Autism Speaks Official Blog

Guest Blog: Jen Foss-Feig, Weatherstone Fellow

 Exciting advances in understanding brain differences in autism spectrum disorders (ASD) were a major focus of the first day of this year’s International Meeting for Autism Research (IMFAR) meeting in Philadelphia. These findings have been precipitated by remarkable growth in technology and discussion at the meeting has focused on how new methods are being applied, as well as the areas that should be emphasized in future research.

 One of the many highlights was Thursday morning’s Invited Educational Symposium, which involved talks on neurogenetics, an emerging field of research dedicated to finding relations among genes, behavior, and brain functioning. These topics have previously been addressed by distinct research groups and methodologies, making this avenue of integrative research a novel approach for the autism field. As individual differences among individuals with ASD are becoming increasingly clear, a major focus of neurogenetic research is to understand and characterize the heterogeneity observed in the behavioral presentation of children with autism.

 The importance of studying unaffected siblings of those with heritable developmental and psychiatric disorders was also emphasized. Unaffected siblings share approximately 50% of their genes with their affected sibling, yet may also carry genes serving a protective function. As such, talks highlighted the importance of studying this unique population as a window into a better understanding of autism itself. One speaker explained that genes create a “vulnerable brain” which in turn puts one at risk for a disorder. By understanding how genes affect brain structure and function, we may be able to better understand risk for disorders such as autism, discover new potential medication targets, and develop novel approaches for behavioral intervention.

 A new format this year brings together researchers interested in similar topics for Special Interest Groups. In the EEG and MEG interest group, researchers came together to discuss the current state of research on this topic, as well as promising new developments for the future. After discussing the current state of methodology, the larger group broke into smaller groups according to different research interests, including research on infants, sensory processing, social functioning, and language. Within each group, researchers were able to discuss their individual research projects, discover opportunities for future scientific collaboration, and brainstorm strategies for addressing obstacles related to data collection and interpretation.

 Advances in functional magnetic resonance imaging (fMRI) technology and data collection techniques have allowed inclusion of younger children and infants in this important field of research. For example, by conducting brain scans during natural sleep, researchers have gained invaluable information about how language is processed in the brain of infants later diagnosed with ASD. By investigating functional changes occurring during specific vulnerable time points, scientists will ultimately learn how to develop early intervention programs that can affect the brain functioning in infants and toddlers.

 IMFAR is bringing together scientists with diverse backgrounds and expertise to create new collaborations and encourage innovative, integrative, and translational research. With two more days of talks, poster sessions, and interest groups, the remainder of IMFAR 2010 promises to reveal even more exciting new findings and additional developments in research techniques, ultimately contributing to our knowledge on how to best understand and treat ASD.

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

Guest Blogger: Ashley A. Scott-Van Zeeland, Ph.D., postdoctoral fellow at Scripps Genomic Medicine, Scripps Translational Science Institute. Dr. Scott-Van Zeeland was just awarded the INSAR prize for the best research dissertation in autism at IMFAR on Thursday evening. 

 An introduction to the cutting-edge field of neuro-imaging genetics kicked off the Invited Educational Symposium series for IMFAR 2010. Moderated by Dr. Lea Davis, attendees were treated to three presentations describing how the combination of neuroimaging and genetics could be leveraged to gain insight into autism.

 The basic tenant of imaging genetics is that brain function and structure are a step closer to the gene ‘action’, and can better reveal associations between specific brain processes and genes. This is in contrast to traditional genetics studies in which a categorical classification of “Autism” versus “Control” is typically used. Neuroimaging presents a unique opportunity to look at the living brain and search for genes that influence patterns of brain function or structure. Importantly, measures of brain structure tend to be stable over time and highly heritable (similar between family members), making these measures appropriate for genetic studies.

 Dr. Judith Piggot, an Assistant Professor from UCLA, presented the first talk of the session. In addition to introducing the audience to the concept of imaging genetics, she described some of the hurdles that imaging genetics in autism, in particular, must address. Dr. Piggot noted that although autism is one of the most genetic of complex neurodevelopmental disorders, the search for the causative genes has been hampered by the large amount of heterogeneity, or unique causes and presentations of autism. One way imaging genetics can move the field forward is to use brain imaging to identify more similar patient groups in which the genetic study can be performed. For example, a researcher could first identify a group of individuals who share abnormal brain activity during a face-processing task, and then use this brain imaging-based outcome to search for associated genes. Additional hurdles include difficulties in collecting the brain imaging and blood samples necessary to do this work, as well as issues related to statistical analysis.

