2008 I M F A R - Any thoughts people-???

[Guest guest]

2008 IMFAR Shows Progress in All Areas of Autism Research

International Meeting

for Autism Research

May 15-17, 2008

London

(http://www.kintera.org/site/lookup.asp?c=ghKJIYPGIqE)

(http://www.autismspeaks.org/community/resources/index.php)

(http://www.autismspeaks.org/donate/index.php)

The seventh annual International Meeting for Autism Research recently

concluded in London with more than 1150 researchers from around the world

attending

and making more than 850 presentations. Among the countries represented were

Australia, Bangladesh, Brazil, Canada, China, Denmark, Finland, France,

Greece, Iceland, India, Ireland, Israel, Mexico, Norway, Portugal, Saudi

Arabia,

South Africa, South Korea, Spain, Sweden, Taiwan, Uganda, United Kingdom,

United States, Venezuela and Vietnam.

The following are brief summaries of some of the IMFAR presentations in the

areas of autism etiology, biology, diagnosis and treatment. The record number

of attendees and the depth and breadth of the science presented signals that

autism research is truly becoming global, with advances being made across

the board. But most importantly, the science presented and discussed will help

individuals and families who are living with autism by uncovering more

effective means to diagnose, treat and determine the causes of autism.

ETIOLOGY

Environmental Science

Several presentations focused on the role of the environment as a risk

factor for autism. Genetic risk factors may be acted upon by additional

environmental factors to ultimately cause autism. This year IMFAR hosted an

educational

symposium concerning links between the environment and autism. These

presentations, led by Craig Newschaffer, Ph.D., were intended to educate the

community on ongoing research and current thinking in environmental health

science,

genetics and epidemiology that is relevant to the investigation of

environmental risk factors in autism. This symposium also served to complement

other

presentations on environmental exposures that are being examined for links to

autism, which include such factors as method of birth induction, ultrasound

frequency, as well as chemical exposures found in the home.

Irva Hertz-Picciotto, Ph.D., lead investigator of the CHARGE study at UC

, provided an overview of epidemiologic designs to study environmental

factors in neurodevelopmental disorders. She focused on epidemiologic

approaches,

outlining different study designs that each pose a different challenge. She

also stressed the importance of connecting epidemiology to neuropathology and

neurotoxicology. Her talk emphasized that timing of exposure is critical to

developmental outcome, and spoke of the promise of currently ongoing studies

that prospectively examine mothers and children in order to assess risk

factors and match them with their ultimate outcome.

Tony Persico, M.D. from the University Biomedico in Rome highlighted the

importance of a strong pathophysiological foundation to environmental research

by discussing how researchers must link particular environmental exposures to

the specific disruptions in biological functions that they cause. He presented

data from his own lab which examined function of the mitochondrial

aspartate/glutamate transporter in brain tissue from individuals affected with

autism

and also discussed newly published research that pointed to a set of genes

that affect immune function which he found may be dysregulated in autism. He

concluded that environmental exposures may not be necessary or sufficient in

themselves for development of autism, but hypothesized that they may contribute

to the apparent abrupt onset of symptoms in a subset of individuals. These

groups need to be much more carefully studied.

In two final talks, Eskenazi, Ph.D. from UC Berkeley and

, M.D. from the California Department of Health each presented different

approaches to studying risk factors from an epidemiological perspective. Dr.

Eskenazi is the lead investigator on an NIEHS/EPA longitudinal birth cohort

study

called " CHAMACOS " which follows mothers in California who have received high

levels of pesticide exposure. She assessed exposure through biological

measures and self reports, and followed children from birth through development

and examined the presence of PDD through assessment on the child behavioral

checklist. Her results indicated that almost 6% of these children went on to

develop symptoms of PDD, and that in many of these children, a genetic mutation

may account for susceptibility to pesticides. This gene, abbreviated PON, is

responsible for detoxification of pesticides. Other research has studied the

PON gene and found an association in families affected with autism, and the

early finding by the Eskenazi group will be replicated and explored further.

