Autism Speaks Official Blog

This post is by Alison Komorowski, an Autism Speaks intern. Alison is a senior at The College of Holy Cross in Worcester, Mass, majoring in Economics with a Pre-Medical concentration. For the third year in a row, Autism Speaks has participated in the The College of Holy Cross Summer Internship Program. The highly competitive program provides exceptional Holy Cross sophomores and juniors with an opportunity to gain meaningful career related experience in an area related to a student’s occupational goals.

This afternoon at a lunch to commemorate the end of my summer internship at Autism Speaks, a colleague asked me if this was the first internship I’d ever had. I told her no, that I had interned part-time with a wedding planning business during spring of my sophomore year and went home that summer to shadow a local family dentist. She, like many others who I’ve told this to, looked confused as she tried to find the common thread among wedding planning, dentistry and the work I have done this summer at Autism Speaks. I went on to explain that I have yet to discover what career field I want to be in, so every time something sparks my interest I do my best to expose myself to the realities of that profession. Naturally, the follow up question was what was it that “sparked my interest” to lead me to Autism Speaks?

The answer is quite simple. Last summer I followed Alice Simcoe-Matthews’ blog as she chronicled her experience as the science intern at Autism Speaks. Through her posts I was introduced to the organization and I fell in love. With two cousins on the spectrum, I have a personal vested interest in Autism Speaks’ mission and I was impassioned at the thought of working to give a voice to those who so desperately need to be heard. As spring semester rolled around I eagerly anticipated the e-mail from the Summer Internship Program with details on how to apply. When it finally came through my inbox I read the project description for this year’s intern: Etiology intern to complete a literature research project on the economic impact on autism on society, and how intervention may influence that costs. As an Economics major in the Pre-Medical program I literally thought “this would be perfect!” I had the opportunity to interview with the science team and a week later I received an invitation to join Autism Speaks as their etiology intern, which I was more than thrilled to accept.

I could not have imagined in the weeks leading up to my first day what my experience at Autism Speaks would be like. The very morning I arrived I began working on my project which involved hours upon hours of searching for literature, reading through articles and most importantly, absorbing, understanding, and analyzing all the information I came across. Thankfully, the members of the science team were amazing mentors who let me know from day one that they were always available as a resource if I needed them. Before I knew it, I was writing a report that may eventually reach the desks of senior scientists in the fields of public health, health economics, and autism services research.

The final product, The Cost of Autism: Improving our Understanding of the Economic Impact of Autism in the Context of Early Detection among the Global Autism Community, is intended to provide the background that will allow investigators in the field to make recommendations on how to approach future cost of autism studies. It highlights the gaps in information that currently prevent a comprehensive measure of the costs of autism and makes suggestions as to how we might address these issues. Today, autism spectrum disorders (ASD) have been dubbed an urgent public health crisis by the CDC. Autism affects 1 in 110 children and 1 in 70 boys in the United States[i] and the estimated annual economic cost of autism to society is a staggering $35 billion![ii] Now, more than ever, ASD demands the attention of both public and private sectors. However, current estimates of autism’s cost to individuals, families, and society do not measure the impact that early diagnosis and intervention may have on reducing such costs. With this important information, policymakers can further advocate for members of the autism community by making informed decisions about resource allocation to enhance access to appropriate treatments. My hope is that this report can indirectly serve as an instrument for the advocacy and betterment of individuals living with and affected by ASD.

A few weeks ago as I was on my way up to my cubicle on the third floor someone in the elevator looked at the Autism Speaks’ puzzle piece pin on my shirt and asked, “So, are you a piece of the puzzle?” Although I didn’t say it out loud, I thought to myself “I sure hope so.” I stepped out of the elevator and walked into work that morning smiling as I thought about all the people at Autism Speaks, the work they do each day and the amazing things this organization has accomplished in just five years. Am I a piece of the puzzle? I think we all are.  Anyone who visits the Autism Speaks website, attends a walk, organizes a fundraiser, or cares for someone with autism is adding a piece to the puzzle that was once missing. I feel so blessed to have been given the opportunity to contribute to the mission of Autism Speaks, not to mention an internship experience that may actually help me find the career path I’ve been looking for.