 Next, Dr. Joseph Callicott, Chief of the Unit on Dynamic Imaging Genetics (UDIG) within the Clinical Brain Disorders Branch of the NIMH, described imaging genetics approaches that have been utilized in the study of schizophrenia, highlighting how the autism community can avoid some of the pitfalls that were encountered in the very early days of this state-of-the art technique. Dr. Callicott’s group looks not only at individuals affected with schizophrenia and healthy controls, but also includes unaffected siblings of the patient. Siblings share 50% of their genetic makeup, likely including some of the genes that predispose to the disorder, yet remain unaffected. Utilizing this information can help pinpoint which genes contribute to shared features of brain function and provide greater insight into how multiple genes contribute to “building a brain that is vulnerable to illness.”  He also presented results from previous imaging genetics studies that found certain genes have a broad and generalized effect on brain function, whereas others show effects limited to certain cognitive functions and brain regions. Results like these fulfill the greatest promise for the application of imaging genetics studies to autism, because they have significant impacts for drug targets and should be considered during drug development.

Dr. Thomas Wassink from the University of Iowa concluded the session, presenting recent work his group has done on the serotonin pathway and brain function in children with autism and children with Fragile X (FraX), a related disorder. Between 1-3% of children identified with an autism spectrum disorder are also found to have the FraX mutation, and there is significant overlap in clinical and related features of the two disorders. Both FraX and autism show increased grey matter (cell bodies) and white matter (connections between cells) compared to typical populations. Dr. Wassink’s studies focused on two genes involved in serotonin levels in the brain, the serotonin transporter (SERT) and an enzyme that inactivates serotonin, monoamine oxidase A (MAOA). One of the most dramatic findings presented was that the low activity version of MAOA translated to a roughly 4% increase in grey matter volume in both FraX and autism (Davis, L.K., et al. 2009). This links the serotonin pathway to the shared feature of enlarged brain volume in both autism and FraX.

 A consistent and important message to researchers was conveyed during this educational seminar: Although there may be some unique practical difficulties associated with both neuroimaging and genetics, neuroimaging laboratories should strive to collect DNA samples from every participant to fulfill the promise of imaging genetics to identify the effects of candidate genes in the brain and potentially impact drug development.

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

Guest blogger: Doug Compton is a parent advocate and a scientist

Today I attended the first day of the 9th annual International Meeting for Autism Research, after a five year hiatus. Today, we are over 1,600 strong in attendance, and the emotional feeling as a parent of a 17 year-old autistic teenager is overwhelming. The feeling as a scientist is less emotional, but equally overwhelming. The science is extensive and top notch.  I attend scientific meetings regularly for my career, but not usually with a tear in my eye and big smile on my face.

This meeting is a tribute to all advocates, to every person who loves a person with autism and who speaks on their behalf. The advocates started this meeting, because they knew they needed the world’s scientists, doctors, and therapists to come together to make progress for our loved ones.  Soon after Cure Autism Now, and the National Alliance for Autism Research, and the Mind Institute became established, the three groups put aside their differences to come together to plant a common seed. It wasn’t easy to pull off in such a short time, but within a year of our first conference call, we all walked into a dream come true. My personal thanks to Portia, Eric, and David. So many others were involved, but without their commitment, we wouldn’t be here today.

At the first IMFAR meeting, nearly everyone either knew each other or recognized each other. We all breathed a sigh of relief that IMFAR was born, and hope that it would grow and flourish.

Ten years later, it has more than flourished. I recognize many familiar faces, but new scientists outnumber the groundbreakers, those who stuck to autism research when there was little interest, and little funding. My new friend Daniel made a strong statement about the success and importance of this meeting to the autism research community: after a year of global economic stress, the attendance this year has grown from last year. This group is growing and committed. The spectrum of attendees is as diverse as autism. From students to retired professors and doctors, from private industry to government scientists, from brain imaging scientists to geneticists to animal modelers to epidemiologists to therapists and teachers, all trying to push the science envelope to develop new approaches to improve the lives of all people with ASD. And they have come from all over the world.

