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Sound Bites – Autism Tidbits from IMFAR 2011

May 14, 2011 9 comments

This is a guest blog post from 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.

There is a lot of talk about the need for therapies for adults with autism. A review of emerging adolescent therapies suggests that many can be applied to adults with minimal adaption. Testing/validating of what we have will be a lot less costly than developing something new.

Stem cell research may ultimately hold a key to autism, as we learn to grow brain sections of mice in the lab. That skill may translate to humans within a decade.

More and more, scientists agree that autism is the result of genetic predisposition and a trigger. Many hoped the “trigger” was a simple chemical like mercury, but we are realizing there are both environmental and disease triggers. Unfortunately, knowing they are there does not make them any easier to find. Identifying pathways into autism for a large part of our population remains an elusive goal.

One of the things that pleased me most at this year’s IMFAR conference was the way that advocates and journalists are finally coming together and finding common ground. “As Thinking Person’s Guide to Autism” editor Shannon Rosa said, science doesn’t have a hidden agenda…

This year’s Autism Speaks “Autism Connects” technology competition drew over 130 technical and engineering students to develop tools to help people with communication disabilities. For me, the most important take-away was not the entries themselves but the realization that we have so much to gain by drawing technical people from other fields, like industrial design and computer science into autism research.

For some time we have known that that therapies like ABA teach behaviors, not feelings. For example, we (autistic people) can learn to read a face and realize, “he’s happy,” but that logical knowledge does not often translate to us experiencing the feeling. At this year’s IMFAR Susan Bookheimer of UCLA spent quite a bit of time showing me what imaging studies are teaching us about how we may soon help autistic people feel that happy message and thereby feel happy themselves. That will represent a quantum leap in the power and effectiveness of therapy.

I’ve heard comments about “the rolling walk of autistic people” before. This year I saw results of a study from the University of Fairfield that actually quantified differences in gaits between autistic and NT people. Why do we walk in a sawtooth pattern where NT people walk in a straight line? The researcher had some ideas, but why remains a mystery.

For years people have looked at nonverbal people (autistic or otherwise) and wondered… what’s going inside their brains? If a person can’t talk, they can’t take a conventional IQ test, and rightly or wrongly, many have been presumed intellectually disabled for lack of evidence to the contrary. Today, researchers are using both high precision EEG and fMRI imaging to measure brain patterns in response to stimuli. For example, when a person sees a cat and hears the word cat there is one characteristic pattern of activity. When the person sees a cat and hears dog, the mismatch causes a different activation.  We can measure those responses, even in people who don’t talk, and thereby gain insight into how much they are perceiving and thinking, and how fast. Understanding is the precursor to therapy.

This year many scientists who have family members on the spectrum proudly wore stakeholder ribbons on their name tags. At the stakeholder lunch, we discussed the balance between funding community services and funding science. Without science, all we have to care for the disabled is faith and compassion. The addition of science-based medicine is what’s taken us from life in the Middle Ages to where we are today. Science provides the foundation to make community and family services work better. That’s why we need it.

When I spoke at the luncheon yesterday, I reminded people that we are all sitting here in safety, but in the middle of our country, one hundred million pounds of water are flowing past Red River Landing on the Mississippi River every single second, and the rate is rising still. That flood could cause the loss of the Old River Control Structure, which is what keeps the Mississippi from changing course and flowing to the Gulf at Morgan City instead of New Orleans. If that happens as a result of this historic flood (already greater than any we’ve seen in 80 years) our country could be facing the worst natural disaster in its history.

If you’re a praying person, now is the time to pray for all those people in the Mississippi floodplain. As much as I believe in science and engineering, if I had to lay money on the Army Corp of Engineers or Nature, I’d have to choose nature.

Why Nature? In the world of autism, the brain nature has given us provides the most complex puzzle man has ever attempted to solve. Out on the river, this flood shows once again how all our science and technology sometimes fades to insignificance before the natural world. Yet we go forward with faith that science will bring us the solutions we need, both on the river and in our heads.

On a personal note, I was pleased to see grad students and researchers whose work I have supported through my participation in review boards bringing the fruits of their work to IMFAR. It made me feel like I had a small part in the collective success of our group, and that feels good.

I was also thrilled to see that Alex Plank (a young man with Asperger’s) was filming the conference and he’ll be sharing it soon on the Autism Speaks and Wrong Planet websites, and elsewhere.