In contrast to Dr. Eskenazi's use of direct data collection on individual

subjects, Dr. presented his data published earlier this year in

Environmental Health Sciences that examined the rate of autism and pesticide

exposure using purely administrative data, which is available almost

exclusively in

the U.S. through the California DDS system and geographic information

systems. Although this data provides a unique opportunity to examine different

exposures and their developmental outcomes, Dr. also carefully outlined

the weaknesses and limitations of this design. He found that linking exposure

of pesticides through agricultural applications with birth record data

supported a link between organochlorine exposure in the first trimester of

pregnancy. A number of confounding factors make this an interesting study which

needs

to be replicated further, especially since the number of affected children in

the highest exposure group was relatively low. However, the pairing of these

final two presentations, each using different approaches to examine the same

question, illustrated the absolute requirement for multiple parallel

approaches to studying gene x environment interactions in autism.

" Several groups are exploring the interaction between a genetic

susceptibility and environmental factors. Understanding how subgroups of

children may be

vulnerable to specific environmental risk factors is critical for discovering

the causes of autism and for developing prevention methods, " said Geraldine

Dawson, Ph.D., Chief Science Officer, Autism Speaks.

Genetics

This year's IMFAR meeting highlighted both the complexity of the disorder

and the international nature of genetic research. Using Autism Speaks' AGRE

samples, researchers from Japan presented the first results to suggest an

autism

association with a new set of genes, called ROBO, involved in

neurodevelopment. From the other end of the globe, a group of researchers at

the Icelandic

genomic company deCode, Inc. showed an association of copy number variations

in specific chromosomal regions, validating recent findings in previous large

scale genetic studies such as the Autism Genome Project. " Because of the

complexity of autism, independent confirmation of previous results is one of

the

most important outcomes of such large international conferences, " explained

Dr. Dawson.

Many of the genetic presentations at this year's IMFAR actually took

advantage of the variable nature of autism, utilizing either the similarities

or

differences in individuals with autism as a way to identify genes involved in

the disorder. For example, a collaborative group of researchers from Vanderbilt

University and Massachusetts General Hospital for Children showed an

increased association between the gene MET and subjects with autism who also

presented with co-occurring gastrointestinal symptoms. Hu, Ph.D. from

Washington University displayed a very novel approach to reducing the

heterogeneity of autism by first using exploratory statistical techniques on

diagnostic ADI-R data from AGRE subjects that allowed her to identify four

different " types " of individuals with autism that grouped naturally together

based on

their symptoms. She then measured gene expression profiles of individuals

from each classification, finding clear genetic differences between each of the

four autism groups and controls. " Through careful consideration of specific

autism phenotypes, researchers are making significant strides in identifying

genetic risk factors in autism, " said Andy Shih, Ph.D., VP of Scientific

Affairs for Autism Speaks. " These genetic risk factors will lead to knowledge

of

the biological pathways that have been impacted in autism. "

Multiple causes

The conference also included a talk by Francesca Happe, Ph.D. who argued

that, except in rare cases, it is unlikely that the full syndrome of autism can

result from a single cause. She based her argument on twin studies that

suggest that largely nonoverlapping genes acting on each of the separate traits

of

autism (social impairments, language impairments, repetitive behaviors). She

noted that many individuals can exhibit one of these traits in isolation. In

fact, one important implication of her argument is that many people who may

have isolated impairments in one domain, such as social functioning, may not

receive the clinical services they need. Constantino, Ph.D. presented a

related perspective. He noted that, when autism runs in families (familial

autism), it is common (significantly more so than in the general population)

for clinically-unaffected male family members to exhibit features of autism,

but not the full autism syndrome. This may not be true for females or for

non-familial autism. This is important because it suggests that parents who

have

one child with autism should be vigilant for mild impairments in a second

child. Dr. Constantino also showed how quantitative characterization of the

autism symptoms can aid in the search for core genetic and neurobiologic

components of autistic syndromes.

