subgroup of patients with breast cancer suffers from mild cognitive impairment after chemotherapy. To uncover the neural substrate of these mental complaints, we examined cerebral white matter (WM) integrity after chemotherapy using magnetic resonance diffusion tensor imaging (DTI) in combination with detailed cognitive assessment. Postchemotherapy breast cancer patients (n = 17) and matched healthy controls (n = 18) were recruited for DTI and neuropsychological testing, including the self-report cognitive failure questionnaire (CFQ). Differences in DTI WM integrity parameters [fractional anisotropy (FA) and mean diffusivity (MD)] between patients and healthy controls were assessed using a voxel-based two-sample-t-test. In comparison with healthy controls, the patient group demonstrated decreased FA in frontal and temporal WM tracts and increased MD in frontal WM. These differences were also confirmed when comparing this patient group with an additional control group of nonchemotherapy-treated breast cancer patients (n = 10). To address the heterogeneity observed in cognitive function after chemotherapy, we performed a voxel-based correlation analysis between FA values and individual neuropsychological test scores. Significant correlations of FA with neuropsychological tests covering the domain of attention and processing/psychomotor speed were found in temporal and parietal WM tracts. Furthermore, CFQ scores correlated negatively in frontal and parietal WM. These studies show that chemotherapy seems to affect WM integrity and that parameters derived from DTI have the required sensitivity to quantify neural changes related to chemotherapy-induced mild cognitive impairment.
Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.
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