In closing I’d like to thank all the friends I’ve made in this community, and also the folks at INSAR and Autism Speaks, who made it possible for me to attend this conference. I’ll see you next year in Toronto!

Woof!

Non-verbal Autism Research Highlighted at IMFAR

May 14, 2011 18 comments

By Leanne Chukoskie, Autism Speaks

In 2008, Autism Speaks kick-started research in the area of non-verbal autism through its High-Risk High-Impact initiative. This year at IMFAR, Autism Speaks-funded research was featured in the Invited Educational Symposium titled Characterizing Cognition in Non-verbal Individuals with Autism: Innovation, Assessment and Treatment.

Geraldine Dawson, Ph.D., Autism Speaks’ Chief Science Officer, chaired the session and set the stage for the audience to appreciate the importance of this particular topic. An estimated 30% of individuals living with autism are functionally non-verbal, yet very little research effort was directed toward helping this group communicate their wants and needs. The inability to communicate leads caregivers and clinicians to the presumption that the cognitive skills in these individuals were low because the tests typically used to assess cognitive skill require verbal or behavioral responses that this group of individuals does not readily produce.

The first speaker was April Benasich, Ph.D. of Rutgers University, who received an Autism Speaks grant for her research. Dr. Benasich presented data on innovative new studies on 3-7 year old non-verbal children with autism. Using tasks that were designed to assess children’s capacity to identify mismatches between sights and sounds. For example, a picture of a frog might be presented with the spoken word “frog” or “cow.”  The latter, obviously incorrect, pairing generates a spark of electrical activity in the brain called a mismatch negativity about 400 ms after the stimulus was presented. This sort of task can also be used to probe contextual understanding in non-verbal children by pairing, for example, the frog with “green” or “pink.”  Even greater complexity can be tested by presenting sentences with errors in syntax. When heard by children who understand language, these syntax errors generate the same kind of brain potential.

Dr. Benasich and her colleagues developed a training protocol to get the children comfortable with the application and wearing of the EEG net as well as exposing them to all of the concepts presented in the experiment. The results revealed some similarities and some differences in the processing of sensory stimuli in the non-verbal children and this is not unexpected as they continue analyzing these data and also new data on older non-verbal children.

However the real power of using EEG techniques for assessing cognitive capacity is that it can tell us for an individual what we cannot get from standardized cognitive tests. Dr. Benasich presented results from individuals, some of whom were picking up the mismatches in the pictures and sounds, or sentence errors and some of whom did not.

This was the launching point for the next presentation from John Connolly, Ph.D., of Mc Master University. Dr. Connolly typically studies individuals who suffered traumatic brain injury and must be assessed to appropriately design rehabilitative therapy. He and his colleagues adapted a standard test for word comprehension called the Peabody Picture Vocabulary test (PPVT) into a tool that can be used by measuring brainwaves – no oral or manual response required. A grant from Autism Speaks allowed him to adapt his methods to work with non-verbal individuals with autism. By learning exactly what these non-responsive adolescents can and cannot understand, one can more appropriately design therapies to help them move to the next stage of learning.

Nicole Gage, Ph.D. of UC Irvine relayed her studies of both speech and sound processing in minimally-verbal children with autism using a different brain measurement tool called magnetoencephalography or MEG. One advantage of MEG for children is that nothing actually touches the child during the measurement. Although they must lie very still, there is no noise and the device resembles a fancy salon hair dryer. Using this technology, Dr. Gage and her colleagues are finding differences in very early in brain processing responses to tones and mature early in human development. These responses occur at the level of the auditory brainstem and may be at least partially responsible for the atypically responses measured to both tone and speech sounds observed by both Dr. Gage and other researchers at the later stages of brain processing in auditory cortex.

Lastly, but perhaps most importantly, Connie Kasari, Ph.D., of UCLA and the organizer of this special session presented her Autism Speaks-funded treatment research specially tailored for non-verbal children between the ages of 5 and 10 years old. Dr. Kasari uses structured play-based methods to build a scaffold and provide context for encouraging communication in these children. Her randomized controlled trial design encompasses treatment sites at UCLA, Vanderbilt, and Kennedy Krieger and involves the play based therapy especially designed for these children and also a treatment arm that includes an alternative and augmentative communication device. Dr. Kasari showed data from the group thus far – after three months of the six-month treatment trial. Not only are some individual children making incredible strides toward initiating functional communication, but overall 75% of the children in the study are responding to the therapy. Interestingly, looking back at the detailed assessments taken on the participating children upon their entry into the study no particular features distinguished the responders from the non-responders thus far.