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[i] Center for Disease Control and Prevention, MMWR. (2009). Prevalence of autism spectrum disorders-Autism and developmental disabilities monitoring network, United States, 2006 (58(SS10); pp1-20). Washington, DC: U.S. Government Printing Office. Retrieved June 9, 2010 from http://cdc.gov/mmwr/preview/mmwrhtml/ss5810a1.html

[ii] Ganz, M. (2006). The costs of autism. In Moldin SO, Rubenstein JLR, eds.
Understanding autism: From basic neuroscience to treatment. Boca Raton, Fla: Taylor and Francis Group.

This post is written by Liz Bell, mother of Tyler Bell, who was recently featured in an ABC World News Today segment on preparing adolescents with autism for adulthood. Liz is married to Peter Bell, Autism Speaks Executive Vice President of Programs and Services.  They have two other children, Derek and Avery. Liz is a member of the Autism Speaks Family Services Committee and was the primary author of the School Community Tool Kit. In addition, she serves on the Parent Advisory Committee for the Autism Speaks Transition Tool Kit which is under development and scheduled to be launched this fall. Liz is also a representative on the New Jersey Governor’s Council for Medical Research and Treatment for Autism.

Great, we might share the intense teaching and planning required in making the future of a young man with autism a little less uncertain. We can highlight the variable needs of this growing tide of soon-to-be adults with autism.

But “yikes!” How will my 17-year-old son behave in front of complete strangers with a camera in his face all day? What if this complicated message gets garbled, highlighting the challenges but not the gifts, the needs but not the opportunities?

Thankfully, Tyler greeted that camera with a grin on his face, and followed the flow of a familiar daily schedule in his hard working, innocent way. The ABC team turned eight hours of filming into a three-minute segment that helps to profile the needs of young people like Tyler, and hopefully initiates consideration of their place in the world. Now online, the story has sparked a conversation, which is a great thing.

But we need to keep talking. Some online comments outline the variable needs of the autism population – from college graduates who have trouble keeping a job to complex children with no language and few functional skills. We need options for all individuals on this broad spectrum. Other comments offer traditional ‘solutions.’ He can get Medicaid, sign up for get SSI, set up a special needs trust. True, these programs may provide some money, until it runs out, but how do you maximize its ability to provide a meaningful life, to establish supports that will take over once we are gone? You can place him in a sheltered workshop or a group home. Perhaps an option for the handful of individuals for whom there is space and funding, but this old model of isolated care won’t accommodate all of our kids…or be what they want. And that is the part of the conversation that we really need to move forward. How do we create the systems, opportunities and community mindset that will allow all individuals with autism the right to be safe, but also engaged, fulfilled and happy?

During that day of filming, while the rest of us were self conscious, for Tyler the camera was superfluous. But the cameraman was not, quickly noticing that, despite how hard it clearly is for Tyler to learn, he exhibits pride in accomplishment. For him, competence breeds confidence, so we teach him skills that make him feel useful and valued. We strive to fulfill his needs for humor, exercise, beauty, and joy. We want to develop a future that will allow Tyler to grow, not just to be taken care of, and to flourish.

Visioning this is a lot of responsibility for a parent, so we employed group brainstorming in a MAPS session, expertly facilitated by Dave Hasbury of Neighbours, Inc., where we explored Tyler’s strengths, likes, and possible opportunities, to keep us working in what we hope to be the right direction. We are heartened by a team of people who now have a shared perspective of where he might go.

