Resting-state functional connectivity in adults with 47,XXX: a 7 Tesla MRI study.

Triple X syndrome is a sex chromosomal aneuploidy characterized by the presence of a supernumerary X chromosome, resulting in a karyotype of 47,XXX in affected females. It has been associated with a variable cognitive, behavioral, and psychiatric phenotype, but little is known about its effects on brain function. We therefore conducted 7 T resting-state functional magnetic resonance imaging and compared data of 19 adult individuals with 47,XXX and 21 age-matched healthy control women using independent component analysis and dual regression. Additionally, we examined potential relationships between social cognition and social functioning scores, and IQ, and mean functional connectivity values. The 47,XXX group showed significantly increased functional connectivity of the fronto-parietal resting-state network with the right postcentral gyrus. Resting-state functional connectivity (rsFC) variability was not associated with IQ and social cognition and social functioning deficits in the participants with 47,XXX. We thus observed an effect of a supernumerary X chromosome in adult women on fronto-parietal rsFC. These findings provide additional insight into the role of the X chromosome on functional connectivity of the brain. Further research is needed to understand the clinical implications of altered rsFC in 47,XXX.

Hippocampal-striatal functional connectivity supports processing of temporal expectations from associative memory.

The hippocampus and dorsal striatum are both associated with temporal processing, but they are thought to play distinct roles. The hippocampus has been reported to contribute to storing temporal structure of events in memory, whereas the striatum contributes to temporal motor preparation and reward anticipation. Here, we asked whether the striatum cooperates with the hippocampus in processing the temporal context of memorized visual associations. In our task, participants were trained to implicitly form temporal expectations for one of two possible time intervals associated to specific cue-target associations, and subsequently were scanned using ultra-high-field 7T functional magnetic resonance imaging. During scanning, learned temporal expectations could be violated when the pairs were presented at either the associated or not-associated time intervals. When temporal expectations were met during testing trials, activity in left and right hippocampal subfields and right putamen decreased, compared to when temporal expectations were not met. Further, psycho-physiological interactions showed that functional connectivity between left hippocampal subfields and caudate decreased when temporal expectations were not met. Our results indicate that the hippocampus and striatum cooperate to process implicit temporal expectation from mnemonic associations. Our findings provide further support for a hippocampal-striatal network in temporal associative processing.

Extent of cortical involvement in amyotrophic lateral sclerosis--an analysis based on cortical thickness.

BACKGROUND: Besides the defining involvement of upper and lower motor neurons, the involvement of extramotor structures has been increasingly acknowledged in amyotrophic lateral sclerosis (ALS). METHODS: Here we investigated a group of 14 mildly to moderately affected ALS patients and 14 age-matched healthy control participants using cortical thickness analysis. Cortical thickness was determined from high resolution 3D T1 magnetic resonance images and involved semiautomatic segmentation in grey and white matter, cortical alignment and determination of thickness using the Laplace method. In addition to a whole-cortex analysis a region of interest approach was applied. RESULTS: ALS patients showed regions of significant cortical thinning in the pre- and postcentral gyri bilaterally. Further regions of cortical thinning included superior and inferior parietal lobule, angular and supramarginal gyrus, insula, superior frontal, temporal and occipital regions, thus further substantiating extramotor involvement in ALS. A relationship between cortical thickness of the right superior frontal cortex and clinical severity (assessed by the ALS functional rating scale) was also demonstrated. CONCLUSIONS: Cortical thickness is reduced in ALS not only in motor areas but in widespread non-motor cortical areas. Cortical thickness is related to clinical severity.

Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging study.

BACKGROUND: Triple X syndrome (47,XXX) is a relatively common sex chromosomal aneuploidy characterized by the presence of a supernumerary X chromosome in females and has been associated with a variable cognitive, behavioural and psychiatric phenotype. 47,XXX may serve as a suitable model for studying the effect of genetic architecture on brain morphology. Previous studies have shown alterations in brain structure in 47,XXX particularly in childhood and adolescence. In this study, we examined subcortical and cortical brain morphology in adult women with 47,XXX using ultra-high field 7T MRI. Given previous evidence of impaired social functioning and emotion recognition in adults with 47,XXX, we also investigated the relationship of these functions with brain morphology. METHODS: Twenty-one adult women with 47,XXX and 22 age- and sex-matched healthy controls were included. Structural T1-weighted images were acquired using a 7-Tesla magnetic resonance scanner. Measures of subcortical brain volumes, cortical surface area and thickness, and cortical folding were obtained and compared between the groups using general linear models. Additionally, we examined potential relationships between brain outcome measures and social functioning and social cognition in 47,XXX using correlation analyses. RESULTS: Adults with 47,XXX showed lower volumes of the thalamus, caudate, putamen, hippocampus, nucleus accumbens and pallidum, and larger lateral ventricle volumes. Lower surface area was found in the superior frontal gyrus and superior temporal gyrus in 47,XXX participants compared to healthy controls. Altered cortical thickness and cortical folding were not present in 47,XXX. Cortical thickness was associated with social cognition in 47,XXX. CONCLUSIONS: Results suggest that a supernumerary X chromosome in females affects subcortical and lateral ventricle volumes, and cortical surface area in adulthood. 47,XXX may serve as a suitable model for studying genetic influences on structural brain morphology across developmental stages in order to understand neurobiological mechanisms underlying cognitive and behavioural impairments.

Audiovisual integration during speech comprehension: an fMRI study comparing ROI-based and whole brain analyses.

Visual information (lip movements) significantly contributes to speech comprehension raising the question for the neural implementation of audiovisual (AV) integration during speech processing. To replicate and extend earlier neuroimaging findings, we compared two different analysis approaches in a slow event-related fMRI study of healthy native speakers of German who were exposed to AV speech stimuli (disyllabic nouns) with audio and visual signals being either congruent or incongruent. First, data was subjected to whole brain general linear model analysis after transformation of all individual data sets into standard space. Second, a region of interest (ROI) approach based on individual anatomy was used with ROI defined in areas identified previously as being important for AV processing. Standard space analysis revealed a widespread cortical network including the posterior part of the left superior temporal sulcus, Broca's region and its right hemispheric counterpart showing increased activity for incongruent stimuli. The ROI approach allowed to identify differences in activity between Brodmann areas 44 and 45, within Broca's area for incongruent stimulation, and also allowed to study activity of subdivisions of superior temporal regions. The complementary strengths and weaknesses of the two analysis approaches are discussed.

Tit-for-tat: the neural basis of reactive aggression.

Aggressive behavior is a basic form of human social interaction, yet little is known about its neural substrates. We used a laboratory task to investigate the neural correlates of reactive aggression using functional magnetic resonance imaging. The task is disguised as a reaction-time competition between the subject and two opponents and entitles the winner to punish the loser. It seeks to elicit aggression by provocation of the subject. As each single trial in this task is separated into a decision phase, during which the severity of the prospective punishment of the opponent is set, and an outcome phase, during which the actual punishment is applied or received, the paradigm enables us to analyze the neural events during each of these phases. Specific neural responses in areas related to negative affect, cognitive control and reward processing provide additional information about the cognitive, emotional and motivational processes underlying reactive aggressive behavior and afford us with the possibility to test and expand theories on aggression such as the General Aggression Model.