Autism Speaks Official Blog

In honor of the anniversary of Autism Speaks’ founding on Feb 25, for the next 25 days we will be sharing stories about the many significant scientific advances that have occurred during our first five years together. Our 19th item, First Successful Autism Genome-Wide Association Study Results,  is from Autism Speaks’ Top 10 Autism Research Events of 2009.

Advances in technology and analytical methods over the past several years have enabled a better understanding of genetic risk factors for ASD. The human genome has over 6 billion DNA nucleotides. Until recently, it has been extremely difficult for scientists to compare two groups of individuals – one affected by a condition versus a comparison group – in terms of their detailed DNA because such comparisons require the analysis of at least half a million to a million individual locations in the genome of thousands of people. New methods, called Genome-Wide Association Studies (GWAS), have now made it possible to perform such comparisons and identify single changes in DNA nucleotides as specific genetic risk factors. Although this powerful technology has already produced exciting findings in other complex diseases, it wasn’t until 2009 that GWAS studies finally began to bear fruit for autism. In the Spring and again in the Fall, researchers reported successful application of GWAS technology to ASD.

GWAS is a powerful analysis technique that allows researchers to sift through hundreds of million of bits of genetic data to identify changes to the genetic code that are associated with a disease. Because the approach is not based on any specific biological hypothesis, scientists can cast the broadest experimental net possible, and use sophisticated statistical methods to establish the disease association. In recent years, GWAS has been successful in identifying susceptibility genes for such diverse conditions as macular degeneration, diabetes, rheumatoid arthritis, Crohn’s disease, and bipolar disorder. In April 2009, a large team of scientists led by investigators at Children’s Hospital of Philadelphia, reported results from the first successful GWAS study in autism. Tens of thousands of DNA samples are required for GWAS to produce meaningful results, so working with collaborators that included members of the Autism Genome Project, the researchers pooled samples from the Autism Speaks-funded Autism Genetic Resource Exchange (AGRE) combined with many other collections. The result was identification of a DNA variant associated with the genes cadherin 10 and 9, which are responsible for creating molecules that facilitate the formation of neural connectivity. This finding is consistent with accumulating evidence suggesting abnormal interactions between neurons may be at the core of the deficits seen in autism.

The idea that faulty connections between neurons plays a major role in ASD was further supported with the publication of the second autism GWAS study in October. Also working with AGRE and members of the Autism Speaks-funded Autism Genome Project, a collaboration led by investigators from Boston’s Autism Consortium and Johns Hopkins University used a very different statistical approach to discover an association between ASD and the gene semaphorin-5A. Similar to the cadherins identified in the first study, semaphorin 5A is thought to play an important role in neural development.

Taken together, these two groundbreaking studies confirm the potential for GWAS to make successful contributions to our understanding of autism genetics. Remarkably, out of the approximately 20,000 different human genes the experiments could have identified, the genetic variations that were uncovered are genes involved in brain development, serving to expand and reinforce our current thinking about biological mechanisms of autism. Like all new findings, they continue to focus the attention of the scientific community on the next directions for research and exploration.

Update since this story was published: DNA technology has once again advanced dramatically. New high-throughput techniques have finally made it possible to sequence entire stretches of genes, known as exons, in large numbers of patients. At the end of 2009, stimulus funds from the American Recovery and Reinvestment Act were awarded to investigators from the Autism Genome Project and the Autism Consortium who will use these new techniques to conduct a very detailed examination of 1,000 different genes linked to autism using several thousands of families who have kindly provided their DNA.

RESEARCH

Autism Reshaping Grandparent Role, Survey Finds (Disability Scoop)
Grandparents are often the first to suspect that a child may have autism and they play a major role in caring for children once they are diagnosed, according to preliminary findings from what is believed to be a first-of-its-kind survey of grandparents of those on the autism spectrum. Read more.

EDUCATION

PUBLIC HEALTH

I guess she is just depressed because her overbearing sister steals all of the attention. That’s why she doesn’t smile, run, play and laugh like a normal toddler. If I plan to home-school this child I have got to figure out why she hates to practice her ABCs and manuscript. She doesn’t care if she gets a sticker or not. I know she knows how to do it; she is just refusing. Her head is down in her arms on the table. Is it really possible for a 3-year-old to be this stubborn? She won’t even come out for a cookie!

