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Autism in the News
In order to ensure that researchers have enough brain tissue to understand autism spectrum disorders, the education and outreach campaign of the Autism BrainNet is being expanded past families to doctors and professionals that have access to tissue. One of these groups is neuropathologists. At their annual meeting this past week in Los Angeles, an […]
In this week’s podcast with Dr. Alycia Halladay Ross, she discusses two new publications that reported on systematic reviews for nutritional and sensory treatments for ASD. This means the existing research was sorted, summarized, scrutinized and evaluated. The reviews found insufficient evidence to show that any dietary or nutritional therapy was effective, but sufficient evidence […]
It is with great sadness that we share the news of the passing of Dr. Isabelle Rapin. Dr. Rapin was a pioneer in autism research who collaborated on many important papers and made enormous contributions to research. More importantly though, she was a clinician who diagnosed children back in the 1980’s when autism was considered […]
The Dup15q Alliance is offering pre- and postdoctoral fellowships to individuals studying basic science or clinical research on mutations of chromosome 15. People with mutations in a specific region of chromosome 15 also show a high prevalence of #autism and applications to investigate autism associated with Dup15 are welcomed. Applications are due by June 1st. […]
Dr. Donna Werling from UCSF, Autism Science Foundation fellow, was featured in “Scientific American” for her recent study on the differences between male and female brain development. Click here to learn more.
Lots of people tend to think of the genetics of disorders/disease as being one mutation/genetic variation inherited from the mother/father that causes a trait directly. Unfortunately, the genetics of autism isn’t that simple or scientists would have found “the gene” by now. In fact, there are different types of genetic influences in autism. A new […]
This week’s International Meeting for Autism Research was filled with important presentations on the multiple causes of autism, interventions, diagnosis, neurobiology, services, family and self-advocate perspectives; the list goes on and on. There is a great recap on Spectrum (click here). An underlying theme ran through the presentations: that is, that the previous “well, we […]
Autism Science Foundation grantees and fellows will be giving several presentations throughout the International Meeting for Autism Research (IMFAR) in San Francisco this week. If you will be at IMFAR, see details below so you can attend their presentations. If not, see below anyway to learn about the great work ASF grantees and fellows are […]
A community response: Advocates embrace new SUDEP guidelines while urging for expanded surveillance, research and educationPublished May 3, 2017
To view the statement in its original form, click here. The release of new practice guidelines co-developed by the American Academy of Neurology (AAN) and the American Epilepsy Society (AES) on the issue of Sudden Unexpected Death in Epilepsy (SUDEP) is a benchmark moment for everyone impacted by epilepsy. Historically, the communication between medical professionals and […]
Scientists have studied males compared to females with autism, but rarely have there been studies about what clinicians see as differences in these two groups. Given that they provide insight on diagnosis, needs and access to services, it is kind of important to talk to them, and a study out this week in the journal Autism […]
ASF Chief Science Officer Dr. Alycia Halladay commented on a new study on the risk of autism if an individual’s grandmother smoked during pregnancy. While the study cannot prove cause-and-effect, the researchers have discovered a link here. Click here to read more.
This week’s podcast with Dr. Alycia Halladay summarizes some new studies looking at autism traits and autism diagnosis in girls with anorexia nervosa. While the two disorders may seem different at the outset, they do share some behavioral features. Unfortunately, most studies look at autism in those with anorexia, not the other way around. However, […]
As always, good news and bad news in autism this week. First the good news: an intervention given between 9-14 months of age in children with a high probability of having an autism diagnosis improved autism symptoms at 3 years of age. Now the bad: mothers who experience severe childhood abuse are more likely to […]
Last week CNN.com reported on a study that showed slight improvement of autism symptoms in children that received a single infusion of their own umbilical cord blood. While the study was interesting, the authors were the first to acknowledge the limitations; however, this did not stop the media from misrepresenting the results. Details are explained […]
On Thursday, March 30th the Autism Science Foundation held their 4th Annual Day of Learning in NYC. If you were not able to attend and can’t wait for the videos of the talks, this week’s podcast with Dr. Alycia Halladay summarizes what was presented. Click here to listen!
The new study on mortality in people with autism may be overestimating the risk of drowning and suffocation in those with ASD. The study claims a higher rate of drowning and other accidental deaths in people with autism, which is true, but the magnitude of the effect they found was astronomical and misleading given the methodology. […]
Geri Dawson, the president of the International Society for Autism Research, points out how important funding for the Corporation for Public Broadcasting is for families affected with autism. Click here to read.
An op-ed by Dr. Alycia Halladay, Chief Science Officer of the Autism Science Foundation, was published today in Stat News: The publication of Andrew Wakefield’s notorious and now discredited research on autism and vaccines in 1998 triggered a surge of worry about vaccine safety. Since then, questions about a purported connection between autism and vaccines […]
Hear the latest Environmental Epigenetics of Autism Webinar: Dr. Mark Zylka presents recent data from his lab using animal models with genetic modifications to understand how common environmental factors we might be exposed to affect genetic expression. Dr. Valerie Hu from George Washington University comments and provides perspective from her work on a gene involved […]
The Cold Spring Harbor Laboratory is hosting the “Workshop on Autism Spectrum Disorders” on July 31-August 6, 2017. The course instructors are: James McPartland, Yale University Sergiu Pasca, Stanford University Jeremy Veenstra-Vander Weele, Columbia University The workshop speakers include Alison Singer, President of the Autism Science Foundation, and: Frances Champagne, Columbia University Geraldine Dawson, Duke […]
On Monday, the much anticipated MSSNG study which analyzed the entire DNA sequence of over 5000 people with autism was published. The press release can be found here. In it, the researchers found even more genes of interest to autism. Also, those with more of a specific type of mutation, copy number variations, had worse autism symptoms. […]
The brain is developing even after birth. So interventions that are given very early have the best chance of remolding and rewiring a brain with autism to prevent autism-related disabilities. This week, a group from the University of London, Duke University, and University of Washington measured brain activity during tasks that required social attention following two […]
Podcast: To see differences in the brains of males and females with autism, you have to look at the brains of males and females with autismPublished February 27, 2017
Last month, UC Davis researcher Dr. Cyndi Schumann used resources from the Autism BrainNet to look at what causes differences in the rates of diagnosis between males and females. Consistent with other studies on this topic, males and females do not show differences in the rates of autism genes, but rather in the way that the […]
This week the Infant Brain Imaging Study, or IBIS, published it’s second study on the emergence of changes in the brains of individuals with autism. While red flags for autism can be seen early, a diagnosis of autism is not typically made until after 24 months of age. Using a baby sibling research design, scientists showed […]
Researchers studying infants at risk for autism, or baby siblings, have found that the brain changes before symptoms develop. The findings may improve diagnosis and early intervention therapies. Read more about this study in Nature here.
This week two studies which examined infants and younger children that will significantly advance understanding of causes and services for people with autism were published. After a commentary about the confirmation of Betsy DeVos, the study that used a practical methodology to improve autism screening in pediatrics clinic from researchers at Duke University was presented. […]
Individual research studies are great. But even better is when someone takes these studies and puts them together to see if one study shows the same thing another does, and if they do, then is the effect size consistent? Sometimes you can only do this by going old school and pooling the data from the […]
Statement from the board of the International Society for Autism Research: “As an organization, we must think carefully about whether to host future international meetings for autism research in the United States. As an international society, it would be inappropriate to hold the largest annual meeting on autism research in any country that restricts access […]
With hundreds of genes, thousands of environmental factors, and now sex being variables in determining risk for autism, where should science start? Over the decades researchers have been able to start narrowing down the combinations based on specific behaviors of interest, genes, and mechanisms which may narrow down which gene, which environmental factor and which […]
Even though more than 20% of people with autism have little or no language, research into ways to help this group have really been lacking. Several efforts to not just understand the abilities and disabilities of this group started a few years ago and we are just starting to hear about what works and what […]
Today we honor Dr. Martin Luther King, Jr., a man who is revered for his contributions to justice, tolerance, equality and service. In this week’s podcast, Dr. Alycia Halladay highlights a Supreme Court case which affects how those with special needs are fighting for justice and equality. Also, over the holidays, Dr. Connor Kerns from […]
Today, Robert F. Kennedy, Jr. – who has continued to publicly promote the discredited theory that vaccines cause autism — met with President-Elect Donald Trump in New York City and afterward stated that Mr. Trump has asked him to lead a new commission on vaccine safety and scientific integrity. Autism Science Foundation President Alison Singer […]
Over the holiday break, the largest study so far including the most number of countries analyzed the risk of having a Caesarean section and autism. They found a consistent increased risk that wasn’t due to cause of the C-section or the age of the infant (preemie or term). So what is going on? This week’s […]
A summary of autism discoveries in 2016 and what they mean for families By Alycia Halladay, PhD, Chief Science Officer of the Autism Science Foundation and the Scientific Advisory Board of the Autism Science Foundation To listen to our year-end research summary podcast, click here. For decades, the autism community has known that autism affects […]
There is an ongoing debate about why people with autism avoid eye contact. There is data to support both, but as this behavior emerges very early, it’s important to look at data from preverbal children to understand the origins of changes in eye contact. Many scientists also feel that avoiding eye contact snowballs over the […]
A gene that controls electrical activity in the brain, SCN2A, has been linked to autism for awhile. But recently, a new study from China shows that mutations of this gene are seen in about 1% of people with autism. This may put it into the category of the rare mutations that have a major contribution […]
ASF fellow Dr. Donna Werling reviews the evidence around why females with autism are not diagnosed as often. It includes susceptibility in males, resilience in females, hormonal influences, camoflauging and role of IQ. Read more here – it’s open access!
Biomarkers can help distinguish different types of features, but this past week they were used to predict who would respond to Pivotal Response Training, or PRT. Researchers, led by Dr. Pam Ventola at the Yale Child Study Center, looked at how the brain responded to a social or non-social situation as well as baseline features […]
On early Wednesday morning, the United States woke up to the news that the new president was Donald Trump. While he hasn’t taken office yet, this podcast reviews his statement on his website or in his Contract with America, as well as things published or stated by him or his campaign on his website or in […]
Overall, the scientific research examining the efficacy of oxytocin treatment in autism spectrum disorder has been mixed. On a previous podcast, studies on the way the oxytocin receptor was turned on and off were explained, which may account for variability in treatment response. This week, two studies in Japan show that specific mutations in the oxytocin […]
How long do you have to study an intervention to see if it works? Many scientists agree that it isn’t just about what happens in the short run, but if those interventions can be sustained for long periods of time. In the case of very early interventions, it is now clear that treatment for about […]
New blog post by Dr. Alycia Halladay, Chief Science Office of the Autism Science Foundation: You may have seen it. The headline that says, “super-parenting improves children’s autism.” Besides being grammatically incorrect, it’s insulting. The implication, of course, from the headline is that parents who do not have super abilities or super skills can’t help […]
Released on October 25, 2016, a new article in the US News and World Report discusses gender-based differences in autism and the importance of the Autism Science Foundation’s Autism Sisters Project. Click here to read the article and here to watch the video.
While still rare, there are cases where an autism diagnosis is not made until adulthood. Why have these people been missed and what do they need? How did they go for so long without anyone recognizing that they needed help? A new study from the lab of Dr. Francesca Happe in the UK investigates the […]
In addition to risks of anxiety, ADHD, mood disorders and other psychiatric issues, people with autism (and their siblings) show increased risk of substance abuse issues. This information comes from a large Scandinavian registry study that included over 26,000 individuals with ASD. On this week’s podcast Dr. Alycia Halladay Ross discusses what this means for […]
The Children’s Health Exposure Analysis Resource (CHEAR) is now accepting requests for services. CHEAR is a program funded by the National Institute of Environmental Health Sciences “to advance understanding about how the environment impacts children’s health and development.” The cutoff date for requesting CHEAR services for the Round 1 Review Cycle is this Friday, October 14, 2016. You […]
Two studies recently add to an ever-growing body of literature around undiagnosed siblings of individuals with autism. While in autism features there is evidence of the “broader autism phenotype” in female siblings, there is no evidence of elevated sensory symptoms in those with a brother or system with autism. The more we understand about the […]
A new systematic review evaluated and organized existing scientific studies on the question of whether or not there was a relationship between air pollution and autism. After considering strengths and limitations of the body of research, the authors concluded that there is limited evidence between exposure to air pollution as a whole and ASD diagnosis. […]
Released September 15, 2016, this new report on CNN highlights the importance of brain donation and brain tissue research. To learn more about the Autism BrainNet, click here.
PCB’s, or Polychlorinated biphenyls is a group of over 200 different manufactured chemicals which stopped being used decades ago. However, they don’t break down and widespread pollution of these chemicals means that they are still all over the environment and we continue to be exposed to them. This week, Dr. Kristen Lyall from Drexel University showed […]
Recently, the practice of Applied Behavioral Analysis, or ABA, has come under fire in the autism blogosphere for being abusive and manipulative with the purpose of mind control. Instead of defending the practice, or pointing out the factual errors in recent articles, ASF realized the most productive way to address some of the issues is […]
Thanks to our summer intern Priyanka Shah, this week we provide an 8 minute tutorial on how to read the scientific literature in autism. It includes what are the important points of an abstract, where to get the summary points, and how to get access to the journal articles if you are 99.99% of the people […]
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Siblings of individuals with autism, and sometimes parents, can show mild features of autism that don’t meet ASD diagnostic criteria. This is called the broader autism phenotype. Sometimes they also show emotional and behavior problems, ADHD, tic disorder and an autism diagnosis. This week’s podcast summaries new findings on the broader autism phenotype with the […]
Released July 27th, 2016, Rolling Stone Magazine reports on the dire situation facing adults with autism after age 21 in a feature titled, “Luke’s Best Chance.” Click here to read the full article.
