Download forward look and review of autism

MRC Autism Forward Look and Review
1.0 Aim and background
1.1 The rationale for the Forward Look and Review
The rationale was partly to revisit the MRC’s previous Autism Initiative (see
Annex 1). However, it was also considered timely to take a forward look at
research priorities and opportunities in the autism spectrum disorders (ASDs). It
was hoped that by taking a realistic forward look at the tractable questions that
future research might address, that this would be of value in updating the public
on recent progress in autism research.
A major part of the Forward Look was a workshop held on 15 January 2009 at the
Melia Whitehouse Hotel in London. (more details of this workshop are at Annexes
2 and 3). The report of the Forward Look was subsequently postponed while the
MRC-led a major review of mental health on behalf of all public funders of mental
health research in the UK. The Autism Forward Look informed that report (and
vice versa) and Autism Speaks contributed (as did many other stakeholders) to
the Review of Mental Health Research which has been published on the MRC web
site at www.mrc.ac.uk/mentalhealthresearch
1.2 Features of autism
Whilst it is well known that autism involves impaired social communication,
language impairment and repetitive, stereotyped interests, it is still unknown as
to whether this constellation of impairments is inherent in a cohesive syndrome
(usually called Autism Spectrum Disorder or ASD) or whether it is an artifact of
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diagnostic practice. There is association with intellectual impairment (albeit
within a wide IQ range) and with epilepsy in about a quarter to a third of cases
(with onset typically in late adolescence). Like many neurodevelopmental
conditions, for example, ADHD and dyslexia, autism is characterized by a marked
male preponderance (circa 3 or 4 to 1).
While some autistic individuals achieve considerable independence and autonomy,
many remained severely handicapped and have virtually no contact with the
outside world. It is rare for autistics to make love relationships, to marry and
have children. The worst outcomes are for those who have not gained spoken
language by 5 years of age and have a low IQ.
Psychologically, autism has been described as an impaired ‘theory of mind’ skills
(in essence autistic subjects can not see situations from any other perspective
than their own. This is preceded by earlier impairment in imitation and joint
attention (the process by which one alerts another to a stimulus via nonverbal
means, such as gazing or pointing). There is also a lack of central coherence (the
ability to see the ‘big picture’ and the ability to plan). Unlike other mental health
problems, there is usually only a very limited response to attempts at
psychological and behavioural therapy.
Other features of autism that have emerged from research include:
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Association in scientific terms infers a cause but it is not proof . For example, the association could
be ‘secondary’ that is that autism itself is the cause of the observed effect, not the other way round.
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the fact that it is partly heritable and that this is at least partly due to an
increased rate of Copy Number Variations2.
that there is no localized brain abnormality although sophisticated brain
imaging techniques combined with psychological experiments in autistic
individuals do suggest that there is some impairment across ‘brain
systems’.
raised serum serotonin levels in about one third of cases of autism
although there is no therapeutic response to attempts to regulate this
2.0 General points raised and conclusions from Forward Look
2.1 MRC strategy and portfolio (overview)
Autism has been an MRC priority for research since 2001. At that time there was
concern about the higher prevalence of autism than had been previously
recognised and there were public concerns about a possible relationship to
immunisation and bowel disorders. This led to the MRC review of Autism
“Epidemiology and Causes”. Since then, autism research has focused much more
on the aetiology and risk for autism and research has become more enmeshed in
the neurobiology of complex brain disorders. It was agreed that was the correct
approach.
Except for the Autism Initiative, MRC does not ear-mark funds for autism and
researchers can submit in response mode to all of MRC schemes. MRC strategy is
to encourage ASD researchers to link with expertise in conjoint disciplines and
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work with partners such as Autism Speaks to encourage the development of
competitive proposals. However the number of applications submitted remains
low despite evident strengths in this area.
