P1: KNP Trim: 6in × 9in Top: 0.498in Gutter: 0.83in CUUS886-06 cuus886/Worthman ISBN: 978 0 521 89503 3 September 14, 2009 14:24 six We are Social – Therefore We Are The Interplay of Mind, Culture and Genetics in Williams Syndrome Carol Zitzer-Comfort, Judith Reilly, Julie R. Korenberg, and Ursula Bellugi INTRODUCTION Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemideletion in chromosome band 7q11.23, including the gene for elastin (ELN) and approximately 20 surrounding genes (Ewart et al., 1993; Korenberg, Chen, et al., 2000; Korenberg, Bellugi, Salandanan, Mills, & Reiss, 2003; and Korenberg et al., 2008). More than 95% of individuals clin- ically diagnosed with WS are estimated to have deletions that fall within the same breakpoints (Perez-Jurado, Peoples, Kaplan, Hamel, & Franke, 1996; Korenberg et al., 2003) (see Figure 6.1). Physical characteristics of WS include specific facial and physical anomalies; a variety of cardiovascu- lar difficulties, commonly supravalvular aortic stenosis; mild to moderate mental retardation; failure to thrive in infancy; and small stature (Bellugi, Lichtenberger, Jones, Lai, & St. George, 2000; Morris & Mervis, 1999, 2000; and Korenberg et al., 2008). CHARACTERISTIC FEATURES OF WILLIAMS SYNDROME The basic anatomy of the brain in people with Williams syndrome is normal, but the total volume is somewhat reduced. The areas that seem to be best preserved include the frontal lobes and a part of the cerebellum called the neocerebellum, as well as parts of the temporal lobes known as the limbic area, the primary auditory area and the planum temporale (Lenhoff, Wang, Greenberg, & Bellugi (1997). 138