The purpose of this research continues to be to link variability in the phenotypic expression of specific patterns of a abnormally brain function in individuals with Williams Syndrome (WMS) to variability in brain structure and neurocognitive and genetic profiles as determined in the other projects of this program project. Previously we identified electrophysiological markers of abnormal brain function linked to the processing of faces and abnormal auditory language and sensory processing typical of individuals with WMS. We have begin to develop templates for each of these markers to characterize the variability in the patterns of brain activity across normal controls and individuals with WMS. In the proposed studies we will employ these templates along with modified diagnostic versions of the previous paradigms to assess the extent to which an individual with WMS fits the typical WMS pattern or may fall closer to the normal range. Variability in the expression of the phenotypic markers of brain function linked to specific cognitive functions will in turn be compared with concomitant variability in the genetic structural and neurocognitive profiles. Additionally, we have developed new paradigms to study brain function linked to differential activation of the dorsal and ventral visual streams perception and recognition of facial expressions, and language about spatial relations. We will record event-related potentials during these tasks using a high density array of 64 channels to increase the spatial distribution of our results. Behavioral and ERP data from these experiments will be compared with behavioral measures from standardized tests of language and cognitive capabilities. Variability in will also be compared with that individual's measurement of brain structure for the specific areas of the brain known to mediate that function, e.g. variability in the latency amplitude in the latency amplitude and distribution of ERPs linked to differential activation of the dorsal versus ventral visual streams will be compared with measurements of brain regions known to mediate dorsal versus ventral visual processing (in conjunction with subproject 0003), ERP indices of perception and recognition of facial expression will be compared with measures of the amygdala, which have been found to be abnormal in individuals with WMS. Moreover variability in the ERP patterns which have been found to be abnormal in individuals with WMS. Moreover variability in the ERP patterns elicited in the new studies and diagnostic paradigms described above will be compared with the presence or absence of specific genetic abnormalities typically observed in these individuals (in conjunction with subproject 0005).

Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Salk Institute for Biological Studies
La Jolla
United States
Zip Code
Chailangkarn, Thanathom; Noree, Chalongrat; Muotri, Alysson R (2018) The contribution of GTF2I haploinsufficiency to Williams syndrome. Mol Cell Probes 40:45-51
Ng, Rowena; Lai, Philip; Brown, Timothy T et al. (2018) Neuroanatomical correlates of emotion-processing in children with unilateral brain lesion: A preliminary study of limbic system organization. Soc Neurosci 13:688-700
Griesi-Oliveira, Karina; Suzuki, Angela May; Muotri, Alysson Renato (2017) TRPC Channels and Mental Disorders. Adv Exp Med Biol 976:137-148
Herai, Roberto H; Negraes, Priscilla D; Muotri, Alysson R (2017) Evidence of nuclei-encoded spliceosome mediating splicing of mitochondrial RNA. Hum Mol Genet 26:2472-2479
Ng, Rowena; Brown, Timothy T; Järvinen, Anna M et al. (2016) Structural integrity of the limbic-prefrontal connection: Neuropathological correlates of anxiety in Williams syndrome. Soc Neurosci 11:187-92
Ng, Rowena; Brown, Timothy T; Erhart, Matthew et al. (2016) Morphological differences in the mirror neuron system in Williams syndrome. Soc Neurosci 11:277-88
Green, Tamar; Fierro, Kyle C; Raman, Mira M et al. (2016) Surface-based morphometry reveals distinct cortical thickness and surface area profiles in Williams syndrome. Am J Med Genet B Neuropsychiatr Genet 171B:402-13
Järvinen, Anna; Ng, Rowena; Crivelli, Davide et al. (2015) Relations between social-perceptual ability in multi- and unisensory contexts, autonomic reactivity, and social functioning in individuals with Williams syndrome. Neuropsychologia 73:127-40
Järvinen, Anna; Ng, Rowena; Bellugi, Ursula (2015) Autonomic response to approachability characteristics, approach behavior, and social functioning in Williams syndrome. Neuropsychologia 78:159-70
Ng, Rowena; Fishman, Inna; Bellugi, Ursula (2015) Frontal asymmetry index in Williams syndrome: Evidence for altered emotional brain circuitry? Soc Neurosci 10:366-75

Showing the most recent 10 out of 92 publications