Posts Tagged ‘IMFAR’

Media Highlights From IMFAR

May 12, 2011 10 comments

The 10th Annual The International Meeting for Autism Research (IMFAR) will host nearly 2000 researchers, delegates, autism specialists, and students in the world’s largest gathering of researchers and clinicians devoted to a better understanding of autism.

At the official press conference, scientists discussed key studies to be presented during IMFAR. David Amaral, Ph.D., the President of the International Society for Autism Research, led with opening remarks. Speakers included Eric Courchesne, Ph.D., Antonio Hardan, M.D., David Mandell, Sc.D. and Irva Hertz-Picciotto, Ph.D. Dana Marnane, Vice President of Awareness and Events at Autism Speaks, moderated the conference.

This video was shot by Alex Plank and the Wrong Planet crew.

• Geraldine Dawson, Ph.D. became Autism Speaks’ first chief science officer in January of 2008. In this role, Dr. Dawson serves as the scientific leader of Autism Speaks, working with the scientific community, stakeholders, and science staff, to shape, expand, and communicate the foundation’s scientific vision and strategy. Dr. Dawson presented the Autism Speaks strategic plan on the second day of IMFAR. She also took the time to be interviewed by Wrong Planet’s Alex Plank.

• Autism Speaks Science Board member John Elder Robison, author of Look Me in the Eye: My Life with Asperger’s and Be Different: Adventured of a Free-Range Aspergian, is reporting from IMFAR. You read can his blogs herehere, and here.

• 2011 saw a new approach for Autism Speaks’ Innovative Technology for Autism (ITA) initiative with the running of a student design competition called Autism Connects. The design brief was pretty straight forward: to create technology design ideas for individuals with autism to better connect with the world around them, and to allow individuals who do not have autism to better understand and connect with those who do. You can find out more about this program here.

•  David Mandell, Sc.D. conducted a study, ‘The Effect of Childhood Autism on Parental Employment,’ which was covered by ABC Los Angeles, in the clip below.

•  New research is coming out of the International Meeting for Autism Research, includes ‘Adults with autism face health problems with age.’ For the full article, visit here. The clip below is from ABC Los Angeles.

FOX 5 San Diego also covered IMFAR, where Shannon Des Roches, who blogs at Squidalicious, is featured.

• The Fly: into Autism crew was in attendance and performed some of their hit songs.  FLY reflects and honors the diversity of its inspiring voices with an eclectic blend of rap, punk rock, ballads, soul, even Broadway. It boldly opens ears, eyes and hearts to the miracles of autism.

Video Credit: John Robison 

• Alex Plank caught up with Clara Lajonchere, Ph.D, the Vice President of Clinical Programs for Autism Speaks.

Making Friends

May 11, 2011 6 comments

This is a guest post by John Robison, author of Be Different and Look Me In The Eye.

I’ve just come from a morning at the Parents/Families/Community conference that’s associated with the big IMFAR autism science meeting. The conference moves around every year (some of the scientists have a reputation for getting wild) and this year we’re in San Diego. I flew in late last night just in time to sleep three hours and get up bright and early for the cab ride to the University of California at San Diego.

As long as I remain functional, I will be reporting on events here and at the main conference for the next three days. In addition, I hope to visit the San Diego container terminal and perhaps capture novel and exciting images of shipping and transportation.

As much I love ships and trains, I recognized my commitment to autism science and dutifully appeared where I was supposed to be, before I was supposed to be there. I was just in time for the keynote sessions, which I found totally fascinating.

The first talk I’d like to share with you concerned a program called PEERS, which was developed by Liz Laugeson, Psy.D. and Fred Frankel, Ph.D. of UCLA, and presented by Liz at this morning’s session.

PEERS is a science-based program that helps kids make friends. I say its science based because she actually tested and proved out the various concepts in PEERS through trials. By doing that, she was able to quantify what worked and what didn’t.

And that, folks, is a really important thing in the world of therapy.

Most therapists who work with folks on the spectrum do not have autism themselves. Therefore, things that may seem obvious to them may be totally obscure to the folks they are trying to help. Consider the example of a teen who has trouble getting into conversations with strangers.

A person who does not have autism instinctively reads the non verbal signals from people around him. He knows when to speak up and when to be quiet, and he knows how to join a conversation smoothly. At least, that’s the idea. A therapist who grew up with those skills naturally assumes everyone else is similar. That being the case, conversational skill is simply a matter of polishing one’s skill.

Unfortunately, for most autistic people, “polishing” does not work. We lack the ability to read other people, so “watching and slipping in smoothly” is not something we can do at all, without special training and a lot of practice. Yet that deficiency may not be at all apparent to a nypical therapist, even after he’s studied autism. Therefore, the advice that worked for him may totally fail for us, and he may not have any idea why, except to say “we just can’t get it.”

That’s where science and evidence-based therapy development come in. Researchers can try different ways of helping people solve problems, and then measure how well that training works in real life. By testing different strategies, it becomes possible to separate what works from what doesn’t, and to refine what works well into what works better. That is what Drs. Laugeson and Frankel have done with PEERS.

I could cite example after example from the book, but frankly, if you have a personal stake in helping people make friends, I urge you to buy the workbook. It’s written to do group therapy for high school students but it’s immediately obvious to me that the concepts can be used for self-study and even for Asperger adults. I mentioned that to Dr. Laugeson and she agreed but was quick to point out that the work had not been validated yet in adults.

So if you’re an adult Aspergian, or you know one… you can be among the first to try these ideas out. Let me know what you think.

The PEERS workbook is in many ways a clinical version of my “Be Different” book. In that book, I talk about the strategies I’ve used to find success, and how I made the most of my autistic gifts while minimizing my disability. What PEERS does is take those ideas to the next level.