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ASF President speaks out in the Wall Street Journal about the roles of parents in autism advocacy Parent-advocates of children with chronic conditions have long worked toward finding cures. Adult self-advocates are shifting the focus to goals of independent work and living. Children with disabilities or chronic medical conditions, including autism and muscular dystrophy, have grown up […]
This week’s podcast is on a topic suggested by listeners- aggressive behaviors in autism. Our summer intern, Priyanka Shah, describes the risk factors and treatments for aggression. Although not a core symptom of autism, aggression can affect the development of social relationships. Studies show that aggression increases stress in parents and teachers more than other […]
This week’s podcast summarizes a new neural stem cell study and a recent review article on IGF-1 treatment in developmental disorders. IGF stands for Insulin Growth Factor and is essential for generation of new neurons, and shaping and health of existing neurons. Patients with autism spectrum disorder are already starting to be treated with IGF-1, […]
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The Autism Science Foundation invites applications for its Pre- and Postdoctoral Training Awards from graduate students, medical students and postdoctoral fellows interested in pursuing careers in basic and clinical research relevant to autism spectrum disorders. Apply for a Fellowship
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In a landmark alliance, known as Project TENDR, leaders of various disciplines have come together in a consensus statement to say that many of the chemicals found in everyday products can result in neurodevelopmental disorders, including autism and attention-deficit disorders. ASF Chief Science Officer Alycia Halladay will be answering questions on a live chat over Facebook […]
The Simons Foundation Powering Autism Research for Knowledge (SPARK) is hosting a 90 minute online webinar on July 7th, 2016 at 1 p.m. EST, discussing challenging behaviors in children with autism. Challenging behaviors can lead to higher stress levels in families, and interfere with a child’s education and social interactions both in school and the community. Dr. Bridget Taylor is the […]
Dr. Joseph Piven, member of the High Risk Baby Siblings Research Consortium, will present a 2 hour webinar as part of the INSAR Summer Institute on June 30th at 2PM – 4PM EST. To learn more or register, click here: http://www.autism-insar.org/research-opportunities/summer-institute2016
Studies looking at interventions in autism have been plagued with issues of: what treatments will work best in which people, and use of instruments to detect change that were never designed for use in people with autism. Recently, a new instrument was developed to look at improvements in social – communication in autism. This the […]
The IACC has issued an Open Request for Public Comment on the 2016 IACC Strategic Plan for Autism Spectrum Disorder (ASD) Please help identify priority topics for inclusion in the 2016 IACC Strategic Plan for ASD. The new plan will cover research, services and policy issues related to the 7 Questions covered in the IACC […]
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Finding novel distinctions between the sAPPα-mediated anabolic biochemical pathways in Autism Spectrum Disorder and Fragile X Syndrome plasma and brain tissuePublished June 9, 2016
Researchers are looking for biochemical differences in two similar developmental disorders, Autism Spectrum Disorder and Fragile X Syndrome. To do this, they compared brain tissue of affected brains with typical ones and looked for varying levels of a specific protein. 2016 sAPPα-mediated anabolic biochemical pathways in Autism Spectrum Disorder and Fragile X 2
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ASF fellow Dr. Donna Werling from UCSF will be presenting a webinar on June 22nd at 3PM EST. She will review data on use of genetics in humans and animals to study the causes of sex differences, and highlight ASF funding in moving forward on this topic. It is a great way to learn more […]
In a recent study published in Nature, Dr. Shannon Ellis looks past the sequence of genes and uses gene expression profiling to understand the similarities between autism, schizophrenia and bipolar disorder. Using brain tissue from people affected with these disorders provided through the Autism BrainNet, she demonstrates a common decrease in gene expression relating to […]
Last week, over 2000 autism researchers convened in Baltimore, Maryland for the largest meeting in the world dedicated to sharing the latest information in autism research. This week’s podcast summarizes some of the meeting, with help from the ASF travel awardees. The topics ranged from causes (genetic and environmental) to interventions in real-world settings to […]
Scientists at Duke Health, including ASF fellow Alexandra Bey, recently showed that targeting a brain receptor in mice with a specific type of autism could ease repetitive behaviors and improve learning in some animals. This report, published in Nature Communications, suggests that among more than a dozen different lines of mice developed around the world to mirror […]
In the 3rd Environmental Epigenetics webinar co-organized by ASF, AS and the Escher Fund for Autism, Dr. Christopher Gregg from University of Utah describes genomic imprinting. This is an epigenetic process where in certain genes, one copy inherited from either the mother or the father is silenced, so only the other is expressed. Imprinting is […]
In a new study published JAMA Pediatrics yesterday examined psychiatric records of siblings of people with autism living in Finland. They found the rates of ASD, ADHD, ID, childhood emotional disorders, learning and coordination disorders, conduct and oppositional disorders, and tic disorders, were more frequent among siblings of siblings with ASD. Also, there was an increase in schizophrenia […]
SFARI Launches SPARK, Nation’s Largest Research Initiative for Parents, Children and Adults with AutismPublished April 21, 2016
SPARK (Simons Foundation Powering Autism Research for Knowledge) is a national autism research initiative that will connect individuals with a professional diagnosis of autism and their biological family members to research opportunities to advance the understanding of autism. The project is now open to all families. To read more, and to participate, go to www.sparkforautism.org.
On this week’s podcast, the #ASFautismTed talks will be summarized in 10 minutes. The podcast also includes pictures from the day in the video portion. The full talks will be up on the ASF website soon, but if you can’t wait, here is a recap: http://asfpodcast.org/?p=180.
The genetics of autism is complicated. So scientists are taking a new approach. Instead of looking at genes associated with the bigger autism diagnosis, researchers at the University of Miami are considering how genes influence specific autism features present very early on in life. In this week’s podcast, two investigators, Devon Gangi and Nicole McDonald, explore […]
The types of gene mutations that contribute to autism are more diverse than previously thought, report researchers at University of California, San Diego School of Medicine in the March 24 online issue of The American Journal of Human Genetics. The findings, they say, represent a significant advance in efforts to unravel the genetic basis of autism […]
Studies of very early signs of autism has led to better recognition of early signs and driven earlier and earlier interventions. These interventions have improved the lives of people with autism. These early autism symptoms are seen before a diagnosis can be made. Biological signs of autism before a diagnosis could even further improve early intervention. […]
About 25-30% of children with autism show language impairment or no language at all, and these families often use assisted communication devices like picture exchange to help their children communicate. Recently, electronic communication devices like the iPad have revolutionized the way that people communicate, but little research has been done on how and if they […]
On Thursday, ASF, the Escher Fund for Autism and Autism Speaks co-organized the second in a series of webinars on environmental epigenetics. These webinars are open to the public and provide discussions on the role of gene/environment interactions in autism led by leading researchers in the field. This month, the presentations were given by Dr. […]
On Friday, February 19, the NIH organized a workshop on regression in autism. It included autism researchers as well as neurobiologists studying regression in other disorders, specifically Rett Syndrome. Rett Syndrome is characterized by a regression in symptoms around 18-30 months of age but is the result of a known genetic mutation. Because the genetic mutation […]
Universal early screening for autism is highly effective in identifying children who have autism, and early intervention is critical to ensure optimal outcomes for children with autism. Earlier today, we were disappointed to hear that the USPSTF released a final recommendation of “insufficient evidence” with regards to the benefits of universal screening in producing better […]
In honor of President’s Day in the United States, today’s podcast is a summary of a few more recent studies on employment of people with autism spectrum disorder. In addition to identifying challenges between the perspectives between employees and employers on the purpose of job supports, new methods to increase and maintain employment of people […]
On March 3rd, Autism Science Foundation, Escher Fund for Autism and Autism Speaks and the are partnering to bring the community a set of presentations and commentary on how environmental exposures may affect gene expression. Dana Dolinoy from U. Michigan and Carol Yauk from Health Canad will both explain how the environment could influence genetic risk factors […]
Using high risk baby siblings research design, scientists at Yale University showed that as babies, girls with autism show an unusual pattern of social attention for their age, spending most of their time looking at faces. This is in stark contrast to findings in boys. Together with other data, the authors conclude that this early social behavior […]
This week saw two studies advancing a new type of animal model for autism: the monkey. Environmental factors had been studied using this model, but this week saw the very first genetic model of autism in a monkey that also demonstrates features of autism. At the same time, another study published data on a new test to […]
After the domains of social and communication were merged together under ‘social communication’ in the DSM5, understanding what makes up these symptoms is more important than ever. Researchers from Center for Autism and the Developing Brain and UCSF drilled down to distinguish different types of social communication and which were most specific to autism. Using […]
This week in Science Reports, an article showed that the risk of autism is further increased in individuals with a specific mutation on chromosome 22 when another mutation is present. One of these mutations is in a gene that is known to be affected by different environmental factors. Scientists are using this data to help understand […]
Many people wonder why researchers study recognition of facial expression in people with ASD. Not only is it a core symptom, it has consequences for daily functioning. As Matthew Lerner from Stonybrook University explains, it doesn’t simply explain everything but it does provide insight into social processes and friendships. A set of two studies from […]
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2015 was an unprecedented year for autism research with many significant advances that will improve the lives of people with autism. Just last week, for example, the CDC reported a 5-month decrease in the age that children are first being evaluated for autism, which means families are learning the signs, acting earlier, and, hopefully, starting early intervention services earlier. In 2015, we changed the way we think about females with autism, gained a better understanding of the underlying genetic causes of autism, and made important progress in both behavioral and medical interventions.
Day and Nighttime Excretion of 6-sulphatoxymelatonin in Adolescents and Young Adults with Autistic DisorderPublished December 8, 2015 in Psychoneuroendocrinology
Low melatonin excretion was observed in autism, both at daytime, nighttime, and during 24h collection. Nocturnal excretion of melatonin was negatively correlated with autism severity in the overall level of verbal language, imitative social play, and repetitive use of objects.
Most patients with PCDH19 mutations exhibit a distinctive electroclinical pattern of focal seizures with affective symptoms, suggesting an epileptogenic dysfunction involving the frontotemporal limbic system. Awareness of this distinctive phenotype will likely enhance recognition of this disorder.
The National Institute of Mental Health (NIMH) has signed an agreement to establish a collaborative, nationwide effort for the collection, storage, and distribution of postmortem human brain tissue for the benefit of autism research. The agreement with Foundation Associates LLC will coordinate the efforts of two independent networks of human brain tissue repositories, the National Institutes of Health NeuroBioBank (NBB) and the Autism BrainNet (ABN).
What is the real prevalence of autism? It depends on how you ask the question. But however it is asked, the answer is too high. Additionally, those with autism are entering the educational system where interventions are built in an "ivory tower." Interventions need to be adapted and implemented in real world settings with real […]
This week saw two new studies on the love hormone called oxytocin. The results are mild and focused on one type of symptom, but exciting and promising nonetheless. Also, a short recap last weeks podcast where High Risk Baby Siblings researchers are finding that the range of possible issues that kids at risk have isnt focused just on autism symptoms. This and more on the ASF podcast!
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Sleep Disruption as a Correlate to Cognitive and Adaptive Behavior Problems in Autism Spectrum DisordersPublished October 8, 2015 in Research in Developmental Disabilities
The results indicate that quality of sleep, especially sleep duration, may be related to problems with day-time cognitive and adaptive functioning in children with autism and PDD-NOS.
The Autism Science Foundation Names Financial Sector Veteran And Extraordinary Ventures Founder Gregg Ireland As ChairmanPublished October 8, 2015
The Autism Science Foundation announced today that Gregg Ireland will become its board chairman effective January 1, 2016, following a unanimous vote by its board of directors.
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If you missed the October 1st webinar on Early Germline (sperm and egg) mutations and the heritability of autism, dont worry, we have it recorded on www.asfpodcast.org. The webinar explored emerging concepts in basic reproductive biology and also the heritability of ASDs. We know that autism is highly heritable, in the sense that ASD risk is higher among siblings, but it’s not shown to be highly “genetic” in the classic sense that these traits or genes are passed from generation to generation.
ASF Board Member Dr. Paul Offit comments on robust new study addressing each of the many ways in which people have thought vaccines could cause autism. Dr. Offit comments, in part: The fear that vaccines cause autism has been a tale of changing hypotheses… The primate study by Gadad et al. addresses all three concerns.”
All are invited to the first in an ongoing series of free online symposia on the environmental epigenetics of autism, Oct. 1st at 1 pm Eastern. Speakers will include cell biologist Amander Clark, of UCLA, and geneticist Ryan Yuen, of Torontos SickKids Hospital.
Jennifer Foss-Feig, PhD at Yale University recently received an accelerator grant to expand her research project to include individuals with autism. Why? She theorizes that the way schizophrenia is classified and conceptualized may be helpful to the diagnosis of autism spectrum disorder. She recently published these ideas and wrote a blog for the ASF. You can read it here: https://autismsciencefoundation.wordpress.com/2015/08/24/is-it-time-to-rethink-the-symptoms-of-autism-a-commentary-by-jennifer-foss-feig-phd-yale-university/
The US Preventative Services Task Force announces comment period for their draft recommendation. Submit your comments by August 31, 2015 at http://www.uspreventiveservicestaskforce.org/Page/Document/UpdateSummaryDraft/autism-spectrum-disorder-in-young-children-screening
ASF, Autism Speaks and the American Academy of Pediatrics respond to U.S. Preventive Services Task Force draft recommendations on screening for ASD.Published August 3, 2015
At a time when 1 in 68 children is diagnosed with autism, early identification, diagnosis and treatment is crucial to give children the best opportunity to reach their full potential. The ambiguity of the statement offered by the US Preventative Services Task Force (USPSTF) on autism screening is troubling and unfortunately, may be easily misinterpreted. While the task force does not explicitly recommend against screening for autism, they state there is insufficient evidence to support autism-specific screening in clinical settings. Instead, they have called for more research in this area.As a result, the task force has failed to fully endorse screening despite an abundance of research that demonstrates it is effective in a variety of settings1-3, leads to earlier identification of autism4, and that this earlier identification provides opportunities for early intervention which improves the lives of children with autism5. Research has demonstrated that formal screening is more effective than relying on clinician judgement alone1,6. This is especially important in reducing racial and ethnic disparities in access to care7,8 Moreover, screening is quick, affordable and has no substantial risk. We intend to review the USPSTF report and its methodology to understand why it differs from other evidence-based recommendations from the American Academy of Pediatrics and from experts in the field of autism spectrum disorders. Every child deserves an early, accurate diagnosis and we are hopeful that after the review period the USPSTF reconsider their conclusions. You can read more about the recommendations and response here.There are a number of world renowned autism researchers who agree with this position. They include:Bryan King, Seattle Childrens HospitalAmi Klin, Emory UniversityDiana Robins, Drexel UniversityCeline Saulnier, Emory UniversityRobins DL. Screening for autism spectrum disorders in primary care settings. Autism : the international journal of research and practice. 2008;12(5):537-556.Miller JS, Gabrielsen T, Villalobos M, et al. The each child study: systematic screening for autism spectrum disorders in a pediatric setting. Pediatrics. 2011;127(5):866-871.Robins DL, Casagrande K, Barton M, Chen CM, Dumont-Mathieu T, Fein D. Validation of the modified checklist for Autism in toddlers, revised with follow-up (M-CHAT-R/F). Pediatrics. 2014;133(1):37-45.Herlihy LE, Brooks B, Dumont-Mathieu T, et al. Standardized screening facilitates timely diagnosis of autism spectrum disorders in a diverse sample of low-risk toddlers. Journal of developmental and behavioral pediatrics : JDBP. 2014;35(2):85-92.Pierce K, Carter C, Weinfeld M, et al. Detecting, studying, and treating autism early: the one-year well-baby check-up approach. The Journal of pediatrics. 2011;159(3):458-465 e451-456.Wetherby AM, Brosnan-Maddox S, Peace V, Newton L. Validation of the Infant-Toddler Checklist as a broadband screener for autism spectrum disorders from 9 to 24 months of age. Autism : the international journal of research and practice. 2008;12(5):487-511.Khowaja MK, Hazzard AP, Robins DL. Sociodemographic Barriers to Early Detection of Autism: Screening and Evaluation Using the M-CHAT, M-CHAT-R, and Follow-Up. Journal of autism and developmental disorders. 2015;45(6):1797-1808.Daniels AM, Halladay AK, Shih A, Elder LM, Dawson G. Approaches to enhancing the early detection of autism spectrum disorders: a systematic review of the literature. Journal of the American Academy of Child and Adolescent Psychiatry. 2014;53(2):141-152.
