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In Their Own Words – Thank You

November 22, 2010 5 comments

This “In Their Own Words” post is by Nicholas James DeTommaso. Nicholas recently earned the high distinction of Eagle Scout by creating a website to document and archive the photos,memorabilia and create oral histories of the local American Legion Post 1718 following the sale of their building. He now attends Cooper Union for the Advancement of Arts and Sciences in New York City on full scholarship. Nicholas’s hopes to develop video games and  programming as social learning tools for those who find normal socialization difficult.

At two years old I stopped crying and laughing out loud; I had lost my vocabulary word by word and, I no longer laughed or cried out loud. I had autism, specifically, high-functioning Asperger Syndrome. Communication skills were nonexistent. I had to relearn all of my vocabulary. Word by word, I gained it back, but as I got older, there were social ramifications—talking to new friends was tough. I had a few quirks, sure—I was frustrated at seemingly random times. One other thing—I never said, “Thank you.”

It seemed I could develop friendships and keep them by playing video games. How could something designed for mindless entertainment help an autistic child improve communication and social skills? As James Paul Gee has stated in his 2003 book What Video Games Have to Teach Us About Learning and Literacy, “The video game environment is an environment where everyone has equal access and is treated equitably.” That even starting field was the door through which I could now enter the social world of play.

The logic of computer programming and electrical engineering is fascinating to me. The art of creating programs and to see them work through—to me there is no feeling quite like it. It is a feeling of creation, of satisfaction. By building on these known basics, I’d like to create games, learning tools through fun, which could start autistic children to not only communicate, but also grow socially, in the way I did.

My gift from others, my ability to speak and act socially, is a gift I have never forgotten. I frequently remind myself how lucky I am to have received the help I have over the years, and to that end I always endeavor to give back. In doing so, I not only feel the satisfaction of helping those less fortunate than I, but I also feel happy to repay in part the gifts given to me. Service to others has always been a tenet of my family, and my participation in volunteer groups such as the Boy Scouts, the Red Cross, and my church gives me the opportunity to do just that. I suppose, in the end, that it’s my way of saying, “thank you.”

The Emerging Neuroscience of Autism: an Opportunity to Learn and to Share

November 22, 2010 9 comments

Autism is a complex disorder.  Answers will be found by taking multi-disciplinary approaches. A broad vision of autism spectrum disorder (ASD) considers how the brain develops and affects cognition, what treatments work for core symptoms, and how ASD changes over the lifespan. However, opportunities for scientists to appreciate the broad vision and diversity of approaches are unfortunately few.

This year a special 2-day conference on autism was held prior to the annual Society for Neuroscience meeting in San Diego, giving scientists an opportunity to focus on ASD and share ideas. The conference, called The Emerging Neuroscience of Autism Spectrum Disorders: Etiologic Insights; Treatment Opportunities, offered an overview of current autism research from many of the world’s leading autism researchers.

There were two strong themes in the meeting. The first was that autism research has historically studied different groups of children at specific time points. This kind of study is known as cross-sectional research. There has been comparatively little research on how children change over time, known as longitudinal research. Given that ASD is a developmental disorder which changes over the lifespan, more longitudinal research is needed. The second theme highlighted what we can learn from the incredible diversity of symptom and subtypes of ASD.  Future ASD research demands a greater focus on individual differences instead of the common comparisons between averages derived from groups of individuals with ASD and typically-developed individuals.

Biological mechanisms

The first session of the meeting included a review of what is known about autism risk genes. Steve Scherer, M.D. (University of Toronto) described how small variations in the number of copies of a piece of genetic code (copy number variations, CNVs) can be risk factors for ASD. These CNVs may be inherited or occur for the first time in the individual with ASD  (de novo). Similar CNVs have also been identified in ADHD, schizophrenia and bipolar disorder, suggesting that there may be some common pathways underlying related developmental and psychiatric disorders. The incredible advances in genetic research, in no small part from Dr. Scherer and the Autism Genome Project, enable scientists to explore how these genetic variations affect brain development in animal models and provide clues into the underlying biology of ASD.

Declan Murphy, M.D. (Institute of Psychiatry, UK) impressed the audience with his proposal that brain imaging could be used to assist future clinicians in the diagnosis of ASD. The high costs of diagnosing individuals with ASD in Dr. Murphy’s South London community clinic motivated him to explore new methods.  He used statistical methods combined with functional brain imaging to identify brain networks that may be different in adults with ASD. The use of brain scans may one day make the diagnosing ASD cheaper, quicker and potentially more accurate.