I wrote about making friends from the perspective of my own success as a person with Asperger’s. PEERS approaches the same problem but from the perspective of many young people with autism, not just me.

PEERS was developed with funding from the National Institutes of Health. To me, it’s a great example of the kind of research we should encourage in the autism community. This is work that will be of tremendous benefit to many people growing up with autism now.

Over the next few days, I’ll be looking at all sorts of research. I’ll see work from biologists, geneticists, psychologists, neurologists, and psychiatrists. I’ll even be looking at studies from public health people and statisticians. Stay tuned as I report on highlights to come… after I walk over the check out the container terminal

You can find the book on amazon “Social Skills for Teenagers with Developmental and Autism Spectrum Disorders: The Peers Treatment Manual”

Brain Tissue Research Innovation Wins Top Award at IMFAR

June 28, 2010 3 comments

This is a guest post by Autism Speaks staffer Jane Pickett, Ph.D.

The 10th annual international gathering of autism scientists, researchers and advocates, known as IMFAR, (International Meeting for Autism Research), was held last month. At the meeting, the prestigious Slifka/Ritvo award for research innovation went to a project using post mortem brain tissue to help researchers using MRI on living subjects to define boundaries between various brain regions. This research is important because every brain is a little bit different and we need new tools to accurately compare brain areas across individuals.

Drs. Thomas Avino and Jeffrey Hutsler at the University of Reno tackled the problem of defining the border between brain cells making up the ‘gray matter’ and the ‘white matter’ located in the center of the brain) by examining brain tissue of donors to the Autism Tissue Program.  Their project, ‘Quantification of the gray/white matter boundary in Autism Spectrum Disorders’, assessed 3 brain regions in 8 males with autism and 8 age- and sex-matched control donors.

Control brain

Autism brain

The images at the left mark the location of neurons in the lower cellular layer of the cortex, Layer VI, and also the white matter below it.  The image (left) of an unaffected donor shows a typical transition zone; the autism brain specimens have a poorly defined zone, with the cell bodies of neurons spilling into areas where they are not expected to be.  Looking directly at brain cells, it is easy to understand the MRI reports of ‘poor distinctiveness’ between cortical gray and white matter and now imaging researchers have a mathematical model to consider in their assessments of gray/white matter as they study brain development in children with autism.

Independent examination of other autism brain samples by post doctoral student Adrian Oblak from Boston University School of Medicine also showed many neurons atypically located in white matter. More specifically, these neurons were found in the cortex involved in emotion and memory process and face processing.  Microscopic images of marked cells in this area, the posterior cingulate gyrus, show cells on the right, in the autism brain, massing into the white matter.

Why is this important in today’s autism world?  Years of study of the developing human brain show that at embryonic brain cells begin to ‘climb’ up to the cortical surface and by 5 months gestation virtually all are located above the new myelin-dense ‘white matter’.  A delay in this migration during the second trimester of pregnancy is thought to be caused by a lack of proper cell signaling due to a genetic and/or environmental impact on the developing brain.  What is important is that this change in brain structure is seen into adulthood in brains of donors with autism; therefore, further research of brain cell architecture, combined with brain tissue genotyping, will reveal more about changes occurring during the development of the central nervous system.  The correct configuration of the cortical cell layers is crucial for further maturation and functionality of the brain.  A number of coordinated events need to occur for this early development such as proper signals for cell birth, migration, maturation and final proper distribution of new brain cells.  Genes that guide these events are becoming better understood (read about a new genetics study).

What does this have to do with you?  None of this research is possible without brain donation.  If you are interested in learning more about the Autism Tissue Program, or registering you and your family with the program, please visit our website at, email us at or call 1-877-333-0999.

The Search for Environmental Influences on Autism Risk Expands at IMFAR 2010

June 10, 2010 4 comments

As the emphasis on a role for environmental factors in autism continued to grow at this year’s International Meeting for Autism Research (IMFAR), so did the list of candidate environmental risk factors under study. Among the many factors discussed at the meeting were hazardous air pollutants, assisted reproductive technologies, medications given during pregnancy and childbirth, maternal infections, smoking, nutritional factors, maternal stress, and chemicals such as flame retardants.

Several studies presented by researchers at the latest International Meeting for Autism Research (IMFAR) suggested that a variety of environmental factors likely contribute to the risk of developing autism.  This year, as the emphasis on the role for environmental factors in autism continued to grow, so did the list of candidate environmental risk factors under study. Among the many factors discussed at the meeting were hazardous air pollutants, assisted reproductive technologies, medications given during pregnancy and childbirth, maternal infections, smoking, nutritional factors, maternal stress, and chemicals such as flame retardants.  Many of the projects were funded by Autism Speaks or Autism Speaks-funded researchers, including those leading the Early Autism Risk Longitudinal Investigation (EARLI) study the International Collaboration for Autism Registry Epidemiology.

Epidemiological data presented at IMFAR 2010 supported a link to autism for some environmental factors while ruling out a link for others.   Two of the exposures found to be associated with autism were gestational diabetes in pregnancy and medical interventions related to assisted reproductive technology, specifically ovulation induction or in vitro fertilization. Other exposures, such as smoking, prenatal stress, and hazardous air pollutants in Southern California were not found to be associated with an increased risk for autism or differences in autism severity.   Many of the findings presented by researchers were considered preliminary and will require replication with larger samples.