Dup15, an organization representing families with one of the most common genetic causes of autism, held their annual family and science meeting in Orlando this week. Hear more about the science on the ASF podcast. www.asfpodcast.org
This week on the ASF podcast, we talk to @drdgsmith from Autism Speaks about the new study which turns skin cells into brain cells. It iis fascinating and important, but is not sufficient to study the brains of people with autism. Hear more on www.asfpodcast.org
Russell Port, an ASF funded pre-doctoral fellow at Penn, discusses a new approach in translational research that involves understanding the importance of neural circuits, the potential bridge between animal model findings and clinical treatments. Read more on the ASF Blog.
On the basis of experimental and observational research, certain pesticides may be capable of inducing core features of autism, but little is known about the timing or dose, or which of various mechanisms is sufficient to induce this condition.
The Autism Science Foundation is inviting applications for Research Accelerator Grants of up to $5000 to enable researchers to expand the scope or increase the efficiency of existing grants, or to take advantage of changes or findings that have occurred in or around the project that warrant more funding. These grants are designed to expand the scope, increase the efficiency and improve final product dissemination of active autism research grants. Applications must be received by October 2, 2015 and/or April 1, 2016.
Veronica Kang, recipient of ASF Undergraduate Summer Research Fellowship discusses the results of her honors thesis project and the impact of ASF funding on her career. Read more on the ASF Blog here: https://autismsciencefoundation.wordpress.com/2015/06/30/the-asf-undergraduate-research-fellowships-help-build-autism-researchers/
Dennis Wall, PhD, an autism researcher at the School of Medicine, is leading a new project to establish the largest-ever collaborative, open-access repository of bioinformatic data on autism
Previously understudied, a special issue of the science journal Molecular Autism dedicates space to females with ASD. Leading the list is a summary of the October, 2014 meeting on gender issues co-sponsored by ASF. Download all of the articles free by clicking here http://www.molecularautism.com/series/sexdifferences?utm_campaign=BMC18421C&utm_medium=BMCemail&utm_source=Teradata
Eliminating the Aspergers label and categorizing it under Autism Spectrum Disorder was one of the most controversial changes to the DSM-5. Parents and adults with Aspergers denounced this diagnostic revision, fearing that being a member of the autism group would contribute to greater stigma. Despite these popular convictions, two recent studies tested the effect of clinical labels on peer perception and concluded no significant difference between a label of Aspergers or ASD. In fact, disclosing any clinical information from the start resulted in more positive attitudes and higher chances for treatment success. Read more about the implications of these studies for higher education and other stakeholders on the ASF blog: https://autismsciencefoundation.wordpress.com/2015/06/15/aspergers-vs-asd-whats-in-a-name/
A new study replicated the finding of increased risk of having a child with autism among older parents. Because of the enormous size of the study, some new risk groups were identified with regards to age, but what does these findings mean and what should parents know? Listen to the ASF podcast to find out, and hear about vocational programs that work. https://youtu.be/P4EkaYNrMjM
There has been recent media attention to a study which proposes the use of MDMA to treat social anxiety in people with autism. What is MDMA and is it safe? Read more on the ASF blog here: https://autismsciencefoundation.wordpress.com/
To learn more about the latest science being discovered, follow the link below.
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Male toddlers with autism have significant structural differences in their brains compared to females with the condition, according to research published in the open access journal Molecular Autism.
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Scientists are discovering things in the brains of babies with autism before they are diagnosed. Jason Wolff, PhD explains in his blog. Interested in participating and getting free evaluations for your infant? The bottom of the blog post has information.
The results of this meta-analysis support an association between advancing maternal age and risk of autism. The association persisted after the effects of paternal age and other potential confounders had been considered, supporting an independent relation between higher maternal age and autism.
Maternal metabolic conditions may be broadly associated with neurodevelopmental problems in children. With obesity rising steadily, these results appear to raise serious public health concerns.
ASF Podcast: What Autism Looks Like Before a Diagnosis and What it Means for Clinicians in the CommunityPublished May 8, 2015 in Autism Science Foundation
Two high impact research reports from the High Risk Baby Siblings Research Consortium that will impact clinical practice. The first looks at the stability of a diagnosis and whether an 18 or 24 month screen is enough. The second identifies a brain structure altered in autism even before a diagnosis can be made.
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The BSRC study on stability explained on this weeks podcast 18 and 24 month screenings may not be enough, but if there is a diagnosis at 18 months, no need to keep checking.
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ASF Postdoctoral Fellow Jessica Bradshaw answers questions about infants with ASD: How do we know when to intervene? What are the best treatments? And do they work?
April 2nd, 2015 was designated World Autism Awareness Day, celebrated with ribbons, fundraisers, and blue lights displayed in cities around the world. However, for parents of children with autism, everyday is Autism Awareness Day.
The Autism Navigator is a new web-based resource for families, clinicians, and educators. So what does it do? Hear directly from co-creator Amy Wetherby on this weeks podcast. Also a sneak peek at a new study emphasizing the need for repeated screenings for kids at risk for ASD.
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While stability of an autism diagnosis is high at 18 months, symptoms emerge and evolve over time and many may not be reach a diagnostic threshold until 3 years. Therefore, concerned parents need to continue screening and evaluations through 3 years of age. A new baby siblings research consortium study examined the stability of diagnosis in over 400 at-risk infants.
A new study from the Kennedy Krieger Institute in Baltimore indicates that generally girls are getting diagnosed with autism at a later age than boys, perhaps because they exhibit different and less severe symptoms. The study is based on data from the Institute’s Interactive Autism Network, an online registry of almost 50,000 individuals and their families affected by autism. In the registry, age of first diagnosis was available for 9,932 children, and 5,103 had completed the Social Responsiveness Scale, which identifies the presence and severity of social impairment.
Miss the ASF Day of Learning Ted-Style Talks? This weeks podcast provides a 10 minute summary of the highpoints of the presentations.
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The Autism Navigator, A Tool to Help Parents and Professionals with Early Signs of ASD, Now Available OnlinePublished April 20, 2015 in Autism Navigator
Please join Autism Navigator in celebrating the launch ofAbout Autism in Toddlers, their first free tool for the public. About Autism in Toddlers About Autism in Toddlers is a free tool for families, professionals, or anyone interested in learning about autism spectrum disorder (ASD). It is available free of charge. You will learn about • […]
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Two separate studies published last week independently add to the body of evidence showing that genes and environment, together, are important to study risk factors in autism. The first is a study looking at the risk of autism in mothers who had diabetes and the other is an analysis of epigenetic markers from dads of kids with autism. While they tackle two different angles, they have a common thread: factors or mechanisms of the combined effects of genes/environment in ASD.
Former First Lady and mental health activist Rosalynn Carter and Autism Science Foundation founder Alison Singer discuss the field of autism research. On April 22, the Autism Science Foundation will hold its annual Day of Learning event, featuring a series of short talks from autism researchers and advocates, covering critical issues in autism and mental health.
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Researchers have been making tremendous progress in their efforts to understand the causes of autism, as well as which interventions may be most effective to help children with the disorder thrive.This work is especially critical as the number of children in the U.S. with autism grows. Approximately 1 in 68 children in the U.S. currently has autism, an increase of nearly 30 percent in recent years — at least partly due to greater awareness and improved diagnostics.
Delays in diagnosing and treating autism often occur when doctors ignore parents’ concerns about their child’s early development, a new study suggests.A team led by Dr. Katharine Zuckerman, of Oregon Health and Science University in Portland, compared the medical records of more than 1,400 children with autism against those of 2,100 children with other forms of delayed intellectual development.
A new study published in the Journal of Autism and Developmental Disorders provides an explanation on the challenges and unique skills of siblings of children with an ASD. Hear more on this weeks ASF science podcast.
A Novel Approach of Homozygous Haplotype Sharing Identifies Candidate Genes in Autism Spectrum DisorderPublished April 8, 2015 in Human Genetics
A large scale analysis identifies candidate genes which may contain low-frequency recessive variations contributing to ASD
ASF Blog Post: Confused About the New Autism Risk Findings and IVF? A New Blog Talks to an Expert for InterpretationPublished March 30, 2015 in Autism Science Foundation
Read the full post at www.autismsciencefoundation.wordpress.com.
Jill Silverman from UC Davis reports on pre-clinical research findings that may lead to a reconsideration of the arbaclofen trial that was discontinued a few years ago.
NIEHS Accepting Applications for Travel Awards to Environmental Epidemiology of Autism Research Network MeetingPublished March 25, 2015 in NIEHS
NIEHS is accepting applications for a limited number of travel awards to the Environmental Epidemiology of Autism Research Network meeting at IMFAR in Salt Lake City. These awards are targeted at trainees and early stage/new investigators, and will provide partial travel support.
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Previous studies have shown an improvement in ASD related behaviors following administration of omega-3 fatty acid supplementation which have all failed to reach statistical significance. There has also bee conflicting data on the potential therapeutic effects of omega-3 fatty acids in ASD and unanswered questions about the timing of treatment. However a recent study published in Molecular Autism utilizing a randomized controlled trial design in preschool children reported no improvements in behavior, in fact, the omega-3 treatment group showed some worsening in externalizing behaviors over the study.
A new study looking at intervention for premature infants in the NICU suggests that it also might be helpful to prevent symptoms of autism.
This weeks science podcast highlights a study which uses the results from Autism BrainNet resources to inform blood based genetic diagnosis in toddlers. Genes that are differentially expressed in autism with the most complex interactions are also the ones that are expressed in brain tissue of affected individuals. While the biomarker is still too early for market, these findings strengthen the utility of the assay.
Neuronal Connectivity as a Convergent Target of Gene-Environment Interactions that Confer Risk for Autism Spectrum DisordersPublished March 8, 2015 in Neurotoxicology and Teratology
This review briefly summarizes the evidence implicating dysfunctional signaling via Ca2 +-dependent mechanisms, extracellular signal-regulated kinases (ERK)/phosphatidylinositol-3-kinases (PI3K) and neuroliginneurexinSHANK as convergent molecular mechanisms in ASD, and then discusses examples of environmental chemicals for which there is emerging evidence of their potential to interfere with normal neuronal connectivity via perturbation of these signaling pathways.
Neuronal Connectivity as a Convergent Target of Gene-environment Interactions that Confer Risk for Autism Spectrum DisordersPublished March 8, 2015 in Neurotoxicology and Teratology
This review briefly summarizes the evidence implicating dysfunctional signaling via Ca2 +-dependent mechanisms, extracellular signal-regulated kinases (ERK)/phosphatidylinositol-3-kinases (PI3K) and neuroliginneurexinSHANK as convergent molecular mechanisms in ASD, and then discusses examples of environmental chemicals for which there is emerging evidence of their potential to interfere with normal neuronal connectivity via perturbation of these signaling pathways.
Recent evidence shows a subset of individuals with autism may have difficulties breaking down a plasticizer called bisphenol A. This metabolic pathway may be applicable to other exposures as well, and needs further study. The study didnt look at what causes autism, but it did show a difference that may be helpful in understanding autism symptoms in the future.
A new paper brings together a group of autism researchers representing a range of views and diverse disciplines in order to develop a consensus statement regarding the empirical and theoretical bases of Natural Developmental Behavioral Interventions (NDBI). These are behavioral interventions that utilize applied behavioral analysis (ABA) approaches through naturalistic settings. ABA is oftentimes wrongly equated with a specific method, like discrete trial training rather than being understood as an umbrella of empirically based practices. In NDBIs, the ABA approach is presented in settings such as play and daily routines and use child directed strategies. The goal of this new paper was to describe the influences of both behavioral psychology and developmental science on the evolution of early intervention for ASD and their influence on effective, evidence-based NDBIs. The paper also evaluates various NDBIs available for young children with ASD, examining the historical context in which they have been developed, common characteristics of established, evidence-based NDBIs, and requisite features of NDBIs. Because this type of intervention has a strong research base, the demonstrated efficacy of this type of intervention needs to be shared with the research community and the public sector. It summarizes the work of many researchers, working in parallel in different locations and publishing independently on a wide range of NBDI approaches. The effectiveness of this wide range of approaches may not yet be known to parents, clinicians, physicians and funding agencies. It acknowledges a common nomenclature should be adopted rather than having differently named protocols which may confuse the public, including insurance organizations, health care providers, and parents.
Scoring Goals For Autism To Receive Eastern Pennsylvania Youth Soccer’s Service to the Community AwardPublished February 25, 2015
On Saturday, March 7th Scoring Goals For Autism will receive Eastern Pennsylvania Youth Soccers Service to the Community Award at the associations Annual Awards Reception held at the Holiday Inn Conference Center-Lehigh Valley. The mission of Scoring Goals For Autism is to bring the beautiful game of soccer to all athletes and to raise much needed dollars for autism research. All proceeds from Scoring Goals For Autism benefit the Autism Science Foundation. Read the full press release from Eastern Pennsylvania Youth Soccer below.
On Friday, the most comprehensive non-human primate study to date which examined the safety of the current vaccine schedule on neurodevelopment, social behavior and cognition were published in Environmental Health Perspectives. The authors conclude that there was no evidence of effects of vaccines on any of these outcomes.
Much like mapping the human genome laid the foundations for understanding the genetic basis of human health, new maps of the human epigenome may further unravel the complex links between DNA and disease. The epigenome is part of the machinery that helps direct how genes are turned off and on in different types of cells. Epigenetic markers are just beginning to be understood in Alzheimers and cancer, with more work needed in autism spectrum disorders. Now that the epigenome has been mapped in over 100 cell types, this data can be used to better understand ASD.
Recent analysis of factors such as inter pregnancy interval and early profound and severe depravation show how there are many causes of ASD. They include inflammation, folate depletion, infertility and psychosocial factors. ASF funded fellows Matthew Maenner and April Levin explain in this weeks podcast.
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New Analysis Shows Autism Severity Dependent on Presence of Both Genetics and an Environmental FactorPublished February 6, 2015 in Autism Science Foundation
An analysis of the Simons Simplex Collection showed that autism symptoms were the most severe when the individual had the presence of copy number variations and a history of maternal illness or infection. To hear more about the study, listen to this weeks science podcast: http://youtu.be/cVK93NiFQEw
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Clinical Research Associates Now Accepting Applications for its Novel Outcome Measures for ASD Clinical Trials AwardPublished January 12, 2015 in Clinical Research Associates
Grants awarded through this request for applications are intended to develop and validate objective outcome measures for use in clinical trials in autism, addressing the current lack of quantitative, objective, reliable and sensitive tools to measure treatment response in behavioral and pharmacological trials. We seek innovative applications that will objectively and sensitively distinguish treatment effects from placebo response, reducing reliance on retrospective parental rating and assessment.
Transcriptome Analysis Reveals Dysregulation of Innate Immune Response Genes and Neuronal Activity-Dependent Genes in AutismPublished December 10, 2014 in Nature
Using resources from the Autism BrainNet, a new study in brains affected by autism revealed a common factor of activated immune cells. Led by Dr. Dan Arking at Johns Hopkins, the project analyzed dats collected from 72 individuals, both with and without autism The findings compared gene expression across these two groups and from different brain banks. It also utilized a large dataset that contains data on existing autism risk genes. This represents the largest dataset so far in studying gene expression in the brains of autism. Previous studies have been too small to make meaningful conclusions, because of the lack of tissue available. The team, which also included the University of Alabama at Birmingham, saw that in individuals with ASD, a type of immune cell called microglia was always active, with genes for inflammation always being turned on. Arking noted that he did not think that the inflammation itself as the root cause of autism, but that it is the marker of a downstream effect. This type of inflammation is not well understood but it highlights the lack of current understanding about how innate immunity controls neural circuits, Dr. Andrew West, associated professor of neurology at the University of Alabama at Birmingham said.