But it is still mostly up to us to make it happen. We learn as we go. We build on strengths and we layer on, tiny step by tiny step, experiences and skills that help to create more independence, more joy. We immerse Tyler in the world and build a community that better understands him. We look to what motivates Tyler, and find ways to use his gifts to provide meaningful contributions to society and a sense of belonging. We reach out for help.

Last year, we asked the friendly owners of our local Rita’s Water Ice store if Tyler might have a volunteer job. We explained that job sampling is a big factor in strategizing for Tyler’s future. Since they had already opened their hearts to Tyler as a frequent customer, they gave him a Rita’s hat and the chance for us to work with him, as he worked for them. This year, it’s a paid job – just an hour or so a week, but an opportunity to punch a clock, have a boss and be ‘professional.’ Does he do the same work as the other teenagers there? No, but they value his smile, the fact that he joins them in dancing when they are so moved, and that he doesn’t pull out his phone to text in the middle of his shift. Yes, these are gifts, as is the perspective of Tyler’s Rita’s bosses, who recognize and celebrate his contributions.

And so Tyler earns a paycheck, the most important predictor of paid work after graduation. But he doesn’t work for that – it’s his favorite Cotton Candy water ice that compensates him for a job well done. And his pride.

After the filming, the rest of our family decided that we aren’t cut out for reality TV – life is complicated enough without having to turn off a mic to use the bathroom. But we would like to continue to be part of this conversation, in visioning meaningful lives for all families living with autism. After all, our children have a right to an amazing future.

This guest post is by Scott LeRette who writes about his son Austin, who has autism, in his blog www.austintistic.blogspot.com – which he has used to finish his book “Austintistic- Moments In Time.”  Austin, aside from having autism, has faced open-heart surgery and suffers from a rare bone disease that has left him with dozens of breaks. His goal is to raise awareness for autism in an informative and entertaining way, sharing “moments” that are both hilarious and gut-wrenching. You can follow “Austintistic” on Facebook and Twitter.

His eyes roll up in his head, just a touch, followed by the softest of smiles. He then looks down in peace. Not the quiet of one in reflection, but a quiet of the sleeping tired soul. Teleported to a place and time I’m sure I could never comprehend or feel.

His head snaps up as he stares at me. Again, the little tell-tale smile. Just a small tic of the lips, enough to tell me that Austin is checking out, shutting down. He never convulses or is racked with contortions on the ground in the throws of a grand-mal seizure. No. Austin simply and quietly lets go. Petit Mal.

And then comes sleep. A sleep I could only wish for. Among the so many things about autism I don’t understand, seizures and what they consist of for our son is such a mystery. They look so painless and simple, yet they have an obvious toll on him. Whether we get him from school or he is out playing in the yard; the physical affect is both obvious and powerful. He will sleep though the afternoon clear through to the next morning.

Austin has a handful of these a month and we are thankful that his teachers, friends and family who have a pretty good idea when they occur, what they look like, how they present.

Why does he have these seizures? Who knows? That is just one more thing that makes this crazy worldwide phenomenon of autism such an often-times frustrating thing. We do know this: There are many things about our son that we will never began to understand and comprehend. What makes this ever more complex is the fact that the experts, clinicians and thought leaders aren’t that much further ahead of us. Sure, there are great leaps and bounds with technology and therapy, but the fact remains that we have a very long way to go. Awareness?

Why do children with autism do the things they do? Verbal outbursts, physical gyrations, repetitions and movements, obsessions, compulsions and rituals – can we really say, “Oh yeah, she did this because of xyz.”

I see it this way – Austin’s brain, like yours and mine, is made up of billions of cells, neurons, synapses, connections and parts. A massive collection of microscopic proportions only the finest of neurological plumbers can begin to understand. I stress the word BEGIN. Steven Pinker, a very fine author regarding the brain leads me to many of the new thoughts I have about understanding this organism. You have heard the saying, “I have forgotten more than you will ever know” or “He has more sense in the tip of his pinky…” Pinker confirms for me that the only thing we know about the brain is that the more we know the more we realize how so very much we DONT know about it. In fact, should we or can we really, truly think we will ever figure out precisely how the brain works? One final thought from this fine author – he describes the brain in an analogy something along the lines of a car motor or even a computer. One part like a distributor cap or a faulty line of computer code can bring the entire motor to a screeching halt or the computer crashing down. He stresses – one minute piece can bring it all to a stop.