With the relatively small number of active autism researchers in the UK, it is
impossible for the UK to address every question in autism research. However
when viewed in the context of the whole MRC portfolio of mental health research,
autism research seemed to be doing well and better than other
neurodevelopmental disorders. Out of a total MRC research spend of £579m in
2007/08, the financial commitment to autism research had been £2.26m. This
had increased by £0.56 m on the previous year. The total value of the 18 major
autism grants awarded between 2000 and 2007) was £8.9m*. Just over 1 in 5
applications submitted were awarded – which was not dissimilar to the award rate
for all grant applications.
The research funded by MRC naturally had mostly long-term relevance to policy
and practice in that the MRC mostly supported well-designed studies to
understand the biological basis of autism. It was stressed by those attending the
Forward Look workshop that this remained an important goal. The reason for this
is that we know already that the developing brain is altered in autism and we
have some knowledge about how, but we do know what causes these changes.
Given that one stimulus for the increase in autism funding by the MRC was the
controversy provoked by the studies published by Andrew Wakefield, it was
interesting to note that none of the current projects funded by MRC dealt with the
issue of immunizations and autism. This remains a contentious issue in the UK for
2
Copy number variations are microscopic changes in the DNA sequence that can be found within
genes. They can be inherited or arise spontaneously by mutation . It is thought that possessing certain
CNVs in a chromosome could put the developing child at risk of being on the autism spectrum.
3
In the UK, the UK-arm of Autism Speaks has become a new charity; ‘Autistica’.
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some parents but had become a much bigger issue in the United States where
there were calls for more funding to address the parental concern that has its
origin in the Wakefield publications. Academic scientific interest had waned in this
area in the UK and the very few proposals submitted to MRC in this field had all
been declined. MRC agreed to work with any applicants in terms of a study
coming forward in this field in recognition of the remaining public concern about
this issue.
Delegates at the Forward Look workshop were struck by the fact that the MRC
receives few grant applications for autism studies. Given the rapid developments
in the field of animal models and neuroscience, it was considered worthwhile to
see how the MRC could encourage more neuroscientists to study autism and
apply for grants for research relevant to autism. The MRC had achieved a lot in
terms of encouraging collaboration within autism researchers but there was still
further work to be done in engaging those in conjoint neurobiological disciplines.
Delegates agreed that there was a need to reach out and bring new scientists into
the field either through studentships or perhaps junior fellowships. This could also
be of value in studying other mental health conditions and learning and
intellectual disabilities. It was noted that this might be an issue for the general
field of mental health research that was likely to be addressed in the mental
health research review.
In respect of comparisons with the US and Canada, the majority of the funded
projects in North America focused on animal models, immunology and geneenvironment interaction. Computational biology was also a burgeoning field (e.g.
pathway-based genetic studies). In the UK, distinctive strengths were apparent
in population-based studies and genetics.
2.2. The need for large resources and shared infrastructure
From the autism researchers' perspective, large shared resources were needed to
tackle the challenges of the heterogeneity among individuals with ASD and
because assembling large cohorts of autistic subjects was particularly
challenging.
There are a number of registries and cohorts in existence that could be explored
further, for example, the IAN Project at Kennedy Krieger Institute that is funded
by Autism Speaks and the US NIH’s National Database for Autism Research.
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Registries focused on severe mental illness were being considered in the UK and
having a resource based on NHS contact with the general population was
particularly attractive in overcoming ascertainment bias. Improving the
availability of human brain tissue for research, such as through the UKCRC (MRCled) Brain Banking Initiative should also advance research progress. Projects such
as the Autism Genome Project, the Infant Sibling Network, and the Autism Tissue
Bank are also potentially valuable assets in moving the field forward. An
interesting suggestion was the notion of a brain image repository so that the rich
wealth of information coming from such studies could be pooled. There might also
be an opportunity to attract leaders in brain imaging at the most advanced
4
Since the workshop that formed the cornerstone of this Forward Look, the MRC has completed a
review of mental health. It was recommended that the UK could take a strong international lead in
developing a registry of well phenotyped individuals along with biological data so that aspects such
as the effects s of environmental risk factors and comorbidity could be untangled by using the power
of large numbers
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imaging centres in the world to join the effort to move the investigations of
autism forward.
