Plesa Skwerer, Daniela

Tager-Flusberg, Helen

Frontiers in Psychology

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Daniela ePlesa Skwerer

Helen eTager-Flusberg

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Innovative approaches to the study of social phenotypes in neurodevelopmental disorders: An introduction to the research topic

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Boston UniversityOpenBU http://open.bu.eduBU Open Access Articles BU Open Access Articles2013Innovative approaches to the studyof social phenotypes inneurodevelopmental disorders:...This work was made openly accessible by BU Faculty. Please share how this access benefits you.Your story matters.VersionCitation (published version): Plesa Skwerer D and Tager-Flusberg H (2013) Innovative approachesto the study of social phenotypes in neurodevelopmental disorders:an introduction to the research topic. Front. Psychol. 4:747. doi:10.3389/fpsyg.2013.00747https://hdl.handle.net/2144/26955Boston UniversityEDITORIALpublished: 17 October 2013doi: 10.3389/fpsyg.2013.00747Innovative approaches to the study of social phenotypes inneurodevelopmental disorders: an introduction to theresearch topicDaniela Plesa Skwerer* and Helen Tager-FlusbergDepartment of Psychology, Boston University, Boston, MA, USA*Correspondence: dplesas@bu.eduEdited by:Natasha Kirkham, Birkbeck College, UKReviewed by:Teodora Gliga, Birkbeck College, UKKeywords: neurodevelopmental disorders, social phenotypes, cross-syndrome and longitudinal approaches, autism spectrum disorders, WilliamssyndromeThe field of social-affective neuroscience is growing exponentially,fueled by the availability and widespread use of non-invasive neu-roimaging techniques, by advances in molecular genetics and byincreasing sophistication in the behavioral characterization ofsocial-affective functioning in both typical and atypical humandevelopment. In this context there has been a surge of inter-est in studying neurodevelopmental disorders (NDDs) as pos-sible windows into the neurogenetic basis of the “social mind”.While holding great promise for advancing our understandingof genotype-phenotype relationships, research on neurogeneticdisorders has encountered considerable challenges, ranging fromthe rarity of many NDDs with known genetic etiology and theconsiderable heterogeneity in phenotypic expressions within syn-dromes, to the difficulty of designing studies able to take inaccount the critical role played by developmental and epigeneticprocesses in shaping phenotypic outcomes. The articles collectedin this e-book illustrate several ways in which researchers whostudy people with NDDs have attempted to overcome theselimitations.The studies selected—both reviews and original researcharticles—involve populations with NDDs whose phenotypesinclude core features related to social behavior, primarily autismspectrum disorders (ASD) and Williams syndrome (WS). Wechose to focus on these NDDs because they have been viewedas opposite extremes on the social spectrum, and are often stillportrayed this way in the popular media. Research findings, bycontrast, reveal a much more complex mixture of social-affectivestrengths and weaknesses in both syndromes, underscoring theneed for detailed descriptions of social phenotypes. This ebookbrings together a representative sample of research approachesthat have begun to uncover these complexities.In the opening article, Asada and Itakura (2011) review recentresearch on aspects of social functioning that have received con-siderable attention in studies of both ASD andWS: face and emo-tion processing, social cognition, social engagement/motivation,communicative skills and diagnostic assessment outcomes. Theydiscuss behavioral similarities and differences between WS andASD, their possible developmental origins, and argue for expand-ing cross-syndrome comparisons to examining the developmen-tal pathways leading to distinctive social-affective functioningin ASD and in WS, and to exploring the neural correlates ofsocial-behavioral phenotypes.Currently, much more is known about the neural substrates ofsocial-behavioral phenotypes in ASD than inWS, but recent neu-roimaging studies involving adults with WS are starting to bridgethis gap. Haas and Reiss (2012) provide an integrative review ofbehavioral and neuroimaging studies with WS individuals, dis-cuss the current status of