Event will feature the 2nd annual Autism TED-style Talks with Former First Lady Rosalynn Carter & NIMH Director Dr. Thomas Insel.
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The results of sequencing studies are helping autism researchers narrow down what genes to look for and where. They can now put forth a statistically sound estimate of the overall genetic contribution of de novo mutations of different categories to autism. However, they still cannot pinpoint the causal mutations for many cases of autism because the genomic background noise remains high.
Small pieces of RNA restore the expression of a key gene missing in Angelman syndrome and offer the promise of a highly specific cure, researchers reported Monday in Nature. Injecting these RNA snippets into the brains of mice missing one copy of this gene, called UBE3A, reverses their memory problems.
George Washington University Seeks Director of the Autism & Neurodevelopmental Disorders (AND) InitiativePublished December 2, 2014 in George Washington University
The George Washington University (GW) is seeking an exceptional research scholar for the position of AND Director and Professor endowed by The Carbonell Family Professorship in Autism and Neurodevelopmental Disorders (AND). The Director will play a principal role in defining specific goals in the areas of research, treatment, and policy, and will help develop partnerships, implement strategies, and oversee organizational structures ensuring the achievement of these goals. The successful candidate may receive a secondary appointment in an affiliated academic department based on credentials and approval.
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Copy number variations are known to play a role in autism spectrum disorders. In a novel approach to study CNVs that may be present in family members, scientists look at genes in multiple generations of families affected with or without ASD as well as other psychiatric disorders. In one family, a part of chromosome 11 jumped out as being important for autism and what is known as the broader autism phenotype. (This is when a person does not have a diagnosis but meets some of the criteria for ASD.) This region contains genes for mitochondrial function and detoxification, but was found in the only family where the specific mutation was passed on beyond just parent to child. This shows that the genetic risk factors are complex and not even the same within the same family.
Five projects to be funded (November 19, 2014 — New York, NY)—Today, the Autism Science Foundation, a not-for-profit organization dedicated to funding autism research, announced the recipients of its second round of research enhancement mini grants. These grants are intended to enable researchers to expand the scope or increase the efficiency of existing grants, or […]
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Explaining the Increase in the Prevalence of Autism Spectrum Disorders: The Proportion Attributable to Changes in Reporting PracticesPublished November 3, 2014 in Pediatrics
The prevalence of autism spectrum disorders has increased markedly in recent decades, which researchers have suggested could be caused in part by factors such as changes in diagnosis reporting practices. This study in Pediatrics sought to quantify the degree to which changes in reporting practices might explain this increase. Danish national health registries have undergone a change in diagnostic criteria in 1994 and the inclusion of outpatient contacts to health registries in 1995, thus Danish prevalence was studied. The study found that changes in reporting practices can account for most (60%) of the increase in the observed prevalence of ASDs in children born from 1980 through 1991 in Denmark, which supports the argument that the apparent increase in ASDs in recent years is in large part attributable to changes in reporting practices.
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Analyzing the sequences of more than 20,000 people, researchers have unearthed the largest and most robust list of autism genes so far, they reported in the journal Nature.These 50 high-confidence autism genes may help researchers understand the biological underpinnings of autism. The researchers found these genes by scouring the exomes, the protein-coding regions of the genome, looking for rare genetic glitches unique to people with autism.
Much of the genetic risk for autism may reside in regulatory regions of the genome, hidden from traditional methods of sequencing analysis. That’s the upshot of preliminary results from three studies presented at the 2014 American Society of Human Genetics Annual Meeting in San Diego. Together, the findings from these new studies show the promise of looking for autism risk in unusual places.
A group in the UK conducted an exhaustive literature search surrounding current studies on sex and gender differences and autism spectrum disorders. This literature search grouped studies into four categories, focusing on behavioral features, diagnosis and disparity issues, causes of disparity, and developmental trajectory. These same topics will be discussed on October 29 at the Sex and Gender Differences in ASD science workshop in New York, sponsored by the Autism Science Foundation and Autism Speaks.
About 20% of younger siblings of children with Autism Spectrum Disorder (ASD) will develop the condition by age 3. A new study by Yale School of Medicine researchers has found that 57% of these younger siblings who later develop the condition already showed symptoms at age 18 months. Published in the October Journal of the American Academy of Child & Adolescent Psychiatry, this is the first large-scale, multi-site study aimed at identifying specific social-communicative behaviors that distinguish infants with ASD from their typically and atypically developing high-risk peers as early as 18 months of age.
Mice with mutations in the autism-linked gene WDFY3 have enlarged brains reminiscent of those seen in some children with autism, finds a study published in Nature Communications. The brain overgrowth begins in the womb, the study found. WDFY3 plays a role in autophagy, a process that rids cells of damaged or unneeded parts. Mouse embryos with two copies of the mutant gene have enlarged brains and an excess of immature neurons that divide faster than usual. They also have misdirected patches of neurons. Similar changes have been observed in people with autism.
ASF has been honored with one of the first Top-Rated Awards of 2014 from GreatNonprofits! Read our reviews and share your story at http://greatnonprofits.org/org/autism-science-foundation
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There is less myelin in the brains of people with autism than in those of controls, according to a study published in Psychological Medicine. Myelin is an insulating material that allows neurons to fire rapidly. Researchers applied a method that measures myelin in living brains with autism for the first time. The researchers speculate that low myelin explains the weak connectivity observed in the brains of people with autism. Without proper insulation, electrical signals travel slowly along the axons, making it difficult for regions of the brain to coordinate their activity.
Mothers of children with autism are significantly less likely to report taking iron supplements before and during their pregnancies than the mothers of children who are developing normally, a study by researchers with the UC Davis MIND Institute has found. Low iron intake was associated with a five-fold greater risk of autism in the child if the mother was 35 or older at the time of the child’s birth or if she suffered from metabolic conditions such as obesity hypertension or diabetes. The research is the first to examine the relationship between maternal iron intake and having a child with autism spectrum disorder.
A new study reports that by the time they turn 1, infants who are later diagnosed with autism smile less often than those who do not develop the disorder. That suggests that reduced smiling may be an early risk marker for the disorder. In the study, published in the Journal of Abnormal Child Psychology, researchers examined 22 typically developing infants with no family history of autism and 44 infant siblings of children with the disorder. These so-called baby sibs have an increased risk for autism. In the new study, half of the 44 baby sibs later developed autism. The results of this study are important because clinicians often struggle to identify those baby sibs who will later develop autism versus those who may display autism-like traits but wont develop the disorder.
Dysregulation of Estrogen Receptor Beta, Aromatase, and ER Co-Activators in the Middle Frontal Gyrus of Autism Spectrum Disorder SubjectsPublished September 9, 2014 in Molecular Autism
In a study conducted at the medical college of Georgia, researchers found a reduction in estrogen receptors in the frontal cortex of brains of boys with ASD. They also found a decrease in the expression of an enzyme that regulates hormones in the brain. The researchers suggest that this may be one of the reasons for the sex difference in ASD, but these findings also point to a potential gene/environment interaction in the disorder. One of the drawback of this study, however, is that there were only 13 samples in each group. The reality is that there is a shortage of available brain tissue to study. If you’d like to learn more about brain tissue donation that will further autism research, visit TakesBrains.org.
Across the country and around the world, children are getting sick and dying from preventable diseasesin part because some parents are choosing not to vaccinate their children. Alison Singer, President of the Autism Science Foundation, and Dr. Amy Middleman, Adolescent Medicine Specialist at the University of Oklahoma’s Health Sciences Center, examine the science behind vaccinations, the return of preventable diseases, and the risks of opting out. Theyre both featured in the PBS NOVA documentary VaccinesCalling The Shots, which airs September 10, at 9 pm, on PBS.
Autism Treatment in the First Year of Life: A Pilot Study of Infant Start, a Parent-Implemented Intervention for Symptomatic InfantsPublished September 9, 2014 in Journal of Autism and Developmental Disorders
A new study conducted by researchers at the University of California Davis MIND Institute and published in the Journal of Autism and Developmental Disorders suggests that very early intervention can greatly reduce symptoms of autism as children age. The study looked at a 12-week treatment program with seven infants aged 9 to 15 months; researchers followed the children until they were 3 years old. Over time, these children showed fewer symptoms of autism. Although the sample size was small and it was not a randomized study, this study indicates exciting results from this type of intervention.
Services for Children with Autism Spectrum Disorder in Three Large Urban School Districts: Perspectives of Parents and Educators.Published September 5, 2014 in Autism
Researchers from Philadelphia, LA and Rochester addresses issues that is on the mind of every parent of a child with autism: What can I expect when my child with ASD enters school? The group interviewed parents, teachers and administrators in schools and asked them what their greatest challenges were, in hopes of identifying ways to address those problems. Across all three cities and across all the different groups some common themes emerged: first, the analysis identified and documented that there was underlying tension between all the groups. Parents were frustrated with the school system and some of the systems in place. Teachers also expressed frustration with the administrators and the system in general. Also, while need for training was identified, what was surprising was that everyone thought it was needed. Teachers thought it was needed for themselves, for their teachers aids, and even the administrators wanted to get in on the action. Finally, parents, teachers and administrators felt that there needs to be a cultural shift to support the idea of inclusion, rather than exclusion.
A new technique helps researchers trace the nerve fibers that connect brain regions by revealing how the fibers physically relate to curves and folds on the brains surface. The method was described in Medical Image Analysis. The technique examines the relationship between white matter, composed of nerve fibers and support cells, and gray matter, which is largely made of the cell bodies of the neurons the fibers sprout from. Preliminary findings support the theory that autism involves early, hyperconnected and dense brain growth before an abnormal decline, the researchers say.
To characterize people who carry deletions in 16p11.2 and 15q13.3, genetic regions linked to autism, two studies published this summer looked in detail at dozens of people with either deletion. The studies found that deletions in these regions lead to diverse symptoms that only sometimes include autism. The studies were published in the journals Biological Psychiatry and Genetics in Medicine.
As a babys brain develops, there is an explosion of synapses, the connections that allow neurons to send and receive signals. But during childhood and adolescence, the brain needs to start pruning those synapses, limiting their number so different brain areas can develop specific functions and are not overloaded with stimuli.Now a new study suggests that in children with autism, something in the process goes awry, leaving an oversupply of synapses in at least some parts of the brain.
People with autism often have trouble recognizing faces, and tend to avoid looking at others’ eyes. These deficits may contribute to their difficulty picking up on social cues. An adaptation of an adult face recognition test for children will make it easier to chart the development of childrens abilities, researchers say. The new test is described in a study published in Neuropsychologia.
The IACC Workshop on Under-Recognized Co-Occurring Conditions in Autism Spectrum Disorder that will take place on Tuesday, September 23, 2014, 9:00 a.m. to 5:00 p.m. ET at The National Institutes of Health, John Edward Porter Neuroscience Research Center, 35 Convent Drive, Building 35, Room 620, Bethesda, MD 20892.
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The configuration of methyl tags that modify DNA in sperm change as men get older, according to a study published PLOS Genetics. These alterations may help explain why children of older fathers are at increased risk for neuropsychiatric disorders such as autism. Researchers at the University of Utah collected sperm from 17 men, once in the 1990s and again in 2008. They found that the distribution of methyl tags, a particular kind of DNA modification, shows relatively consistent changes over time in the sperm. However, the study does not necessarily prove that these altered patterns survive past fertilization or influence the risk of disorders such as autism.
In a study published this week, Canadian infant sibs researchers examined very early symptoms in infants at risk for ASD. These are infants who have an older sibling affected with ASD and show a 1/5 recurrence rate. Meaning instead of 1/68, these kids have a 1/5 chance of having ASD. Because they were able to follow them over time, they assessed them carefully as they grew up. In this study, they were focused on smiling and affect. They showed that infants at risk for ASD that went on to get an ASD diagnosis didnt smile as much at 12-18 months of age. This is consistent with previous red flags of no warm joyful smiles but takes it a step farther and shows the duration and number of smiles is fewer in kids with ASD. Researchers are going to use this to improve the early signs and symptoms of autism and develop more targeted interventions for the early stages of ASD.
Mice modeling autism have trouble integrating different kinds of sensory information such as sight, sound and touch. A study published in Neuron reports that an imbalance between signals that calm neurons and those that excite them leads to these sensory problems.
A test designed to characterize natural, spontaneous language use in autism shows solid promise in its first trials in typically developing children. The results were published in the Journal of Autism and Developmental Disorders.The researchers assessed the ease of use and reliability of the test in 180 typically developing children in Michigan, ranging in age from 2 to 5 years. They confirmed that the youngest children can do the various tasks on the test and that the codes developed for the test match the skills of the oldest children. The researchers’ goal is to build a baseline of standard scores against which the scores of children with autism or other communication disorders can be compared.
At its core, autism is the same disorder worldwide. And ideally, it should be possible to identify it consistently and accurately everywhere. But most screening methods for the disorder were developed in the U.K. and U.S., and linguistic and cultural differences can affect their performance elsewhere.
ASF President Alison Singer on Good Morning America Comments on Research About Kids Moving Off the SpectrumPublished July 31, 2014 in Good Morning America
New research by Cathy Lord and Deborah Fein suggests 10% of kids with autism achieve “optimal outcome.” Autism Science Foundation President Alison Singer speaks about this new research on Good Morning America, saying there’s no miracle cure, and that we need more research so we can discover why certain children are improving so that the same opportunity for improvement can be expanded to more children.
Expansion of the Clinical Phenotype Associated with Mutations in Activity-Dependent Neuroprotective ProteinPublished July 23, 2014 in Journal of Medical Genetics
A new study has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal of Medical Genetics, presents findings that likely represent a definitive clinical marker for some patients’ developmental disabilities. Researchers identified a genetic change in a newly recognized autism-associated gene, Activity-Dependent Neuroprotective Protein (ADNP), in a girl with developmental delay. This change in the ADNP gene helps explain the cause of developmental delay in this patient. This same genetic change in ADNP was also found in a boy who was diagnosed with autism.
A lab called Autism BrainNet is collecting brains for study. The belief is that brain tissue study is the key to solving autism. Unlike with Alzheimer’s disease, where literally thousands of brains have been studied, during the last three decades only 100 autism brains have been studied. Four to five brains are donated for research every year. The Autism BrainNet study is looking to triple that number with the hope of answering some of the most basic questions about the disorder. For more information about the program go to: www.takesbrains.org
A variation in the CHD8 gene has a strong likelihood of leading to a type of autism accompanied by digestive problems, a larger head and wide-set eyes, a study in Cell reports. This discovery is part of an emerging approach to studying the underlying mechanisms of autism and what those mean for people with the condition. Many research teams are trying to group subtypes of autism based on genetic profiles. This is the first time researchers have shown a definitive cause of autism from a genetic mutation.
Can’t get enough soccer these days? Check out the new awesome video from Scoring Goals for Autism 2014!