It was suggested that funders might explore whether data collection and storage
could be centralized. Autism Speaks also suggested exploring the possibility of
networking researchers within the field through online resources and allowing the
dissemination of findings through science community websites.
2.3. Interventions and treatment
There was particular interest in the early intervention work presented at the
Forward Look workshop. Apart from the obvious benefit in controlling the most
deleterious effects of symptoms before they develop, developmental disorders
such as autism exhibit initial symptoms that can be compounded by atypical
interactions with the environment and other people. The mother-child interaction
in the first year of life was considered crucial especially as there is on average
over 1,000 hours of face-to-face social interaction in the first year. Intervention
programmes were being developed for young children who had already been
diagnosed, but interest and excitement was generated around the feasibility of
devising interventions for babies at-risk, or those that show early warning signs.
Complementary research to the UK-based early intervention work was ongoing in
the US, funded by NIH.
During the Forward Look there was some debate over whether ‘curing’ autism
was a very ambitious aim, even in the medium-term (next 5-10 years). Some
argued that it was more realistic and reachable to develop better interventions to
improve the quality of life of those affected by autism within the next five years
or less. Already we have the knowledge to identify those at highest risk and
predict at just two months old, half of those going to develop autistic deficits. All
the evidence pointed to better outcomes being achieved when the intervention is
early, in particular, before symptoms developed. Therefore preventive strategies
probably had more to offer at the moment rather then curative approaches,
although this would be controversial viewpoint for some.
2.4 Genetics and the interaction with the environment
The MRC, together with Autism Speaks, had funded the first international
molecular genetics studies of autism, and UK researchers such as Professors
Monaco and Plomin continue to be regarded as world leaders in the field. Autism
genetics should remain a priority given these existing strengths. Regarding the
huge international effort to find ‘risk genes’ particularly through the Autism
Genome Project, two factors had been instrumental to this goal. One was the
ever improving genetic technology and the other was the recruitment of large
numbers of subjects. There now existed an opportunity for statistical analysis
using large computers to analyse the huge amount of genetic information to allow
segmental analysis of genotype against phenotype, imaging data, natural history
and outcomes of intervention. This would require recruitment of basic science
leaders in bioinformatics to work together with clinical experts in autism. Clearly
the Autism Genome Project was a paradigm example of a successful international
coalition.
Despite the advances in genetics, autism clearly came about because of the
interaction of genes with environmental triggers. Research progress was limited
by the relative paucity of knowledge about the role of environmental risk factors
and how to combine them with genetics into a single paradigm that explained
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how the two interacted to cause the problems associated with the autism
spectrum. Research into the role of environmental risk factors did not figure
significantly in the UK (other than one or two notable exceptions). There was no
doubt that genetics had seized upon a raft of coincident opportunities, but the
challenge remained for the research community to bring the environmental
component into line with the advances in genetics and to start the complex
process of unpicking the pathways that lead specifically to autism from within the
plethora of neurobiological mechanisms. The emerging knowledge from genetics
about the gene products involved, ought to provide new insights into both the
aetiology and the links between autism and a range of disabilities.
2.5 Interdisciplinary research
Clearly all areas of mental health research were dependent on interdisciplinary
research. The Forward Look recognised that interaction among different
disciplines should be encouraged at all levels, including the design of fellowships.
Also important is collaboration between basic scientists and clinicians. Such
collaboration is not only necessary for the translation of basic science findings
into clinical practice, but also for the fertile opportunity for discovery that clinical
practice provides. Scientists studying ASD on a macro level should be
encouraged to talk with those studying ASD at a molecular level.
Interdisciplinary collaboration should be encouraged through interdisciplinary
workshops organized around a specific topic, through initiatives that focus on
interdisciplinary studies, and through grant application mechanisms that solicit
interdisciplinary proposals.