Not all risk factors will impact everyone equally, and researchers at the conference found that the effects of some early environmental exposures, such as maternal infection during pregnancy, were dependent on the particular individuals being exposed.  For example, maternal bacterial infection during pregnancy was more likely to increase risk for autism when the infant was born prematurely or have low birth weight infants.  Additional “high risk” groups may include children who spent time in neonatal care units as infants either due to low birth weight or gestational age.  Further research needs to be carried out to validate and extend these findings, helping to better identify particularly susceptible – or perhaps even protected – subgroups.  Moreover, although these epidemiological studies have found a link between these specific factors and autism risk, beyond replication of the data it will be important to address the biological mechanisms through which the candidate environmental factors are operating, including the role of genetic variation in vulnerability to specific environmental factors.  As one example, using samples available through Autism Speaks’ genetic data base, AGRE, researchers found variations in the sequences for genes related to the oxidative stress response.  These gene mutations may impact the ability of a person to metabolize toxins.

To hasten discovery of environmental risk factors through epidemiological studies, Autism Speaks partnered with the National Institute of Environmental Health Sciences to facilitate the creation of a network of over 35 researchers involved in a dozen studies that collect biosamples and other data related to gene / environment interactions in ASD. It is hoped that the establishment of a network of researchers with common goals, challenges and needs, will facilitate advances in this field through collaborative efforts that could provide larger data sets.  Researchers in the new network met together for the first time at this year’s IMFAR.  “We are thrilled to be partnering with the National Institute of Environmental Health Science to promote collaboration among epidemiologists studying environmental risk factors for autism,” commented Autism Speaks’ Chief Science Officer, Geri Dawson, Ph.D.   “We hope this new collaborative effort will help us identify strategies for accelerating research on environmental factors, what are the needed tools and gaps, and what are the most important questions we should be addressing.”  For more on this network, read Dr. Geri Dawson’s summary of IMFAR.

One specific environmental factor that was particularly highlighted among the IMFAR presentations this year was BDE-47, a chemical in the class of poly-brominated diphenyl ethers, or PBDEs, which are flame retardants used in plastics and consumer electronics.  Scientists reported that peripheral blood cells treated with BDE-47 show an increased production of a cytokine called IL-6, which has previously been linked to autism-like behaviors in mice.   Following up on this study, researchers from the same institution found behavioral deficits were induced by pre- and post- natal exposure to BDE-47, including spatial learning and perseverative behaviors.  Another study at the conference focused on the interaction between exposure to BDE-47 and certain genetic risk factors, finding that deficits caused by BDE-47 were more severe in the presence of a mutation that effected expression of MeCP2, the gene that causes Rett Syndrome, a neurodevelopmental disorder related to autism.  Finally, although an epidemiological study did not find increased levels of BDE-47 in children that had already been diagnosed with autism, a follow-up study using a prospective design to study “at-risk” infants is underway to determine possible critical windows of exposure during development.  Therefore, in the case of BDE-47, the neurobiological mechanisms of action are in the process of being identified.  However, further epidemiological research is needed to determine if this exposure is specifically associated with an outcome of autism.

While these findings are interesting, how do scientists convey important research findings related to risk for autism when there is still uncertainty regarding their meaning for individual families affected by autism?  This was the topic of a special IMFAR symposium this year titled “Ethics of Communicating Scientific Risk,” led by Craig Newschaffer, Ph.D. and Michael Yudell, Ph.D. from Drexel University.  Families rely on scientific research to establish the credibility and reliability of findings, and on advice from professionals regarding whether and how they should change their behavior to modify risk.   Discussions at the symposium centered around making sure to keep in mind the prevalence of the risk factor in the general population – how common it is – and whether the benefits of exposure outweigh the risks.   Because families primarily seek information from autism care providers, such experts should be receiving training on how to evaluate findings and communicate them effectively.  Overall, this symposium and the discussions to follow will provide a framework for scientists, clinicians, autism providers and the media to more effectively convey information in an ethical and responsible way.

Find more  information about the broad range of environmental exposures being studied through Autism Speaks support.

Epilepsy and Autism: Does the study of one help us understand the other?

June 7, 2010 8 comments

Staff Blogger, Leanne Chukoskie, Ph.D., Asst. Dir. Science Communication and Special Projects

Epilepsy is a common comorbidity in autism, occurring in as many as 30% of all cases.  In overnight or 24 hour EEG studies, atypical brain activity known as spikes or epileptiform activity—that looks somewhat like brain activity during seizure but does not occur with a seizure—has been measured in as many as 60% of autism cases.  What can this atypical brain activity tell us about autism? Should we think of the presence of this activity as a biomarker for autism, or is it a more generic sign of brain dysfunction?

At IMFAR, this topic was raised in an invited educational symposium focused specifically on epilepsy and autism.  Sarah Spence, M.D., Ph.D., (NIMH; and also serving on the ATN and AGRE board of advisors), a neurologist specializing in both autism and epilepsy, organized and chaired the special session.

The scientific literature indicates that although there is considerable variability in the presentation of seizures among individuals with autism, there are also some consistencies. The rate of seizures in the autism community varies with the age of the individuals studied and the frequency of comorbid symptoms or syndromes and intellectual disability. Although girls are less frequently diagnosed with autism, they are more likely to experience seizures. All types of seizures have been observed in autism, but the generalized tonic clonic (or grand mal) seizure is most common.  It was noted, however that it is difficult at times even for a skilled clinician to distinguish what might be absence or complex partial seizures from the behavioral arrest, periods of unresponsiveness, eye deviations and repetitive behaviors that are common in autism.