During the breaks, there is enthusiasm in room and hallway conversation that is contagious. Scientists seeking out others, often from a completely different field, knowing that everyone gains when knowledge is shared. Ideas and collaborations pop up, introductions are made. Hopefully, new lifelong research partners are meeting each other for the first time because of this meeting. I try to introduce as many new faces to people I know that may be able to feed off of each other’s expertise.

As a parent, this energy is inspirational and brings a new spark of hope to a worn out advocate and scientist whose emotional side as a father is impatient. Everywhere here there is momentum and progress being made. And the message I keep hearing, over and over from speakers, is that they have an obligation to U.S.: To the families, to those affected. We ended the day by honoring Dr. Edward Ritvo with a Lifetime Achievement award. The last thing he said after an inspirational talk, was that “It is your responsibility to help families”. The crowd responded with a standing ovation, then joined together to talk more autism in a social setting where the conversations were energetic, loud, and constant. IMFAR is a good example that advocacy works. Speak up today for autism, you never know what might come of it.

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

Autism Speaks Chief Science Officer Geri Dawson, Ph.D., opened Friday’s IMFAR session as the first speaker of the day. Dr. Dawson spoke about Autism Speaks research portfolio and advances being made.

Over 1700 scientists, clinicians and family members are on site at the 9th Annual International Meeting for Autism Research in Philadelphia. At Wednesday’s press conference, David Mandell, Sc.D., welcomed the media to IMFAR and gave a broad overview of the research that would be presented. He explained how research into causes of autism benefits treatments. The pathways of research are growing stronger – identification of genes allows for the creation of animal models to understand the biological processes. Compounds and treatments can then be developed to correct the processes.

Some of the big stories that the media has picked up on include research by Brian Freedman, Ph.D. and the team at Kennedy Krieger debunking the myth of significantly higher divorce rates among families who have children with autism. His research showed that the percent of children with ASD living in a two-parent biological or adoptive household was close to the percent of children without ASD in such a family structure – 64 percent vs. 65 percent. That percent held even when the researchers took into account other factors that could have affected family structure, such as socioeconomic status or demographics.

Another study garnering at lot of interest was done by Susan Hyman, M.D. at the University of Rochester. Her team’s research showed that removing gluten and dairy from the diet did not improve the condition in the 22 children tested. While many families adhere to the gluten free casein free diet, Dr. Hyman’s team saw not favorable affects on attention, sleep and stool patterns.

The conference continues through Saturday. To read complete coverage from IMFAR, please visit http://www.autismspeaks.org/science/science_news/imfar_2010.php

Do you have a loved one with autism who is graduating? We want you share your photos. Whether it is pre-school or college – share your graduation photos at http://www.flickr.com/groups/autismspeaks_graduation/.

Help us make this slideshow the largest collection of graduation photos celebrating our loved ones’ accomplishments!

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!

Many thanks to Peter Krause, Monica Potter, and Max Burkholder of NBC’s “Parenthood” who filmed this PSA to raise awareness about autism and Autism Speaks. This PSA, in the “The More You Know” series, aired after Tuesday night’s episode, Team Braverman, which featured members of the family participating in a Walk Now for Autism Speaks event.

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.

When people learn that my 23-year-old son, Matthew, has autism, the first question they ask is “is he mild or severe?” Even though I’ve been asked the question many, many times, I have a hard time answering it.

“He’s super quirky and socially inept,” I’ve been known to say, “and he wants a girlfriend in the worst way. It’s nearly impossible to make any kind of friend when you’re socially inept so I guess that makes his ‘case’ severe.”

Then I’ll give them an example. Here is my latest:

I took Matthew on a weekend trip from our home in the San Francisco Bay Area to Spokane,  Washington. He’s been obsessed with visiting every state in the U.S., and after studying his atlas, he figured we could hit Washington, Idaho and Montana all in a day with time for lunch at a place where he could order pizza and fries.

“We could even go to Canada,” I suggested.

“Canada is not a state. Only states,” Matthew replied flatly, “and we’re not going to talk about it anymore.”

