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From: "Csaba Pleh" <pleh(a)itm.bme.hu>
To: "Vidnyanszky Zoltan" <vidnyanszky(a)ana.sote.hu>hu>,
"Vajda Zsuzsanna" <vajda.zsuzsanna(a)drotposta.hu>hu>,
"Vajda Zsuzsanna" <vajdazs(a)edpsy.u-szeged.hu>hu>,
=?iso-8859-1?Q?T=E1rnok_Zsanett?= <tarnok(a)vadaskertalapitvany.hu>hu>,
"szendi" <szendi(a)nepsy.szote.u-szeged.hu>hu>,
"Sandor Klara" <sandor(a)jgytf.u-szeged.hu>hu>,
"Peter Molnar" <pmolnar(a)jaguar.dote.hu>hu>,
=?iso-8859-1?Q?P=E9ley_Bernadette?= <peley(a)btk.pte.hu>hu>,
=?iso-8859-1?B?UGFwIErhbm9z?= <eurania(a)mail.uti.hu>hu>,
"Pleh" <pleh(a)itm.bme.hu>hu>,
"Santha Miklos" <Santha(a)nucleus.szbk.u-szeged.hu>hu>,
"Kri Szabolcs" <SZKERI(a)phys.szote.u-szeged.hu>hu>,
"Janka Zoltan professzor" <janka(a)nepsy.szote.u-szeged.hu>hu>,
"Beke Monika" <b.moni(a)itm.bme.hu>hu>, "gadoros"
<gadoros(a)axelero.hu>hu>,
"Gyori" <GyoriMiklos(a)axelero.hu>hu>, "halasz"
<halasz(a)opni.hu>hu>,
"Kovacs Gyula" <g.kovacs(a)richter.hu>hu>,
"Kovacs Ilona" <ikovacs(a)cyclops.rutgers.edu>du>,
"Lukacs" <alukacs(a)axelero.hu>hu>, "Racsmany"
<racsmany(a)edpsy.u-szeged.hu>hu>,
"Laszlo Janos" <laszlo(a)mtapi.hu>hu>,
=?iso-8859-1?B?S2924WNzIEtyaXN082Y=?= <kristof.k(a)chello.hu>hu>,
"Krajcsi Attila" <krajcsi(a)izabell.elte.hu>hu>,
"Korossy Judit" <korossy(a)edpsy.u-szeged.hu>hu>,
=?iso-8859-1?B?S/NueWEgQW5pa/M=?= <konya(a)izabell.elte.hu>hu>,
=?iso-8859-1?Q?Ko=F3s_Orsolya?= <kooso(a)mtapi.hu>hu>,
"Kenesei Istvan" <kenesei(a)sol.cc.u-szeged.hu>hu>,
"Hamori Eszter" <ehamori(a)mtapi.hu>hu>,
=?iso-8859-1?Q?Gergely_Gy=F6rgy?= <gergelyg(a)mtapi.hu>hu>,
"Futo Judit" <tokimano(a)yahoo.com>om>,
=?iso-8859-1?B?RmVo6XJN?= <feherm(a)phil.philos.bme.hu>hu>,
=?iso-8859-1?B?RfZycyBTemF0aG3hcnk=?= <szathmary(a)colbud.hu>hu>,
"Dr. Pogany Gabor" <pogany(a)williams.ngo.hu>hu>,
=?iso-8859-1?Q?Dank=F3_Bertalan?= <danko.bertalan(a)axelero.hu>hu>,
<Csilla.Gyenis(a)colbud.hu>hu>,
=?iso-8859-1?Q?Csibra_Gerg=F5?= <g.csibra(a)bbk.ac.uk>uk>,
=?iso-8859-1?Q?Cs=E1nyi_Vilmos?= <csanyi13(a)axelero.hu>hu>,
=?iso-8859-1?Q?Czigler_Istv=E1n?= <czigler(a)cogpsyphy.hu>hu>,
"Boross Ottilia" <ottilia(a)btk.ppke.hu>hu>,
"Barotfi Edit" <barotfi(a)zeus.colbud.hu>hu>,
"Balazs Gulyas" <Balazs.Gulyas(a)neuro.ki.se>se>,
"Aurel GABRIS" <gabrisa(a)optics.szfki.kfki.hu>hu>,
"Attila Krajcsi" <krajcsi(a)edpsy.u-szeged.hu>hu>,
"Agnes Kovacs" <agikov(a)hotmail.com>om>,
=?iso-8859-1?B?wWThbSBHefZyZ3k=?= <dradam(a)ludens.elte.hu>hu>,
"koglist" <koglist(a)cogpsyphy.hu>hu>, <ajuska(a)axelero.hu>hu>,
=?iso-8859-1?Q?Andr=E1s_Rung?= <rungandras(a)hotmail.com>om>,
"Gabi Felhosi" <felhogab(a)hotmail.com>om>,
"Gabor Zemplen" <zemplen(a)hps.elte.hu>hu>,
"Gabris Krisztian" <gabrikri(a)freemail.hu>hu>,
"Gervain Judit" <h633301(a)stud.u-szeged.hu>hu>,
"Lilla" <mlillus(a)izabell.elte.hu>hu>, "Mund Katalin"
<mundka(a)freemail.hu>hu>,
"noemi" <hahnoemi(a)freemail.hu>
Subject: Ursula Bellugi es A. Karmiloff -Smith eloadasa majus 2-an a
Collegium Budapestben