My mom used to get motion sickness; maybe that’s why my daughter gets sick every time we get in the car. But why does she spin herself in circles in the backyard for what seems to be hours at a time without even getting dizzy? That just doesn’t make sense. It is strangely funny and weird that she likes to throw herself backwards on the floor over and over and over again as her father and I sit and watch completely bewildered and entertained at the same time. What two-year-old does that?

“I did. I asked the doctor again. She said it’s just her personality,” I tell her father.

Why won’t she get dressed? There is no reason for her to be so difficult about getting dressed. Just put on the jeans and shirt with the cute little design and let’s go already! I am going to be late to work again! She’s four years old. Her sister has been dressing herself and changing numerous times a day, much to my dismay, on her own since she was at least two. What is the problem? This child doesn’t seem to want to wear anything except pajamas or sweat suits. She can’t wear sweat suits everyday.

How did she get that math problem? She’s not even in school yet. Was she even listening to us? She was in the other room. She just blurted out the answer like it was nothing to her.

Why is she overreacting? I am just brushing her hair. I am being so gentle. It would look so cute if she would just let me put this pony tail in.

I read an article on autism. Eva doesn’t have autism. It is an interesting subject though. I’ll read it and think that thankfully my child does not have autism!

Okay, she’s five. It’s time to learn to ride a bike. Oh my goodness, she’s going to hurt herself if I let go. Why can’t she get this?

Look both ways when crossing the street. Hold my hand when we walk in the parking lot. You have to watch where you are going. Stay close to me. Be aware of your surroundings. Don’t wander in the store. Now I understand why parents have leashes for their kids. I have to physically have a hold on my child or she will disappear. Don’t talk to strangers. Yes, the store clerk is still a stranger. Please don’t tell everyone we meet such personal family information. It is a good thing I don’t get embarrassed easily. Just smile, take her hand so you don’t lose her and walk away.

Big girls take showers, not baths. What is the problem? Why is she crying? Outright refusal. It has been twenty minutes and she still hasn’t turned the shower on. I don’t even take that long of a shower. It has been an hour since she got in. Okay, she’s finally done. Did you wash your hair? It’s not even wet. What were you doing in there for an hour? Okay, you have to get back in. More crying. I will come in with you and wash your hair for you.

I justify my actions. “I do not spoil her! How outrageous! No, I don’t make excuses for her!” I know, although I can’t understand it, she cannot do it by herself. So I do it for her.

Back to the doctors. It’s a different doctor and this time, I insist. “There is something wrong. She is seven. She cannot ride a bike. She would trip over a blade of grass. She’s awkward.” She has my compliant daughter do a few minor gross motor activities and tells me she is not where she thinks she should be and sends us to a physical therapist that does some more in-depth testing with her and finalizes that she has Sensory Processing Disorder. Phew! That explains it! That’s why she won’t wear jeans. That’s why she hates showers. That’s why she begs for back rubs. That’s why she falls so much. Eva spends a year in physical and occupational therapy. I notice most of the other children in therapy definitely have autism, yet I brush off the thought once again.

Two years later we are doing homework. I’m sitting right next to her, keeping her on track the whole way and trying to be patient. I am explaining everything in a way she can understand.

“Wow! Did she just re-write that entire paragraph word for word after only reading it once? I can’t do that. I’m going to Google that.” And so I do because I am so intrigued. Every site it takes me to mentions autism.

At the age of nine, I take her to see a neurologist. I am convinced there is more to my child’s strange and intermittent brilliance, odd ways and sensory issues. How can I understand her? How can I help her, and how can I have a relationship with my child if I don’t know what is going on inside that mind of hers? After a few checklists and hour-long sessions of questions regarding Eva’s social interaction and behavior and we have a diagnosis! Asperger’s Syndrome. Tears form, but they are tears of relief. The relief of finally knowing.

For nine years, her father has insisted that something was just not right. When he suggested autism to me a few years back I told him I was on top of it. She had sensory issues, but I knew. My gut and my instincts told me daily that she just was not “normal.” I wanted to believe her doctor. It is just her carefree personality. So she’s different? She’s just innocent and naïve. That can be a good thing, right?