I heard once that even the smartest of smart only utilize a fraction of their brain capacity- single digit percentages. So what is going on with the other 90% of the gray matter up to anyway? More to not know. See a pattern here?

As we have watched Austin grow up, I have become more and more acutely aware of the things he says and does. Why did he say that or what made him do this? It has become somewhat of a fascination for me because, No, I may not get it figured out, but it helps me get a better feel and understand of what makes Austin tick.

I want to share with you a few things to highlight some of what I have described above and a few more thoughts that shed light or at least help us see IT better. The whys, whats, hows and huhs.

In the scope of my somewhat limited wisdom I can condense my clinical (layman’s) knowledge down to this: we don’t know, can’t know, aren’t supposed to know and will never know, much of what we don’t currently understand. I will share this showing you three unique observations.

1. Austin sees, feels and tastes things in a unique and personal way, totally unto himself. I have only recently started to understand this. Some of these observations were confirmed recently when Teresa showed me something she found on a fellow Twitterer’s page. The post on this page was something along the lines of “Sensory Overload Stimulation.” It had an attached YouTube video showing a person with ASD’s perception of a cartoon clip and how they saw, heard and processed it and then described it.

Volume fluctuating from soft to blaring loud. Fuzzy lines and edges with images skipping and colliding. There was much more, but it so reminds me of Austin and the way he talks to us in describing an event or just how he is doing during a trivial thing.

Austin will stay in his room, oftentimes for hours. He spends this time arranging and rearranging his books, CDs, DVDs and toys – all while his TV is at MAX level volume. He says he likes it that way because he knows for sure its on and he’s not alone. But then you take it to another scenario – Moonlight Bowling. Loud, shiny, crowded and flashing disco balls. This has been the classic place for and we have seen a few seizures from times just like this. Is it a combination of the things that triggers it all? I think the multiple stimuli is certainly playing into the equation that makes the timing perfect for one to happen.

2. Austin is so very typical of the average teenage boy – he loves video games, music, movies and TV. What and how he approaches these things can be a very different matter. I have watched Austin read the game manual of an XBox game many times, but if you watch closely you can see more precisely what he is doing. He reads and rereads the credits, liner pages and warnings notes. He is fascinated by the copyright, trademark and disclaimers of the particular game. He will then ask me about them and tell me the TM(not sure what it stands for) means its their game. They made it so we have to buy it from them. Interesting. What kid reads these things? Uh, zero of them. Most kids don’t even look at a game instruction booklet. Never. “Why did they make this game? When did they make it? Who created it? How did they create it?”

Why is Austin asking these far out questions? Most kids could give a flip about any of this, but for Austin, he wants to know. He wants to know something. What does he want or why is he asking these questions?

3. Austin will try to tell us something (common occurrence) when he is overly excited, animated and intent. You know he wants to tell us something, explain something cool, but the more eager and intent he is, the more we don’t understand what he is explaining or asking. And the more he tries, he gets frustrated, as do we in return. We have no earthly idea what he is saying.

We get to the point sometimes that we are annoyed or angry, I admit. But the more we don’t understand him, the more he pushes forward. It can be a vicious cycle.

Reception. Processing. Translation. These three words are what I believe get tweaked in our son’s brain. Somewhere on the path, a wire is crossed, a pipe is clogged or a piston’s not firing, causing a whole host of things to change. Change.

There is a final point to be made here and it pertains to number three, the last example I gave you. This I think really is profound so I want you to remember and think about what I will describe.