knowledge about the social brain inWS, suggest a framework for understanding how the social braindevelops in WS, and propose combining different neuroimag-ing techniques (fMRI, DTI, functional connectivity analyses) withbehavioral tasks and neuropsychological assessments in longitu-dinal studies as directions for future research.The two reviews are followed by a selection of original researchstudies representing various methodological approaches to inves-tigating social phenotypes in NDDs.The first article by Karmiloff-Smith et al. (2012) presentstwo case-studies of children with partial genetic deletions inthe WS critical region (WSCR)—which encompasses about 28genes deleted from one copy of chromosome 7: a girl with 24of 28 genes deleted in the WSCR, and a boy with the oppo-site profile, i.e., only 4 genes deleted at the telomeric end of theWSCR (including GTF2I, which has been implicated in elevatedlevels of sociability typical of WS, in prior research). Cases ofpatients with partial deletions provide unique opportunities toexamine the potential contribution of specific genes in the crit-ical region to the unusual social phenotype seen in WS. Resultsfrom a large battery of experimental socio-cognitive tasks andstandardized assessments revealed a partial WS socio-cognitiveprofile in the girl, contrasting with a more autistic-like profilein the boy, suggesting that deletion of the telomeric genes alone(including GTF2I) cannot fully account for the hypersociabilitytypical of individuals with WS, and that genetic contributionsto phenotypic outcomes involve complex interactions betweengenes.The study by Cornish et al. (2012) combines cross-syndromeand prospective-longitudinal designs in examining how atten-tional profiles impact early socio-cognitive learning in childrenwith WS, children with Down syndrome (DS), and typicallydeveloping (TD). These researchers found a complex patternof differential relationships across teacher-report measures ofinattention/hyperactivity/social-behavioral profiles and measuresof receptive vocabulary and literacy in theWS compared to the DSgroups, both concurrently and after 12 months, demonstratingwww.frontiersin.org October 2013 | Volume 4 | Article 747 | 1Plesa Skwerer and Tager-Flusberg Social phenotypes in developmental disordersdomain-specific and syndrome-specific influences of attentiondeficits on socio-cognitive outcomes that appear related to thedifferent genetic abnormalities underlying DS and WS.Socio-communicative abilities, essential components of socialphenotypes, are the focus of two articles, one addressingsyndrome-specificity in pragmatic language impairments andtheir possible relations to molecular genetic variation, the otherexamining within-syndrome concurrent and longitudinal rela-tions among particular pragmatic language skills.Losh et al. (2012) conducted detailed cross-syndrome com-parisons of performance on measures of pragmatic languageability and socio-cognitive skills in language-matched boys withidiopathic autism, fragile X (FRX) syndrome with autism, FRXwithout autism, DS and TD. Their behavioral results differ-entiated children with FRX with and without autism in theirperformance on both types of measures, sharpening the defini-tion of syndrome-specific social-behavioral profiles in FRX andautism. They further examined possible molecular-genetic cor-relates of pragmatic language and theory of mind in the groupof boys with FXS (disorder caused by ‘silencing’ of the FMR1gene), and found that performance on the behavioral measureswas correlated with FMR1-related variation, providing evidencefor a testable link between genotypic and phenotypic variation.Using an individual-differences approach and longitudinaldesign to investigate relations among pragmatic abilities in chil-dren withWS across developmental time-points and in relation toexpressive vocabulary, John et al. (2012) found that the ability toverbally contribute new information within a social interactionshowed stability from preschool to school-age in children withWS, and that differences in this pragmatic skill were predictedby children’s ability to engage in triadic joint attention. This isan intriguing finding in light of evidence for atypical relationsbetween early joint attention ability and vocabulary developmentin children with WS, and underscores the need for more lon-gitudinal, developmental trajectory