Michael Chez, M.D. (Sutter Medical Center, UC Davis School of Medicine), offered the perspective of a neurologist who sees many children with autism. Although there are many tests that are ordered for autism, the EEG is the one that most often reveals an atypical result. In a 2006 study Dr. Chez and colleagues reported on 889 children with non-syndromic autism without other comorbidities. Sixty percent of these children showed epileptiform activity even though they had never had a clinical seizure.  Importantly, he and others were surprised to see no difference in the incidence of epileptiform activity between children who had regressed and those who showed no developmental regression.

All clinical seizures are treated with medication.  But these data about abnormal EEGs in the absence of epilepsy suggest a clinical question: should the epileptiform activity be treated as in the same manner as frank epilepsy? A few recent studies showed benefits not only in the reduction of this aberrant activity on EEG but also some improvements in cognitive function with the use of certain anti-seizure medicines. Randomized controlled trials are needed to learn whether treating epileptiform activity itself offers more potential for improvement than harm.

In some cases of severe intractable epilepsy, steroids have been used to gain control of seizures.  This appears to work for a short period of time (long term steroid use has many adverse effects) in individuals who experience seizure activity focused in the right hemisphere along the main fold (called the central sulcus) in the brain.

Jeff Lewine, Ph.D. (MIND Research Network, Albuquerque, NM) and colleagues conducted an open label trial of the anti-seizure drug, Depakote, given with a steroid, and measured how well individuals with autism produce and understand language before and after treatment.  Most of the children tested showed substantial improvement in both aspects of language while on treatment.  Those who responded to the steroid tended to have simpler patterns of epileptiform activity than those who did not respond to the treatment.  Unfortunately, long-term steroid use isn’t a viable treatment option and 80% of the children who showed gains with the steroid lose them again after stopping the drug.  A randomized clinical trial of Depakote plus steroid is needed as well as discovery of new methods to induce these improvements without the side effects.

Dr. Lewine also spoke about the typical (but by no means only) pattern of epileptiform activity in individuals with autism, which occurs in both hemispheres and is multi-focal with common activity around the sylvian sulcus. Magnetic resonance imaging (MRI) comparisons of brains of children with epileptiform activity show an increase in brain volume, especially with the white matter or “wires” in the portion of the brain where the activity is focused.  The question is which comes first, the increase in white matter or the epileptiform activity?  We don’t have an answer to that question yet, but it is an active area of research. We do know that when we consider the incidence of epileptiform activity across the autism spectrum, it appears that individuals with lower levels of functioning have more epileptiform activity. And as noted earlier, the overall incidence of atypical brain activity in children who experienced an autistic regression is not different from what is observed in children with general developmental delay, however some studies show that children who have regressed have greater incidence of epilepsy.

One of the genetic syndromes that presents with a high proportion (approximately 40%) of individuals with autism is Tuberous Sclerosis (TSC).  TSC is a rare disorder affecting the brain, the skin and other organs.  Individuals with TSC frequently experience seizures (90% likely with a lifetime) whether or not they have autism.  The pathological features of TSC in the brain involve the presence of tubers in the cerebral cortex.  Within these tubers scientists have observed giant brain cells that are 10 times greater than the size of a typical neuron.  This seemingly odd result makes sense with what is known about the effects of the TSC enzyme complex in controlling the growth of cells.  TSC acts by putting a break on the cellular machinery that creates new proteins for cell growth.

Dr. Mustafa Sahin, M.D., Ph.D. (Harvard; Children’s Hospital, Boston) presented data on TSC along with an intriguing hypothesis: miswiring of the projections that connect neurons (called axons) results in the start of the disease process in TSC.  Animal models of TSC support this hypothesis—TSC mutants have more axons.  Scientists examining these animals’ early development also see errors in how axons weave their way through the immature brain to reach the location where they will begin making adult-like connections.  Treatment with the drug rapamycin helped animals with dysfunctional TSC genes in terms of improving the insulation on the neural wires (the insulation that covers axons is called myelin), which makes communication more effective in axons that travel between distant brain regions.  By improving the process of adding myelin to these animals’ axons, seizures stopped and learning also seemed to improve. Dr. Sahin and colleagues are now beginning Phase II of a randomized controlled trial using rapamycin in patients with TSC to look for neurocognitive improvements with the drug.  By learning more about how this drug works in people with TSC, we increase our opportunities for creating therapies for individuals with non-syndromic forms of autism.

Atypical sensory perceptions are commonly experienced in autism and some have noted altered perceptions just prior to the onset of seizures. The immature visual system offers a unique opportunity for understanding how early epileptiform activity in the brain can alter development and perception.  Michaela Fagilioni, Ph.D. (Harvard; Children’s Hospital, Boston) and colleagues showed how the outcome of visual development could be controlled in elegant experiments designed to nudge what is known as the “critical period” for determining how much real estate in the visual brain will be dedicated to the right versus left field of vision.   The critical period is a time of great adaptability of brain circuits. Administration of drugs, like diazapam (more commonly known as Valium) very early in mouse postnatal development will shift the start and end of the critical period to earlier times. Keeping the animal in the dark and suppressing inhibitory activity in the local brain circuits are two ways Dr. Fagilioni and colleagues have found to keep the critical period open longer.

Both excitatory and inhibitory neurons are important in establishing the critical period, with the inhibitory (GABA-secreting) cells serving as the trigger for flexibility in this system.  The balance of activity between excitatory and inhibitory neurons is very much at the heart of the challenge to understanding epilepsy.  Recent work suggests that changes that affect the critical period also change an individuals’ vulnerability to epileptiform activity.  These results are important for autism because they undercover important functional anomalies in mouse models of autism that we may also expect to observe in some individuals with autism.  For example in the Neuroligin 3 mutant mouse, the critical period for establishing eye dominance is completely absent.  The competition for neural real estate, which is typically seen only very young animals, can be induced throughout the life of the Neuroligin 3 mouse.  Similar atypical findings with respect to this early sensory flexibility or plasticity occurs in other animal models for autism.  Lastly, but importantly, while the visual system’s plasticity may be well-established and produce easily observable effects, Dr. Fagilioni and her colleagues are examining the critical period in other sensory modalities like audition.