It was noted that neuroscience and developmental biology continued to be UK
strengths but the ‘cross-talk’ between these fields and autism research needed to
be facilitated. This was a criticism that could be levelled at all mental research
however.
2.6 Building the capacity of autism research to deliver innovation
Given the number and young age of the scientists now attending the International
Meeting for Autism Research (around a 1000 and up three fold approximately
over five years), there is clearly an increasing number of young people entering
the field from all over the world. However, increasing innovation was key and the
funders needed to consider how best to encourage both young and established
researchers to acquire a broad experience in different methods and environments
given the demanding nature of the challenges of studying autism.
2.7 Working with stakeholders
It is increasingly appreciated that a strong collaborative relationship between
academia, non-profits, and for-profits organizations is essential for rapid drug
discovery and dissemination. Such relationships might be facilitated through
sponsored forums and other methods for enhancing communication between
academia and industry (conferences) as well as co-funding of projects. Delegates
at the Forward Look workshop also emphasised that to date, most drug studies in
autism have focused on psychopharmacologic agents which do not target the core
deficits of autism. Therefore, autism could be of interest to companies targeting
the cognitive deficits of dementia that may be closer to those underpinning
autism.
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Other key stakeholders in autism research in particular include the public and
users (most often concerned parents). It should be important for researchers to
involve community stakeholder representatives during the experimental design
process and in considering what the optimum outcomes should be from a putative
intervention (i.e a real-world outcome like getting a job and not just improvement
on a clinical rating scale). One recommendation from the Forward Look was to
encourage researchers to hold focus group meetings for stakeholders to provide
their perspective on the value, prioritization, design, and implementation of
research. MRC remained committed to increasing public and professional autism
awareness in the UK and when the opportunity arose, to join in campaigns with
mental health charities and parent organisations to reduce stigma.
2.8 International perspective and collaborative opportunities
There were a number of areas where North American and UK scientists could
collaborate. This was already in progress in the area of genetic and
environmental risk factors and the development of behavioural/psychosocial
treatments that will be of immediate benefit to individuals with ASD. A future
area where Autism Speaks and MRC agreed to work together was on the need to
disseminate ethical and empirically-validated methods for screening, diagnosis
and treatment to the community, when such tools became available. The
translation of genetic findings into screening and diagnostic assessments will be a
logical and exciting next step for the Autism Genome Project. It was important to
emphasise however that gene-based diagnostics were some way off – maybe 3 or
more years. That which was currently being marketed was of little value.
Translational work such as the development of novel assays for drug discovery
and testing of drugs in animals and humans was another area that would benefit
from encouragement and where the UK could contribute.
2.9 Future areas for research
A long list of vogue questions for researchers was drawn up reflecting the wideranging discussion at the Forward Look and the complexity and breadth of the
field. These included:
exploring further collaborative comparative international epidemiological
research to exploit genetic and environmental differences and more
exploration of intersections among various approaches and disciplines
should be encouraged. For example, correlation of data from genetic,
environmental and neuroimaging studies.
whether developmental perturbations (such as CNV, chromosomal
anomalies or minor congenital anomalies) had an effect
•
exploiting the knowledge from genetics
•
exploring the feasibility of translational research by utilization of recent
discoveries of biochemical pathways affected by autism risk genes to
identify target molecules for drug discovery
identification of preclinical biomarkers of risk for ASD
exploring the physiological and neurophysiological mechanisms underlying
cognitive building on the UK strengths in cognitive psychology
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intervention research where there was limited work in the UK and
particular how to intervene to ameliorate the symptoms of autism, for
example, improving parent-child communication
•
understanding the diversity of the autism spectrum. As in the US, UK
researchers should be encouraged to investigate the causes and
treatments of medical co morbidities associated with autism, e.g. epilepsy,
sleep difficulties, mental health problems such as ADHD, anxiety and
depression
•
stronger collaboration between BASIS partners in the UK with the US Baby
Sibs Research Consortium and identification of other European partners
was encouraged.