analyses in defining socialphenotypes in NDDs.van der Fluit et al. (2012) explored relations between per-formance on a lab-based social perception and social cognitionmeasure—the Social Attribution Task (SAT)—and parent reportsof communication and reciprocal social skills in children withWS. They report significant correlations between parent-reportedsocial reciprocity and the typicality of responses on the SATafter taking into account variability in intellectual functioning,suggesting a unique contribution of social cognition deficits tothe social reciprocity difficulties of individuals with WS. Theseauthors further analyzed children’s responses on the SAT afterreceiving specific instructions regarding stimuli- interpretation,and revealed a facilitative effect of providing additional structureon social attributions, especially for the children with WS withhigher intellectual functioning (e.g., improvements in the qualityof the their narratives), finding that may have important impli-cations for developing interventions targeting particular socialfunctioning deficits in this population.Martens et al. (2012) explored another type of socialjudgment—attribution of trustworthiness to human faces—inindividuals with WS, who have been consistently described asoverly friendly and driven to approach strangers. They used afairly new methodology—computer mouse-tracking—to capturethe continuous cognitive dynamics of social-evaluative judgmentsas they occur in real time. With this technique that allows tovisually observe and quantify the competition between responsesbefore the final approach/avoid decision is made, they demon-strated that the WS group showed an approach bias in theirincreased tendency to initially deviate toward untrustworthyfaces, despite discriminating betweenmild and extreme degrees oftrustworthiness in their final response, as the typical controls did.This methodology provides insights into the dynamics of cogni-tive processing underlying the hypersociability distinctive to theWS social-behavioral phenotype.Another novel methodological approach to examining afundamental aspect of social phenotypes—face expertise—wasadopted by Parish-Morris et al. (2013). Using eye-tracking tech-nology, these researchers investigated how visual attention todynamic faces and objects related to face recognition consideredon a continuum of ability, in a combined sample of children withASD and TD controls. They found that visual attention to facespredicted face perception skill in the combined ASD and TD sam-ple after accounting for the effect of age, but that gaze patternsdid not vary significantly by diagnostic group. By taking a dimen-sional approach instead of focusing on group comparisons, theseauthors were able to capitalize on the heterogeneity of face pro-cessing abilities found in both ASD and TD children, and carriedout a more direct test of the hypothesized link between socialattention and face expertise.In the final article, Järvinen et al. (2012) describe a multi-modal approach to exploring sensitivity to social and non-socialvisually and aurally presented affective stimuli in individuals withWS and typical controls, as reflected in behavioral responses andautonomic arousal, measured by changes in electrodermal andheart rate activity. Analyses of the psychophysiological measuresrevealed significant differences in autonomic nervous system(ANS) sensitivity to different categories of affective stimuli andbetween the visual and auditory domains in individuals withWS—a pattern of ANS reactivity different from that of the typicalcontrols. These findings show that analyses of ANS function-ing provide a useful complementary perspective to behavioralparadigms, and a more direct avenue for understanding the neu-ral substrates underlying distinctive patterns of responsiveness tosocial information found across different disorders.To conclude, the articles presented in this e-book illustrate avariety of methodological approaches that have the potential toadvance our understanding of how phenotypic outcomes emergefrom the complex interplay of genetic constraints, environmentalconditions and individual experiences, along atypical or typicaldevelopmental trajectories. These innovative approaches providea glimpse into the fascinating new directions in which the studyof NDDs may evolve. We hope you will share our enthusiasm forthis research and its