After Austin has one of those times where WE fail to recognize and understand what he is saying, a peculiar thing may happen. It may be after a week, a month or even a year goes by, but these moments are most memorable and not all uncommon. Someone else may say or do something. It may be a simply random comment from a friend or a stranger. It could be in person, on a billboard or off of a TV show. Teresa will look at me and say, “Oh my. Did you hear that?” Something happened which triggers our memory of what Austin was trying to unsuccessfully explain to us and after seeing something that was somewhat similar is seen in another context, it makes total sense.

We had gotten a bit annoyed, angry or just brushed off what he was saying as being silly, whatever. In reality, the way HE saw it and then translated it was something beyond OUR own understanding. He knew what he wanted us to know and hear but his brain just translated it in a fashion that was Greek to us. You with me? What he was trying to tell us was right.

Sometimes it was a complex and detailed description of an event or subject and we did not give him more time and interest than we maybe should have. But, but we are learning and that is important (this is called AWARENESS). How Auz sees things may never be like the average bear, but then again, who wants to be average. Right Auz?

P.S. – Why the title? Cool state, Auz was born there and its a great song. Listen to it sometime, think of Austin and smile.  Have a great day.

“In Their Own Words” is a series within the Autism Speaks blog which shares the voices of people who have autism, as well as their loved ones. 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.

Adaptive program helps kids get their kicks (North Shore News)
Sheryl Lactin knows just what it takes to block her way through a karate match — she also knows how to manoeuvre her career into uncharted territory and, along the way, open up pathways for others. Read more.

Local dietitian gives grocery store tours to promote good eating habits (Billings, Mont.)
Dietitian Tracy Konoske says the pressure food has on society — especially women — is enormous. Read more.

Local Group Helps Parents, Children With Special Needs (Anthony, N.M.)
Tresco Tots has been serving the children of Southern New Mexico for more than forty years. A non-profit, early intervention agency, Tresco Tots is often the first stop for parents who learn their son or daughter may have some kind of developmental delay or disability. Read more.

Camp Barnabas Provides Life-Changing Opportunities for People with Special Needs (Purdy, Mo.)
There are plenty of camps for kids to attend around Northwest Arkansas like Camp Kanakuk or Camp War Eagle, but not many for kids with special needs. Camp Barnabas has filled that void. Read more.

MV neighbors object to development housing (Merrillville, Ind.)
IN-PACT Inc. crossed one hurdle Tuesday in its proposal to turn a two-unit apartment building at 7079 Broadway into a six-unit residential facility. But the agency has a few more obstacles to overcome, including objections by neighboring residents. Read more.

Benefits of giving up gluten are few, unless you’re a celiac (TheStar)
Going gluten-free used to be a culinary death sentence, the heavy price of relief for those with celiac disease. Read more.

Disabled boy’s plea touches Elton’s heart (Jarrow & Hebburn Gazette)
Rocket Man Sir Elton John is helping a South Tyneside disabled boy’s Disney Dream achieve lift-off.
Read more.

Fury as minister steps in over school closures (Scotland)
Glasgow City Council’s plans to close three schools are to be investigated by the Scottish Government.Education Secretary Mike Russell has moved to “call in” the proposed closure of two special schools and a primary school in the city after Her Majesty’s Inspectorate of Education (HMIE) voiced concerns about the planned closure of Stonedyke Primary, St Joan of Arc School and St Aidan’s School. Read more.

N.J. education chief supports multiple institutions having oversight of charter schools (Trenton, N.J.)
State Education Commissioner Bret Schundler Monday said he’s willing to give up the state’s monopoly on authorizing and regulating charter schools — as long as he gets to choose who the other decision-makers are. Read more.

Some Oregon Schools Teach Social Skills (Portland, Ore.)
As kids head back to school in Oregon and across the country, some of their teachers and parents are realizing many children could use some help with the simplest of social skills, such as how to greet a stranger or carry on a casual conversation. Read more.