Date: Tue, 23 Apr 2002 12:46:12 +0200
---
The Rector
and Permanent Fellows of
COLLEGIUM BUDAPEST / Institute for Advanced Study
invite you to a
Public Session
by
Ursula Bellugi
and Annette Karmiloff-Smith
on Thursday, 2 May 2002, at 5.00 p.m.
in Collegium Budapest
1014 Budapest
Szentháromság u. 2.
The session is organized on the occasion of the workshop held at the
Collegium on
METHODOLOGICAL ASPECTS OF WILLIAMS SYNDROME RESEARCH
organized by the Collegium and BME Center for Cognitive Science
Linking Cognitive Neuroscience and Molecular
Genetics:
New Perspectives from Williams Syndrome
Ursula Bellugi
Edward S. Klima
Laboratory for Cognitive Neuroscience
The Salk Institute for Biological Studies
La Jolla, CA
Introduction to Williams Syndrome. Recent major advances in cognitive
neuroscience, in brain imaging and molecular genetics make this an ideal
time
to begin to examine the links between these levels through the study of
specific
genetic syndromes. We present an historical approach which contrasts
different
genetically based disorders such as Williams syndrome with others such as
Down syndrome. Williams syndrome is a rare genetically-based disorder
resulting in a fascinating and puzzling profile of peaks and valleys of
abilities.
Starting at a point in time where little to nothing was known about the
syndrome, we will show how initial studies have found that the syndrome
results in specific dissociations in higher cognitive functions, both within
and
across domains: a) cognitive deficits but relative strength in language; b)
extreme disorders in spatial cognition but strength in face processing; as
well as
c) hypersociability. Studies of cognitive functions, brain structure,
brain
function, and molecular genetics resulting from such syndromes can thus help
begin to forge links between disparate levels, including brain, gene, and
cognition.
Neurobiological Findings Contrasting Genetic Syndromes. We will present
initial findings from studies of Williams syndrome involving cognitive,
neuromorphological, neurophysiological, brain cytoarchitectonic and genetic
probes. The neuromorphological characterization of Williams syndrome using
quantitative high resolution voluming of magnetic resonance images (MRI)
suggests that there are differential areas of brain development in two
contrasting genetic syndromes. Although cerebral volumes are smaller than
normal in both Williams syndrome and Down syndrome subjects, anterior brain
volume and limbic structure volume appear proportionately better preserved
in
Williams syndrome, and neocerebellar volumes are actually enlarged. Primary
auditory areas also appear to be disproportionately large in Williams
syndrome
subjects, compared to Down syndrome and normal controls, perhaps
subserving relative strengths in language and affinity for music. We will
present results of initial studies in language, face, and space processing
that
provide clues to neurophysiological phenotypic markers in Williams syndrome.