•
whether there was some physical hazard in utero or in early infancy that
increased risk for autism
•
as in the US, UK researchers could be encouraged to investigate the
causes and treatments of medical comorbidities associated with autism,
e.g. epilepsy, sleep difficulties, mental health problems.
•
there remains a need to conduct more research on individuals with ASD
and learning difficulties (LD). MRC could look to show leadership in this
area to encourage UK researchers to explore methodologies that are
appropriate for this group.
•
lastly and not least, there remains a need to conduct more research on
individuals with ASD and learning difficulties. MRC could look to show
leadership in this area to encourage UK researchers to explore
methodologies that are appropriate for this group.
3.0 Summary
It was generally agreed that autism research was a burgeoning field worldwide.
The research underway in the UK was mostly of an international standard and
autism was a relative MRC portfolio strength.
It was important for the public to be aware of the complex scientific challenges in
addressing a disorder with a constellation of different problems. Immediate hope
of a cure was unrealistic but there was genuine hope of advance in the area of
early intervention to improve the outcome of those affected.
Alongside pragmatic approaches to deal with symptoms, fundamental discovery
research into autism should remain a priority recognising that the ‘pay-off’ was
long-term (maybe more than 10 years). However, progress might be speeded up
by sharing resources and engaging experts in other disciplines. Understanding the
diversity of the autism spectrum was a key objective.
In summary, the main areas for research priority fell roughly into three
categories:
• Intervention research
• The role of Environmental risk factors
• The role of comorbidity and particularly individuals with learning difficulties
In terms of infrastructure for research, the need for investment in bio
repositories, including the support of the newly established Brain Bank in the UK,
was strongly encouraged
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Annex 1
Previous Autism Initiative and subsequent developments
1. Previous Autism Initiative
•
The Autism Initiative was initiated in 2001/2 and funded with £2.75m
Government & Scottish Executive monies, topped up to £3.1m by MRC.
•
Researchers were encouraged to submit research proposals to the MRC,
and in doing so were asked:
o
how the proposals would advance our understanding and treatment
of ASDs
o
how the study would encourage the participation of non-academic
users, such as people with autism and their carers
•
A Steering Group (Chair Carol Dezateux) was set up and awarded 6
proposals. The previous Autism Steering Group agreed that there was an
excellent mix of studies spanning epidemiology, brain imaging, cognitive
phenotyping, non-verbal communication, Asperger’s in adults, and a
psychosocial/educational intervention study. It was noted however that no
work had been funded in relation to the GI hypothesis – either
observational or interventional - which was unfortunate given that this was
an area of unmet need and of high priority to parents of autistic
individuals.
•
MRC also hosted four research workshops through 2002/3, in the areas of
i) gut and the developing child, ii) brain and mind, iii) autism in
populations; and iv) interventions in autism
2. Developments since last autism initiative
•
Autism is a burgeoning field. The main activities have been the
establishment in 2003 of a High Risk Baby Siblings Research Consortium,
the continued funding by MRC and Autism Speaks of the Autism Genome
project, MRC funding of the AIMS consortium and the growth in autism
research at the MRC Social genetic and Developmental Psychiatry Centre.
•
MRC has also made 2 significant awards since the previous autism
initiative to Professor Francesca Happe and Professor Simon Baron-Cohen.
•
The influential charity Autism Speaks has entered into an informal
collaboration with MRC.
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Annex 2
Foreword Look workshop
The Foreword Look workshop was also attended by other autism researchers
supported by the MRC and a range of invited experts and stakeholders in autism
in the UK. The MRC was particularly pleased to welcome.Geraldine Dawson, Ph.D,
Chief Science Officer, Autism Speaks and Professor Gary Goldstein from Rutgers
university. Autism Speaks had become important partners in MRC funding
activities in autism.