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The Senate passed a bill Thursday night that reauthorizes federal support for autism programs. The Autism CARES Act, H.R. 4631, requires the Secretary of Health and Human Services to designate an official to oversee national autism spectrum disorder (ASD) research. It also extends autism education programs through 2019. The House passed the measure by voice vote last month and the Senate agreed to it through a unanimous consent agreement. The bill now heads to President Obamas desk for his signature.
Should We Believe the Centers for Disease Control and Preventions Autism Spectrum Disorder Prevalence Estimates?Published July 1, 2014 in Autism: The International Journal of Research and Practice
Autism: The International Journal of Research and Practice has published an important and interesting new editorial by Dr. David Mandell and Dr. Luc Lecavalier that challenges the methods the CDC uses to collect and publish autism prevalence data, now at 1 in 68.
“Atypical motor behaviors are common among children with autism spectrum disorders (ASD). However, little is known about onset and functional implications of differences in early motor development among infants later diagnosed with ASD. Two prospective experiments were conducted to investigate motor skills among 6-month-olds at increased risk (high risk) for ASD (N1 = 129; N2 = 46). Infants were assessed using the Mullen Scales of Early Learning (MSEL) and during toy play. Across both experiments, high-risk infants exhibited less mature object manipulation in a highly structured (MSEL) context and reduced grasping activity in an unstructured (free-play) context than infants with no family history of ASD. Longitudinal assessments suggest that between 6 and 10 months, grasping activity increases in high-risk infants.”
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Brief Report: Assessment of Early Sensory Processing in Infants at High-Risk of Autism Spectrum DisorderPublished June 27, 2014 in Journal of Autism and Developmental Disorders
“This study assessed sensory processing differences between 24-month infants at high-risk of autism spectrum disorder (ASD), each with an older sibling with ASD, and low-risk infants with no family history of ASD. Sensory processing differences were assessed using the Infant/Toddler Sensory Profile, a parent-reported measure. Groups were compared based on 3-year outcomes: (a) high-risk infants subsequently diagnosed with ASD; (b) high-risk infants without an ASD diagnosis; and (c) low-risk infants without an ASD diagnosis. Analyses showed that high-risk infants diagnosed with ASD have more difficulty with auditory processing (i.e., responses to auditory stimuli) and lower registration (i.e., lacking sensation awareness) compared to controls. Thus, behavioral responses to sensory input represent early risk markers of ASD, particularly in high-risk infants.”
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The Autism Science Foundation today released its request for applications for 2014 Research Enhancement Mini-Grants. ASF is inviting applications for grants of up to $5,000 to enable researchers to expand the scope or increase the efficiency of existing grants, or to take advantage of changes or findings that have occurred in or around an existing project that warrant more funding. Applications must be received by September 12, 2014.
This study is among the first randomized trials comparing 2 active interventions with a large sample of low-resourced families. Results suggest improvements in core autism deficits of joint engagement, joint attention, and symbolic play with relatively brief, caregiver-mediated interventions, but additional support is necessary to maintain and generalize these gains over time.
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OBJECTIVE:Our understanding of the influence of maternal race/ethnicity and nativity and childhood autistic disorder (AD) in African Americans/blacks, Asians, and Hispanics in the United States is limited. Phenotypic differences in the presentation of childhood AD in minority groups may indicate etiologic heterogeneity or different thresholds for diagnosis. We investigated whether the risk of developing AD and AD phenotypes differed according to maternal race/ethnicity and nativity.METHODS:Children born in Los Angeles County with a primary AD diagnosis at ages 3 to 5 years during 1998-2009 were identified and linked to 1995-2006 California birth certificates (7540 children with AD from a cohort of 1?626?354 births). We identified a subgroup of children with AD and a secondary diagnosis of mental retardation and investigated heterogeneity in language and behavior.RESULTS:We found increased risks of being diagnosed with AD overall and specifically with comorbid mental retardation in children of foreign-born mothers who were black, Central/South American, Filipino, and Vietnamese, as well as among US-born Hispanic and African American/black mothers, compared with US-born whites. Children of US African American/black and foreign-born black, foreign-born Central/South American, and US-born Hispanic mothers were at higher risk of exhibiting an AD phenotype with both severe emotional outbursts and impaired expressive language than children of US-born whites.CONCLUSIONS:Maternal race/ethnicity and nativity are associated with offspring’s AD diagnosis and severity. Future studies need to examine factors related to nativity and migration that may play a role in the etiology as well as identification and diagnosis of AD in children.
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A study out of the University of California Davis found that women who live near farmland where pesticides are applied are 60 percent more likely to give birth to a child with autism or other developmental delays. In the study, the association was stronger for women exposed during their second or third trimester. The study looked at three categories of pesticides: organophosphates, pyrethroids and carbamates; all three were found to have associations with ASD or other developmental delays.
Computer Vision Tools for Low-Cost and Noninvasive Measurement of Autism-Related Behaviors in InfantsPublished June 22, 2014 in Autism Research and Treatment
“The early detection of developmental disorders is key to child outcome, allowing interventions to be initiated which promote development and improve prognosis. Research on autism spectrum disorder (ASD) suggests that behavioral signs can be observed late in the first year of life. Many of these studies involve extensive frame-by-frame video observation and analysis of a child’s natural behavior. Although nonintrusive, these methods are extremely time-intensive and require a high level of observer training; thus, they are burdensome for clinical and large population research purposes. This work is a first milestone in a long-term project on non-invasive early observation of children in order to aid in risk detection and research of neurodevelopmental disorders. We focus on providing low-cost computer vision tools to measure and identify ASD behavioral signs based on components of the Autism Observation Scale for Infants (AOSI). In particular, we develop algorithms to measure responses to general ASD risk assessment tasks and activities outlined by the AOSI which assess visual attention by tracking facial features. We show results, including comparisons with expert and nonexpert clinicians, which demonstrate that the proposed computer vision tools can capture critical behavioral observations and potentially augment the clinician’s behavioral observations obtained from real in-clinic assessments.”
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The severity of core autism symptoms in young children goes hand in hand with the degree of the childrens difficulty with motor tasks, according to a study published in the April issue of the Adapted Physical Activity Quarterly. Early interventions, such as therapies that target social and communicative behavior, may alter autisms course. Building strong motor skills may help children with autism develop better social and communicative skills, especially in physically demanding play, the researchers say.
The average child with autism is 18 months old before his or her parents first begin to be concerned. Given the importance of early intervention, its crucial that parents and doctors both catch on to the symptoms as soon as possible. A study published in European Child and Adolescent Psychiatry finds that two autism screens are better than one at identifying toddlers who need specialized clinical services. These screens, such as the Modified Checklist for Autism in Toddlers (M-CHAT) and the Early Screening of Autistic Traits (ESAT), are used not to diagnose autism, but rather to identify children who need more specialized attention for example, from a child psychiatrist or a behavioral therapist.
Evidence of Reproductive Stoppage in Families With Autism Spectrum Disorder: A Large, Population-Based Cohort StudyPublished June 18, 2014 in JAMA Psychiatry
OBJECTIVE: To examine stoppage in a large, population-based cohort of families in which a child has received a diagnosis of ASD. CONCLUSIONS AND RELEVANCE: These results provide the first quantitative assessment and convincing statistical evidence of reproductive stoppage related to ASD. These findings have implications for recurrence risk estimation and genetic counseling.
Research published in JAMA Psychiatry shows that parents who have a child with autism are about a third less likely to choose to continue having children compared to parents who do not have a child with ASD. In the study, this “reproductive stoppage” did not occur until the child started showing symptoms or received a diagnosis of ASD. This led researchers to conclude that it was a conscious decision to stop having children, rather than another factor such as fertility problems.
Reversal of Autism-Like Behaviors and Metabolism in Adult Mice with Single-Dose Antipurinergic TherapyPublished June 17, 2014 in Translational Psychiatry
Researchers at UC San Diego have discovered that suramin, a drug that was originally developed to treat African sleeping sickness, reverses autism-like social behaviors in mice. This study proposes that the social difficulties and metabolism issues found in individuals with ASD could be improved with the use of suramin even in adults. While suramin has not been tested in humans, these findings could direct future research for autism therapies.
Longitudinal research has demonstrated that social outcomes for adults with autism are restricted, particularly in terms of employment and living arrangements. However, understanding of individual and environmental factors that influence these outcomes is far from complete. This longitudinal study followed a community sample of children and adolescents with autism into adulthood. Social outcomes in relation […]
In a sample of 50 verbally fluent adolescents and adults with autism spectrum disorders (age: 16-31 years; verbal IQ: 72-140), we examined the pattern of response and associations between scores on common measures of depressive symptoms, participant characteristics, and clinical diagnosis of depressive disorders. Beck Depression Inventory-Second Edition item descriptives in this autism spectrum disorder […]
Filed under: IACC Top Papers; IACC; Autism News; Autism Science
Comparing service use and costs among adolescents with autism spectrum disorders, special needs and typical developmentPublished June 9, 2014 in Autism
Autism spectrum disorder is a complex condition that requires specialised care. Knowledge of the costs of autism spectrum disorder, especially in comparison with other conditions, may be useful to galvanise policymakers and leverage investment in education and intervention to mitigate aspects of autism spectrum disorder that negatively impact individuals with the disorder and their families. […]
Having an accurate estimate of the economic cost of autism has many implications for service and system planning. The most recent estimates are almost a decade old and had to rely on many estimates for which there were no good data. Today in JAMA Pediatrics, researchers, including ASF Scientific Advisory Board member Dr. David Mandell, updated older estimates and further expanded our understanding of costs by estimating them for two countries: the United States and the United Kingdom. They also estimated costs separately for children and adults, and for individuals with autism with and without intellectual disability. To estimate costs, researchers reviewed the literature on related studies, conducting a thorough search of studies that estimated direct costs, such as education and service use costs, as well as indirect costs, such as lost wages for family members and the individual with autism. They found that for individuals with autism and intellectual disability, the average lifetime cost was $2.4 million in the US and $2.2 million in the UK. For individuals without intellectual disability, the average cost was $1.4 million in both the US and the UK. For children with autism, the largest costs were for special education and parents lost wages. For adults with autism, the largest costs were residential care and lost wages.
The cortex, the outer layer of the brain, grows rapidly in early childhood in people with autism and thins differently with age than it does in controls, two new studies report. Together, the studies support the theory that the brain grows too quickly and shrinks too soon in people with autism.
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“Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor. We identified all amniotic fluid samples of males born between 1993 and 1999 who later received diagnoses of autism, Asperger syndrome or PDD-NOS (pervasive developmental disorder not otherwise specified) (n=128) compared with matched typically developing controls. Concentration levels of ?4 sex steroids (progesterone, 17?-hydroxy-progesterone, androstenedione and testosterone) and cortisol were measured with liquid chromatography tandem mass spectrometry. All hormones were positively associated with each other and principal component analysis confirmed that one generalized latent steroidogenic factor was driving much of the variation in the data. The autism group showed elevations across all hormones on this latent generalized steroidogenic factor (Cohen’s d=0.37, P=0.0009) and this elevation was uniform across ICD-10 diagnostic label. These results provide the first direct evidence of elevated fetal steroidogenic activity in autism. Such elevations may be important as epigenetic fetal programming mechanisms and may interact with other important pathophysiological factors in autism.”
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Researchers at the University of Cambridge have found that children who later develop autism are exposed to heightened levels of steroid hormones (such as testosterone, progesterone and cortisol) in the womb. This finding may be related to the fact that autism affects males more than females.
People with autism tend to carry mutations that duplicate or delete several genes at once, according to a large study published in the American Journal of Human Genetics. Previous studies have shown that people with autism have more large deletions or duplications of DNA, also known as copy number variations (CNVs), than controls do. The new study, the largest to look at CNVs in people with autism thus far, confirms this finding. It also found that in people with autism, the CNVs are more likely to affect genes linked to intellectual disability and fragile X syndrome.
The autism brain imaging data exchange: towards a large-scale evaluation of the intrinsic brain architecture in autismPublished June 1, 2014 in Molecular Psychiatry
Autism spectrum disorders (ASDs) represent a formidable challenge for psychiatry and neuroscience because of their high prevalence, lifelong nature, complexity and substantial heterogeneity. Facing these obstacles requires large-scale multidisciplinary efforts. Although the field of genetics has pioneered data sharing for these reasons, neuroimaging had not kept pace. In response, we introduce the Autism Brain Imaging […]
The Icahn School of Medicine at Mount Sinai has joined Autism BrainNet, a new network of research institutions created to collect, store and distribute postmortem brain tissue resources that will help scientists gain a deeper understanding of the causes, treatment and cure of autism spectrum disorder, which now affects an estimated one in 68 children. Launched by the Simons Foundation and Autism Speaks, Autism BrainNet recently joined with the Autism Science Foundation to unveil the Autism BrainNet registration site, It Takes Brains (www.TakesBrains.org)
Brain-Expressed Exons Under Purifying Selection are Enriched for De Novo Mutations in Autism Spectrum DisorderPublished May 25, 2014 in Nature Genetics
A universal challenge in genetic studies of autism spectrum disorders is determining whether a given DNA sequence alteration will manifest as disease. Among different population controls, we observed, for specific exons, an inverse correlation between exon expression level in brain and burden of rare missense mutations. For genes that harbor de novo mutations predicted to be deleterious, we found that specific critical exons were significantly enriched in individuals with ASD relative to their siblings without ASD. Furthermore, our analysis of genes with high exonic expression in brain and low burden of rare mutations demonstrated enrichment for known ASD-associated genes and ASD-relevant fragile-X protein targets. Our results suggest that brain-expressed exons under purifying selection should be prioritized in genotype-phenotype studies for ASD and related neurodevelopmental conditions.
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Top three takeaways from IMFAR 2014: autism is growing up, the future looks promising, and scientists are getting social.
Full Video of Committee on Oversight and Government Reform Hearing: Examining the Federal Response to Autism Spectrum DisordersPublished May 20, 2014
A full video of yesterday’s committee hearing is now available.
Examining the Federal Response to Autism Spectrum Disorders: Government Oversight Committee Meets TodayPublished May 20, 2014
Today at 9:00am the Committee on Oversight and Government Reform meets for a hearing entitled “Examining the Federal Response to Autism Spectrum Disorders”. A live stream of the hearing is available at http://oversight.house.gov/hearing/examining-federal-response-autism-spectrum-disorders
A great story featuring the Center for Discovery, and including a picture of ASF President Alison Singer’s daughter, Jodie.
Adults with autism may suffer from various health problems, ranging from psychiatric conditions to motor symptoms that resemble Parkinsons disease, according to two studies presented Thursday at the 2014 International Meeting for Autism Research in Atlanta.
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The Simons Foundation, Autism Speaks and the Autism Science Foundation today announced the launch of the Autism BrainNet registration site, It Takes Brains (www.takesbrains.org). Autism BrainNet is a consortium of academic sites funded collaboratively by the Simons Foundation and Autism Speaks to collect, store and distribute brain tissue resources necessary for researchers to understand the underlying neurobiology and genetics of autism.
