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II. Hypersociability in Williams Syndrome

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II. Hypersociability in Williams Syndrome Linking Cognitive Neuroscience and Molecular Genetics: New Perspectives from Williams Syndrome Ursula Bellugi and Marie St.George (Eds.) II. Hypersociability in Williams Syndrome Wendy Jones, Ursula Bellugi, Zona Lai, and Michael Chiles Downloaded from http://mitprc.silverchair.com/jocn/article-pdf/12/Supplement 1/30/1758895/089892900561968.pdf by guest on 18 May 2021 The Salk Institute for Biological Studies Judy Reilly San Diego State University Alan Lincoln California School of Professional Psychology Ralph Adolphs University of Iowa Abstract & Studies of abnormal populations provide a rare opportunity aspects of hypersocial behavior in WMS are presented,each for examining relationships between cognition,genotype and probing specific aspects in WMS infants,toddlers,school age brain neurobiology,permitting comparisons across these children,and adults. The abnormal profile of excessively social different levels of analysis. In our studies,we investigate behavior represents an important component of the pheno- individuals with a rare,genetically based disorder called type that may distinguish WMS from other developmental Williams syndrome (WMS) to draw links among these levels. disorders. Furthermore,the studies show that the profile is A critical component of such a cross-domain undertaking is the observed across a wide range of ages,and emerges consistently clear delineation of the phenotype of the disorder in question. across multiple experimental paradigms. These studies of Of special interest in this paper is a relatively unexplored hypersocial behavior in WMS promise to provide the ground- unusual social phenotype in WMS that includes an overfriendly work for crossdisciplinary analyses of gene±brain±behavior and engaging personality. Four studies measuring distinct relationships. & INTRODUCTION The aim of the current set of studies is to investi- One of the great challenges in understanding the gate the neural and genetic bases of social behavior in genetic and brain bases of behaviors is to link studies WMS,a genetic disorder of particular interest due to across different levels of investigation. Studies of syn- pronounced abnormalities in the social domain. The dromes that involve atypical cognition,brain organiza- paper integrates information from several sources to tion,and molecular genetic structure provide an define a social phenotype for WMS. Individuals with opportunity to link such domains. There has been WMS are contrasted with individuals who have other considerable progress in cross-domain studies in the genetically based syndromes,such as Down syndrome neurosciences,especially in the cognitive neuros- (DNS) and Autism,as well as with normal control ciences,over the past decade using Williams syndrome subjects,to understand which particular aspects of (WMS) as a model (Bellugi,Lichtenberger,Mills,Gala- abnormal social behavior are specific to WMS,and to burda,& Korenberg,1999b; Bellugi,Mills,Jernigan, examine the relationships between social behavior and Hickok,& Galaburda,1999c; and papers in this vo- other aspects of cognition in WMS. The findings lume). Advances in techniques across disciplines have suggest that a strong drive toward social interaction improved cross-domain research,leading to a better makes up an important and distinctive part of the understanding of the neural bases of mental capacities, WMS behavioral phenotype. In addition,we suggest such as language,spatial abilities,face processing,and that the specification of a social profile in WMS may human social behavior. provide the means for cross-level analyses of the D 2000 Massachusetts Institute of Technology Journal of Cognitive Neuroscience 12:Supplement, pp.30±46 Downloaded from http://www.mitpressjournals.org/doi/pdf/10.1162/089892900561968 by guest on 01 October 2021 neuroanatomical,neurophysiological and genetic bases nounce that there is no such thing as a stranger; they say of the disorder. (and behave as if) everyone in the world is their friend. Quantifiable measurement in this domain of unrest- rained social behavior toward strangers can make a What is Williams Syndrome? contribution to understanding the unusual phenotype WMS is a rare,genetically based disorder caused by the of WMS. Moreover,these studies are relevant to ongoing absence of one copy of approximately 20 genes on and future cross-domain research examining ``hyper- chromosome 7,including the genes for elastin,syntaxin sociability'' relative to the anatomical and genetic bases 1A,Frizzled,and Lim1kinase,among others (Korenberg of the disorder. Downloaded from http://mitprc.silverchair.com/jocn/article-pdf/12/Supplement 1/30/1758895/089892900561968.pdf by guest on 18 May 2021 et