These studies break new ground in reaching those with autism who cannot speak. However, the next steps will almost certainly be the most exciting. As more researchers and clinicians learn about these studies and are able to take advantage of the results presented, we will be better able to understand and assist individuals who are now non-verbal. These sentiments were perhaps captured best in the enthusiastic response the speakers received from the loved ones of those affected.

Behind the Scenes with Chief Science Officer Geri Dawson, Ph.D. at IMFAR

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.

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 www.autismtisssueprogram.org, email us at info@autismtissueprogram.org or call 1-877-333-0999.

What’s Up for the Weekend?

May 21, 2010 1 comment

Happy Friday, everyone! I hope you had a great week and are ready for the weekend ahead.

Here are some ideas …

Interested in autism research? International Meeting for Autism Research (IMFAR) brings together the world’s top scientists who will share their latest research into autism’s causes, treatments and diagnoses. It is currently taking place in Philadelphia and we will be updating media coverage and blog posts by scientists here.

Want to Walk Now for Autism Speaks? On Saturday, we have Walks in Cincinnati, Mt. Laurel (N.J.) and Wheeling (W.Va.). Sunday, we have three more in Atlanta, Ligonier (Penn.) and Paramus (N.J.). If you live near one of these towns, visit walknowforautismspeaks.org for more information and join us on Walk Day! We promise a fabulous time for you and your family.

Set your DVRs! On Saturday night at 8 p.m. EDT, NBC is re-airing this week’s episode of “Parenthood”, Team Braverman, which featured members of the family participating in a Walk Now for Autism Speaks event. Check your local listings for show information. Tune in on Sunday, May 23 at 9 p.m. EDT to NBC’s season finale of “The Celebrity Apprentice.” In the LIVE finale “Final Two Brew” Autism Speaks board member, parent and actress Holly Robinson Peete faces off against Poison’s Bret Michaels. Visit http://www.nbc.com/the-apprentice/ for more information.

I hope you and your family have a wonderful weekend!

Two Family Meetings on Autism Subtypes Set the Tone for IMFAR

May 20, 2010 1 comment

This is a guest post by Autism Speaks’ staff members Leanne Chukoskie, Ph.D., Jane Pickett, Ph.D., and Andy Shih, Ph.D.

One of the challenges in pursuing the causes of autism spectrum disorders is the heterogeneity of symptoms and life history of the individuals affected. On Wednesday, one day before the start of the International Meeting for Autism Research (IMFAR), meetings of two family foundations centered on specific genetic syndromes for autism moved past these challenges to offer hope for recovery.

The Phelan-McDermid Syndrome Foundation (PMSF) was one of the family foundations that hosted a meeting of international scientists, clinicians and parents to better understand PMSF. Katy Phelan, Ph.D. (Molecular Pathology Laboratory Network, TN) presented a characterization of the individuals affected, as many scientists working with animal models of this disorder have met very few, if any, persons with PMS.  Dr. Phelan reviewed the cluster of symptoms present typically early in life, including a “floppy” infant, general developmental delays and poor or absent speech.  She also reviewed evidence that led to the recognition that individuals with PMS had some form of mutation in the SHANK 3 gene on chromosome 22.

The meeting soon shifted to animal models and presentations from several researchers who presented greater detail about the role of the protein SHANK 3 at synapses, or junctions of neurons, which are crucial for learning and memory functions.  It was shown that SHANK 3 is responsible for tying together two receptors for the common excitatory transmitter glutamate at the synapse.  Through a series of careful experiments examining the structure and function of synapses when more or less SHANK 3 protein was present, Joseph Buxbaum, Ph.D. (Mount Sinai School of Medicine, NY) and colleagues learned that SHANK 3 controlled the physical connections that underlie plasticity of the synapses (the mechanism that underlies learning and memory).  After achieving this detailed understanding of how the system develops and stabilizes in the animal, the next step was to attempt to rescue normal function in these animals that lack SHANK 3.  A related set of receptors present on the cells (AMPA receptors) was targeted with the drug called IGF1. Injections of IGF1 into the mouse travelled across the protective barrier that encases the brain and had the desired effects on the cells, rescuing the structure and function of the synapses that had the atypical SHANK 3 proteins.