Corticosteroid Therapy in Regressive Autism: A Retrospective Study of Effects on the Frequency Modulated Auditory Evoked Response (FMAER), Language, and BehaviorPublished May 15, 2014 in BMC Neurology
Steroid treatment was associated with a significantly increased FMAER response magnitude, reduction of FMAER response distortion, and improvement in language and behavior scores. This was not observed in the non-treated group. These pilot findings warrant a prospective randomized validation trial of steroid treatment for R-ASD utilizing FMAER, EEG, and standardized ASD, language and behavior measures, and a longer follow-up period. Children with R-ASD, and without concurrent evidence for an epileptic encephalopathy such as the Landau-Kleffner syndrome, who receive steroid therapy, show improvement in a language specific electrophysiological brain function indicator, as measured with the FMAER. Additionally, they appear to show improvement in language and behavior performance. At the level utilized in this study, steroid therapy did not appear to result in recognized, lasting morbidities.
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Among children born in Sweden, the individual risk of ASD and autistic disorder increased with increasing genetic relatedness. Heritability of ASD and autistic disorder were estimated to be approximately 50%. These findings may inform the counseling of families with affected children.
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“Autism spectrum disorder (ASD) is a developmental disorder defined by behavioral symptoms that emerge during the first years of life. Associated with these symptoms are differences in the structure of a wide array of brain regions, and in the connectivity between these regions. However, the use of cohorts with large age variability and participants past the generally recognized age of onset of the defining behaviors means that many of the reported abnormalities may be a result of cascade effects of developmentally earlier deviations. This study assessed differences in connectivity in ASD at the age at which the defining behaviors first become clear. There were 113 24-month-old participants at high risk for ASD, 31 of whom were classified as ASD, and 23 typically developing 24-month-old participants at low risk for ASD. Utilizing diffusion data to obtain measures of the length and strength of connections between anatomical regions, we performed an analysis of network efficiency. Our results showed significantly decreased local and global efficiency over temporal, parietal and occipital lobes in high-risk infants classified as ASD, relative to both low- and high-risk infants not classified as ASD. The frontal lobes showed only a reduction in global efficiency in Broca’s area. In addition, these same regions showed an inverse relation between efficiency and symptom severity across the high-risk infants. The results suggest delay or deficits in infants with ASD in the optimization of both local and global aspects of network structure in regions involved in processing auditory and visual stimuli, language and nonlinguistic social stimuli.”
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Two autism-related disorders fragile X syndrome and tuberous sclerosis complex share disruptions in the immune system despite major differences in the individual genes affected, reports a study in Molecular Autism. An abnormally regulated immune system is linked to some forms of autism, but exactly how genetic changes in the immune system contribute to autism is unclear.
A small study published 3 April in Molecular Autism found that 98 percent of mothers of children with autism have unusual responses to sensory stimuli, including light, sound and touch. Up to 90 percent of children with autism show sensory problems, fixating on or avoiding certain smells, sounds or textures. As a result, the newest edition of the Diagnostic and Statistical Manual of Mental Disorders lists abnormal sensitivity in one or more of the five senses as a core diagnostic feature of autism. Its unclear whether genetics contributes to these sensory patterns, but a larger study examining the relationship between unusual sensory response, autism traits and additional disorders in family members may clarify the link.
The 2013 Strategic Plan Update provides an accounting and overview of the funding and scientific progress in the autism field since the release of the first IACC Strategic Plan in 2009. The 2013 Update describes recent advances in the scientific understanding of ASD, provides information on the progress of each of the 78 IACC Strategic Plan objectives, highlights areas of need and opportunity, and identifies overarching themes that will be important for future advancement of ASD research. In this final version, you will find a single, streamlined table for each Strategic Plan Question that displays both cumulative 5-year funding and notes regarding progress of each objective, which we thought would be helpful to readers.
This project begins a conversation concerning what we know and what we need to learn about autism and related developmental disorders. SFARIs chief scientist, Gerald Fischbach, wrote the original draft, with the intent of providing an outline of recent research advances and suggestions about next steps. The document incorporates several different methodologies, ranging from molecular biology to behavior, in hopes of building bridges between them. We hope it will serve as a valuable resource for experts in autism research and also as a helpful guide for those just entering the field.Neither the claims about what we know nor the questions raised are complete lists. Autism research is advancing rapidly. In our hopes that What we know will become a living document, we invite you to suggest additions, deletions, corrections or wholesale rearrangements. Please email your comments to WWK@sfari.org. And please check back for future iterations of this document as it expands and evolves.
Adults with autism face high rates of unemployment. Supported employment enables individuals with autism to secure and maintain a paid job in a regular work environment. The objective of this study was to assess the cost-effectiveness of supported employment compared with standard care (day services) for adults with autism in the United Kingdom. Thus, a […]
Risperidone, the first drug approved for children with autism and the most widely used, improves some childrens behavior but can have severe side effects, suggests an informal analysis of the drugs use. These side effects can include weight gain, drowsiness, hormonal changes and, in rare cases, involuntary movements.
Simons Foundation Autism Research Initiative director of clinical research, Wendy Chung, addressed the TED2014 Conference in Vancouver, Canada, on March 18, delivering a speech called What We Know About Autism. The speech, geared toward a lay audience during Autism Awareness Month, is clear, informative and highly accessible, and addresses a host of current questions and concerns in the mind of the public: Is autism an epidemic? Do vaccines cause autism? What is the state of autism science? Are treatments on the horizon?What We Know About Autism ends with a call to action, urging families impacted by autism to join the Interactive Autism Network, an online community of families that provides them with current information on autism resources and scientific advances. IAN also provides families with the opportunity to contribute to research and clinical trials directed by qualified scientists.
Defense Health ProgramDepartment of Defense Autism Research ProgramFunding Opportunities for Fiscal Year 2014 (FY14) The FY14 Defense Appropriations Act provides $6 million (M) to the Department of Defense Autism Research Program (ARP) to support innovative, high-impact autism spectrum disorder research. This program is administered by the US Army Medical Research and Materiel Command (USAMRMC) through the Office of Congressionally Directed Medical Research Programs (CDMRP).
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The FDA issued a warning today that several companies are making false or misleading claims about products or therapies that claim to treat or cure autism. The so-called treatments, such as chelation therapy or mineral treatments, carry significant risks, FDA says. Please be aware of the FDA’s warning and follow their tips to help you identify false or misleading claims.
A substantial proportion of risk for developing autism spectrum disorders (ASD) resides in genes that are part of specific, interconnected biological pathways, according to researchers from the Icahn School of Medicine at Mount Sinai, who conducted a broad study of almost 2,500 families in the United States and throughout the world. The study was published in The American Journal of Human Genetics. The researchers reported numerous copy number variations (CNVS) affecting genes, and found that these genes are part of similar cellular pathways involved in brain development, synapse function and chromatin regulation. Individuals with ASD carried more of these CNVs than individuals in the control group, and some of them were inherited while others were only present in offspring with ASD.
Certain DNA repeats that increased exponentially during human evolution are directly related to the severity of autism symptoms, according to a preliminary study published in PLoS Genetics. The repeats each span 65 amino acids and are collectively referred to as DUF1220, for domain of unknown function. There are six types of these repeats, each with a slightly different sequence and all of which diverged from a common ancestor.
ASF celebrates its 5th anniversary! Watch to learn about our first five years of searching, solving, and sharing.
Atypical brain connectivity in areas that affect social interactions have been found in people with autism spectrum disorders. This difference in connectivity is found in networks of the brain that help individuals understand what others are thinking, and to understand others’ actions and emotions. Up until now, it was thought that these areas of the brain were under-connected in people with autism, but this study shows that more often than not, they are actually over-connected. The study also found that the greater the difference in neural connectivity, the more social interactions were impaired.
Request for Information (RFI): Impact of DSM-5 Changes to Diagnostic Criteria for Autism Spectrum Disorders (ASD) on Research and ServicesPublished April 14, 2014 in National Institutes of Health
The NIH is requesting additional input from the scientific community, health professionals, self-advocates and patient advocates about the research implications of recent changes to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) diagnostic criteria for Autism Spectrum Disorders (ASD). Responses will be accepted through May 12, 2014.
The CDC has released its 2014 Community Report on Autism, which gives details behind the new 1 in 68 number, as well as additional state-by-state prevalence information.
IACC Issues Statement Regarding Implications of Changes in the Diagnostic Criteria for Autism Spectrum DisorderPublished April 2, 2014 in Interagency Autism Coordinating Committee
Today, on World Autism Awareness Day 2014, the Interagency Autism Coordinating Committee (IACC), issued a statement regarding the implications of changes in the diagnostic criteria for ASD that were made in the most recent update of the Diagnostic and Statistical Manual of Mental Disorders (DSM). Of particular interest are the scientific, practice, and policy implications as DSM-5 is implemented in real-world settings, especially with respect to allocation of services.
Hilibrand Autism Symposium: Carving a Place in the World for Young Adults With Autism Spectrum DisordersPublished April 1, 2014 in Hilibrand Autism Symposium
Every adult wants to lead a meaningful life, and individuals with autism spectrum disorders (ASD) are no different. More and more, people with ASD are working, living, and engaging in their communities, and are being recognized for their strengths and talents. Yet the questions still remain: What do young adults with ASD need to transition to being productive members of society whose skills and interests are used and valued? How can professionals, parents, advocates, and others ensure that a place in the world is carved out for these individuals? This conference will present new research and innovative models to spark a dialogue about current challenges and effective solutions to helping adults with ASD obtain and maintain work, social connections, and independence.ASF Scientific Advisory Board Member David Mandell will be giving the keynote address.Tune into the Hilibrand Autism Symposium lifestream today from 9:00am to 4:30pm at http://www.ujafedny.org/autism-symposium/
When it comes to autism prevalence, it can be difficult to separate real risks from false rumors. The topics that gain the most media coverage aren’t always the ones with the greatest affect on autism risk. The risk ratio can give perspective where isolated news stories dont.
New evidence suggests that autism begins in the brain before birth when brain cells fail to develop properly. In this study, the abnormalities in the brain cells were not uniform, showing autism’s wide range of symptoms and severity. This better understanding of prenatal development of the brain cells of people with autism underscores the importance of early identification and intervention.
Researchers have developed a method to isolate a single mutant cell from thousands of others, they reported in the March issue of Nature Methods. The new approach will allow researchers to precisely engineer and study human cells without altering the genome. Ultimately, the method could be used to alter an individuals cells before returning them to his or her body.
Autism Science Foundation Issues Request for Applications: 2014 Undergraduate Summer Research GrantsPublished March 17, 2014 in Autism Science Foundation
The Autism Science Foundation invites applications from highly qualified undergraduates interested in pursuing basic and clinical research relevant to autism spectrum disorders during the summer. The proposed research must be scientifically linked to autism or a closely related field. Autism Science Foundation will consider all areas of related basic and clinical research including but not limited to: human behavior across the lifespan (language, learning, communication, social function, epilepsy, sleep, self-injurious behavior, catatonia), neurobiology (anatomy, development, neuro-imaging), pharmacology, neuropathology, human genetics, genomics, epigenetics, epigenomics, immunology, molecular and cellular mechanisms, studies employing model organisms and systems, and studies of treatment and service delivery.
Communication Interventions for Minimally Verbal Children With Autism: A Sequential Multiple Assignment Randomized TrialPublished March 13, 2014 in Child and Adolescent Psychiatry
Minimally verbal school-aged children can make significant and rapid gains in spoken spontaneous language with a novel, blended intervention that focuses on joint engagement and play skills and incorporates an SGD. Future studies should further explore the tailoring design used in this study to better understand childrens response to treatment.
Filed under: IACC Top Papers
The risk of certain autism spectrum disorders is highest in firstborn children and declines in each additional sibling born to the same mother, reports a large Finnish study published in Paediatric and Perinatal Epidemiology. When the researchers looked at Asperger syndrome, pervasive developmental disordernot otherwise specified (PDD-NOS) and childhood autism, in which symptoms appear before the age of 3, as a group, they found that a diagnosis is most common in firstborns. The latter two conditions are now considered part of the autism diagnosis. When they looked at each diagnosis separately, the researchers found that the firstborn effect holds for Asperger and PDD-NOS, while second-born children are at the highest risk for childhood autism.
Autism is defined based on a wide variety of behavioral symptoms, but it’s precisely this variation along with a complex genetic background that makes it tricky to connect behavior to the underlying genes. A new algorithm may make this challenge a bit easier to solve. The algorithm, which employs a form of artificial intelligence that learns as it goes, analyzes behavioral data and has learned to recognize six genetic disorders associated with autism, according to research published in Molecular Autism. The researchers hope to use these behavioral signatures to hone their search for the genetic underpinnings of idiopathic autism, for which there is no known cause.
Autism researchers and advocates often express concern that the average age of autism diagnosis in the U.S. hovers around 4 years even though most cases of the disorder can be reliably identified by age 2. In this highly contentious field, the need for early diagnosis and early intervention is one of the few areas of agreement. Surprisingly, though, there has been little hard evidence that earlier diagnosis improves the lives of people with autism in the long term. At last, this evidence is becoming available. The field turned toward more rigorous studies a decade or so ago, and many of those studies, focused on children between about 2 and 4 years old, are starting to bear fruit.
A Higher Mutational Burden in Females Supports a Female Protective Model in Neurodevelopmental DisordersPublished February 27, 2014 in American Journal of Human Genetics
Researchers have more clues as to why more boys than girls are diagnosed with Autism Spectrum Disorder. A new study in the American Journal of Human Genetics suggests that for boys, it takes less of a genetic hit to cause autism than it does for girls. The study continues to say that when it does appear in girls, it is due to a much more severe genetic hit, usually resulting in much more severe autism symptoms.
Even at rest, the brains of people with autism manage more information than those of their peers, according to a new study that may provide support for the so-called intense world theory of autism. The research, which was published in Frontiers in Neuroinformatics, included nine children with Asperger syndrome, aged between 6 and 14 and ten age-matched typical children. The researchers scanned their brains using magnetoencephalography (MEG), a noninvasive method that doesnt require lying in a noisy, confined space as magnetic resonance imaging does. The results suggest that in the same boring situation, people with autism process more information than their typical peers.
A rigorous new study confirms that boys with autism tend to score higher on tests of spatial and analytical abilities than on those for verbal skills. But the gap decreases by the time they reach 10 years of age. This suggests that the trait cannot be used to define children with autism or their families, the researchers say. Instead, it may be a pattern of development common in children with autism or other developmental disorders. The report was published in the January issue of the American Journal on Intellectual and Developmental Disabilities.
Neurodevelopmental disabilities, including autism, attention-deficit hyperactivity disorder, dyslexia, and other cognitive impairments, affect millions of children worldwide, and some diagnoses seem to be increasing in frequency. A new study in The Lancet states that industrial chemicals that injure the developing brain are among the known causes for this rise in prevalence. Building on a 2006 study in which researchers identified five industrial chemicals as developmental neurotoxicants (lead, methylmercury, polychlorinated biphenyls, arsenic, and toluene), epidemiological studies have documented six additional developmental neurotoxicants manganese, fluoride, chlorpyrifos, dichlorodiphenyltrichloroethane, tetrachloroethylene, and the polybrominated diphenyl ethers. To protect children from exposure to such harmful chemicals, researchers say that untested chemicals should not be presumed to be safe to brain development.
