Defining the social phenotype in Williams syndrome: A model for linking gene, the brain, and behavior / Anna JARVINEN-PASLEY in Development and Psychopathology, 20-1 (Winter 2008)  

Public ISBD [article]  inDevelopment and Psychopathology > 20-1 (Winter 2008) . - p.1-35 Titre : Defining the social phenotype in Williams syndrome: A model for linking gene, the brain, and behavior Type de document : texte imprimé Auteurs : Anna JARVINEN-PASLEY, Auteur ; Ursula BELLUGI, Auteur ; Allan L. REISS, Auteur ; Judy REILLY, Auteur ; Debra L. MILLS, Auteur ; Albert GALABURDA, Auteur ; Julie R. KORENBERG, Auteur Année de publication : 2008 Article en page(s) : p.1-35 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Research into phenotype–genotype correlations in neurodevelopmental disorders has greatly elucidated the contribution of genetic and neurobiological factors to variations in typical and atypical development. Etiologically relatively homogeneous disorders, such as Williams syndrome (WS), provide unique opportunities for elucidating gene–brain–behavior relationships. WS is a neurogenetic disorder caused by a hemizygous deletion of approximately 25 genes on chromosome 7q11.23. This results in a cascade of physical, cognitive–behavioral, affective, and neurobiological aberrations. WS is associated with a markedly uneven neurocognitive profile, and the mature state cognitive profile of WS is relatively well developed. Although anecdotally, individuals with WS have been frequently described as unusually friendly and sociable, personality remains a considerably less well studied area. This paper investigates genetic influences, cognitive–behavioral characteristics, aberrations in brain structure and function, and environmental and biological variables that influence the social outcomes of individuals with WS. We bring together a series of findings across multiple levels of scientific enquiry to examine the social phenotype in WS, reflecting the journey from gene to the brain to behavior. Understanding the complex multilevel scientific perspective in WS has implications for understanding typical social development by identifying important developmental events and markers, as well as helping to define the boundaries of psychopathology. En ligne : http://dx.doi.org/10.1017/s0954579408000011 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331 [article] Defining the social phenotype in Williams syndrome: A model for linking gene, the brain, and behavior [texte imprimé] / Anna JARVINEN-PASLEY, Auteur ; Ursula BELLUGI, Auteur ; Allan L. REISS, Auteur ; Judy REILLY, Auteur ; Debra L. MILLS, Auteur ; Albert GALABURDA, Auteur ; Julie R. KORENBERG, Auteur . - 2008 . - p.1-35. Langues : Anglais (eng) in Development and Psychopathology > 20-1 (Winter 2008) . - p.1-35 Index. décimale : PER Périodiques Résumé : Research into phenotype–genotype correlations in neurodevelopmental disorders has greatly elucidated the contribution of genetic and neurobiological factors to variations in typical and atypical development. Etiologically relatively homogeneous disorders, such as Williams syndrome (WS), provide unique opportunities for elucidating gene–brain–behavior relationships. WS is a neurogenetic disorder caused by a hemizygous deletion of approximately 25 genes on chromosome 7q11.23. This results in a cascade of physical, cognitive–behavioral, affective, and neurobiological aberrations. WS is associated with a markedly uneven neurocognitive profile, and the mature state cognitive profile of WS is relatively well developed. Although anecdotally, individuals with WS have been frequently described as unusually friendly and sociable, personality remains a considerably less well studied area. This paper investigates genetic influences, cognitive–behavioral characteristics, aberrations in brain structure and function, and environmental and biological variables that influence the social outcomes of individuals with WS. We bring together a series of findings across multiple levels of scientific enquiry to examine the social phenotype in WS, reflecting the journey from gene to the brain to behavior. Understanding the complex multilevel scientific perspective in WS has implications for understanding typical social development by identifying important developmental events and markers, as well as helping to define the boundaries of psychopathology. En ligne : http://dx.doi.org/10.1017/s0954579408000011 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331

Linking behaviour, brain, and genes in two different genetic syndromes / Ursula BELLUGI