International Autism Epidemiology Network (IAEN)

One important technique often used to parse genetic and environmental risk

factors is epidemiology. Since its inception in 2004, the International Autism

Epidemiology Network (IAEN) has developed into a unique and expansive

partnership of investigators representing nearly 30 countries and specializing

in

various areas of autism research and treatment. With the support of Autism

Speaks and the Centers for Disease Control and Prevention, the network has

provided a forum for international research collaboration in autism

epidemiology,

aimed to better our understanding of autism etiology and natural history

across the globe. Approximately 70 epidemiologists and clinicians convened the

fourth annual IAEN meeting at IMFAR.

As one of the results of this meeting, many of the representatives from

countries that maintain large, population-based health registries joined

together

to form a workgroup to develop a multi-national database that will allow for

ambitious, previously unfeasible research projects. Initial studies stemming

from this project will look at associations between autism and pre- and

peri-natal exposure to potential environmental risk factors. Another focus of

the

meeting was to outline the challenges and propose solutions to standardizing

epidemiologic methodology prior to initiating the studies. Overall, the

presentations of autism epidemiology studies in the developing world fueled the

discussion of approaches to charactere and diagnose autism across culturally

diverse settings and measure the prevalence of the disorder in these

territories thereby improving much needed resources.

BIOLOGY

For those studying the biology of autism, the meeting offered symposia and

workshops on topics ranging from brain imaging to animal models to immunology.

One of the primary biological hypotheses of autism highlighted by several at

the meeting was the concept that autism may be the result of " synaptic "

dysfunction. Synapses are the parts of nerve cells that are responsible for

transferring information from cell to cell. Keynote presenter Bourgeron,

Ph.D. discussed discoveries from his and other laboratories that have

implicated mutations in several " synapse " genes in autism. Such genes include

SHANK3,

neuroligin, and neurexin, all of which encode for proteins that work together

to make synapses properly operate.

Such results not only help direct geneticists toward studying other

" synapse " genes as potential autism risk factors but, most importantly, they

are

beginning to shed light on the underlying biological features of autism. The

concept of altered synapse functioning is consistent with the " functional

underconnectivity " theory of autism, which hypothesizes that nerve cells are

not

connected together as normal and that the net result is difficulty in passing

information between parts of the brain, leading to the unusual behaviors

collectively called autism. Several groups presented data expanding upon the

evidence for functional connectivity deficits in autism by using EEG to read

electric signals between brain regions, finding them to be altered.

Additionally,

preliminary data from some of the first studies to use the newest brain

imaging technology, Diffusion Tensor Imaging, revealed structural

irregularities in

the white matter, the part of the brain that ferries the electrical signals

from one region of the brain to another. This is again suggestive of

connectivity problems in the brains of individuals with autism.

Immunology

Another major step forward this year was that IMFAR hosted its first

symposium examining the relationship between autism and the immune system.

Croen, Ph.D., a researcher with Kaiser Permanente, reported that some

autoimmune

diseases such as food allergies and rhinitis are co-morbid conditions in

autism, and , Ph.D., professor of biology at the California

Institute of Technology, demonstrated that maternal infection, which results in

the

elevation of cytokines in the fetal environment, may be a risk factor for

developmental disorders. The activation of neuroglia in the brain of autistic

patients was discussed by Pardo, M.D., from s Hopkins University,

pointing to a role for the innate immune response, though this role is still

undefined and requires additional investigation. , M.D., from

the University of Medicine and Dentistry of New Jersey, presented preliminary

research which found that certain MHC class II molecules may be risk factors,

but which interestingly appear to act on the mother rather than the child

with autism. Other data discussed at this exciting symposium involved studies

on

the adaptive immune response, and how the results of such studies have been

variable. The symposium presenters concluded that the full range of immune

functions in individuals with autism is one area that absolutely requires

further exploration to determine any contributions to the condition.

Neuropathology

Christoph Schmitz, M.D. at Maastricht University in the Netherlands and

Jerzy Wegiel, Ph.D. at the NY Institute for Basic Research presented the first

results of a multiyear neuropathology study termed the Brain Atlas Project.