This post is written by Shelley Hendrix, Autism Speaks’  Director of State Advocacy Relations. She currently resides in Baton Rouge, La. with her two children, Liam and Mairin.  Liam was diagnosed with autism age the age of two in 1998.  She began advocating on behalf of her son and other children with autism almost from day one.

Autism Speaks’ approach to advocacy in both our Federal and State-based legislative initiatives uses a specific formula – our “cookie recipe.” My last blog focused on flour, representing our grassroots effort, as one of the most fundamental ingredients for any cookie recipe.  While flour creates a foundation for the cookie, other essential ingredients are required to make the final tasty treat.  Each state’s “cookie,” its autism insurance reform initiative, is shaped, flavored and decorated differently but when we follow this tried and true recipe, we celebrate with a big, batch of cookies.

In our recipe, eggs represent the unity and focus in our community.  Just one egg has 13 essential nutrients and while the cost of other foods skyrocket in today’s economy, the simple egg remains one of nature’s best bargains with regard to high-quality protein foods. Eggs consist of two basic parts held together by a fragile shell. Outward appearances indicate that the fragile egg is contained and unified.  Once you crack that shell, you can see those separate distinct parts – each part of the egg serving a different, but important, purpose for the egg as a whole.

When baking, we know that to move forward and make a great cookie, the egg must be whisked to unify its distinct parts so that it can do what it was meant to do for the cookie overall – serve as a bonding ingredient – unifying the flour, sugar, butter and pinch of salt.

The “egg” in our recipe represents the autism community’s unity and focus on the legislative initiatives we work on to improve our children’s lives. Before we take a crack at these initiatives, we are held together with our fragile shell that unifies us – our children who have autism.  As we move through the process of working on these projects, we crack that egg to find different parts inside – parts of our community that all serve essential purposes.  Parts which, when working separately, would not have the same effect as when they are whisked together in unison and focused.

Every time our family bakes anything, Liam and Mairin argue over who gets to crack and whisk the eggs.  To them it is more fun than measuring out the other ingredients.  It is for me, too.  Over the last three years, I have enjoyed nothing more than working with a variety of different people in the autism community who hail from different philosophies on how their children developed autism, how autism should be treated not to mention the different socio-economic statuses, educational levels and backgrounds.  I love working to whisk them all together and make that “cookie’s” ingredients blend successfully.  I have witnessed firsthand what a unified community can accomplish when they refuse to be divided.

Unity for the autism community is a fragile egg indeed.  But it is a low-cost, big -bargain, high-protein source that should fuel us, bond us and make us better, and more incredible, than we would ever be without it.

To learn more about Autism Votes, take action today on autism insurance reform legislation in your state, or find out about Autism Speaks’ federal legislative advocacy agenda, please visit www.autismvotes.org

About one in every 10,000 babies is born with two few or too many genes on chromosome 15.  The likelihood that these babies will be on the autism spectrum is as high as 80%, making these rare genetic events a target for autism research.

Gene targets.  Of the estimated 30,000 genes that make up the human genome, between 700-900 genes lie on chromosome 15.  Specific segments of this chromosome are associated with autism, narrowing the number of genes of interest to fewer than 30.  These genes are located on the long arm of chromosome 15, called q.  The most studied region so far is known as 15q11-13, where 11-13 describes an exact physical location on the chromosome (the region in red in the picture).   Sometimes babies will have extra copies within this area, beyond the normal two parental 15q11-13 regions, resulting in 3, 4, 5, or even 6 extra copies of all the genes in the duplicated region.  In other cases, portions of this region are deleted, leaving no copies of these genes.