Considering these results together offers a greater appreciation of the complexities—and also the excitement—of investigations at the interface of epilepsy and autism.  We need research investments at both ends of the discovery path. Greater investment in the basic research will help relates early sensory plasticity, and altered sensory experiences, to mechanisms of epilepsy and autism. We also need a better understanding of the drugs that can be made available now to deliver safe and effective treatment options for achieving optimal outcomes in individuals with autism. Autism Speaks is currently exploring some of theses issues in a partnership with the International League Against Epilepsy.

Measuring Outcome and Addressing the Needs of Adolescents and Adults with ASD

June 3, 2010 4 comments

This is a guest post by Ruth Carper, Ph.D. Dr. Carper is a member of the research faculty of the Center for Human Development at the University of California San Diego ( She is beginning a study on the cognitive and behavioral changes that occur in people with ASD over the age of 30 years, and on the support services that are available to people in this age group.

Kids with ASD get lots of attention in the media, in research, etc. But what happens when those kids are 20? Or 40?  These kids we see today will grow up, do grow up. They will become adults, some able to function independently, go to college, and have “normal” lives.  Others will move to group homes or supported living services, and some will stay at home with family. But they will grow up and there are a great many issues that families must contend with and plan for and a great deal of information that service providers and scientists don’t yet have.

In the past, studies of long-term outcome in adults with ASD only looked at very basic measures. Outcomes were classified as ‘good’ or ‘poor’ based primarily on independence – holding a job, living outside of the parents’ home – and simple measures of overall intelligence.  While this information is useful, it doesn’t provide much detail about how relevant symptoms and specific abilities change during adolescence and adulthood. Social skills often improve, but we don’t yet know to what degree, or whether skills continue to improve across the lifespan. Repetitive behaviors are thought to diminish or change in quality. Only recently has research begun which will help us to understand how symptoms and abilities change as people with ASD grow up.

At the recent International Meeting for Autism Research (IMFAR), the special Educational Symposium “What Really Matters: Measuring Outcome and Addressing the Needs of Adolescents and Adults with ASD” introduced some of these issues. (The symposium was organized and moderated by Drs. Patricia Howlin and Peter Szatmari. Presentations were given by Julie Taylor, Themba Carr, Somer Bishop, and Kaite Gotham.) While a short symposium can only scratch at the surface of such a broad topic, the information offered was informative and is summarized below. However, the thing that struck me most about the session was that it was standing room only, showing the growing interest and attention that will be paid to the needs of adults and adolescents with autism.

The transition to adulthood

Our education system provides appropriate (more or less) training as mandated by IDEA until the child reaches 22 years of age. But access to services changes drastically after that, with many services no longer available to young adults. This time of transition can have a major impact on young adults with ASD and on their families.  Any parent reading this blog knows that change can be quite stressful for an adult or child with autism.  The drastic changes to daily routine, structure, and social opportunities can affect mood, anxiety, and behavior.  One study examined the challenges that occur during the period as the individual exits the school system.

The daily routine, structure, and social opportunities that are provided by the school setting, as well the behavioral interventions that may be implemented there, generally help to improve the child’s social skills and behaviors.  Not surprisingly, the loss of these opportunities reduces the rate of that improvement and may even result in setbacks.  Researchers followed a group of children and young adults during their school years and saw a continuing reduction in the frequency of unwanted repetitive behaviors, ongoing improvement in pro-social behavior, and improvement in internalized behavior.  Unfortunately, when these children left high school, their rates of improvement slowed substantially.  For the most part behavior didn’t get worse, but the change in rate suggests that further gains may have been possible but that those opportunities were missed.  If structured services were more available for adults with ASD, substantial gains might continue.


In addition to the behavioral and cognitive issues that define autism, additional problems may arise.  The challenges of living with autism can produce anxiety and depression both in people with autism and in their families and caregivers.  This may be particularly problematic for higher functioning individuals. Even among adults who do not have autism, greater awareness of one’s own social limitations or poor social skills, is known to correlate with depression. Higher functioning people with ASD generally have greater insight into their own limitations and that may affect mood or produce anxiety. Insight into a person’s prospects for independent living is also a predictor of depression.

More cognitively impaired people with autism may be somewhat protected from these secondary stressors simply by being less aware of their own limitations. But it’s difficult for us to know. Communication skills are poor of course, but it’s particularly difficult for them to communicate about abstract concepts such as emotions. A range of emotions is certainly felt, but can’t be described in words. And the overt symptoms that can be indicators of depression in young children with similar language difficulties, may not be telling in autism. Typical hallmarks of depression such as changes in appetite or sleep patterns are often abnormal in ASD even without depression.

Effects on the family: Cultural differences

Having a child with autism, whether he is still a child or is an adult, can have a substantial effect on the life of the parent.  Family relationships can be affected, friendships, activities, and finances, can all be affected.  In a survey of parents, mothers were asked to reflect on the degree to which their child’s ASD had affected their own lives and compared the effects reported by African American and Caucasian mothers of different levels of education. Caucasian parents generally reported a greater negative impact on their daily lives than did African American families.  The moms that reported the least negative impact were African American parents with less education (e.g. high school as opposed to college).  This suggests that these families are better able to cope on a personal and emotional level than other families. This is somewhat surprising given that these moms probably did not have the same financial resources that are typically available to families with more education. This may also be surprising in light of the reported difference in services utilized by these families. During the school years, Caucasian children with ASD receive many more hours of treatment outside of school than do African American families. However, it is unknown if this reflects a true difference in access, or is a result of the lower perceived impact.