Autism Speaks' Autism Tissue Program (ATP) began the Brain Atlas Program in

2002

with the objective of deciphering the neuropathological features of autism

in multiple brain areas in order to provide us with important missing

information about how autism impacts brain structure. Initial results reported

by the

investigators revealed substantial brain cell size differences according to

the age of the donor. The youngest brain donors with autism (age 4-7) had

smaller neurons by up to 43% in certain brain regions compared to older donors

with and without autism. The investigators also reported preliminary findings

on the fusiform gyrus, the site of face processing in the brain, which

imaging studies have shown to be less active in individuals with autism than

control subjects. So far using 7 postmortem brains from patients with autism

and 10

controls, they have found significant reductions in neuron densities that in

theory could anatomically account for the abnormal function found in this

brain area.

The Brain Atlas Project will continue through 2009 until all regions of 28

donor brain hemispheres have been analyzed. The ATP Tissue Advisory Board

members attending the meeting urged the autism community to support brain

donation to further the exploration of brain development. Family members and

unaffected individuals are encouraged to register to be brain donors as well and

can

get more information at _www.autismtissueprogram.org_

(http://www.autismtissueprogram.org/) . An important step in this direction was

the launch of the UK

brain donation program to complement the one in the U.S. " Research is

finally coalescing to provide testable hypotheses that can bring us to a

biological

understanding of autism, " concluded Sophia Colamarino, Ph.D., VP of Research

for Autism Speaks.

DIAGNOSIS

Baby Siblings Research Consortium

Several investigators studying infant siblings of children with autism met

prior to IMFAR to discuss their findings on early identification and new

methods for treating at risk infants. Mark , Ph.D., Mayada Elsabbagh,

Ph.D., and Geraldine Dawson, Ph.D. led a workshop titled " From Neuroscience to

Intervention: Progress in the study of infants at-risk for autism. " Scientists

discussed new approaches to detecting the first signs of autism in infants

using eye-tracking methods, structural and chemical brain imaging and

electrophysiology. It was noted that infant sibs who go on to develop autism

are more

likely to exhibit acceleration in head growth starting at about 4-6 months.

Infants with this unusual head growth trajectory often exhibit behavioral

symptoms emerging at about 8-10 months, which include a failure to respond to

name, distress reactions, passivity, a lack of eye contact and communicative

babbling, and poor imitation skills.

The workshop also focused on new approaches to early intervention with

infants and toddlers who exhibited emerging signs of autism. Although several

different approaches were highlighted, most of these interventions shared

certain

common features. Most were parent-delivered and focused on facilitating

early social-communicative skills within an affectively-rich parent-infant

interaction. The hope is that by identifying infants at risk and providing

early

intervention before the onset of the full syndrome, autism symptoms can be

reduced or even prevented.

During IMFAR, eleven sites of the Baby Siblings Research Consortium (BSRC)

reported in further detail their combined findings on the head growth

trajectory of 761 high-risk infants (with an older sibling with a confirmed

diagnosis

of ASD) and 400 low-risk infants (no family history of ASD). In addition to

such collaborative projects, members of the BSRC each also presented

preliminary data on baby siblings from age 3-9 months of age. Researchers are

using

sophisticated analysis of eye tracking data and analysis of specific

neurophysiological measures to interpret very early changes in attention,

including

shifting of attention and joint attention. In fact, a few researchers referred

to the effect as " sticky " attention, as they discovered there are subtle

differences in the duration of the gazes away from the mother's face in a

scene.

Some of the differences are seen in children " at risk " for autism, regardless

of diagnosis, and further research will better determine if these early

signs may be indicative of ASD or part of a genetic liability.

Motor reflexes

Many parents have questioned whether, in hindsight, unusual motor activity

may have been one of the earliest indications of their child's disability. A

group led by Carole Samango-Sprouse, Ed.D. from Washington University

is exploring whether early motor tone, as measured through a standard test of

primitive motor reflex known as the head tilt reflex (HTR), can be used to

accurately identify infants with neurodevelopmental disorders when coupled with

the accelerated head growth already described. Their goal is to increase the

likelihood that doctors can easily spot infants at-risk for an ASD or other

neurodevelopmental disorders during well-baby medical checkups.