In addition to presentations, the workshop briefly reviewed achievements in
autism over the last five years and scoped areas for future development.
presenters provided background on how their MRC-funded research had been
successful in progressing knowledge in autism research and were ask to
speculate about future directions in autism research. Some of their presentations
are attached with this report.
MRC strategy in autism
Professor Christopher Kennard (Professor of Neurology at the University of Oxford
and Chair of the Forward Look) briefly described the MRC Autism Research
Initiative. This initiative was set up by the MRC in the light of the £2.5 million
given by the English Department of Health, and the subsequent £250,000 from
the Chief Scientist’s Office of the Scottish Executive, to take forward the research
recommendations of the MRC Review on Autism: Epidemiology and Causes
(2001).
Autism Speaks strategy
Professor Geraldine Dawson gave an overview of Autism Speaks strategy. Key
goals included the
the discovery of genetic and environmental risk factors and their
interaction
translation of biological findings into clinically useful tools for early
detection, personalized medical approaches, and novel treatment
discovery
the development of behavioural/psychosocial and biomedical treatments
that will be of immediate benefit to individuals with ASD
dissemination of empirically-validated methods for screening, diagnosis
and treatment to the community
Autism Speaks have purblind a strategic plan for booth the USA and UK-based
chariest and these can be seen at
Scientific Presenters
The agenda is at Annex 3.
Professor Tony Charman spoke about the SNAP study looking at individual
differences and outcomes for people with autism. The aim of this study is to
comprehensively characterise the cognitive and behavioural phenotype of a large
sample (N=100) of adolescents with autism spectrum disorders. The aim was to
test predictions regarding cognitive and behavioural subtypes that might inform
future neuroimaging and genetic studies.
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Professor Charman highlighted the need for large collaborative samples because
even in a cohort if a 100, subgroups are difficult to identify in such a complex
spectrum. There was a need to embed cognitive, clinical, and genetic and
neuroscience studies in the same cohorts to maximise payoff, to study
developmental trajectories and develop interventions around learning and
learning environments.
Professor Jean Golding outlined research to assess whether signs and
symptoms related to common health problems in childhood were associated with
ASD. The study was based on the Avon Longitudinal Study of Parents and
Children (ALSPAC; n=14000) started in early pregnancy. Data collected on the
child during the first years of life included signs and symptoms of the
infant/child. The result indicated that the only common sign or symptom
associated with ASD in the ALSPASC cohort was related to middle ear disease
Professor Declan Murphy reported on the U.K. A.I.M.S. (Autism Imaging
Multicentre Study) network. This was set up in 2004 as the first autism research
network in the UK, made up of the Universities of Oxford (Professor Anthony
Bailey) and Cambridge (Professor Simon Baron-Cohen), and the Institute of
Psychiatry. The AIMS project was investigating brain anatomy in autism in order
to try and answer important questions put forward by individuals with autism
spectrum disorders (ASD) such as "is my brain different from other peoples
brains?" and "is that related to some of the things I do?". Profesor Murphy was
also interested in using fMRI to explore functional specialisation for human
vocalisation, in particular: non-speech, environmental, positive (laugh) and
negative (cry) sounds.
Professor Dermot Bowler spoke about his current research interests, focused
on memory in people from the high-functioning end of the autism spectrum. As
Professor Bowler explained thjat when we remember things that have happened
to us, we often have an experience of travelling back in time to re-experience the
place and time of the remembered event. To do this, we need to be able to bind
together particular aspects of our surroundings into a memory of the unique
combination of aspects that make up the episode. Existing research has shown
that people with autism spectrum disorder (ASD) appear to find it harder to
engage in such binding suggesting they have atypically functioning part of the
brain responsible, the hippocampus. Professor Bowler suggested that this
ultimately needed to be tested by brain scanning studies, but before that he was
planning research to provide more evidence about the functioning of memory in
people with ASD and how this related both to their autistic behaviour and their
everyday memory capacities.
