Our brain imaging studies of subjects with Williams Syndrome (WMS) have attempted to identify anatomical distinctions between WMS subjects and different control groups that might shed some light on the neural bases for their distinctive behavioral profiles. our results suggest that structures in the basal ganglia and diencephalon are preserved in size relative to cortical structures in Down Syndrome (DNS) subjects. Furthermore, frontal cortical structures are disproportionately affected. In contrast, WMS subjects exhibit relatively normal frontal and limbic cortices, in addition to cerebellar size preservation. These observations serve as the basis for the following working hypotheses about relationships between behavioral and neuroanatomical features of WMS and DNS: It may be that relative preservation of superior temporal and related frontal cortical and insular structures, and possibly neocerebellar preservation, underly the sparing of linguistic functions in WMS. Similarly, preserved affective function and social abilities may emerge as a result of sparing of structures such as amygdala and related limbic structures, and mesial and orbitofrontal cortices. The disproportionate impairment on visuo-motor tasks may be related to particular vulnerability of parieto-occipital cortical structures in WMS. The goal of the proposed anatomical studies is to garner evidence relevant to these working hypotheses, and to extend our anatomical findings by using a higher-resolution imaging protocol and obtaining more specific anatomical measures in larger groups of WMS subjects and controls. With a standardized MR imaging protocol and brain morphometric analysis, we propose to study 100 WMS subjects, 50 IQ-matched DNS subjects, and 30 normal age-matched controls over five years.

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1
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1996
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Chailangkarn, Thanathom; Noree, Chalongrat; Muotri, Alysson R (2018) The contribution of GTF2I haploinsufficiency to Williams syndrome. Mol Cell Probes 40:45-51
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Griesi-Oliveira, Karina; Suzuki, Angela May; Muotri, Alysson Renato (2017) TRPC Channels and Mental Disorders. Adv Exp Med Biol 976:137-148
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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

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