When I called her father to tell him about the diagnosis, he responded, “I told you. No one ever listens to me. She is to stay in a normal classroom. She is not stupid. I think she’s a genius. Do you hear me? Don’t let them dump her off.” I promise him that I won’t. I read every piece of information I can find on Asperger’s Syndrome and high functioning autism and I am convinced he knew because he had it, too.

My daughter is now going to be 11 years old. She is possibly the coolest person I know. She attends a regular school, is in a regular classroom and is on the honor roll. Her teachers, therapists and IEP team are extremely cooperative and proactive. She is in several social skills groups and she takes showers now. She has friends, attends sleepovers and although not gracefully, she rides a bike, dances and roller skates. She makes us laugh and makes us wonder. She thinks life is a bowl of cherries. She doesn’t sweat the small stuff. She is patient, faithful and so forgiving. She is forgiving of the world for not always understanding and not always being so kind. Forgiving of my ignorance at what she is talking about sometimes. Forgiving of the ever-confusing way us atypicals go about things. Eva continues to be kind though, to everyone she meets. She is incapable of being mean or malicious or untrue.  

“All you need is love, mom” were the words of my three-year-old-Beatles-fan daughter who has Asperger’s Syndrome.

 This “In Their Own Words” essay is written by Launa M. Taylor of Willoughby, Ohio.

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.

On Wednesday, February 10, 2010, Brian Campbell, Defenseman for the Chicago Blackhawks, hosted a Texas Hold’Em Poker Tournament at Harrah’s Horseshoe Casino in Hammond, Ind. to raise funds for his new foundation, Campbell for Kids.  The mission of the foundation is to raise funds for charities throughout Chicago and Illinois that serve children with special needs and learning disabilities. During this first year, the focus is to raise funds for autism, and Brian has named Autism Speaks as a primary charity partner.

The event was a tremendous success, with $115,000 raised. With dozens of celebrities in attendance, including Tony Esposito, Jim McMahon, Patrick Kane and other current and alumni Blackhawks team members, guests enjoyed a one-of-a-kind opportunity to mingle with some of Chicago’s greatest athletes.  Autism Speaks Chicagoland Chapter Vice Chair, Tricia Brouwers, acknowledged Brian Campbell during the opening remarks and expressed pride to be named a partner.  More than 750 guests enjoyed top-notch tournament play. As an added benefit, those tournament players responsible for eliminating Blackhawks and the other celebrity players during the tournament received the Blackhawks jerseys right off their backs! Guests also enjoyed unlimited drinks and dining, live entertainment, casino gaming, a silent and live auction, as well as cash prizes that were awarded to the top five players in the tournament.  The auction was an area of interest with several auction packages including signed memorabilia, including a helmet signed by hockey great Tony Esposito and dinner with three Chicago Blackhawks team members helped to raise more than $20,000 alone.

Brian Campbell speaks at the event.

Campbell’s interest in helping children sparked while in New York playing for the Buffalo Sabres. Brian spent time volunteering at the Summit School which provides special education for children and young adults with disabilities. At Summit he had the opportunity to interact with the students during the school day as well as attend various events to advocate for the education of individuals with disabilities. Since 2005, Brian has continued his relationship with Summit School through hosting the Summit Golf Tournament, where all proceeds benefit the school. Brian looks forward to expanding his work with Illinois-based students through his new foundation, Campbell for Kids. For more information on Brian Campbell, click here.

We are proud to partner with Campbell for Kids to grow and expand support for families in the Chicago area.  Congratulations to Brian on a tremendous event!

Check out more photos from the event!

On Thursday, February 10, 2010, the Chicagoland Chapter of Autism Speaks welcomed over 300 guests to the Chicago Auto Show’s First Look for Charity, which is one of Chicago’s largest single-day charity events.  Autism Speaks is proud to commemorate nine years as a charity partner of this highly regarded Chicago black-tie event.