Cognition and new treatments

Day 2 of the meeting shifted focus away from biology to cognitive development and the evaluation of behavioral interventions. Tony Charman, Ph.D., (Institute of Education, London) described his study of cognitive strengths and weaknesses in a large sample of children with ASD. He argued for the importance of understanding the unique pattern of cognitive skills found in ASD to guide neuroimaging research and developing assessments of skills for early intervention programs. Dr. Charman also identified challenges in this area of research, noting that the field must address issues, such as small sample sizes and reliance on group comparisons if we are to progress.

Cathy Lord, Ph.D., (University of Michigan) showed longitudinal data collected using the Autism Diagnostic Observation Schedule (ADOS)—a tool to identify and quantify features of ASD. Her data revealed individual differences in the development of particular skills, such as eye contact, and joint attention skills, even though overall ADOS scores remain mostly constant. Language IQ remains an important predictor of children’s expected progress. Perhaps in the future, the ADOS diagnostic tool can also be used to monitor the long-term benefits of interventions.

The final two sessions focused on interventions. Fred Frankel, Ph.D. (UCLA) presented data from new interventions in friendship training.  Judith Reaven, Ph.D., (University of Colorado School of Medicine) showed her data on cognitive behavioral therapy for anxiety in ASD. Aubyn Stahmer, Ph.D., (Rady Children’s Hospital, San Diego) evaluated the use of an integrated intervention model in community settings. Sally Rogers, Ph.D. (MIND Institute) concluded this session with a summary of the challenges in developing good outcome measures for intervention studies.

The last session summarized the evidence behind pharmacological treatments for ASD. One of the real challenges for behavioral pharmacologists is how to identify drug treatments for core social and communication skills. Currently only two drugs are approved for treating irritability in ASD. Several other drug treatments have been tested in clinical trials with minimal or no evidence for their effectiveness. Individual differences and variation in symptoms over time make finding treatments for the core symptoms of ASD like trying to hit a moving target.

Putting it all together

David Amaral, Ph.D. of the MIND Institute and current president of the International Society for Autism Research, summarized the meeting by focusing on autism research ‘Promises and Pitfalls’. On the positive side, he noted a dramatic rise in research, supported by increases in public and private funding, such as the major contribution by Autism Speaks.  As for pitfalls, Dr. Amaral underscored the significant variability among individuals with autism that must be recognized if research results are to be meaningful. He also encouraged the continuation of brain research across the lifespan acknowledging age-related changes in brain development and behavior over time.

Progress in the field of brain research will require an on-going partnership among people with autism, families and researchers.  We are both optimistic about progress and impatient to find answers.  We all look forward to IMFAR 2011 in May when autism researchers return to San Diego with a broader perspective and new insights.

What’s in a voxel?

November 22, 2010 1 comment

This Science post is by staff blogger Jane Pickett, Ph.D.

Researchers have several ways to peer into the human brain.  A commonly-used tool is magnetic resonance imaging (MRI) and unlike the two-dimensional pixels in photography, voxels are used to describe the volume of brain measured by MRI.   Currently, the standard voxel is a of ~1mm, about the size of coarse sea salt.  Combining millions of voxels produces the 3D image of the brain you see in the figure. The view of the brain at this high resolution has led to some common ideas about the ‘autism’ brain.

Cynthia Schumann, Ph.D. and Christine Nordahl, Ph.D. of the MIND Institute at UC Davis, show how imaging, when paired with the microscopic inspection of the post mortem human brain, can help answer questions about typical and disordered brain development.  MRI studies of autism have revealed an atypical trajectory of brain growth during early childhood, characterized by brain overgrowth, that is present especially in the frontal cortex (involved in higher mental functions) and also in specific structures such as the amygdala (involved in memory functions, particularly of emotional experiences).

Why are these areas growing larger than normal in young children?  One way to answer this question is to look at the cells in these enlarged areas.  That solution requires samples of donated postmortem brain tissue.

To give an idea of what’s in a voxel in a typical 3 year old child’s brain: there are an estimated 40,000 neurons in the space of a voxel in the cortex and 7000 in each voxel in the amygdala.  The pictures in row C show just a portion of cells in a single voxel in the brain areas indicated. Some evidence indicates that neurons and another cell type called glia are more abundant in the brains of individuals with autism.  Connections between cells need space and the more numerous brain cell branching that has been found can also lead to a size increase of a given area.