This two-hour symposium was only able to discuss a small part of the very large topic of adolescence and adulthood in autism. We still need to know more about how abilities and symptoms change in the longer term, into middle age and even into senior years. Families still need to know if sufficient care services are available and are appropriate for their adult children. We need to know what interventions, training programs, and other support services are most effective for improving quality of life. Fortunately, funding agencies, such as Autism Speaks and the National Institutes of Health, are now directing effort toward these issues, specifically asking for more research on later portions of the lifespan in autism. Where funding goes, research will follow, so we can expect a better understanding of these issues in the coming years.

Please also visit our Advancing Futures for Adults with Autism initiative at and “like us” on Facebook, where we regularly post articles and items of interest regarding adult issues and services.

To read complete coverage from IMFAR, please visit

Human Genetics at IMFAR

May 27, 2010 4 comments

Guest staff blogger: Vlad Kustanovich, Ph.D.

Genetic research is one of the exciting avenues of investigation that was highlighted at this year’s IMFAR meeting.  The section on human genetics started with a description of the largest study of autism twins to date. This study, described by Dr. Joachim Hallmayer, has concluded the data collection  phase and is beginning to shed new light on how much autism can be explained by genes and how much by environment.   Because identical twins share 100% of their DNA while fraternal twins share only approximately 50%, geneticists can compare the relative contribution of genes and environment, since it is assumed that for each twin pair, the environment is the same.  Clearly, both environment and genes are involved but this study may help to identify to what extent.

Dr. David Ledbetter described his effort to gather anonymous genetic information on chromosomal microarays from hundreds of thousands of patients with autism spectrum disorder and developmental delay.  He is doing this by forming partnerships with over 120 clinical labs throughout the U.S. Dr. Ledbetter, a world-reknown expert in cytogenetics, has the knowledge and respect of the scientific community to achieve the goal of creating data standards and pooling information to show which chromosomal changes are most often identified in these groups.   Deletions in regions on chromosomes 16 and 22 are identified consistently.  Although still rare, an understanding of altered genes in these regions may lead us to identify new subtypes of autism.

Other talks focused on studies of brain and face development (since these happen at the same time) in families with autism from the Autism Genetic Resource Exchange, an update from the Autism Genome Project, and a fascinating talk from Sun-Chiao Chang (working with Dr. Susan Santangelo) on sex-specific effects in autism spectrum disorder.   Ms. Chang identified several genes which seem to have an effect only in males, possibly helping to explain the common finding that there are four times as many males with autism as there females.

To read complete coverage from IMFAR, please visit

Updates from the Autism Treatment Network Registry: What Do We Know About Medical Issues in Autism?

May 24, 2010 3 comments

Guest Blogger: Nancy Jones, Autism Speaks ATN/CTN program director

Since its inception, IMFAR has been pivotal in promoting interest in autism research and disseminating findings. These have included findings from treatment studies and interdisciplinary research networks such as ACE, STAART and CPEA. The Autism Treatment Network (ATN) is a unique network that seeks to improve care for families and can serve as a platform for research. The ATN maintains a patient registry that had grown to over 2100 children who are seen for clinical care at the 14 ATN centers across the U.S. and Canada

The ATN reported new findings from its database on the use of psychotropic drugs, use of complementary and alternative medicine approaches, sleep and GI disorders. On Saturday, the ATN led an Invited Educational Symposium on medical co-morbidities. Chaired by Autism Speaks vice president of Clinical Programs, Clara Lajonchere, the panel featured presentations by George Fuchs, M.D. (GI specialist from UAMS; chair of the GI committee), Beth Malow, M.D. (sleep specialist from Vanderbilt University, chair of the sleep committee), Sarah Spence, M.D. (NIMH neurologist and external advisor to the ATN) and ATN Medical Director Dan Coury, M.D.

(View study abstracts and search “ATN” to find the four posters/presentations, learn more about the educational symposium and to see other work based on data from individual ATN sites.)

There are a number of key themes that emerged from the discussion of the findings:

  1. Rates of GI dysfunction (45%), sleep problems (65%), and psychopharm use (27%) in ASD from the ATN database are consistent with previous research and reports from clinical practice. This provides further confirmation to the need to continuing pursuing treatment and care standards for the issues.
  2. The diagnostic and treatment algorithms  (“decision trees” to guide physician diagnosis and treatment decisions) that are currently being piloted in the ATN will become the basis for guidelines that can be shared broadly amongst treating physicians, in partnership with professional medical societies. This could be a model for other developmental disorders.
  3. While not a research network, the ATN is poised to address research directly relevant to clinical care and treatment. Dr. Coury described six on-going studies including a randomized controlled trial of a sleep intervention, a large scale study of nutritional status, and recently launched studies on iron status and metabolism, bone density in children with ASD, the relation of sleep and psychiatric comorbidities, and identification of a specific metabolic disorder (creatine deficiency).
  4. In all the areas, there is still a great need for additional evidence to support the development of evidence-based standards. But findings to date help us several ways:
    • Presentations of these findings at meetings like IMFAR and at professional meetings such as NASPGHAN (GI), SLEEP, and the Pediatric Academic Society are helping raise awareness about these issues, and are informative for specialists with little knowledge or experience caring for children with ASD.
    • They also guide us towards key areas to pursue to support improvements in treatment and care: characterizing the nature of these medical disorders as they manifest in children with ASD; conducting large controlled trials of single treatments;  doing comparative effectiveness research to determine relative effectiveness of different types of treatment,  taking advantage of large datasets (such as ATN as well as genetic databases); disseminating our best evidence to the practicing physician community.