Public ISBD in Neurodevelopmental Disorders: Cognitive/Behavioural Phenotypes / Daria RIVA Titre : Linking behaviour, brain, and genes in two different genetic syndromes Type de document : texte imprimé Auteurs : Ursula BELLUGI, Auteur ; Edward S. KLIMA, Auteur ; Julie R. KORENBERG, Auteur Année de publication : 2005 Importance : p.39-58 Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=161 in Neurodevelopmental Disorders: Cognitive/Behavioural Phenotypes / Daria RIVA Linking behaviour, brain, and genes in two different genetic syndromes [texte imprimé] / Ursula BELLUGI, Auteur ; Edward S. KLIMA, Auteur ; Julie R. KORENBERG, Auteur . - 2005 . - p.39-58. Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=161

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A preliminary study of orbitofrontal activation and hypersociability in Williams Syndrome / Masaru MIMURA in Journal of Neurodevelopmental Disorders, 2-2 (June 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.93-98 Titre : A preliminary study of orbitofrontal activation and hypersociability in Williams Syndrome Type de document : texte imprimé Auteurs : Masaru MIMURA, Auteur ; Fumiko HOEFT, Auteur ; Motoichiro KATO, Auteur ; Nobuhisa KOBAYASHI, Auteur ; Kristen SHEAU, Auteur ; Judith PIGGOT, Auteur ; Debra L. MILLS, Auteur ; Albert GALABURDA, Auteur ; Julie R. KORENBERG, Auteur ; Ursula BELLUGI, Auteur ; Allan L. REISS, Auteur Article en page(s) : p.93-98 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Individuals with Williams syndrome (WS) demonstrate an abnormally positive social bias. However, the neural substrates of this hypersociability, i.e., positive attribution bias and increased drive toward social interaction, have not fully been elucidated. METHODS: We performed an event-related functional magnetic resonance imaging study while individuals with WS and typically developing controls (TD) matched positive and negative emotional faces. WS compared to TD showed reduced right amygdala activation during presentation of negative faces, as in the previous literature. In addition, WS showed a unique pattern of right orbitofrontal cortex activation. While TD showed medial orbitofrontal cortex activation in response to positive, and lateral orbitofrontal cortex activation to negative, WS showed the opposite pattern. In light of the general notion of a medial/lateral gradient of reward/punishment processing in the orbitofrontal cortex, these findings provide an additional biological explanation for, or correlate of positive attribution bias and hypersociability in WS. En ligne : http://dx.doi.org/10.1007/s11689-009-9041-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] A preliminary study of orbitofrontal activation and hypersociability in Williams Syndrome [texte imprimé] / Masaru MIMURA, Auteur ; Fumiko HOEFT, Auteur ; Motoichiro KATO, Auteur ; Nobuhisa KOBAYASHI, Auteur ; Kristen SHEAU, Auteur ; Judith PIGGOT, Auteur ; Debra L. MILLS, Auteur ; Albert GALABURDA, Auteur ; Julie R. KORENBERG, Auteur ; Ursula BELLUGI, Auteur ; Allan L. REISS, Auteur . - p.93-98. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.93-98 Index. décimale : PER Périodiques Résumé : Individuals with Williams syndrome (WS) demonstrate an abnormally positive social bias. However, the neural substrates of this hypersociability, i.e., positive attribution bias and increased drive toward social interaction, have not fully been elucidated. METHODS: We performed an event-related functional magnetic resonance imaging study while individuals with WS and typically developing controls (TD) matched positive and negative emotional faces. WS compared to TD showed reduced right amygdala activation during presentation of negative faces, as in the previous literature. In addition, WS showed a unique pattern of right orbitofrontal cortex activation. While TD showed medial orbitofrontal cortex activation in response to positive, and lateral orbitofrontal cortex activation to negative, WS showed the opposite pattern. In light of the general notion of a medial/lateral gradient of reward/punishment processing in the orbitofrontal cortex, these findings provide an additional biological explanation for, or correlate of positive attribution bias and hypersociability in WS. En ligne : http://dx.doi.org/10.1007/s11689-009-9041-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Violence: heightened brain attentional network response is selectively muted in Down syndrome / Jeffrey S. ANDERSON in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.15 Titre : Violence: heightened brain attentional network response is selectively muted in Down syndrome Type de document : texte imprimé Auteurs : Jeffrey S. ANDERSON, Auteur ; Scott M. TREIMAN, Auteur ; Michael A. FERGUSON, Auteur ; Jared A. NIELSEN, Auteur ; Jamie O. EDGIN, Auteur ; Li DAI, Auteur ; Guido GERIG, Auteur ; Julie R. KORENBERG, Auteur Article en page(s) : p.15 Langues : Anglais (eng) Mots-clés : Attention  Down syndrome  Violence  