Familial 7q11.23 duplication with variable phenotype.

Chromosomal microdeletions and microduplications are known to cause variable clinical features ranging from apparently normal phenotype to intellectual disability, multiple congenital anomalies, and/or other variable clinical features. 7q11.23 region deletion is the cause for Williams-Beuren syndrome and duplication of same region 7q11.23 causes distinguishable clinical phenotype. Familial inheritance is known for both microdeletion and microduplication of 7q11.23 region. Here, we report a patient of paternally inherited 7q11.23 microduplication with developmental delay, macrocephaly, and structural brain malformations.

Subjective time perception in musical imagery: An fMRI study on musicians.

The cognitive preparation of an operation without overt motor execution is referred to as imagery (of any kind). Over the last two decades of progress in brain timing studies, the timing of imagery has received little focus. This study compared the time perception of ten professional violinists' actual and imagery performances to see if such an analysis could offer a different model of timing in musicians' imagery skills. When comparing the timing profiles of the musicians between the two situations (actual and imagery), we found a significant correlation in overestimation of time in the imagery. In our fMRI analysis, we found high activation in the left cerebellum. This finding seems consistent with dedicated models of timing such as the cerebellar timing hypothesis, which assigns a "specialized clock" for tasks. In addition, the present findings might provide empirical data concerning imagery, creativity, and time. Maintaining imagery over time is one of the foundations of creativity, and understanding the underlying temporal neuronal mechanism might help us to apprehend the machinery of creativity per se.

Theta burst stimulation over left cerebellum does not modulate auditory feedback control of vocal production.

Background: Accumulating evidence has shown significant contributions of the right cerebellum to auditory-motor integration for vocal production. Whether the left cerebellum is likewise involved in vocal motor control, however, remains unclear. Methods: By applying neuronavigated continuous and intermittent theta burst stimulation (cTBS/iTBS) over the left cerebellar lobule VII (Crus I), the present event-related potential (ERP) study investigated whether the left cerebellum exerts causal effects in modulating auditory feedback control of vocal pitch production. After receiving cTBS, iTBS, or sham stimulation over the left cerebellum, a group of fifteen young adults produced sustained vowels while hearing their voice unexpectedly shifted in pitch upwards or downwards by 200 cents. The effects of cerebellar stimulation were assessed by measuring the vocal and ERP (N1/P2) responses to pitch perturbations across the conditions. Results: When compared to sham stimulation, cTBS or iTBS over the left cerebellar lobule VII (Crus I) led to no systematic changes in vocal compensations for pitch perturbations in auditory feedback. Also, the cortical N1/P2 responses did not vary significantly across the three stimulation sessions. Conclusion: These findings present the first neurobehavioral evidence suggesting that the left cerebellum is not causally associated with auditory feedback control of vocal production. Together with previously reported causal effects of the right cerebellum in modulating vocal pitch regulation, the present study lends support to the hypothesis that there is a functional lateralization of the cerebellum in vocal motor control though auditory feedback.

Anomalous Cerebellar Anatomy in Chinese Children with Dyslexia.

The cerebellar deficit hypothesis for developmental dyslexia claims that cerebellar dysfunction causes the failures in the acquisition of visuomotor skills and automatic reading and writing skills. In people with dyslexia in the alphabetic languages, the abnormal activation and structure of the right or bilateral cerebellar lobes have been identified. Using a typical implicit motor learning task, however, one neuroimaging study demonstrated the left cerebellar dysfunction in Chinese children with dyslexia. In the present study, using voxel-based morphometry, we found decreased gray matter volume in the left cerebellum in Chinese children with dyslexia relative to age-matched controls. The positive correlation between reading performance and regional gray matter volume suggests that the abnormal structure in the left cerebellum is responsible for reading disability in Chinese children with dyslexia.