The HTR is an extraordinarily simple exam designed to test the reflex

normally developed at 9 months of age which maintain one's head vertical when

tilted off midline. The researchers tracked infants that failed to develop the

HTR

and who underwent unusual acceleration in head growth during the first year

of life. Out of 216 babies screened, 21 infants were flagged for " at risk "

status due to these two criteria and were given full neurodevelopmental

evaluations. In none of these cases did the parents or pediatricians have any

previous suspicions. Their preliminary data suggests that the combination of

increased head circumference and HTR may be an indicator of possibly both ASD

and

developmental language disorders. Given the nature of the test (quick, easy, a

very early indicator, and at no extra cost to the doctors or parents), the

investigators are continuing to pursue whether the " tilt test " and acceleration

in head circumference may provide early " biomarkers " for a subgroup of

infants at risk for developing autism or other neurodevelopmental disorders.

Interactive Autism Network (IAN)

Other current research for assessing the special needs and interests of

children with autism, and parental experiences raising a child with autism,

utilizes the internet and web-based methods. The Interactive Autism Network

(IAN;

_www.IANproject.org_ (http://www.ianproject.org/) ), developed by a team at

Kennedy Krieger and funded by Autism Speaks, is collecting information online

from families of children with ASDs throughout the U.S. The team illustrated

the breadth and depth of their data by presenting on a variety of key autism

research topics, each based on information by IAN families. Through this,

autism researchers learned about resources IAN can provide to facilitate their

crucial work. These free resources include access to the IAN dataset (currently

containing information shared by families of over 8,000 children with an

ASD); the launch of a new online community and workspace for autism

researchers;

and assistance finding qualified participants for researchers' local

studies. With the exception of subject recruitment, which is offered only to

U.S.

researchers, these services are available to autism researchers throughout the

world. Many international researchers at IMFAR learned about IAN for the

first time and expressed an eagerness to access IAN data for their own

research.

TREATMENT

Not long ago, autism was thought not to be treatable. Many parents were told

there was very little that could be done to change the course or outcome for

their child diagnosed with an ASD. Fortunately, this is no longer the case

as evidenced by numerous presentations given in the area of treatment and

intervention.

Treatments for autism generally fall into two categories, biomedical and

behavioral, and can vary by country. Some of the biomedical treatments

discussed

at this year's IMFAR included pharmacological, complementary and alternative

medicine, and dietary interventions. Behavioral studies covered such diverse

topics as theory of mind training, vocal imitation training, sleep hygiene

education, pivotal response and discrete teaching methodologies, and social

skills training. One discussion presented a retrospective analysis of cases in

which children with autism achieved recovery status (lost their original

diagnosis of autism). With new groups forming to address the medical aspects of

autism (such as the Autism Speaks Autism Treatment Network and Clinical Trials

Networks), it is anticipated that more research will become available

targeting specific symptoms associated with autism.

Family Services

As the population of adolescents and adults with autism is rapidly growing,

more researchers are beginning to explore issues that affect older people

with autism including puberty, sexuality, substance abuse and social

relationships. Researchers from North Shore Long Island Jewish Hospital

discussed their

employment of visual supports, role play, cartoons, social stories, and video

modeling in weekly group sessions. Issues regarding sexuality, development,

hygiene, safety and dating behavior were addressed in groups of adolescents

with autism, as well as in groups of parents, resulting in improved comfort

for the participants in discussing these sensitive topics and achievement of

personal goals such as learning to set boundaries. Research is ongoing in terms

of further curriculum development and evaluation.

Several researchers also addressed educational issues such as teacher

training and integrating students with autism into a general education

environment.

Expanding the quality of evidence-based research in service delivery is a

critical need and several researchers presented their initial findings on the

efficacy of specific community-based service programs. Some researchers are

now studying ways in which families access services and the strategies they use

to get them. Another theme among the service research presentations included

evaluations of autism resources including materials for parents of newly

diagnosed children and comprehensive treatment programs. Researchers explored

the use of technology-related products to aid in the delivery of services.