 The Chicago Auto Show opened its doors to a select group of guests for a sneak preview the night before it opened to the public.  Guests of Autism Speaks enjoyed a special VIP reception, complete with hors d’oeuvres, champagne, wine, sweets and good company.  Agatha DeFranco, this year’s event chair, acknowledged Mercedes as our single-largest contributor, in addition to recognizing Kim Wolf, who helped to launch this event in 2003 and chaired it for eight years running.  The black-tie affair allowed participants to peacefully stroll the show floor amid opulence not present during the public portion of the Chicago Auto Show.  Abundant hors d’oeuvres and drinks awaited those getting the first look at the more than 1,000 new vehicles – some on display for the first time anywhere at the Chicago Auto Show.

This year’s First Look for Charity has raised nearly $75,000 in support of Autism Speaks.  Congratulations to Agatha DeFranco on a job well done.

Check out more photos from the event!

Agatha and her date, her son, Johnny

TREATMENT

Mesibov Stepping Down As Head Of TEACCH (Chapel Hill, N.C.)
UNC Hospitals vice president of public affairs and marketing Karen McCall says Gary Mesibov did a fine job leading the TEACCH Autism Program at UNC. Read more.

Parents explore diet and autism (Houston, Texas)
“Very nasty, very foul odor and full of undigested food particles,” said Houston resident Michelle Groogan of her then 18-month-old son’s bowel movement. “It was the classic autism poop.” Read more.

Parents give up home in order to pay for son’s therapy (Wellington, Fla.)
Two years ago Denise Negron and Felix Hernandez of Wellington had to make a difficult choice – stop paying their mortgage or stop paying for their son’s autism therapies. They chose the former. Read more.

EDUCATION

Parents access special programs (Canada)
Finding the right fit in a preschool can be a daunting task for many parents. This decision becomes even more challenging for those seeking the right programs for children with special needs. Read more.

Parents put their case for better education provision for autistic youngsters (UK)
Parents made their feelings known at an inquiry into autism in further education. Read more.

PUBLIC POLICY

Kit Bond tours university autism center (Columbia, Mo.)
Missouri Sen. Kit Bond toured the University of Missouri’s Thompson Center for Autusm and Neurodevelopmental Disorders on Wednesday afternoon. Read more.

Autism bill passes in Virginia Senate (Va.)
A bill mandating insurers to cover treatment of autistic children ages 2 to 6 has passed in the Virginia Senate and is moving on to the House of Delegates. Read more.

Mo. House endorses bill mandating autism insurance (Jefferson City, Mo.)
A mandate for insurers to cover treatment for autistic children has cleared an important hurdle in the Missouri House. Read more.

RESOURCES

Project Lifesaver under way (St. Helena, Calif.)
Seven years ago this month Sandra Lowry was one of hundreds of searchers looking for an 88-year-old St. Helena woman with Alzheimer’s, reported missing after setting out on a walk. She was found in a creekbed three months later, dead from exposure after apparently becoming confused and losing her way. Read more.

Museum offers outreach program (Charleston, S.C.)
The Children’s Museum of the Lowcountry, 25 Ann St., downtown Charleston, has announced a new outreach program dedicated to serving families of children with special needs. Read more.

Temecula autism center plans fundraiser (Temecula, Calif.)
There’s a simple reason why Mary Mollway and Helen Robinson, a friend with an autistic child, opened New Vision Children’s Services in 2006. Read more.

Australia Opens New Autism Early Learning And Care Centre In Perth (Australia)
A new Autism Specific Early Learning and Care Centre in Perth will give young West Australian children with autism spectrum disorders access to specialist early childhood services to help them reach their full potential. Read more.

Grant funds music therapy program (E. Lansing, Mich.)
Drumming along to his favorite tunes on the piano, David Opsommer spends his music therapy class in complete bliss on MSU’s campus. Read more.

Blow for Norfolk autistic youngsters (UK)
Two hundred parents with autistic youngsters will lose dedicated support from a charity which specialises in caring for them, as the cuts facing public services in Norfolk begin to bite. Read more.

Children’s therapy clinic open in Mac (McMinnville, Ore.)
Karen Belje and her husband, Brent, have acquired Gentle Steps Children’s Therapy Center, located at 2191 N.W. Second St. They have renamed it Neurotherapeutic Pediatric Therapies Inc. Read more.