In utero exposure to the epilepsy drug valproic acid (VPA), which ups the risk of autism, may alter the composition of gut bacteria in rodents, according a study published in Brain Behavior and Immunity. Rats and mice exposed to VPA in utero have social deficits, repetitive behaviors and anxiety, making them a good model for studying autism. It is unclear exactly how VPA exposure leads to these symptoms, however.
A commercially available line of neurons generated from induced stem cells would serve as a good control for autism research, according to a study published in Psychopharmacology. Characterizing these neurons in detail shows that they express most of the genes linked to autism and look like typical, albeit immature, cells. Induced pluripotent stem cells, or iPSCs, are skin or blood cells reverted to a state from which they can become any cell in the body. Researchers can use the technique to turn cells from people with a neuropsychiatric disorder into neurons. They can then compare the neurons with those from controls to gain understanding of the disorder.
The blood pressure drug bumetanide normalizes a deficit in brain activity in two rodent models of autism, according to a study published in Science. The study hints at a mechanism underlying the drugs benefits for people with autism. Neurochlore, a company based in Marseilles, France, is testing bumetanide as a treatment for autism. In the first phase, 27 children with autism showed some improvement in their autism symptoms; the researchers are continuing the trial in Europe with more participants.
A week after announcing that the federal government will pay for tracking devices for kids with autism, officials are offering more details about how families can access the technology. All applications must go through law enforcement agencies, so organizations and schools should work with local police to put programs in place. Police departments that receive money through the federal Byrne grant will be responsible for designing and administering their local program and determining how tracking devices are distributed.
Dr. Thomas R. Insels twisted path to his role as director of the National Institute of Mental Health is a tour of where psychiatric science has been, where its going and why.
Dr. Thomas R. Insels twisted path to his role as director of the National Institute of Mental Health is a tour of where psychiatric science has been, where its going and why.
Most of the children who would lose their autism diagnosis under the diagnostic criteria released last year will fall under the new category of social (pragmatic) communication disorder (SDC), reports a large study of Korean children. The study was published last week in the American Academy of Child and Adolescent Psychiatry. SCD is a condition that includes severe social and communication deficits but lacks the repetitive behaviors and restricted interests seen in autism.
Report to Congress on Activities Related to Autism Spectrum Disorder and Other Developmental Disabilities Under the Combating Autism Act of 2006 and Combating Autism Reauthorization Act of 2011 (FY 2010 – FY 2012)Published February 1, 2014 in Department of Health and Human Services
This Report to Congress is required by Public Law 112-32, the Combating Autism Reauthorization Act of 2011. The report describes progress and expenditures made in autism spectrum disorder (ASD)- related research and services activities across the Department of Health and Human Services, the Department of Education, the Department of Defense, the Environmental Protection Agency and the National Science Foundation from fiscal years 2010- 2012.
In 2009, the Centers for Medicare & Medicaid Services (CMS) contracted with L&M Policy Research (L&M) and its partners, Truven Health Analytics (formerly the health care business of Thomson Reuters) and the National Association of State Directors of Developmental Disabilities Services, to address the growing need among federal and state policymakers and stakeholders for accurate and comprehensive information regarding available services and supports for people with ASD. The Autism Spectrum Disorders (ASD) State of the States of Services and Supports for People with ASD report stemmed from the Interagency Autism Coordinating Committee’s (IACC’s) 2010 and 2011 Strategic Plans. The overall goal of this project was to capture information about services for people with ASD across all federal and state-level agencies and offices that could serve as a useful tool and be updated on an as-needed basis. In addition, the project aimed to identify gaps in data.
Effects of a Self-Monitoring Device on Socially Relevant Behaviors in Adolescents with Asperger Disorder: A Pilot StudyPublished January 22, 2014 in Assistive Technology
This article reports the results of two case studies. Two middle school-aged participants with high-functioning autism spectrum disorders were taught to self-monitor behaviors impacting their social acceptance by peers in their general education settings: oral self-stimulatory behaviors and conversation skills. Results indicate that the intervention was effective to some degree with both participants. As a result of the self-monitoring intervention, one participant decreased self-stimulatory behaviors; however, his data were highly variable throughout the study though lower on average during intervention than in baseline. The other participant’s targeted skills in communication were only slightly improved. Self-monitoring using a vibrating reminder appears to be a low-cost intervention with high levels of social acceptability, low training requirements for teachers or students, and no social stigma.
Adults with autism usually understand in theory when and why others may feign emotions, but they dont recognize those expressions in real-life situations, reports a study published in Autism Research. This inability to guess what triggered someones subtle expression can lead to social missteps congratulating instead of consoling a disappointed friend, for example.
Like watching a foreign movie that was badly dubbed, children with autism spectrum disorders (ASD) have trouble integrating simultaneous information from their eyes and their ears, according to a Vanderbilt study. The study, led by Mark Wallace, Ph.D., director of the Vanderbilt Brain Institute, is the first to illustrate the link and strongly suggests that deficits in the sensory building blocks for language and communication can ultimately hamper social and communication skills in children with autism.
One of the frustrations that parents of children with autism most commonly voice is the long wait for a diagnosis. In the meantime, the children grow up and out of the critical period for early intervention. The scenario for adults seeking an autism diagnosis is even grimmer, as there are fewer practitioners experienced in caring for adults with autism than in caring for children with the disorder. There are few comprehensive statistics about waiting times, but the bottlenecks in access to autism diagnosis and care are widely acknowledged. These concerns are spurring the medical community to take a hard look at the failings of professional training in contributing to the problem.
The motor problems seen in Rett syndrome may be the result of deficits in a pathway that mediates reward in the striatum, a brain region that coordinates movement, according to a study published in Brain Structure and Function. Studies have shown that loss of MeCP2 in the front of the brain is sufficient to lead to Rett-like symptoms in mice. The forebrain includes the striatum, which integrates information from other brain regions to help plan and coordinate movement. The new study found that mice that model Rett syndrome have significantly less dopamine a chemical messenger that mediates reward in the striatum than controls do. The study suggests that changes in dopamine levels influence neural circuits in the striatum that regulate motor function.
Researchers have standardized labels for nearly 300 traits of autism, drawn from 24 diagnostic tests for the disorder, they reported in Neuroinformatics. They can use these terms to search for certain traits among large catalogs of the genetics and symptoms of people with autism. The new study aims to build a defined list, or ontology, of the traits these tests assess. The goal is to allow researchers to compare results across different diagnostic tests and identify the same features, regardless of the test used. The new tool can also help classify individuals with autism into subgroups, which may reflect different causes of the disorder.
Carrying a duplication of the 22q11.2 chromosomal region may protect against schizophrenia, suggests a study published 12 November in Molecular Psychiatry. This is the first evidence of a genetic region that lowers the risk of a disorder rather than increases it. Deletion of this part of chromosome 22 is the strongest known risk factor for schizophrenia, and is also linked to autism, attention deficit hyperactivity disorder and anxiety in childhood. Various other copy number variations (CNVs), or stretches of a chromosome that are deleted or duplicated multiple times in the genome, have been linked to schizophrenia, autism and other neurological conditions. The new study is the first to pinpoint a CNV that lowers the risk of a disorder, however.
Pregnant women who were diagnosed with a bacterial infection during a hospital visit were more likely to have their child be diagnosed with autism spectrum disorder, a study in the Journal of Autism and Developmental Disorders reports. “Multiple maternal infections and bacterial infections occurring during late pregnancy, particularly those diagnosed in a hospital setting, were associated with a higher risk of autism,” the researchers reported.
Next February, researchers plan to begin work on a $1.2 million project that aims to link specialized psychiatric units across the U.S. to investigate the most severe and challenging autism cases. The study will include the six largest of the nine specialized psychiatric hospital programs for autism in the U.S. About 1,000 individuals with autism, aged 4 to 20, typically spend between 20 and 25 days at a time in these programs. We think this is an area we can contribute [to], says lead investigator Matthew Siegel, medical director of the developmental disorders program of Spring Harbor Hospital in Maine. If not us, who? We have the expert clinicians and see hundreds of these kids.
Babies later diagnosed with autism tend to stare at objects after picking them up, a behavior known as sticky gaze, at much later ages than controls do, according to a study published in Behavioral Brain Research. This delay may contribute to problems with joint attention the tendency to seek out and follow others gaze in autism, the researchers say.
Microbiota Modulate Behavioral and Physiological Abnormalities Associated with Neurodevelopmental DisordersPublished December 19, 2013 in Cell
Neurodevelopmental disorders, including autism spectrum disorder (ASD), are defined by core behavioral impairments; however, subsets of individuals display a spectrum of gastrointestinal (GI) abnormalities. We demonstrate GI barrier defects and microbiota alterations in the maternal immune activation (MIA) mouse model that is known to display features of ASD. Oral treatment of MIA offspring with the human commensal Bacteroides fragilis corrects gut permeability, alters microbial composition, and ameliorates defects in communicative, stereotypic, anxiety-like and sensorimotor behaviors. MIA offspring display an altered serum metabolomic profile, and B. fragilis modulates levels of several metabolites. Treating naive mice with a metabolite that is increased by MIA and restored by B. fragilis causes certain behavioral abnormalities, suggesting that gut bacterial effects on the host metabolome impact behavior. Taken together, these findings support a gut-microbiome-brain connection in a mouse model of ASD and identify a potential probiotic therapy for GI and particular behavioral symptoms in human neurodevelopmental disorders.
Filed under: IACC Top Papers
Deficits in eye contact have been a hallmark of autism since the condition’s initial description. They are cited widely as a diagnostic feature and figure prominently in clinical instruments; however, the early onset of these deficits has not been known. Here we show in a prospective longitudinal study that infants later diagnosed with autism spectrum disorders (ASDs) exhibit mean decline in eye fixation from 2 to 6 months of age, a pattern not observed in infants who do not develop ASD. These observations mark the earliest known indicators of social disability in infancy, but also falsify a prior hypothesis: in the first months of life, this basic mechanism of social adaptive action–eye looking–is not immediately diminished in infants later diagnosed with ASD; instead, eye looking appears to begin at normative levels prior to decline. The timing of decline highlights a narrow developmental window and reveals the early derailment of processes that would otherwise have a key role in canalizing typical social development. Finally, the observation of this decline in eye fixation–rather than outright absence–offers a promising opportunity for early intervention that could build on the apparent preservation of mechanisms subserving reflexive initial orientation towards the eyes.
Filed under: IACC Top Papers
In the past, studies have raised concern about an association between the use of a certain type of antidepressant known as selective serotonin reuptake inhibitors (SSRIs) during pregnancy and an increased risk of autism spectrum disorders in the child. A new study now shows no significant association between maternal use of SSRIs during pregnancy and autism spectrum disorder in the child. However, the children were at a higher than usual risk of being diagnosed with autism if their mother had taken the drugs for depression or anxiety prior to the pregnancy, suggesting a possible link between the mother’s preexisting mental health condition and the child’s development of an ASD.
People who carry high-risk genetic variants for schizophrenia and autism have impairments reminiscent of disorders such as dyslexia, even when they do not yet have a mental illness, a new study has found. Researchers report that people with these copy number variants (CNVs) but no diagnosis of autism or a mental illness still show subtle brain changes and impairments in cognitive function. The findings offer a window into the brain changes that precede severe mental illness and hold promise for early intervention and even prevention, researchers say.
Mice with a duplication of SHANK3, a gene with strong links to autism, are hyperactive and manic, reports a study published in Nature.The mice produce about 50 percent more SHANK3 protein than their genetically typical counterparts, the scientists found, much like people with an extra copy of the gene do. The mice also show signs of hyperactivity. The team observed on further testing that the SHANK3 mice show behaviors typically seen in people going through manic episodes. The mice are easier to startle, eat more, have disrupted sleeping patterns and show heightened sensitivity to amphetamine. The mice also have spontaneous seizures.
A long-awaited study has confirmed the fears of Somali residents in Minneapolis that their children suffer from higher rates of a disabling form of autism compared with other children there. The study by the University of Minnesota, the Centers for Disease Control and Prevention, and the research and advocacy group Autism Speaks found high rates of autism in two populations: About one Somali child in 32 and one white child in 36 in Minneapolis were on the autism spectrum. But the Somali children were less likely than the whites to be high-functioning and more likely to have I.Q.s below 70. (The average I.Q. score is 100.) The study offered no explanation of the statistics.
Peer solicitation a child inviting another to play can improve reciprocal social interaction among children with autism, according to a recent Vanderbilt University study. While the children with autism in the study initiated and engaged in less play overall than typically developing children, the researchers found that other children can facilitate and increase interactions by simple requests. These findings highlight the pivotal role that peers have in social interaction, noting that it only takes a single child to prompt other children with or without autism to interact.
Researchers at Karolinska Institutet in Sweden have developed a new screening tool to facilitate the diagnosis of Autism Spectrum Disorder in adults. The test is presented in the scientific journal Molecular Autism and is unique in that researchers have, as part of their evaluation, compared the group diagnosed with Autism Spectrum Disorder with psychiatric patients. In adults, distinguishing Autism Spectrum Disorder from other psychiatric conditions can be a problem, as their symptoms often overlap or are similar to those in schizophrenia, attention deficit and hyperactivity disorder (ADHD) or severe personality disorders.
A study in Brain Research shows a difference in how auditory nerve fibers develop may explain why children with autism process sounds a fraction of a second more slowly than typically developing children do. It is known that the brains response to sound speeds up as children age. This boost in speed is known to be accompanied by the maturation of white matter the nerve fibers that connect brain regions. It was once believed that in children with autism, the white matter didn’t mature with age like it does in typically-developing children. However, it is now believed that it does mature with age in children with autism, just in a different way.
More information has come about about the gut microbes study in Cell. “I’d want to know more about the mechanism by which the bacteria altered behavior in the mice before beginning to translate the findings to humans” says Emanuel DiCicco-Bloom, a neuroscientist at Rutgers University and member of the ASF Scientific Advisory Board.
Caltech researchers gave probiotics to mice that had been bred to have autism-like symptoms and found promising results. After being given the probiotics, the mice were more communicative and less anxious. The treatment also reduced gastrointestinal problems in the animals that were similar to those that often accompany autism in humans.
Anxiety runs in families with autism, hinting that the two conditions may share a common origin, suggests a twin study published recently in the Journal of Child Psychology and Psychiatry. Compared with controls, the children who had autism or some features of the disorder experienced more of all forms of anxiety, including social anxiety and episodes of panic, according to parent surveys. They scored especially high on generalized and separation anxiety.
A new study conducted by the Yale Child Study Center shows promising results concerning the use of the hormone oxytocin. The study found that oxytocin, given as a nasal spray,enhanced brain activity while processing social information in children with autism spectrum disorders. This means brain centers associated with reward and emotion recognition responded more during social tasks when the children in the study received oxytocin.
Autism spectrum disorder is more common in males than females. An underrepresentation of females in the ASD literature has led to limited knowledge of differences in social function across the sexes. A study on face perception has shown that despite being closely matched for symptoms, IQ, and age, the girls showed more pronounced atypical brain response, which suggests they are indeed employing compensatory strategies to look as good as they do.
Scientists at Yale have identified which types of brain cells and regions of the brain are affected by genetic mutations linked to autism spectrum disorders. Researchers state that this new discovery has the potential for new types of autism treatments. We may not need to treat the whole brain, they say; only particular areas of the brain may be affected by autism at certain times.