There is great hope in what can be done through the continued collaboration of clinicians, medical specialists, researchers and families. As Dr. Coury remarked, “We may face challenges, but the ATN is currently the only bi-national, multi-site care network of this type for autism. The power of this network is its members – not just the member hospitals and clinicians, but also the family and professional communities to which they are connected.” The contribution of each of our partners is essential to ensuring that top of the line care and the utmost respect is always given to ATN patients.

To read complete coverage from IMFAR, please visit

Categories: Science Tags: , , ,

Families and Friends Network at IMFAR

May 24, 2010 7 comments

Peter Bell is executive vice president for programs & services at Autism Speaks. He is also a founding member of the Diversity Committee for INSAR and will serve as the co-chair in 2010-2011.

From its inception, IMFAR was a meeting that attracted hundreds of scientists, researchers, clinicians and even students who were interested in advancing the knowledge base of what autism is and how they can help improve the quality of life for those who live with the condition. And though the idea of IMFAR was originally conceived and funded by the two leading national advocacy organizations at the time (Cure Autism Now and the National Alliance for Autism Research, both of whom merged with Autism Speaks) and the M.I.N.D. Institute at UC Davis, the annual meeting quickly became the most popular venue for autism researchers to present their findings, exchange ideas and develop new collaborations to advance the field. Autism Speaks is a major sponsor of the conference.

Eventually a membership organization was formed called the International Society for Autism Research (INSAR) to help advance the quality, size and scope of the annual meeting. In 2008 INSAR created a new peer-reviewed scientific journal, Autism Research, to expedite the publication of key findings specific to the autism community. Without a doubt, IMFAR and INSAR have both been instrumental in developing the field autism research during the past decade as evidenced by the 1,700 participants who attended this year’s meeting in Philadelphia.

As one would expect, many families and individuals who are affected by autism are deeply concerned and interested in staying on top of the latest advances in autism research. It’s also important for researchers to get input from the patient population they serve. Each year, IMFAR attracts a contingency of stakeholders who want to stay abreast of these developments. Last year, INSAR formed a Diversity Committee to increase membership diversity for INSAR as a whole and to increase the participation of family members and individuals with autism as well as those visiting from other countries at its annual meeting.

This year, the Diversity Committee hosted a special luncheon during IMFAR called “Family & Friends Networking Luncheon.” The event was sponsored by Autism Speaks and I helped moderate the discussion. The Diversity Committee selected a panel of researchers from this year’s Invited Educational Symposia who included: Daniel Coury, M.D. (Nationwide Children’s Hospital), Craig Newschaffer, Ph.D. (Drexel Univ.), and Sarah Spence, M.D., Ph.D. (NIMH). In addition, INSAR President David Amaral, Ph.D. (UC Davis) was on hand to provide an overview of autism research in general as well as the history of IMFAR. He welcomed the involvement of families and individuals affected by autism and reinforced their importance in the planning of future meetings.

Dr. Coury, who is also the Medical Director of Autism Speaks’ Autism Treatment Network (ATN), shared details about the ATN and some of the exciting research findings that were presented at this year’s meeting. Many of the attendees were pleased to hear about the focus on GI and nutritional issues, sleep abnormalities and metabolic disorders that are present with many people living with autism. Dr. Newschaffer shared his enthusiasm about the future direction of epidemiology as a means of identifying risk factors associated with autism, in particular the increased focus on the role the environment plays. He highlighted his EARLI Study which is tracking the pregnancies of mothers who already have a child with autism from as close to conception as possible through the first three years of the newborn child’s life. And Dr. Spence discussed several autism-related clinical research projects that are taking place within the NIMH Intramural program including drug trials for immune disorders, sleep issues and epilepsy. Many of these trials are in response to parents’ concerns and will hopefully give future direction for the use and development of autism treatments.

The second half of the luncheon was devoted to questions from the almost 60 family members and individuals with autism spectrum disorders (ASD) who were in attendance. The dialogue was rich, honest and respectful. Some parents got a chance to express their concerns about the lack of treatment options and the need for a larger number of well-informed and trained clinicians in the community. On a final note, each panelist was asked what autism advancement (besides something they were working on) excited them the most. Two responded with the development of drugs for other neurodevelopmental disorders that could be relevant for autism with particular emphasis on older individuals; another was excited about the development of non-pharmacological treatments that have the potential to improve outcomes without drugs and the final panelist was encouraged by the developing consensus on potential risk factors associated with autism.

On a personal level, I was excited to witness the exchange of perspectives among these two important groups, families/ASD individuals and scientists. For us to find the answers we need to help those we love living with autism, it’s going to take strong collaboration between these two and this luncheon served this purpose nicely.

To read complete coverage from IMFAR, please visit

Categories: Science Tags: , ,

How does genetic research benefit people living with autism today? And why do scientists do autism research on mice?

May 24, 2010 2 comments

Guest Blogger: John Elder Robison, author, advocate, adult with autism and member of Autism Speaks scientific advisory board.

Those are two of the questions I discussed with researchers at this year’s IMFAR autism science conference. We’ll start with genetics, an area of study that’s often misunderstood…

The available evidence suggests that autism has both genetic and environmental components. When you study autistic minds at the cellular level, it’s possible to find many subtle differences between the brain cells and structures of people with autism and our typical counterparts. Researchers are working hard to look at those differences and why they occur. At first, scientists thought we were born a certain way, but that thinking has evolved. Now most scientists believe our genes give us a predisposition toward something but both genes and the environment shape the final result.