In addition to counting cells and their connections, fine-scale anatomy allows us to examine the layered organization of cells in the cerebral cortex and other local relationships in different brain areas.  When researchers observe cells that are “out of place”, this suggests differences in the functioning of that local network of cells.

Researchers can also use antibodies to localize various molecules in post-mortem brain tissue.  With these techniques scientists can identify cells that carry a particular type of neurotransmitter, or other cellular signals.  One can also extract and analyze the building blocks for proteins in RNA and DNA and look for regions where a certain gene may have been “turned on” or off more than expected.

Given the coarse resolution of MRI, the field must look towards post-mortem human brain research to help us understand the neurobiological underpinnings of the difference in brain growth patterns that have been found in MRI studies.   MRI studies are very helpful in targeting which brain regions should be explored further in post-mortem studies.

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.

Brain Research will be publishing a special issue of articles that feature presentations at the 2010 Brain Research meeting.  Dr. Schumann’s paper is currently available online with appropriate institutional access or for purchase.

Schumann, CM and  CW Nordahl.  Bridging the gap between MRI and postmortem research in autism. Brain Res. (2010), doi:10.1016/j.brainres.2010.09.061.

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Autism in the News – Monday, 11.22.10

November 22, 2010 1 comment

Edison State College unveils courses to expand autism awareness (Naples News)
Sandra Worth’s son was 3 years old when she and her husband first started to realize something wasn’t quite right. But it took roughly 12 more years of the boy’s life to be diagnosed with autism. Read more.

A different kind of caring (Australia)
Seven-year-old Marc Duggan eagerly awaits his trips to Baptcare each fortnight. It’s his chance to get out and have some fun. Whether he is out bowling or listening to guest speakers, it’s often the only time he gets to act like a normal kid. Read more.

Mac student learns to thrive despite form of autism (My Journal Courier)
Taylor Sweeting has used what some would call an impediment and to become an effective leader. Read more.

Out to play: Parents learn to bridge gap between themselves, child’s autism (Central Michigan Life)
Five-year-old Micah Nickel was diagnosed with autism in the spring of 2009. Immediately, Chris and Jenn Nickel set out to find how to best help their son. The family found the Massachusetts-based Son-Rise program,an organization that looked like the perfect place for Micah. Read more.

Pet dogs can transform lives of the disabled ( UK)
Pet dogs can transform the lives of the disabled, including autistic children, researchers say. There is a growing awareness that dogs can play a key role in ending tantrums in children, reports the Telegraph. Read more.

Categories: Autism in the News

In Memory of Jane Stewart

November 19, 2010 Leave a comment

This guest blog is by Nikhi Young, the Acting Walk Director for Central and East Texas.

Houston’s autism community mourns the loss of a dear friend, Jane Stewart, who passed away on November 11th.  In 1981, Jane changed the landscape of autism services in Houston by founding The Westview School, a private, not-for-profit school dedicated to providing a nurturing, structured, and stimulating environment for special needs students.  She was a pioneer in education and a champion for so many Houston families.

Jane and The Westview School have been long-time supporters of the Houston Walk Now for Autism, creating an annual team.  Two years ago, Music for Autism approached Autism Speaks about working together in Houston to share their interactive children’s concerts designed for individuals on the autism spectrum, but we needed a home for these concerts.  Jane opened her doors to us without hesitation and so began a quarterly concert series to bring families together.  Annually, one of the concerts serves as the Walk Now for Autism Speaks Kick-Off Party.

Jane Stewart will be missed by so many, among them Autism Speaks, the students whose lives she touched, and their grateful families.  In lieu of flowers, donations can be made to The Westview School at www.westviewschool.org.

Autism in the News – Friday, 11.19.10

November 19, 2010 Leave a comment

MU Researchers Announce New Autistic Education Techniques (Colombia, Miss.)
University of Missouri College of Education researchers announced Thursday a new autism curriculum being implemented in two Columbia schools. Researchers are conducting their curriculum in both Lange Middle School and West Junior High. Read more.

Wildhorse Program Seeks New Home (San Ramon, Calif.)
A local San Ramon program that serves disabled and special needs children and adults through the use of riding horses needs a new home. Read more.

Blast girl, 12, honoured for her bravery (UK)
Brave members of the public and firefighters were honoured at an awards ceremony last night for helping to save lives across South Yorkshire over the last year. Read more.