Summary: These studies may in the long run provide new clues to the
neurobiological basis of domains of higher cognitive functioning. The
finding
that specific brain regions are selectively preserved and impaired in
diverse
genetically-based syndromes suggests that they may come under the influence
of specific genetic developmental factors, or that their development is
mutually
interactive. Such issues linking cognitive phenotypes, neural systems and
molecular genetics may have implications for cortical plasticity, and are
important to central questions of cognitive neuroscience.
CV of Dr. Ursula Bellugi: she is Professor at The Salk Institute for
Biological Studies,
as well as Director of the Laboratory for Cognitive Neuroscience, and
Adjunct Professor
at UCSD and SDSU, and an Associate with the Sloan Center for Theoretical
Neurobiology. Much of her research is in collaboration with her husband,
Edward S.
Klima. Both have doctorates from Harvard University and they have received
many
awards for their research, including two MERIT awards from the National
Institute of
Child Health and Development, a Neuroscience Investigator Award from the
National
Institute on Deafness., and the Distinguished Scientific Contribution Award
from the
American Psychological Association. Dr. Bellugi has also received the
Foundation
IPSEN Prize in Neuronal Plasticity, together with Torsten Wiesel and
Wolfgang Singer.
Bellugi and Klima's research is focused on the biological foundations of
language and
other cognitive functions and their genetic basis. Bellugi and Klima have
co-authored
several hundred papers and books including The Signs of Language and What
the Hands
Reveal About the Brain as well as the recent book Journey from Cognition to
Brain to
Gene: Perspectives from Williams Syndrome (which has been nominated for an
award).
These studies permit the exploration of some of the central issues of
cognitive
neuroscience linking cognitive functions with their bases in neurobiology
and gene
expression.
Genotype Phenotype Relations:
Why a Cognitive Developmental Perspective is Crucial
Annette Karmiloff-Smith
I will discuss three reasons why genotype/phenotype mapping is not
straight-forward
even in a genetic disorder where the deleted genes and the pattern of
behavioural
impairments have already been identified. The case of Williams syndrome (WS)
serves
as a model. First, genotype/phenotype relations will be discussed with
respect to older
children and adults with WS, compared to non-WS individuals with similar but
smaller
deletions on chromosome 7q11.23. Our studies suggest that it is at the level
of underlying
*cognitive* processes, and not behavioural outcomes, that genotype/phenotype
relations
must be explored. Second, I will show how even in domains
where people with WS score in the range of normal controls, the cognitive
processes they
use are different. Third, I will argue that it essential to consider
genotype/phenotype
relations in early infancy and not solely in the phenotypic outcome. The
infant brain is
not like a Swiss army knife, simply handed down by evolution with preformed,
specialized components that may be individually impaired at birth. Rather,
subtle
impairments early on can have a differential impact on different domains in
the
phenotypic outcome. Ontogenetic development itself is the clue to
understanding
developmental disorders and their relation to the structure of the adult
cognitive system.
CV of Annette Karmiloff-Smith: she Professor and Head of the Neurocognitive
Development Unit at the Institute of Child Health in London where she runs a
research
team examining cognitive development in genetic disorders. She has a
Doctorat en
Psychologie Génétique et Expérimentale from the University of Geneva, where
she
studied and worked with the Swiss psychologist, Jean Piaget, at the Centre
International
d'Epistemologie Genetique. She is a Fellow of the British Academy and of
the Academy *
of Medical Sciences. In 1995, she was awarded the British Psychological
Society's Book
Award for excellence in the literature of psychology for her book Beyond
Modularity: A
developmental perspective on cognitive science (MIT Press, 1992). Her
co-authored
book, Rethinking Innateness: A Connectionist Perspective on Development,
(MIT Press,
1996) was nominated for the 1997 American Psychological Association Eleanor
Maccoby Prize. With her daughter, Kyra Karmiloff, she has written two books
bringing
science to the general public. Author of 7 books and of some 200 chapters
and articles in
scientific journals, her works have been translated into Japanese, Chinese,
Italian,
Spanish, French, Greek, Hungarian, Arabic and Hebrew.
Csaba Pleh, Professor of Psychology
Budapest U. of Technology and Economics, Center for Cognitive Science
Presently at Collegium Budapest, Budapest, Szentharomsag u 2 H-1014
cspleh@ colbud.hu, T: 3612248323, Fax: 3612248310 Mobile: (06)303500431