Professor Francesca Happe and Professor Patrick Bolton spoke about their
own research and that ongoing at SGDP, This included exploring the coherence of
triad traits in a community-based twin study (TEDs) and investigating various
chromosome 15 abnormalities associated with autism spectrum disorder
Professor Happe argued for the need to measure each triad dimension, not just
global ASD rating and to refine measures for atypical autism and to explore
single-deficit cases. She felt that this did not ‘threaten’ the value of the ASD
concept.
Professor Bolton outlined some of the genetic studies. For example, in
tuberous sclerosis there is a strong association with autism spectrum disorder,
but marked variability in expression. His felt that this was a unique ‘model’ for
testing neurobiological theories of ASD. Various chromosome 15 abnormalities
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had been shown to be associated with autism spectrum disorder, including
duplication of C15q11-13 and copy number variations (e.g. 16p; 22q), He also
highlighted the high & significantly elevated rates of co morbid disorders with
autism, such as hyperkinesias, anxiety, affective disorder, and epilepsy
Professor Mark Johnson spoke about his research into babies at risk for
autism. He argues that research into early onset can get at causal factors. AS
symptoms may be compounded during development, the possibility of early
intervention was very attratavctive but might be an area to focus on in the
sdhort-term rather than a cure. His research had shown that at 2 months half of
those identified as being at risk go onto to develop symptoms.
Professor Simon Baron-Cohen had been testing if foetal testosterone,
measured in amniotic fluid obtained via amniocentesis, is associated with later
psychological and neural development postnatally. He presented data that he
argued showed that foetal testosterone is inversely associated with social
development, language development, and empathy; and that foetal testosterone
is postively associated with systemizing and a number of autistic traits.
Professor Jonathan Green spoke about the ongoing PACT trial. First large RCT
of an early psychosocial treatment in autism. It was a 3 site 2 arms RCT of
PACT/TAU against TAU taking place in Manchester, Newcastle, London. He saw
the goals for research in his area to include an integrated and sophisticated trials
programme addressing change through development (a clinical protocol for
sequenced interventions through development that go further than support by
intervening in core developmental processes). Other important topics for autism
research included understanding the nature of gene brain interaction and
understanding diversity in the autism spectrum. He noted that research on the
role of the gut had been neglected.
Professor Tony Monaco outlined the work of the Autism Genome project. The
curgent work included chromosome 2 and 7 fine mapping studies, genome-wide
association study and CNV analysis. The future directions included the translation
of CNV findings to the NHS and population-based cohort studies. The rationale
was that the role of rare CNVs of large effect in autism susceptibility had potential
benefits for genetic counselling, early intervention for sibs and increased
parental/family understanding for the reason for the disorder affecting them.
They were also considering using ALSPAC to determine whether polymorphisms
identified by AGP also influence communication abilities within the normal range.
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Annex 3
Autism Forward Look and Review:
January 15th: Melia Whitehouse, Albany Street,
Regents Park London, London, NW1 3UP
Agenda
09.00
09.30
09.40
09.40
10.00
10.20
10.40
look
10.40
Registration and coffee
Welcome – Professor Chris Kennard (Chair of MRC
Neuroscience and Mental Health Board)
Session 1 – Strategy, international context and forward Look
Professor Sir Michael Rutter: Autism research; an
overview.
tbd
Professor Geri Dawson, Autism Speaks’ strategic plan for
science
Session 2 – Outputs from previous autism initiative and forward
Prof T Charman
11.00
Professor J Golding
11.20
Coffee
11.40
12.00
12.20
12.40
13.00
14.00
Look
14.00
14.20
14.40
15.00
15.30
Professor Declan Murphy
Professor D Bowler
Professor J Green
Discussion
Lunch
Session 3 – Developments since last autism initiative and forward
Professor Mark Johnson
Professor Simon Baron-Cohen
Professor Patrick Bolton
Tea
Professor Tony Monaco; “Genetics of Autism: Progress
and Future Prospects"
15.50
Professor Adrian Bird
16.10 Session 4 – Forward look
General discussion
17.00
Close of meeting
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