Technology

One exciting theme that received increased attention this year was the many

ways technology can be used to provide novel forms of assessment and

intervention. Researchers from the U.S., U.K., Germany, Greece, and Israel

presented

findings on many new technology-related innovations. Highlights included a

diverse set of computer software applications created to assist those impacted

by autism. These ranged from interactive visual scheduling systems to a

variety of video games that were developed for assessing and enhancing

cognitive

strengths and weaknesses, improving face processing and emotion recognition,

and assessing and teaching language. Personal digital assistant (PDA)

technology was explored in teens with autism to teach flexibility, feelings and

sensory states. Other presenters showed detailed virtual reality platforms

specially developed to study how children with autism respond to increasingly

more

complex visual environments, with hopes that such carefully regulated

environments may ultimately be used to understand and reduce sensory overload.

New

research is also beginning to focus on how robotic therapists and 3D virtual

peers can be used to teach affective language intonation and make social

communication more motivating for this population. These burgeoning and

innovative

uses of technology carry great promise for accelerating and enhancing the

pace of autism research and treatment in the years to come.

PROGRESS AND THEMES

The most often repeated theme to this year's IMFAR meeting was the

incredible amount of recent progress the field of autism has made. This

sentiment was

echoed perhaps most eloquently by the recipient of the 2008 Autism Lifetime

Achievement award, Isabel Rapin, Ph.D., a pioneer of autism research whose

career has extended almost the entire history of autism. Dr. Rapin was praised

by her colleagues for her several lifetimes worth of achievements for autism.

In her acceptance speech, Dr. Rapin reflected upon the 60 years since autism

was first clinically described and provided commentary about how our

understanding of autism has changed and grown during her career. From the

initial

psychological theories, to the advent of genetic research, through the

explosion

of information about brain function from imaging studies, she credited most

of the advances in our understanding of autism to the rise of the many

unforeseen technological advances exhibited at the meeting.

As a fitting close to an extraordinary week for autism, Autism Speaks UK

organized a reception for researchers, parents, and legislatures at the House

of

Commons, hosted by Janet Dean, MP, chair of the All-Party Parliamentary

Group on Autism. Autism Speaks U.S. was represented at this special event by

Mark

Roithmayr, President; Glenn Tringali, Executive Vice President of

Fundraising and Development; Sophia Colamarino, Vice President of Research, and

Dana

Marnane, National Director of Communications and Marketing. Autism Speaks UK

Chief Executive Gilfoy addressed the group highlighting the great

strides being made in research around the world and in the UK, including the

breakthroughs achieved by the Baby Siblings Research Consortium and the Autism

Genome Project. Gilfoy's overall message to the crowd was one of hope. " Only

two

years ago, the honest answer to the question 'What causes autism?' was 'We

don't know,' " said Gilfoy. " Now we can say that we have explorable hypotheses

and interventions to respond to the first signs of autism. "

" Having a forum where scientists, clinicians, and parents from around the

world can congregate and share findings and perspectives has really helped move

the field forward, " remarked Autism Speaks' Geraldine Dawson, Ph.D. " There

is an openness to exploring many different possible causes of autism,

including both genetic and environmental factors, and an increasing emphasis on

new

treatments. People from around the world are joining together to accelerate

the field of autism research. It was wonderful to be a part of it. "

____________________________________

View a recap of IMFAR day one, Thursday, May 15 _here_

(http://www.autismspeaks.org/science/science_news/imfar_2008_day_one.php) .

View a recap of IMFAR day two, Friday, May 16 _here_

(http://www.autismspeaks.org/science/science_news/imfar_2008_day_two.php) .

View a recap of IMFAR day three, Saturday, May 17 _here_

(http://www.autismspeaks.org/science/science_news/imfar_2008_day_three.php) .

View the full press release for IMFAR 2008 _here_

(http://www.autismspeaks.org/press/imfar_2008_annual_meeting_highlights.php) .

To read individual abstracts, please visit:

_http://imfar.confex.com/imfar/2008/webprogram/start.html_

(http://imfar.confex.com/imfar/2008/webprogram/start.html)

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