Siblings learn about developmental disabilities (Bismarck, N.D.)
The question had the boys at the table confused. “What’s braiding?” Michael Seibel said. Read more.

ADULT SERVICES

Life looking up down on the farm (UK)
Plans to create so-called care farms to give vulnerable people a better life across Worcestershire have received a financial boost. Read more.

PEOPLE

Jury selection coming in western Pa. toddler death (Pittsburgh, Penn.)
Jury selection was scheduled to begin in the death penalty trial of a Pittsburgh-area man accused of leaving his 23-month-old daughter outside to die in the freezing weather. Read more.

‘Helpless’ mum waits on daughter’s diagnosis (UK)
A second West Fife mum has spoken out against lengthy waiting times in the Kingdom to diagnose children with suspected Asperger’s syndrome. Read more.

Call to help disabled to enjoy surfing (Australia)
Volunteers are needed to help put “smiles on dials” at a Collaroy event to help disabled people experience the thrill of surfing. Read more.

Ont. teen convicted after fatal car crash (Canada)
A 15-year-old Barrie, Ont. teen who stole a car and crashed and killed a man as he fled from police was sentenced to six months in secure custody, on top of six months he has already served in jail. Read more.

Be on the lookout for a missing New Port Richey boy (New Port Richey, Fla.)
Be on the lookout for this missing boy. The Pasco County Sheriff’s deputies were notified around 10:30 Wednesday morning for a child with autism who is missing. Read more.

In honor of the anniversary of Autism Speaks’ founding on Feb 25, for the next 25 days we will be sharing stories about the many significant scientific advances that have occurred during our first five years together. Our 17th item, Recovery from Autism Spectrum Disorders, is from Autism Speaks’ Top 10 Autism Research Events of 2008. 

For decades, autism spectrum disorders have been assumed to be life-long conditions. Recently, evidence has begun to emerge suggesting that a significant minority of children with well-documented autism spectrum disorder (ASD) can recover; in 2008 the first research publication to define and review recovery was released, placing the percentage of children who recover in the range of 3-25%.

In December 2008, a team of researchers from the University of Connecticut and their colleagues published an inspiring and provocative article documenting cases of recovery in autism. Recovery was defined as previously having had clearly defined ASD but currently no longer meeting criteria for any ASD. Furthermore, the recovered individual is now learning and using skills with a “quality that reaches the trajectory of typical development in most or all areas.” Using these criteria, the research team documented and followed a group of children, now between 8-18 years of age, with a history of ASD who are now “recovered.” The authors point out that children who recover from autism may nevertheless be at risk for other challenges, such as subtle difficulties with some aspects of language, anxiety, or learning disabilities.

In a previous study, the same researchers reported several cases of ASD that evolved into ADHD with no autism. Interestingly, most of these children had evidence of early regression and recurrent ear infections. Most had also received early intensive behavioral intervention. Recent outcome studies have shown that core symptoms of autism tend to improve by adulthood, especially difficulties in the areas of communication. Several outcome studies have found that about 10-20 percent of adults previously diagnosed with ASD no longer meet criteria for the condition.

How can recovery occur? One clear possibility is that successful treatment moved children who had ASD off of the spectrum. However, as the researchers point out, since most children who receive even the best and most intensive intervention do not recover, treatment alone cannot be the explanation. Both treatment and inherent characteristics of the child are likely to explain recovery. The research team therefore looked for child characteristics that predict optimal outcome, identifying higher IQ, receptive language ability, verbal and motor imitation, motor development, and an early age at diagnosis and initiation of treatment as promising predictors. In the majority of studies that report recovery, behavior intervention was used alone or in combination with other therapies.

The authors point out that although early intervention is associated with optimal outcome, this fact should not be used as an argument against the need for intervention in older children in light of the growing evidence of brain plasticity throughout the life span. Finally, this thoughtful article considers a wide range of biological mechanisms that may help explain the process of recovery. Future research directions will now provide us with insights into ways of improving the outcomes – and the chances for recovery – for all individuals with ASD.

Update since this story was first run: In 2009 researchers reported in the journal Pediatrics that they had used the National Survey for Children’s Health, a voluntary, parent-reported survey, to examine ASD prevalence in the US. Among other surprising results, they discovered that a substantial portion of parents reported their children had previously been diagnosed with an ASD but did not currently have the condition.

RESEARCH

Autism: Oxytocin Improves Social Behavior of Patients, French Study Finds (Science Daily)
Autism is a disease characterized by difficulties in communicating effectively with other people and developing social relationships. A team led by Angela Sirigu at the Centre de Neuroscience Cognitive (CNRS) has shown that the inhalation of oxytocin, a hormone known to promote mother-infant bonds and social relationships, significantly improved the abilities of autistic patients to interact with other individuals. Read more.

EDUCATION

Turning Pointe raising funds to build autism academy (Chicago, Ill.)
Like most parents, Randy and Kim Wolf want the best for their son Jack. They want to give him opportunities to succeed, both academically and socially. Read more.

Special education funding falls short, Toronto board says (Canada)
Despite a drop in enrolment, Toronto’s public school board says it has more special education students than ever — and inadequate funding from the province to provide programming for them. Read more.

PUBLIC HEALTH

Immigrants struggle with declining health (Canada)
Some healthy people who immigrate to Canada find their health deteriorating after their arrival — an issue immigrant communities are struggling to understand and address. Read more.

PUBLIC POLICY

Missouri House endorses bill mandating autism insurance (Jefferson City, Mo.)
A mandate for insurers to cover treatment for autistic children has cleared an important hurdle in the Missouri House. Read more.

Colo. recognizes people with disabilities (Denver, Colo.)
Today, hundreds of individuals with disabilities, family members, direct-support professionals and other service providers will descend upon the capital in Denver. Read more.

Autism Treatment Coverage Bill Passes VA Senate (Richmond, Va.)
The Senate has overwhelmingly passed legislation that would mandate coverage for an effective treatment for small children who have autism. Read more.

RESOURCES

Coffee shop becomes home for mentally disabled children (Vietnam)
Tam became speechless trying to talk about her indescribable joy the first time she saw her grandson, suffering from Down’s syndrome, carry a tray of drinks to a customer and not forgetting to say “please have a drink, uncle.” Read more.

Race/walk to benefit UF Center for Autism and Related Disabilities (Gainesville, Fla.)
The third annual STAR 5K Race/Walk benefitting the University of Florida Center for Autism and Related Disabilities will be held Saturday. Read more.

Autism camp offered April 9 – 11, registration ends March 2 (Boone, N.C.)
Crinkleroot Retreat, a free respite day camp to be held April 9-11, is recruiting campers ages 8 – 14 with Autism Spectrum Disorders. The retreat will be held in Valle Crucis at Camp Broadstone and is staffed by trained Appalachian State University volunteers. Read more.

ADULT SERVICES

Autistic adults pose challenge (Ariz.)
Several of Arizona’s leading real-estate groups have tackled a growing national housing problem in a new report, Opening Doors: A Discussion of Residential Options for Adults Living With Autism and Related Disorders. Read more.

PEOPLE

All for Animals Sets Up “Cuddles Fund” (Santa Barbara, Calif.)
When Bonnie Crowe received a Shih Tzu puppy from The Miracle Run Autism Foundation in 2008 as a therapy dog for her then 9-year-old autistic son, Jakob, she hoped things were finally turning around for her family. After all, the Agoura Hills resident had weathered Jakob’s autism diagnosis when he was two, she has a younger daughter with ADD and her husband was laid off from his job over a year ago… Read more.

Luke Faint paints up a storm (Australia)
Budding artist Luke Faint has picked up an art award in his first competition since taking up painting a year ago. Read more.

Autistic boy’s family wins fight to keep car (UK)
A Lincoln family who faced losing the only mode of transport for their autistic son have won a battle to keep their car. Read more.

Braddock father isn’t autistic, judge rules (Alleghany County, Penn.)
An Allegheny County judge Tuesday determined a Braddock man accused of abandoning his toddler daughter to die in freezing temperatures is not autistic, clearing the way for prosecutors to seek the death penalty against him. Read more.

Colby ready to fly (Australia)
If you’ve seen a young boy whizzing past you on a bike with a huge smile plastered on his face, it could have been Colby Matthews. Read more.