promises.ACKNOWLEDGMENTSFrontiers in Psychology | Developmental Psychology October 2013 | Volume 4 | Article 747 | 2The preparation of this manuscript was supported in part by agrant from the NICHD, RO1HD33470 to Helen Tager-Flusberg.We are grateful to the individuals with neurodevelopmental dis-orders and their families for their involvement in research studiesover many years, and for giving us the motivation to propose thisresearch topic.Plesa Skwerer and Tager-Flusberg Social phenotypes in developmental disordersREFERENCESAsada, K., and Itakura, S. (2011).Social phenotypes of autism spec-trum disorders and Williamssyndrome: similarities and differ-ences. Front. Psychol. 3:247. doi:10.3389/fpsyg.2012.00247Cornish, K., Steele, A., RondinelliCobra Monteiro, C., Karmiloff-Smith, A., and Scerif, G.(2012). Attention deficits pre-dict phenotypic outcomes insyndrome-specific and domain-specific ways. Front. Psychol. 3:227.doi: 10.3389/fpsyg.2012.00227Haas, B. W., and Reiss, A. L. (2012).Social brain development inwilliams syndrome: the cur-rent status and directions forfuture research. Front. Psychol.3:186. doi: 10.3389/fpsyg.2012.00186Järvinen, A. M., Dering, B., Neumann,D., Ng, R., Crivelli, D., Grichanik,M., et al. (2012). Sensitivity ofthe autonomic nervous system tovisual and auditory affect acrosssocial and non-social domains inWilliams syndrome. Front. Psychol.3:343. doi: 10.3389/fpsyg.2012.00343John, A. E., Dobson, L. A., Thomas, L.,and Mervis, C. B. (2012). Pragmaticabilities of children with williamssyndrome: a longitudinal exami-nation. Front. Psychol. 3:199. doi:10.3389/fpsyg.2012.00199Karmiloff-Smith, A., Broadbent,H., Farran, E. K., Longhi, E.,D’Souza, D., Metcalfe, K., et al.(2012). Social cognition in williamssyndrome: genotype/phenotypeinsights from partial deletionpatients. Front. Psychol. 3:168. doi:10.3389/fpsyg.2012.00168Losh, M., Martin, G. E., Klusek,J., Hogan-Brown, A. L., andSideris, J. (2012). Social commu-nication and theory of mind inboys with autism and fragile XSyndrome. Front. Psychol. 3:266.doi: 10.3389/fpsyg.2012.00266Martens, M. A., Hasinski, A. E.,Andridge, R. R., and Cunningham,W. (2012). Continuous cogni-tive dynamics of the evaluationof trustworthiness in williamssyndrome. Front. Psychol.3:160. doi: 10.3389/fpsyg.2012.00160Parish-Morris, J., Chevallier, C.,Tonge, N., Letzen, J., Pandey, J.,and Schultz, R. T. (2013). Visualattention to dynamic faces andobjects is linked to face process-ing skills: a combined study ofchildren with autism and con-trols. Front. Psychol. 4:185. doi:10.3389/fpsyg.2013.00185van der Fluit, F., Gaffrey, M. S., andKlein-Tasman, B. P. (2012). Socialcognition in williams syndrome:relations between performanceon the social attribution taskand cognitive and behavioralcharacteristics. Front. Psychol.3:197. doi: 10.3389/fpsyg.2012.00197Received: 13 June 2013; accepted: 20September 2013; published online: 17October 2013.Citation: Plesa Skwerer D andTager-Flusberg H (2013) Innovativeapproaches to the study of social pheno-types in neurodevelopmental disorders:an introduction to the research topic.Front. Psychol. 4:747. doi: 10.3389/fpsyg.2013.00747This article was submitted toDevelopmental Psychology, a sectionof the journal Frontiers in Psychology.Copyright © 2013 Plesa Skwerer andTager-Flusberg. This is an open-accessarticle distributed under the terms of theCreative Commons Attribution License(CC BY). The use, distribution or repro-duction in other forums is permitted,provided the original author(s) or licen-sor are credited and that the originalpublication in this journal is cited, inaccordance with accepted academic prac-tice. No use, distribution or reproductionis permitted which does not comply withthese terms.www.frontiersin.org October 2013 | Volume 4 | Article 747 | 3

Innovative approaches to the study of social phenotypes in neurodevelopmental disorders: an introduction to the research topic

Daniela Plesa Skwerer

Helen Tager-Flusberg

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https://open.bu.edu/bitstream/2144/26955/1/Innovative%20approaches%20to%20the%20study%20of%20social%20phenotypes%20in%20neurodevelopmental%20disorders%3a%20an%20introduction%20to%20the%20research%20topic.pdf

Innovative approaches to the study of social phenotypes in neurodevelopmental disorders: an introduction to the research topic

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