Lastly before a dinner gathering where parents scientists and clinicians can share ideas with each other more informally, Sarah Curran, Ph.D. (Kings College, London) presented on new technology that may allow the creation of stem cell lines for deeper analysis of the effect of a single individual’s mutations (the SHANK 3 gene can have mutations at several places, potentially leading to different effects on the functioning of the SHANK 3 protein) by analyzing a single complete hair from an affected person.

The Isodicentric 15 Exchange, Advocacy and Support group (IDEAS) is another family foundation that hosted a meeting of clinicians, scientists and parents.  Of the several genetic disorders that have a ‘causal’ relationship to autism, the duplication of a portion of chromosome 15q (IDIC15q) figures prominently in post-mortem brain research.  In fact, one out of every ten brain donors to the Autism Tissue Program comes from this specific population that is represented by the IDEAS organization.   A major concern of the group and a factor in the high brain donation rate in this group of only 650 known affected individuals is sudden unexplained deaths, a fact reviewed by Edwin Cook, MD (University of Illinois at Chicago) at the meeting.  Seizure activity is many of the individuals is thought to underlie their apparent vulnerability and the IDEAS group has been proactive in publicizing recommendations from their physician-advisors, including Carolyn Schanen, M.D., Ph.D. (University of Delaware) who gave the opening presentation at this meeting.  The physician-advisors also promote brain donation to understand the causes of death and look for developmental changes consistent with autism and/or epilepsy.

The meeting brought together researchers and parent advocates in a significant effort to understand the research to date and fine tune future efforts. Jerzy Wegiel, V.M.D., Ph.D. (New York Institute for Basic Research) described neuropathology in 5 brain studies completed to date that shows unexpected ongoing production of new brain cells (neurogenesis), a atypical early migration of brain cells, and distortion of the cell structure reflecting an altered course of maturation of brain cells.  Each of these brain anomalies can contribute to seizure activity and the study of brains and clinical evaluations of the donors will continue.

In conjunction with the neuropathologic examinations of brain donors, IDEAS asked its families to participate in a seizure survey.  Preliminary results from about 85 participants shows various types of seizures and onsets; results will be posted on the IDEAS site and communicated via the Autism Speaks blog.  Since sudden deaths often occurred during sleep, Sanjeev Kothare, M.D. (Children’s Hospital, Boston, MA) was present to provide information on his studies of breathing abnormalities in patients with IDIC15q.  He reviewed the clinical spectrum of duplications on chromosome 15q: epilepsy, low muscle tone, atypical facial features, moderate-severe developmental delay, and autistic behaviors.  He speculated that the increased risk of sudden death is due to abnormalities of sleep, cardio-vascular function, mitochondrial function and epilepsy.  The results of his sleep study on 5 children with IDIC15q revealed central sleep apnea that occurs when the brain does not send proper signals to the muscles that control breathing often in conjunction with seizure activity.  This very important work will continue and many of the IDEAS families have worked with their own doctors to obtain a sleep study to determine both seizure and breathing activity.

An additional highlight of the meeting was a talk by James Sutcliffe, Ph.D. (Vanderbilt University) on one of the genes of interest in the duplicated piece of chromosome 15 – the GABA B3 receptor.  GABA is the main inhibitory neurotransmitter and any dysfunction in its receptor is thought to increase brain activity and might contribute to seizures.  He is studying rare point mutation in this gene that was also found in a condition known as Childhood Absence Epilepsy.   A presentation by Larry Reiter, Ph.D. (University of Tennessee Health Science Center) focused on a subset of 15q duplications called ‘interstitial duplications’.  These are also duplications of genes in the 15q portion of the chromosome but instead of arising de novo in the child, are inherited from the mother or father. Overall, the future goals are aimed at learning more about the conditions that affect mortality such as low muscle tone, apnea and seizures.  Further genetic studies on molecular mechanisms to find drug targets will include mouse models and analysis of DNA and brain tissue.

Taken together these meetings offered a positive view for the future. Families are working closely with clinicians and researchers to find effective new therapies for genetic syndromes that present as autism. The larger hope is that as these syndromes reveal their secrets, they will provide us with new tool with which to treat other forms of autism.