Missing CL teen found safe in Utah (Crystal Lake, Utah)
A missing Crystal Lake teen has been found safe in Wendover, Utah. Seventeen-year-old Trenton Johnson, who has a form of autism called Asperger’s syndrome, left his home Tuesday after getting into a disagreement with his parents. He was seen Nokomis, Ill., about an south of Springfield, Wednesday afternoon. Read more.

Babies And Robots Learn From Each Other (Red Orbit)
A few years ago, AnthroTronix, Inc., an engineering research and development firm in College Park, Md., introduced Cosmobot, a type of social robot for therapists and educators who work with developmentally and learning disabled children. Read more.

What is epigenetics? Does this new field hold promise for understanding the causes of ASD?

November 19, 2010 9 comments

“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community.  We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and the Autism Speaks Science staff will address the other themes we received in this weekly post.

Scientists have long wondered how experiences during a person’s lifetime can alter behavior and body functioning.  In the early 1800’s Jean Batiste Lamarck suggested that giraffes’ necks grew long through many generations of stretching to reach distant leaves.  That theory eventually fell to evolution–pressures from the environment selectively amplify or quiet certain traits that are variably present within a population. Later, the DNA code was found to be the mechanism for inheritance and the level at which selective pressure acts.

Today’s scientists see hints of Lamark as they peer into the molecular biology of inheritance.

Consider DNA to be a library of books that encode genes. These “genetic books” must be read so that proteins can be formed from the code.  Some genetic books are open and available for reading by the cell’s molecular machinery.  Others maybe temporarily unavailable and still others are in the restricted section—essentially permanently unreadable.

Experiences throughout an individual’s life create tags on the genetic code, marking it as available or not for reading. The molecular methods that control the availability of the genetic code are collectively referred to as epigenetic mechanisms. Literally meaning “above the genome”, epigenetic mechanisms tag DNA with different chemical marks, such as methyl or acetyl groups.  Certain tags can increase the reading frequency, resulting in more protein building-blocks transcribed from the DNA code, and more of that gene “expressed”.  Other tags result in a particular piece of the genetic code to be skipped during reading.

A host of environmental agents and interactions may leave epigenetic marks on the genome.  Early life stress, smoking, exposure to toxins may all leave epigenetic marks either creating or removing barriers for protein creation.

Here is where Lamark comes in.  Most epigenetic marks are removed before the sperm and egg meet to form an embryo, but sometimes, epigenetic marks remain.  This is one mechanism by which environmental exposures can be passed along from parent to child.

The study of epigenetics and gene expression in autism is underway and early findings are exciting.  Some of the genetic syndromes associated with autism, such as Angelman and Prader-Willi syndrome, result from epigenetic marks that render one parent’s genetic contributions unreadable.  Recently, gene expression studies from the blood and even brain tissue of individuals with autism have shown differences in the activity of patterns of genes that are involved in brain development and function.

This is an exciting area of research and we look forward to sharing more details as we learn more from the science.

Read more about epigenetics on or blog.

Perfect Pals

November 18, 2010 4 comments

This is a guest post from Codie Perry, a junior at Nantucket High School in the Perfect Pals program. Perfect Pals is Nantucket High School’s mentoring club for students with disabilities in Nantucket, MA. The goal of Perfect Pals is to provide socialization, role models and friends for the individuals with disabilities; well-deserved respite for parents; and a rewarding and memorable experience for all of the club members.

My decision to join the group Perfect Pals has been one of the greatest choices I have made in my life. It has opened my heart and mind up and has begun a change in me. Seeing the many kids with disabilities in my community makes me sad and it has opened my mind up to the broader world. Being part of this group takes me out of my own little world and forces me to realize that there are people who have it worse off than me. And so for me to be upset over little things is insulting and just not right, and this is the change in mind set that has begun in me. But the thing is, is that all these kids are happy! They are truly and genuinely happy, and so for me to be upset over small problems is just something I do not want to do any longer. Seeing them makes me happy and knowing that just by giving a little bit of my time can completely change them and make their lives so much better. It can be thought that I am helping them but in reality, they are the ones who are truly helping me. They have taught me to enjoy life for what it is and although it may not be perfect, life is still great. They have taught me to be more understanding and compassionate of others, I feel as though I have a greater sensitivity to the needs of people. I intend to stay committed to this group and making sure that I am doing everything I can to go to the events that we set up for them because its means not only the world to them but also to me. I do not want to get caught up in the world and trying to achieve personal success and end up forgetting about our Pals. Spending time with them and being with them is what is important. I have a problem of getting caught up in different problems that I may have and start to feel the weight of the world upon my shoulders, but with all that I need to find time for them. Nothing proves a person’s character more than if they are willing to put aside their own difficulties and reach out and help someone else. I intend to keep this principle as a number one priority in my life, making sure that I am living that why as each day passes. I am so fortunate to attend Nantucket High School and to have this chance to make a difference in the lives of other kids. It is the greatest feeling in the world to know that you are making a significant difference in someone else’s live. I want to thank Mrs. Walsh and Mrs. Horyn for all that they do, and the effort that they put in, to make this program as successful as it is, and I hope that I can continue to put forth my best effort in contributing to perfect Pals. I know as a result it will have a lasting impact on not only the lives of our Pals but also in my life.

