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Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation.

ABSTRACT: Klinefelter syndrome (47, XXY) (KS) is a genetic syndrome characterized by the presence of an extra X chromosome and low level of testosterone, resulting in a number of neurocognitive abnormalities, yet little is known about brain function. This study investigated the fMRI-BOLD response from KS relative to a group of Controls to basic motor, perceptual, executive and adaptation tasks. Participants (N: KS = 49; Controls = 49) responded to whether the words "GREEN" or "RED" were displayed in green or red (incongruent versus congruent colors). One of the colors was presented three times as often as the other, making it possible to study both congruency and adaptation effects independently. Auditory stimuli saying "GREEN" or "RED" had the same distribution, making it possible to study effects of perceptual modality as well as Frequency effects across modalities. We found that KS had an increased response to motor output in primary motor cortex and an increased response to auditory stimuli in auditory cortices, but no difference in primary visual cortices. KS displayed a diminished response to written visual stimuli in secondary visual regions near the Visual Word Form Area, consistent with the widespread dyslexia in the group. No neural differences were found in inhibitory control (Stroop) or in adaptation to differences in stimulus frequencies. Across groups we found a strong positive correlation between age and BOLD response in the brain's motor network with no difference between groups. No effects of testosterone level or brain volume were found. In sum, the present findings suggest that auditory and motor systems in KS are selectively affected, perhaps as a compensatory strategy, and that this is not a systemic effect as it is not seen in the visual system.

SUBMITTER: Wallentin M

PROVIDER: S-EPMC4773384 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Project description:BackgroundPrevious studies on dental anxiety have examined the psychophysiological responses evoked in dentally anxious subjects by dental-related stimuli, but not during a real-life dental examination, which was achieved in the present study.MethodsThe heart rate, skin conductance level, and heart rate variability of 25 subjects with dental anxiety and 25 healthy controls were examined. Anxiety was determined by the Modified Dental Anxiety Scale and the Dental Anxiety Scale-Revised. The psychophysiological reactions of the two groups were compared during exposure to dental-related pictures, dental-related sounds, and an actual examination in a dental surgery.ResultsAll the dental-related stimuli provoked an increase in heart rate, i.e. visual stimuli (p<0.001; 95% CI 0.98-3.95 bpm), auditory stimuli (p<0.001; 95% CI 1.34-4.99 bpm), and a dental examination (p<0.001; 95% CI 1.26-5.39 bpm). Dental-related pictures provoked inferior skin conductance level changes compared to dental-related sounds and the dental examination (visual modality vs auditory p<0.001; 95% CI 0.039-0.152; visual modality vs examination p<0.001; 95% CI 0.083-0.275). Heart rate variability manifested in a complex pattern of responses to the dental examination. However, when exposed to all three dental-related stimuli presentation conditions, the heart rate (F = 0.352, p = 0.556), skin conductance level (F = 0.009, p = 0.926), and heart rate variability parameters of subjects with dental anxiety did not differ in comparison to the healthy controls.ConclusionsThis pilot study represents an evaluation of psychophysiological reactions during a real-life dental examination compared to single modality stimuli, and shows that a real-life dental examination provokes an increase in heart rate, heart rate variability and skin conductance level. Additionally, autonomic responses did not differ between the experimental and control groups. The key issue for future studies is the effect of real-life situations on the physiological and psychological state of the subjects, which should be considered when planning new research and studied in depth.

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Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation.

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