The results of this study provide the first evidence that OT and AVP are both dysregulated in WS. Specifically, basal OT and to a lesser extent AVP, are elevated in WS versus TC, and are related to measures of WS social behavior. Moreover, results indicate that emotional (music) and physically aversive (cold) stimuli cause an exaggerated release of OT and AVP (to music and trend to cold) in people with WS, independent of their basal levels. With respect to WS social behavior, as hypothesized, higher levels of basal OT were correlated with increased approach to strangers but unexpectedly, also to decreased adaptive social behaviors. These results support our hypothesis that in WS, the neurobiological mechanisms that underly intensified emotional responses to music and possibly social behavior, may in part involve the dysregulated synthesis or release of both OT and AVP from the hypothalamic-neurohypophyseal system. Finally, the results indicate that subset(s) of the ~28 WS deleted genes and their altered expression ultimately disturb the mechanisms underlying the development or adult regulation of OT and AVP-related brain structures and consequently insight into their role in human emotion.
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