Thank you to Andy Mitz, Ph.D. of NIH for providing input on the PMSF meeting.

To read complete IMFAR coverage, please visit http://www.autismspeaks.org/science/science_news/imfar_2010.php.

5|25: Celebrating Five Years of Autism Science Day 25: Autism Prevalence Reaches 1:110

February 25, 2010 Leave a comment

In honor of the anniversary of Autism Speaks’ founding on Feb 25, for the next 25 days we will be sharing stories about the many significant scientific advances that have occurred during our first five years together. Our 25th item, Autism Prevalence Reaches 1:110, is from Autism Speaks’ Top 10 Autism Research Events of 2009. 

In 2009, two major studies using different research methodologies yielded strikingly similar and eye-opening results showing that ASD affects approximately 1% of children in the United States. Based on data collected just four years earlier, it was found that ASD affected 1 out of every 150 children in the U.S. This represents a 57% increase in ASD prevalence in a relatively short period of time. Both studies also found that ASD continues to be four times more common in boys than girls.

In the first study, published in Pediatrics, authors from the U.S. Department of Health and Human Services (HHS) and the Centers for Disease Control and Prevention (CDC) collected data through the National Survey of Children’s Health (NSCH) on parent-reported diagnosis of ASD. Among a nationally representative sample of 78,000 children aged 3 to 17 years, the investigators found that 1 in 91, or an estimated 673,000 children in the U.S. had an ASD. While concerns lingered over the parent-reported nature of the data, this large-scale study set the stage for another major publication on ASD prevalence with similar results.

In December researchers at the CDC released new prevalence data collected by the Autism and Developmental Disabilities Monitoring Network (ADDM), a series of surveillance sites throughout the U.S. that maintain medical and service records on children with autism. By abstracting data and subjecting those records to stringent clinical evaluation, the authors found that approximately 1 in 110 children, 1 in 70 boys, met the criteria for ASD. This 1 in 110 statistic, based on data collected in 2006, represents a 57% increase from the 1 in 150 statistic which was based on data collected by the ADDM network in 2002 using identical research methods to the current study.

In a year that was jam-packed with publications on autism epidemiology, a number of other studies sought to investigate the reasons for the dramatic increase witnessed in autism prevalence. Researchers from Columbia University reported that approximately 25% of the rise in autism caseload in California between 1992 and 2005 could be directly attributed to changes in diagnostic criteria that resulted in a shift from mental retardation diagnosis to autism diagnosis. Therefore, converging evidence from this study and others around the world suggests that while changes in diagnostic practice may account for a portion of the increase, they cannot alone explain the rise in autism prevalence, and other factors, including environmental factors, likely play a role. One environmental factor that continues to be implicated in the increase in autism prevalence is parental age. Researchers from the California Department of Public Health reported in 2009 that parental age and particularly maternal age is a significant risk factor for autism, with a 10-year increase in maternal age increasing the odds of having a child with autism by 38% and mothers over the age of 40 at highest risk.

The prevalence studies of 2009 helped shed additional light on the immense nature of the autism public health crisis. With 1% of the U.S. population affected by ASD, and emerging data suggesting that 1% of the global population may be affected by ASD, never has the need for funding to support research into the causes and treatments of ASD been greater. In addition, these findings call attention to the necessity for more accessible diagnostic and intervention services for the growing population of those affected. In the CDC’s ADDM report and a separate study published in the Journal of the American Academy of Child and Adolescent Psychiatry, it was reported that while we can now reliably diagnosis autism spectrum disorders at two years of age, children on average are still being diagnosed at close to 6 years of age. This means that there is a large gap between the time that children can effectively be diagnosed at age 2, and the time they are actually receiving a diagnosis – valuable time lost where early intervention services can dramatically improve outcomes.

Did you know?: Autism Speaks, in partnership with the CDC, developed the International Autism Epidemiology Network, a forum to facilitate collaboration and information sharing between autism experts around the globe. Launched at the International Meeting for Autism Research (IMFAR) in May of 2005, today the network supports over 100 participants from 30 countries and its activities have resulted in over $2.5 million in targeted international epidemiology research funding from Autism Speaks. This includes the launch of two RFAs in 2008 designed specifically to better understand global autism prevalence and risk factors – click here for more information on the funded grants.

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