al,this volume; Korenberg et al.,1996; Ewart et al., 1993). The genetic deletion typically results in mild to Background to Studies moderate mental retardation evidenced from standar- dized tests of intelligence,but a fractionated cognitive The results reported in this paper are part of a coordi- profile. Indeed,WMS individuals have poor spatial skills, nated program aimed at characterizing the cognitive, but are relatively good at certain other cognitive abilities, social and genetic profile of WMS. The paper is divided including language production and the processing of into four sections,each section containing one or more faces (Bellugi et al,this volume; Jones,Hickok,Rossen, studies. Section I examines the intersection between & Bellugi,1999a; Mervis,Morris,Bertrand,& Robinson, social expression and language in WMS. It uses results 1999; Rossen,Klima,Bellugi,Bihrle,& Jones,1996). The from narrative,storytelling and biographical interview dissociations seen in the WMS cognitive profile are of tasks to investigate clues to the WMS social profile particular interest to researchers because they offer an through language,examining the intersection of affect opportunity to identify subcomponents that are dissoci- and language. This represents the work carried out by J. able in cognition. In most studies of WMS,individuals Reilly,U. Bellugi,M. Losh,and E. Klima. Section II with WMS are matched to those with other syndromes explores the origins of sociability and affect in infants (e.g.,DNS and Autism) on age and/or IQ; the differences and toddlers with WMS. Studies in this section make use between WMS and other disorders are then examined of an experimental paradigm to measure emotional using probes that are domain-specific (see Bellugi et al., expression in structured situations,such as parental in this volume). separation. These studies were carried out by W. Jones and J. Reilly. In Section III,the issue of indiscriminate sociability and overfriendliness (i.e.,the overwhelming Why Studies of WMS Contribute to Understanding predilection to seek out and engage in conversation Sociability with strangers) in adolescents and adults is examined, Results from several studies suggest that there is also a using an experimental task designed to measure ap- characteristic personality and social nature in WMS proachability and interest in unfamiliar people. This individuals,although the facets of this personality profile section represents studies carried out by U. Bellugi,R. are still being defined. Studies show that people with Adolphs,and associates. Section IV investigates parental WMS display extensive anxiety and have behavioral report of social behavior in three contrasting groups: problems,as do individuals with other disorders that WMS,DNS,and Autistic subjects. It brings out the result in mental retardation (VanLieshout,DeMeyer, contrasts between the withdrawn asocial behavior of Curfs,& Fryns,1998; Einfeld,Tonge,& Florio,1997). autistic individuals and the hypersociability of WMS However,there has been a growing body of evidence individuals. This section represents studies carried out (from clinical and laboratory studies,parental report, by U. Bellugi,A. Lincoln,Z. Lai,M. Chiles,and W. Jones. and from our own observations of several hundred Taken together,the series of studies reported in the subjects) that WMS individuals may be unusually soci- paper highlight,for the first time,the hypersociability of able,friendly,and empathic (see reports in this article individuals with WMS as an important and quantifiable and Tager-Flusberg,Sullivan,Boshart,Guttman,& Le- aspect of the WMS behavioral phenotype. vine,1996). For instance,in circumstances typically eliciting social reservation (e.g.,encountering strangers), Subject Selection for Studies infants,toddlers,children,and adults with WMS fre- quently come directly up to and begin engaging stran- The WMS participants in the studies reported were gers. Parents report attempts to train their WMS child required to have been diagnosed by a medical geneticist (e.g.,adolescent daughter) not to talk to strangersÐto or dysmorphologist familiar with WMS. In addition,each no avail. The parent may then watch in private horror as subject met criteria for the syndrome according to the their WMS daughter walks up to a complete stranger in a WMS Diagnostic Scoresheet developed by the Williams public place,looks him right in the eye and then asks in a Syndrome Medical Advisory Board (see also for clinical friendly and engaging manner,``Are you a stranger?'' definitions Morris,Demsey,Leonard,Dilts,& Blackburn, Other WMS children and adults in our experience an- 1988; Preus,1984). The diagnosis of WMS was geneti- Jones et al.31 Downloaded from http://www.mitpressjournals.org/doi/pdf/10.1162/089892900561968 by guest on 01 October 2021 cally confirmed when
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