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For more information, visit the Nantucket Autism Speaks Resource Center website www.autismspeaks.org/community/resources/nantucket.php.

Family Services provides resources and information. If you have a question, contact the Autism Response Team today. If you’re concerned that your child may be affected with autism or if you’ve received a diagnosis, browse the Tools for Families section, where you’ll find our 100 Day Kit, and the Autism Video Glossary. If you’d like to do a quick search for service providers near you, select Find a Local Resource and browse the Resource Guide.

Autism in the News – Thursday, 11.18.10

November 18, 2010 Leave a comment

Autistic teen reported missing in Crystal Lake (Crystal Lake, Ill.)
Police are asking for help in locating a missing northwest suburban teen who suffers from a form of autism told a friend he was driving to New York. Read more.

Connor’s adventure highlights autism danger (Wichita, Kan.)
You probably didn’t want to be out in Wednesday’s snowy weather, but Tuesday’s was different – sunny, warmer, and the perfect opportunity for an adventurous (and autistic) five year old to wander away from his school playground,  and discover the world of west Wichita and its busy streets. Read more.

Autistic boy kicked out of program (Canada)
To Cynthia Boufford, it’s a blatant case of discrimination against a boy with special needs. To organizers of the London after-school program who excluded 12-year-old Boufford’s autistic son, Jordan, after he hit a peer, it’s about keeping kids safe. Read more.

Quentin first service dog in city for autism (The Daily Press)
A dog can be a child’s best friend, but in Philippe Girouard’s case, it will also be his protector. Four years after first learning about the National Service Dog program for those living with autism, the Girouard family wel-comed Quentin, an 18-month-old black labrador into their lives. Read more.

Ralph’s score veers to the vulnerable (Variety)
In the ongoing renaissance of innovative music scoring for documentaries, composer-songwriter J. Ralph, who scored such recent docs as “The Cove” and “Man on Wire” and made song contributions to “Crazy Love,” has certainly played a part. But his scoring work for recently released autism docu “Wretches and Jabberers” has taken on a strange life of its own, birthing a generation- and genre-spanning companion soundtrack after the fact, all composed with a recording philosophy that closely mirrors the film’s subject. Read more.

Parenthood: Put Yourself Out There

November 17, 2010 6 comments

Parenthood is a one-hour drama that follows the trials and tribulations of the very large, very colorful and imperfect Braverman family. Jason Katims, the show’s Executive Producer, has been honored by Autism Speaks. Parenthood airs Tuesday night on NBC at 10/9c.

In this episode of Parenthood, Max, who has Asperger’s Syndrome, did not get invited to a classmate’s birthday party. Max is under the impression that he isn’t invited because Emily, his classmate, doesn’t like him. Kristina and Adam are upset and hurt to learn that their son is being excluded.

Kristina confronts Emily’s mom and is surprised to hear that it was a deliberate choice not to invite Max. Emily’s parents decided that because of all of her struggles, she should be able to have her birthday be a special day, just as she wants it. Kristina can’t handle the reasoning and speaks to Emily. Kristina learns that Emily thinks Max is a sore loser, when playing games.

After another run-in with Emily’s mom, Kristina pleads for a play date so that the children can work out their issues. Kristina says that she is Max’s biggest supporter and Andie agrees with those sentiments. Bother mothers realize that need to work together to support their Aspie children.

For a full synopsis of the episode and the “Experts Speak” section, visit the NBC website.

How much, is too much parental involvement? Have you ever been in Kristina’s situation? How did you handle it? What are some constructive ways you advocate for your child?

 

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