Adding to the complexity is that “environment” is a catch-all word for many different things, including the air we breathe, our food, our water, and even the social community where we’re parented and raised. We are truly the product of the genetic material we start with and everything we encounter from that point forward.

Researchers have been cataloging autistic differences for some years now. Essentially, they start with the observable manifestation of a difference (like ignoring the people around you or failing to communicate in the normal ways) and work backward until they find a possible biological reason why. For example, a first clue might be an area of the brain that’s too large or too small. Research biologists look at smaller and smaller structures until they get to the smallest difference, which might be an error in the DNA code for those cells.

Having found an abnormal part of the brain, and a possible genetic explanation, they now need to test their ideas out. That’s where the mice come in.

You may have read stories about our gene splicing and engineering skills. Genetic engineering has given us many things, from cloned sheep to drought resistant corn. It also gives us a powerful tool to study complex disorders in humans. In these experiments, mice stand in for people. By introducing the genetic mutations we discover into mice, we are able to observe changes in their brains and even their behavior.

Why mice?

As it happens, mice are uniquely suited for this work. They are genetically very similar to humans, with over 99% similarity in the areas of the brain we’re studying in autism research. Almost every human gene has its analogue in a mouse. Mice are also social animals, making it possible to observe the impact of genetic changes in their behavior. Finally, mice grow fast and are relatively inexpensive to raise.

The human genome has about 3.2 billion base pairs, with about 25,000 actual genes. In a stroke of great fortune for scientists, almost every human gene can be found in a mouse. Mice have fewer base pairs than humans, but their gene count is about the same.  Scientists can insert actual human DNA into mice genes and then breed a population of altered mice for study. This sort of work has been extraordinarily valuable to medical science, giving us insights we just couldn’t get any other way.

When we introduce a human genetic aberration into a mouse we are able to see for sure whether that change introduces a structural change in the mouse’s brain. But more importantly, we get a chance to learn how such a change impacts the mouse’s behavior. Indeed, we are finding genetic differences that do actually translate into autistic behaviors in mice. For example, some differences make normally social mice totally ignore other mice in a cage. Other differences make the mice wring their “hands” and flap in a pattern of behavior that’s striking similar to human autistic stimming.

Once scientists have a mouse that exhibits a particular autistic trait, it is then possible to experiment with therapies to correct the problems. That’s where we are now with a number of genetic differences associated with autism. We are also able to study the relationship between a genetic difference and the environment with mice.

Some of the best-known examples of this work can already be seen in the grocery store, or the hardware store. Just look at the label warnings that tell you repeated exposure to a certain chemical causes cancer. We see those warning labels on packages everywhere. We identify cancer-causing chemicals by exposing mice to a particular compound and seeing if they develop cancer. In the autism world, researchers have looked at exposure to high levels of lead, mercury, and other chemicals to learn how they affect the developing or developed mouse brain.

One day, thanks to this sort of research, we might have labels that say, “Warning – Exposure to xxxx can cause autism.”  There may indeed be environmental toxins that trigger autistic regression in people, and there may be chemicals that make autism like mine worse. If I knew what they were I’d be sure to avoid them – any of us would – but science needs to identify them first.

We know some chemicals are dangerous. Most of us already avoid heavy metals and other known toxins. My concern is that we may find other common but currently ignored compounds that are safe for some people but dangerous to others of us on the spectrum. For many of us, that knowledge cannot come soon enough.

On a hopeful note, we can also try various drugs, some of which can minimize or fix damage that started in the genetic code. For example, researchers have recently found that people with autism have excessive brain plasticity. Plasticity is the ability of your brain to change in response to life circumstances. Plasticity is essential to learn new skills, but too much of it can prevent you from learning much at all, because your mind can’t “take a set.”

We know how to create mice with excess plasticity, and we are now studying the effectiveness of drugs to reduce plasticity in abnormal mice. It’s both safer and faster to try these new drug therapies in mice, because they develop so much faster than humans. That work may – hopefully – lead to promising discoveries that can be tested in humans and perhaps ultimately lead to new therapies for that particular component of autism.

It’s important to keep in mind that we are not creating “autistic mice.” Autism is an extremely complex disorder, to the extent that many people say no two autistic people are the same. What we’re doing is modeling specific autistic differences by finding genetic codes that are associated with them.

That sounds easy, but it’s not. One problem is that a social behavior – like ignoring your fellow mice – might be associated with more than one genetic difference. In humans, we have hundreds or even thousands of subtle differences associated with autism. And no one genetic difference is common to all of us.

That’s why this is such a hard problem to unravel. We can isolate a difference, and even develop a therapy to fix the changes it causes, but that difference may only be present in 1% of the autistic human population. So what do we do for the other 99%? We continue our studies of mice and men, I suppose.

Some people are critical of genetic research in the field of autism, because they fear it may lead to prenatal screening and the abortion of autistic fetuses. I participated in many discussions last week, and I can say with certainty those ideas were not even on the table for the scientists involved.

Others criticize genetic studies because they think (wrongly) that the work won’t benefit anyone living today. However, the stated goal of much of today’s work is indeed to help the current autistic population.

No one can say what the full ramifications of any particular work may be, but I hope the ideas I’ve shared here make the importance of ongoing genetic research clearer. There is indeed a very good possibility that genetic research today will lead to therapies to mitigate certain components of autistic disability well within our lifetimes.

I sure hope so.

To read complete coverage from IMFAR, please visit

Read John’s other IMFAR blog post here: A World of Geeks – IMFAR 2010.


Get every new post delivered to your Inbox.

Join 1,049 other followers

%d bloggers like this: