Posts Tagged ‘research’

Why is international research on the prevalence of autism important?

December 28, 2010 5 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.

Evidence suggests that autism knows no cultural, ethnic, or geographic boundaries.  It affects 1 in every 110 children (or about 1% of children) in the United States and converging research findings from around the world suggest that autism may affect 1% of the global population.  However, most autism epidemiology studies to date have taken place in select areas of relatively developed nations and communities and have used strikingly different study designs that complicate comparison across studies.  Further, very little is known about the occurrence of autism in low-resource territories with limited to no public health capacity and infrastructure.  By working to address these barriers and to facilitate well-designed epidemiology research around the world, investigators can begin to answer questions surrounding the occurrence of autism globally.

International research can help address questions regarding the causes of autism and changes in its occurrence rates over time.  Specifically, by comparing autism prevalence across nations, researchers can generate clues about the involvement of genetic risk factors or environmental exposures. International studies create opportunities to study autism in different ethnic groups, in special populations (e.g., those that are genetically closely related), and among populations with specific or uncommon environmental exposures (e.g., certain pollutants) not found elsewhere.

Additionally, some nations have special resources, such as health registries and surveillance systems that can generate large datasets and make previously impossible studies on the causes of autism possible. Autism Speaks is currently supporting the iCARE project which combines data from Norway, Sweden, Denmark, Finland, Israel, and Australia to investigate pre- and peri-natal risk factors for autism.

Just as autism’s high prevalence rate drove its emergence as a public health priority in the United States, children in nations around the world will benefit when their governments recognize that autism is not a rare disorder.  Epidemiology research can help increase awareness about autism and help government agencies develop informed policies regarding care of individuals and families with autism and other developmental disorders within their country.

In addition to epidemiology, it is vitally important to investigate additional areas relevant to public health research and dissemination.  Specifically, understanding the economic impact of autism can help researchers and advocates gauge the impact of autism on societies, including the quality of life of affected individuals and families.  Equally important, this information can serve as a means to promote increased access to low-cost and widely available services, such as through healthcare insurance reform in the United States.  Additionally, the impact of early diagnosis and early intervention on the economic burden of autism can be assessed to further make the case for increased service support to both general and underserved populations in the U.S. and aboard.

International autism research will not only shed light on the scope of the autism challenge around the world but will also serve to raise global awareness of autism. As this increased awareness can help galvanize communities, epidemiologic findings have the potential to influence government, public health agency, and medical organization policies and practices, thus benefiting previously underserved communities. In low-resource countries in particular, these efforts will function to enhance the infrastructure and capacity necessary for ongoing autism research as well as for services. International research may also help uncover previously undiscovered genetic and environmental factors that contribute to the development of autism spectrum disorders, thereby further benefiting the scientific community and ultimately, affected individuals and their families.

Why is autism more common in boys?

December 21, 2010 4 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.

In 2009, researchers discovered an autism risk gene on chromosome 17 called CACNA1G that is more common in boys than girls. The gene is partially responsible for regulating the flow of calcium in brain cells. Calcium is very important in transmitting information and having too much of the mineral may cause the overexcitability of neural circuits that we have seen in autism. This is a promising finding, though there have been other suggestions. Some researchers have suggested that females are less vulnerable to developmental disorders because of their neurochemistry. Also, autism risk genes have been found on the X chromosome. Since girls carry two X chromosomes, they have two copies of these genes, and one of the genes may not carry the mutation. This may help to protect them against the effects of an X-linked mutation. Although we don’t have a firm answer yet, the gender imbalance in autism diagnoses is a clue that researchers are pursuing actively.

Are you aware of any research being done on diet and its affect on children w/ autism? If so, what has been learned?

December 21, 2010 3 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.

To date, there have only been a few published rigorous clinical trials examining the efficacy of dietary treatment (specifically, the gluten-free, casein-free diet) for improving symptoms of ASD. These have been negative or inconclusive, but were based on very small samples. More recently, Dr. Susan Hyman at the University of Rochester reported the results of a double-blind, randomized trial in which children who were on the diet were challenged with foods containing casein and gluten. Dr. Hyman examined factors such as attention, sleep and the stool of 22 children with ASD both challenged and unchallenged and found no benefit from the diet. Dr. Hyman stressed that her findings don’t rule out the possibility that there may be subgroups of children who benefit. Autism is a very heterogeneous condition. More research is needed.

How can families participate in research studies?

December 21, 2010 Leave a comment

“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.

Great question! We hope more families wish to get involved in research. One easy way to get started is through an online portal called the Interactive Autism Network (IAN) at This site allows you to participate in research from your home. You can also find studies and participate in programs supported by Autism Speaks. If you are interested in a clinical trial (which is not just about treatment, but also diagnosis, identifying subtypes, etc.) you can find more information at

Autism Speaks Vice President Testifies to Congress about its Pioneering Open-Access Policy

August 5, 2010 3 comments

On July 29, Autism Speaks Vice President of Research, Sophia Colamarino, Ph.D., testified to the House Committee on Oversight and Government Reform regarding the importance of free and open access to publically-funded research literature.  Dr. Colamarino was the architect of Autism Speaks pioneering open-access policy.  This policy, which took effect for grants awarded after December 3, 2008, requires that researchers receiving grant funding from Autism Speaks make a copy of any article resulting from that funding freely accessible in a public database no later than 12 months after publication.  This will allow all potential users – scientists, clinicians, businesses, educators and families – to ultimately have first-hand access to research articles that are typically only available through fee-based journals.  Autism Speaks believes that it is possible to accelerate the pace of discovery, and that open sharing of scientific research is both urgently needed and entirely practical in the internet age.

Autism Speaks is the first U.S.-based non-profit advocacy organization to adopt such a policy.  Along with Dr. Colamarino, other witnesses called to testify in favor of greater public access to peer-reviewed research literature included the Nobel Prize-winning scientist Richard Roberts, Ph.D., and the Director of the National Institutes of Health’ National  Center for Biotechnology Information, David Lipman, M.D.

The hearing and debate over increased access to federally-funded research literature was covered in AAAS Science Insider. Read Dr. Colamarino’s testimony.


Tune In – Autism Speaks on SIRIUS/XM Doctor Radio this Friday

August 3, 2010 1 comment

SIRIUS|XM, in conjunction with Autism Speaks, will broadcast Doctor Radio Reports: Understanding Autism – Looking for Answers, a two-hour live call-in show devoted to autism on Friday, August 6 from 10:00 a.m. to noon EDT. This segment, to run on the popular SIRIUS|XM Doctor Radio (SIRIUS Ch. 114 & XM 119) channel, is the second in a series on autism and science. The first aired on April 23. The latest show will again broadcast live and feature some the world’s premier autism experts coming together to share exciting breakthroughs in the world of autism research. Autism Speaks’ Asst. Director Science Communication and Special Projects, Leanne Chukoskie, Ph.D. will join guests including Melissa Nishawala, MD, Assistant Professor of Child & Adolescent Psychiatry at the NYU School of Medicine, Medical Director of Autism Spectrum Disorders Services at the NYU Child Study Center for a discussion moderated by journalist Perri Peltz. Dr. Chukoskie will be joined by leaders in the fields of genetic research, brain cell synapse function and innovative technology for autism. Listeners will be treated to a discussion on exciting new potential treatment that aims to correct a protein mutation at the synapse, which may lead to improvements in some of the core symptoms of autism. In addition, the audience will learn about innovative technology developments designed to improve an individual with autism’s ability to communicate and interact socially. As in the previous SIRIUS XM Doctor Radio autism program, there will plenty of time for listeners to call and direct their questions to the experts. Listeners can call 1-877-NYU-DOCS (I-877-698-3627) with questions. Tune in August 6 to get the latest autism information and get your questions answered. The show will also re-air on Saturday from noon-2 p.m.  and Sunday from 8-10 p.m. EDT.

If you don’t have SIRIUS|XM, you can register for a seven-day trial subscription for free.


What Happens to Kids with Autism When They Grow Up?

May 12, 2010 3 comments

What happens to autistic kids when they grow up? Does a kid with substantial verbal impairment have a decent shot at growing up to have a family or a job? Does quality of life get better, worse, or stay the same? What kinds of support or services do middle aged people with autism need? What do they get? Are they happy?

John Elder Robison, an author who has autism and serve on Autism Speaks’ Scientific and Treatment Advisory Boards, recently blogged about an ambitious study, headed up by psychiatrist William McMahon of the University of Utah, which attempts to find answers to these questions.

Read more and comment on John’s post here.

Did You See “Frontline” Last Night?

April 28, 2010 14 comments

Did you see “Frontline” last night? Their special, The Vaccine War aired on PBS at 9 p.m. If you missed it, you can catch it online here, and join in the “Frontline” discussion here.

To learn more about Autism Speaks’ position on vaccines, please read our policy statement and an interview with our chief science officer, Geraldine Dawson, Ph.D.

Autism Speaks recently awarded 16 new autism research grants, totaling over five million dollars. You can learn more about them here.

5|25: Celebrating Five Years of Autism Science Day 7: AGRE Reaches Milestones

February 7, 2010 Leave a comment

In honor of the anniversary of Autism Speaks’ founding on Feb 25, for the next 25 days we will be sharing stories about the many significant scientific advances that have occurred during our first five years together. Our seventh item, AGRE Reaches Milestones, is from Autism Speaks’ Top 10 Autism Research Events of 2007.

Created in 1997 by Cure Autism Now/Autism Speaks, the Autism Genetic Resource Exchange (AGRE) remains one of the most powerful resources for autism research. AGRE is a nation-wide family registry and biomaterials repository that recruits families with at least two members with an autism spectrum disorder. Biological samples (blood, plasma and DNA) are collected along with the accompanying clinical data and made available to AGRE-approved researchers all over the globe. As of December 2007, this open-access, collaborative resource contained information on over 1600 families with autism, making it the largest privately maintained autism repository in the world.As parents know, the research process can be frustratingly slow. AGRE significantly speeds up the process by providing researchers with the necessary materials and information to test a diversity of hypotheses without having to recruit families or collect their own data. Furthermore, having such a large database of sample data provides researchers with more meaningful insight into the disorder. The impact has been enormous. This summer AGRE reached a publication milestone, when the 100th paper citing use of the resource was released. As recognition of this remarkable contribution and the pivotal role of AGRE in advancing autism research, in September 2007 the National Institute of Mental Health awarded an $8.4 million grant to the University of Southern California that will provide funding to support AGRE with the next five years of data collection.

The AGRE program provides families with a means to get involved and positively contribute to autism research. A better understanding of autism will require different scientific approaches and even greater numbers of families. This year scientists studying other complex disorders such as diabetes and heart disease found that sample sizes on the order of tens of thousands of affected individuals were required before common disease genes could be detected. Continued expansion of AGRE and other collections like it will be necessary to reach these goals as fast as possible.

Did you know?: The AGRE collection continues to be the largest private source of genetic and clinical information for autism research available to scientists worldwide, containing information on over 2100 families with autism as of January 2010. AGRE is now responsible for 162 peer-reviewed publications and has been used in most of the major autism genetic discoveries to date. It is currently facilitating 11 collaborations with outside researchers and supports six federal grants. One of these grants was awarded to Autism Speaks by the NIH as part of the 2009 stimulus funding. This new grant will allow AGRE and the NIH to enter a partnership to help build a larger and more flexible national database for autism research.


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