As soon as our plane landed, we picked up our rental car and started our journey, listening to Roy Orbison, the Beatles and Jimmy Buffett CDs that Matthew had stowed in his backpack. There was little conversation except for when we saw state welcome signs. “WELCOME TO IDAHO!” Matthew would announce with a face-breaking smile. Those moments alone, along with the breathtaking scenery, made the trip worthwhile. I was struck by how well this trip was going. I was actually looking forward to the fact that we had another entire day to explore the area some more.

After turning around after the Montana border, I asked Matthew where we should have dinner. Idaho or Washington?

“We had lunch in Idaho. We should have dinner in Washington.”

When we arrived at out hotel in Spokane and asked for a restaurant recommendation, the trouble started.

When I planned the trip to Washington, I could never have known that the hotel I picked was also the hotel that a team of female college lacrosse players had also selected, and that they would be bouncing around the pool (right by the front desk) in bikinis. I could never have known that they would mistake handsome Matthew for a “neurotypical” 23-year-old man, and invite him to join them in the jacuzzi later. I could not have predicted that after a quick dinner in the hotel restaurant, Matthew would wait by the jacuzzi for two hours until the girls showed up, and that they would giggle nervously when they figured out that Matthew was not what they expected – and then vanish.

Once back in our hotel room, as I tried to comfort my sobbing son, I thought of all the times I had said “don’t worry. You’ll meet a nice girl someday.” It occurred to me that the only way that if Matthew was going to have any kind of a friendship with a woman, I was going to need to help him.

And I developed a plan.

To learn more about my plan, and to follow its progression, go here.

Will the road ahead be tricky? You bet! But it is worth traveling for the sake of all our kids as they face adulthood.

Wish me luck.

This “In Their Own Words” essay is by Laura Shumaker. Laura is the author of “A REGULAR GUY: GROWING UP WITH AUTISM.” Join the discussion about her book on Facebook.

If you have a story you wish to share about your personal experience with autism, please send it to editors@autismspeaks.org. Autism Speaks reserves the right to edit contributions for space, style and content. Because of the volume of submissions, not all can be published on the site.

Guggenheim and Grammy and grants… Oh, my! (Montreal, Quebec)
If someone told you that McGill researchers received grants from the Grammy and Guggenheim Foundations, you might be forgiven for thinking: “Schulich” and “Arts.” But you would be wrong. The organizations are funding cutting-edge research in the Faculty of Dentistry and at the Montreal Neurological Institute (MNI). Read more.

Theresa May halts Gary McKinnon’s legal battle against extradition to America (England)
Gary McKinnon has received a double boost in his five year battle against being extradited to America to face computer hacking charges. Read more.

Parents of Autistic Children No More Likely To Divorce Than Other Parents (EMaxHealth)
There is a pervasive myth that parents of autistic children have a high divorce rate – as much as 80%, which is twice that of the US divorce rate for first marriages. A new study from the Center for Autism and Related Disorders at the Kennedy Krieger Institute in Baltimore has found that this in fact is untrue, and that parents of autistic children have about the same divorce rate as other parents. Read more.

Chinese organization offers hope to families struggling with autism (Autism Support Network)
China. Autism. These are two terms seldom heard together. While China’s influence on the world is wide spread, and is fast increasing its sizable power not only in manufacturing but technology and adoption of Western practices, the world’s most populated nation has been relatively quiet when it comes to autism. Read more.

Super Singer Martin Fronts TV Band (Wigan Today)
A TALENTED teenager with learning disabilities has showcased his incredible voice to millions of TV viewers. Martin Finn, who attends Landgate School, in Ashton, is appearing on the BBC Three show Autistic Superstars. Read more.

Studies Link Infertility Treatments to Autism (TIME)
Every parent of a child with autism wonders what might have caused the disorder. Does it secretly run in the family? Was there a toxic exposure during pregnancy? An infection in early infancy? Was the mother or father too old? Read more.

Jailed for stabbing neighbour to death (UK)
A MAN who stabbed his defenceless neighbour 24 times after an argument has been jailed for life.John Lesbirel, aged 42, grabbed a knife from the kitchen of his victim’s home and launched a “frenzied” attack on Kevin Fielding, who had Asperger’s syndrome, a form of autism. Read more.

Study: Gluten-free diets do not improve autism behavior (CNN)
Keeping the proteins found in wheat, barley, rye and dairy out of the diets of children with autism does not lead to behavior improvements, new research has found. Read more.