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: The ability to recognize and respond appropriately to threat is critical to survival, and the neural substrates subserving attention to threat may be probed using depictions of media violence. Whether neural responses to potential threat differ in Down syndrome is not known. METHODS: We performed functional MRI scans of 15 adolescent and adult Down syndrome and 14 typically developing individuals, group matched by age and gender, during 50 min of passive cartoon viewing. Brain activation to auditory and visual features, violence, and presence of the protagonist and antagonist were compared across cartoon segments. fMRI signal from the brain's dorsal attention network was compared to thematic and violent events within the cartoons between Down syndrome and control samples. RESULTS: We found that in typical development, the brain's dorsal attention network was most active during violent scenes in the cartoons and that this was significantly and specifically reduced in Down syndrome. When the antagonist was on screen, there was significantly less activation in the left medial temporal lobe of individuals with Down syndrome. As scenes represented greater relative threat, the disparity between attentional brain activation in Down syndrome and control individuals increased. There was a reduction in the temporal autocorrelation of the dorsal attention network, consistent with a shortened attention span in Down syndrome. Individuals with Down syndrome exhibited significantly reduced activation in primary sensory cortices, and such perceptual impairments may constrain their ability to respond to more complex social cues such as violence. CONCLUSIONS: These findings may indicate a relative deficit in emotive perception of violence in Down syndrome, possibly mediated by impaired sensory perception and hypoactivation of medial temporal structures in response to threats, with relative preservation of activity in pro-social brain regions. These findings indicate that specific genetic differences associated with Down syndrome can modulate the brain's response to violence and other complex emotive ideas. En ligne : http://dx.doi.org/10.1186/s11689-015-9112-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Violence: heightened brain attentional network response is selectively muted in Down syndrome [texte imprimé] / Jeffrey S. ANDERSON, Auteur ; Scott M. TREIMAN, Auteur ; Michael A. FERGUSON, Auteur ; Jared A. NIELSEN, Auteur ; Jamie O. EDGIN, Auteur ; Li DAI, Auteur ; Guido GERIG, Auteur ; Julie R. KORENBERG, Auteur . - p.15. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.15 Mots-clés : Attention  Down syndrome  Violence  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: The ability to recognize and respond appropriately to threat is critical to survival, and the neural substrates subserving attention to threat may be probed using depictions of media violence. Whether neural responses to potential threat differ in Down syndrome is not known. METHODS: We performed functional MRI scans of 15 adolescent and adult Down syndrome and 14 typically developing individuals, group matched by age and gender, during 50 min of passive cartoon viewing. Brain activation to auditory and visual features, violence, and presence of the protagonist and antagonist were compared across cartoon segments. fMRI signal from the brain's dorsal attention network was compared to thematic and violent events within the cartoons between Down syndrome and control samples. RESULTS: We found that in typical development, the brain's dorsal attention network was most active during violent scenes in the cartoons and that this was significantly and specifically reduced in Down syndrome. When the antagonist was on screen, there was significantly less activation in the left medial temporal lobe of individuals with Down syndrome. As scenes represented greater relative threat, the disparity between attentional brain activation in Down syndrome and control individuals increased. There was a reduction in the temporal autocorrelation of the dorsal attention network, consistent with a shortened attention span in Down syndrome. Individuals with Down syndrome exhibited significantly reduced activation in primary sensory cortices, and such perceptual impairments may constrain their ability to respond to more complex social cues such as violence. CONCLUSIONS: These findings may indicate a relative deficit in emotive perception of violence in Down syndrome, possibly mediated by impaired sensory perception and hypoactivation of medial temporal structures in response to threats, with relative preservation of activity in pro-social brain regions. These findings indicate that specific genetic differences associated with Down syndrome can modulate the brain's response to violence and other complex emotive ideas. En ligne : http://dx.doi.org/10.1186/s11689-015-9112-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

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