How do chromosome copy variations occur?   Autism Speaks interviewed a key researcher, Dr. Carolyn Schanen, in an article ‘Understanding the Role of Chromosome 15 in Autism’, that explains these events in detail (link to e-Speaks).   The basic concept is that, during cell division, the DNA sequences of our chromosomes literally break apart and recombine; during this process, sometimes there is an aberrant duplication of genetic material.  Some forms of 15q11-13 duplications are inherited and some occur in the child and are not found in the parents.  Sorting out all of the possibilities is one of the goals of the research of 15q duplication and deletions.

Overlapping syndromes in 15q11-13. Deletions of genes in the 15q11-13 region are associated with Angelman’s Syndrome or Prader-Willi Syndrome, whereas duplication of such genes results in a different syndrome (15q11-13 Duplication Syndrome).  A syndrome is named when common physical features or behaviors are observed.  Prader-Willi occurs in about 1 in every 10,000 births and is characterized by hypotonia, hyperphagia (obsessive eating = characteristic weight gain) and diagnosis of an Autism Spectrum Disorder (ASD) in 25-45% of individuals.  The occurrence of Angleman Syndrome is about 1/12,000 and is characterized by sleep disturbance, ataxia (unstable walking), frequent laughter, excitable personality and hand flapping movements.  ASD is also linked with this syndrome.

Babies with 15q11-13 duplications typically have hypotonia (low muscle tone), minor facial differences (nose, eyes, ears), intellectual disability and are diagnosed with autism spectrum disorder.  Seizures can be present in the newborn or develop later resulting in epilepsy that is hard to control, and sometimes lethal.

What are these genes doing? A gene’s job is to be a faithful blueprint of information, such as the code for the production of a protein.  The level of production of any particular protein is carefully regulated by the cell and irregularities in the levels of proteins can impair cell function, or even lead to cell death.

For example, the product of gene UBE3A in the 15q11-13 region is involved in targeting proteins to be broken down (degraded) within cells and deficits are linked to brain pathology in both Angelman’s Syndrome and autism.  Another gene in the region, called ABPA2, makes a protein crucial in getting neurotransmitters out of neurons.  And the CHRNA7 gene is an acetylcholine receptor that mediates fast signal transmission at synapses.  The general idea is that too little of these gene products would be linked to low muscle tone and ataxia.  A new report from an international group shows that deletion of genes at 15q13.3 is linked to epilepsy.  Three genes in the 15q11-13 region make protein subunits that need to aggregate with other subunits to form the receptor for the brain’s main inhibitory neurotransmitter, GABA.  The extra copies are thought to create an unstable receptor and the lack on inhibition leads to excessive cell firing (seizures).  Researchers are just beginning to measure gene products in brain cells of those with 15q duplications.

Changes in the brain. A special project evolved to thoroughly examine postmortem brain tissue of young adults and children with 15q duplications.  In 2006, sudden deaths in otherwise healthy individuals with 15q duplications created a concern about mortality risk in these families (Isodicentric 15q Exchange Advocacy and Support–  IDEAS) posted a Physician Advisory on their site at to provide information to concerned parents.  The group also encouraged families to request an autopsy in the event of death as well as brain donation to the Autism Speaks’ Autism Tissue Program (ATP).   Since then there have been 10 brain donations and in collaboration with the New York Institute for Basic Research, this tissue has been made available for research.  The preliminary results show a disorganization of cell production and placement.  The arrow in this picture of a brain section of a preadolescent boy shows a whole extra row of cells that are not typically seen in a region of the hippocampus termed the dentate gyrus, an area of the brain associated with memory and attention functions.  Disturbances of brain architecture like this are linked to alterations in brain cognitive function, and often to seizure activity.

Many more changes have been observed that will be described as the research continues.  The goal is to link anatomical changes to specific types of gene copy variations and behavioral characteristics linked to autism that include social deficits, communication deficits, ritualistic behaviors, mental retardation, aggression, anxiety, epilepsy, sensory abnormalities, sleep disorder as well as unique abilities.  These behaviors are generated by the brain and it will take time, effort and funds to keep up with the discovery of syndromes identified by chromosome copy variations (an abnormal number of chromosomes is called aneuploidy) and the particular characteristics of those with the disorders and the patterns of brain changes seen by researchers.

This understanding of how genes contribute to physical features and behavioral characteristics requires ongoing support by dedicated families who are partnering with scientists to help better understand their child’s disorder.  With increased understanding of the underlying biological processes, we may someday be able to develop treatments that can significantly reduce the impairments associated with these conditions.   Contribution of biomaterial resources like DNA and brain donation is vital to this effort.

Additional reading.   An excellent open access article by another of the science advisors, Agatino Battaglia, is  http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2613132.  Brain research papers by investigators focused on autism and related disorders are posted on www.atpportal.org.

Autism Speaks’ Autism Tissue Program supports specialized neuropathology  research by providing approved scientists access to the most rare and necessary of resources, post mortem human brain tissue. We wish to recognize the commitment and generosity by our ATP donor families. More information can be found at www.autismtissueprogram.org or call 877-333-0999 for information or to initiate a brain donation.

In a story scheduled to air tonight, ABC World News Tonight with Diane Sawyer will feature Autism Speaks Executive Vice President of Programs and Services Peter Bell and his family in a segment on preparing adolescents with autism for life as adults. ABC recently spent the day following Peter and his wife Liz at home as they build a transition program for their 17 -year-old son Tyler, who has autism. The segment will highlight the challenges many families face in preparing their children for adulthood when educational entitlements go away and services are limited and opportunities are few. For more information on what Autism Speaks and other organizations are doing to improve the outlook for adults with autism, please visit Advancing Future for Adults with Autism.

Click here to find the viewing time in your area.

This morning’s riddle – what do autism and a mullet have in common?

Adrien and Aaron are eight-year-old twins; Adrien is nonverbal and has autism. Since age four, Aaron has donated “every penny he has received” to Autism Speaks, starting with change he found on the ground. He is now taking his fundraising capabilities to a new level. He is going to shave his head the second week of October and is accepting donations. He hopes to raise $200.

(Here’s where a great story becomes even better.)

Their Uncle Virgil (pictured here) has offered to cut off his beloved 16-year-old mullet, IF Aaron is able to reach $5,000 in donations for Autism Speaks. And, he will donate his lovely locks to a worthy organization like Locks of Love.

In my opinion, everyone wins. Donate to Hairs To Adrien For Autism, benefiting Autism Speaks. Even one dollar will help. Check out his Facebook page and be sure to share it. And be sure to thank Aaron and Uncle Virgil for their efforts!

Telling his story (Montrose, N.Y.)
Elijah Shaheen has wanted to be a filmmaker for most of his 14 years. The Montrose teen is a huge fan of movies, so it made sense that when he wrote a play it would be called “The Movie Story.” Read more.

Over 350 attend autism summit (Australia)
Living with autism can sometimes feel as though the world is upside down. More than 350 people attended a national summit on the Sunshine Coast yesterday to discuss ways to turn perspectives around. Read more.

Joining Hands helps young lives (Daily Commerical)
Scarlett, a 17-year-old Groveland girl, has a rare type of seize disorder and cannot walk without assistance. Oscar, 7, of Eustis has cerebral palsy, autism and suffers with bilateral facial paralysis. Both children are among several youths that Joining Hands Inc., a nonprofit Lake County group, strives to provide devices to help in their everyday lives. Read more.

Nine-year-old has book published (Prior Lake, Minn.)
Nine-year-olds aren’t old enough to drive, work full-time jobs or even see PG-13-rated movies. But Prior Lake resident Davis Christian Smith, also known as D.C., has demonstrated that they can still do a lot of things, including writing and self-publishing books. Read more.

Seminar explains special needs advocacy (Jacksonsun.com)
For those who care for children with special needs, the laws, paperwork and policies related to being their advocates can become overwhelming. Read more.