In what are believed to be the first studies of their kind, Cedars-Sinai researchers recording the real-time firing of individual nerve cells in the brain found that a specific type of neuron in a structure called the amygdala performed differently in people who suffer from autism spectrum disorder than in those who do not. Researchers discovered that the mouth, much more than the eyes, is what people with autism focus on to decipher emotions expressed through facial expressions.
Students with autism who attend community colleges two-year local institutions tend to succeed if they study science, technology, engineering or mathematics (STEM), reports a new study published October 26 in the Journal of Autism and Developmental Disorders. Students who studied STEM subjects were less likely to drop out and were twice as likely to transfer to a four-year university than their non-STEM peers.
New research out of the University of Cambridge and published in the journal Molecular Autism found that people with autism are more likely to have synaethesia, which involves experiencing a mixing of the senses, such as seeing colors when they hear sounds. Both autism and synaesthesia involve neural over-connectivity, perhaps the reason why synaesthesia is disproportionately common in autism.
In a new study published in the Journal of the American Academy of Child and Adolescent Psychiatry, 3,666 children were assessed on their ability to correctly recognize emotions by looking at faces. Children with autistic-like social communication difficulties were compared with children without such difficulties. Autistic-like social communication difficulties were associated with poorer recognition of emotion from social motion cues in both genders, but were associated with poorer facial emotion recognition in boys only. Relatively good performance of girls on the task of facial emotion discrimination may be due to compensatory mechanisms, though more research is needed in this area.
A new imaging technique that can assemble finely detailed pictures of an individual mouses brain in less than a day is being used to explore mouse models of autism. The automated technique cuts a mouse brain into 280 thin slices, which are scanned by a powerful microscope and the resulting images are then stitched together into a three-dimensional view. The researchers used this technique to investigate the imbalance of excitatory and inhibitory signals in a mouse model of 16p11.2 deletion. People missing this chromosomal region have an increased risk for autism, and about one-quarter have epilepsy, in which an excess of excitatory signals causes seizures.
People with autism show differences from controls in the levels of microRNAs, small noncoding bits of RNA, in the social and sound-processing parts of the brain. MicroRNAs, or miRNAs, bind to messenger RNAs, which code for protein, and flag them for degradation. Each miRNA can interfere with the production of several proteins. Of the more than 5,000 miRNAs and other small noncoding RNAs that the researchers screened, they found 3 miRNAs that are dysregulated in these regions in people with autism compared with controls.
The largest genetic analysis yet conducted of people lacking a brain structure called the corpus callosum shows that the condition shares many risk factors with autism. The study was published PLoS Genetics. The corpus callosum is the thick bundle of nerve fibers that connects the two hemispheres of the brain. People lacking this structure, a condition called agenesis of the corpus callosum (AgCC), often have social impairments, and roughly one-third of adults meet diagnostic criteria for autism. Children with autism seem to have a smaller corpus callosum than controls do.
New research out of Vanderbilt Peabody College of education and human development found that using speech-generating devices, such as iPads, to encourage children ages 5 to 8 to develop speaking skills resulted in the subjects developing considerably more spoken words compared to other interventions. All of the children in the study learned new spoken words and several learned to produce short sentences as they moved through the training.
Symptoms of autism spectrum disorders may appear as early as 6 months, but parent concern, which can precipitate evaluation, often lags significantly. The presence of typical or atypical older siblings can change parents’ sensitivity to departures from typical development. This study investigated type and age of parent’s first concerns in toddlers with autism spectrum disorder, prior to diagnosis. Participants had (1) at least one older sibling with autism spectrum disorder (Sibs-ASD); (2) only typically developing older siblings (Sibs-TD), or (3) were only/oldest (No-Sibs). Specific autism spectrum disorder diagnoses and symptom severity were similar among groups. Developmentally, No-Sibs showed the largest delays, followed by Sibs-TD, followed by Sibs-ASD. Mean age of first concern was 16 months for No-Sibs, 14 months for Sibs-TD, and 10 months for Sibs-ASD. Age of first concern differed significantly by group, even after controlling for mother’s age and education. Concern about language was prevalent in all groups. Thus, the presence of an older child with typical or, especially, atypical development was associated with earlier concerns for the affected child, despite milder developmental delays. These findings underscore the importance of encouraging parents to report concerns to pediatricians, routine standardized screening for autism spectrum disorder, and the need for pediatrician vigilance, especially for only or oldest children.
Today, in a publication in Nature, scientists show that it is possible to identify markers of autism in the first 6 months of life, much before children begin to show symptoms. In this study, these markers predicted both diagnosis and level of disability 2 12 years later when the children were evaluated by expert clinicians. The scientists used eye-tracking technology to measure the way babies visually engage with others. If these results are replicated in larger samples, these procedures might in the future empower primary care physicians to screen for autism as part of routine well-baby check ups. Equal energy and resources will then have to be invested in improving access to early treatment so that children are afforded the opportunity to fulfill their full potential.
Clinicians around the world diagnose children with autism, but is autism the same disorder around the world? A team of researchers has begun testing this question by comparing children in two European countries. The American definition of autism travels well across international borders in the case of British and Finnish children, they reported in the journal Autism. However, when the researchers compared mild traits of autism collectively referred to as broad autism phenotype, or BAP those of children from Finland do not line up well with descriptions in the DSM-5. This may be because of differences in language, culture and genetics between Finland and the U.K.
The objectives of this study were to examine rates and predictors of psychotropic use and multiclass polypharmacy among commercially insured children with autism spectrum disorders. Despite minimal evidence of the effectiveness or appropriateness of multidrug treatment of ASD, psychotropic medications are commonly used, singly and in combination, for ASD and its co-occurring conditions. Our results indicate the need to develop standards of care around the prescription of psychotropic medications to children with ASD.
New research shows a genetic link between individuals with autism and family members with specific speech and language difficulties otherwise unexplained by cognitive or physical problems. Researchers discovered that genes in a small region of two chromosomes can lead to one family member developing autism and another family member only developing language impairment.
Researchers have coaxed human stem cells to develop into simplified mini-brains, with regions resembling discrete brain structures, reported in the journal Nature. A spinning culture system prods stem cells to develop into neurons in three dimensions. The culture system is a gelatinous protein-rich mixture that provides both the structural support and nutrients required for neuronal development. Already, the researchers have shown that these artificial brains may model human disorders better than real mouse brains do.
New research from the University of Utah and published in the journal Pediatrics has uncovered an association between autism spectrum disorders and a small increase in the amount of weight a mother gains during pregnancy. These findings suggest that weight gain during pregnancy is not the cause of ASD but rather may reflect an underlying process that it shares with autism spectrum disorders, such as abnormal hormone levels or inflammation.
Mutations in the autism-linked protein NHE6 may block the development of neuronal junctions by interfering with a growth factor called BDNF, according to a study published in the journal Neuron. The results suggest that drugs that enhance BDNF signaling could treat some forms of autism, the researchers say.
According to a new study in the journal Pediatrics, kids with autism are often prescribed mood altering drugs, sometimes many at one time and for extended periods of time. These drugs include antipsychotics, antidepressants, and anti-anxiety medications. The study states that this practice occurs despite minimal evidence of the effectiveness or appropriateness of multidrug treatment of ASD.
Research investigating expressivity in children with autism spectrum disorder has reported flat affect or bizarre facial expressivity within this population; however, the impact expressivity may have on first impression formation has received little research input until now. A recent study published in the journal Autism suggests that typically developing children can form negative impressions of autistic children in as little as a thirty second encounter. The lead researcher on the study suggested that we need to focus on educating typically developing children to help break through the possible negative first impressions that can occur.
Filed under: featured
Phelan-McDermid syndrome (PMDS) is a complex neurodevelopmental disorder characterized by global developmental delay, severely impaired speech, intellectual disability, and an increased risk of autism spectrum disorders (ASDs). PMDS is caused by heterozygous deletions of chromosome 22q13.3. Among the genes in the deleted region is SHANK3, which encodes a protein in the postsynaptic density (PSD). Rare mutations in SHANK3 have been associated with idiopathic ASDs, non-syndromic intellectual disability, and schizophrenia. Although SHANK3 is considered to be the most likely candidate gene for the neurological abnormalities in PMDS patients, the cellular and molecular phenotypes associated with this syndrome in human neurons are unknown. We generated induced pluripotent stem (iPS) cells from individuals with PMDS and autism and used them to produce functional neurons. We show that PMDS neurons have reduced SHANK3 expression and major defects in excitatory, but not inhibitory, synaptic transmission. Excitatory synaptic transmission in PMDS neurons can be corrected by restoring SHANK3 expression or by treating neurons with insulin-like growth factor 1 (IGF1). IGF1 treatment promotes formation of mature excitatory synapses that lack SHANK3 but contain PSD95 and N-methyl-D-aspartate (NMDA) receptors with fast deactivation kinetics. Our findings provide direct evidence for a disruption in the ratio of cellular excitation and inhibition in PMDS neurons, and point to a molecular pathway that can be recruited to restore it.
Filed under: IACC Top Papers
Researchers have developed software that can automatically track and catalog the behavior of up to four mice at once. Mice are often used for autism research because they are easy to manipulate genetically. This new method, which involves using images taken by a heat-sensing camera and a new software algorithm, makes collecting research more efficient.
Autism rates in the United Kingdom appear to have leveled off between the years 2000 and 2010 after a five-fold rate increase in the 1990s. The report, published in the journal BMJ Open, does not have any conclusive answers as to why there was such a dramatic increase in autism diagnosis in the 1990s, but it does state that any link between autism and vaccines has been ruled out. This BMJ Open report is being compared to a report released by the CDC last year that found rates of autism diagnosis in the United States increased 78 percent between 2004 and 2008.
Babies born to women with gestational diabetes tend to be large and go through spells of low blood sugar within their first few days of life. They may also be at an increased risk for autism, reports a study published in the Journal of Autism and Developmental Disorders. The study also found that the risk extends to children born to women who had diabetes prior to pregnancy.
About one-third of people with autism suffer from epilepsy. This overlap suggests that the two disorders may have a common origin a theory borne out by examples of shared genetics. Mutations in GABRB3, a brain receptor linked to autism, are prevalent in severe childhood epilepsy, according to a study published in Nature. The study also found that many of the spontaneous mutations found in children with epilepsy overlap with those linked to autism and fragile X syndrome.
Researchers have optimized the production from stem cells of large numbers of a subtype of neurons involved in cognitive function. These neurons express the chemical messenger glutamate and are implicated in cognitive disorders such as autism. This technique, published in Translational Psychiatry, could generate enough neurons for large-scale screening of drugs.
Research published in the American Journal of Human Genetics found that people with ASDs often have just one copy of certain genes, when typically-developing people have two. This “mis-wiring” could alter the activity of nerve cells in the brain. The study found that the most commonly missing genes were linked to autophagy – a kind of waste-disposal and renewal process for cells. This study was led by Dr. Joseph Buxbaum, who is on ASF’s Scientific Advisory Board.
Some children with autism show unique patterns of brain activation while solving math problems, particularly in a brain region normally used for face processing, suggests a study in Biological Psychiatry. They also seem to use more sophisticated mental strategies to solve these problems than do their typically developing peers, the researchers found.
Researchers have developed a new test that reveals complex repetitive behaviors in BTBR mice, a mouse strain with features resembling those of autism, according to a study published in the Journal of Neuroscience Methods. Repetitive behavior is common in autism, and usually comes in two forms: repetitive actions, such as hand flapping or rocking, and higher-order symptoms, such as an insistence on sameness, or restricted interests. This second form is difficult to produce in mice, but these researchers believe they have been able to do it.
Siblings of children with autism who are later diagnosed with the disorder themselves become more active, less adaptable and less likely to approach others over time, according to a study published in the Journal of Autism and Developmental Disorders. The results reinforce the observation that autism symptoms evolve as children age, the researchers say.
New research from the CDC and published in the journal Developmental Medicine & Child Neurology found significantly high rates of autism among children diagnosed with cerebral palsy. Of the 147,000 children studied, seven percent of the children with cerebral palsy were also diagnosed with autism, compared to a little greater than one percent of kids who have autism in the general population.
Parents of adult children with autism are creating job opportunities for their kids that cater to their strengths. It can be very difficult for someone with autism to find employment that is matched to his or her unique needs, but some organizations, such as Extraordinary Ventures in Chapel Hill, NC are doing just that.
A new nationwide study conducted in Sweden and published in JAMA Psychiatry found there to be no link between celiac disease and autism spectrum disorders. There was, however, some evidence that people who have been diagnosed with autism are more sensitive to gluten, even though they don’t have celiac disease. The design of the study did not allow for a conclusion that gluten sensitivity caused autism, nor vice versa.
The results of a recent study will probably come as no surprise to most parents of children with autism: children with ASDs have more sleep problems than their peers. In fact, between ages 2.5 and 11.5, kids with autism average 43 fewer minutes of sleep per night when compared to their typically-developing peers. The next step is to research how less sleep may play a part in behavior problems.
“In the Driver’s Seat”: Parent Perceptions of Choice in a Participant-Directed Medicaid Waiver Program for Young Children with AutismPublished September 22, 2013 in Journal of Autism and Developmental Disorders
This study investigated families’ experience of choice within a participant-directed Medicaid waiver program for young children with autism. Fourteen parents or grandparents participated in in-depth interviews about their experience of choosing personnel, directing in-home services, and managing the $25,000 annual allocation. Key findings included families’ preference to hire providers with whom they have a prior relationship, parent empowerment and differences of opinion about parents as teachers. Professionals implementing participant directed service models could benefit from understanding the strong value parents’ placed on the personalities and interpersonal skills of providers. Parents’ descriptions of directing rather than merely accepting autism services revealed increased confidence in their ability to choose and manage the multiple components of their children’s HCBS autism waiver program.
The most popular drugs prescribed for autism in some countries often have serious side effects or have not been vetted in robust clinical trials, finds a survey published in the journal Psychopharmacology. Additionally, children with ASDs take more drugs than adults with ASDs. ADHD in children with autism may play a factor in this.
A study by researchers with the UC Davis MIND Institute studied children with chromosome 22q11.2 deletion syndrome, who as a group have a prevalence of autism between 20 and 50 percent according to parent reports. This study found that these children may be getting misdiagnosed because the symptoms of the chromosome 22q11.2 deletion syndrome, including social impairments, are very similar to symptoms of autism.
A new study finds that people with autism often miss facial cues that lead other people to “catch” yawns. Because individuals with autism often avoid looking at other people’s faces, they may not pick up on the cues, such as closed eyes, that would encourage them to yawn. However, when asked to look at someone’s face as they yawn, people with autism do yawn just as often as people without autism.
In a study recently published in the journal Nature, researchers discovered that autism genes are three to four times longer than the average gene expressed in neurons. According to the study, most mutations found in long genes tend to be discounted due to the fact that long genes generally have a higher probability of having a mutation, but the study says researchers think mutations in long genes should be looked at more carefully from now on.
About.com writer Lisa Jo Rudy profiles The Autism Science Foundation in her quest to help readers decipher who’s who in the autism world.
According to a recent study in the journal Intellectual and Developmental Disabilities, most people who work with special-needs children lack basic knowledge about Fragile X syndrome, even though it is the leading cause of inherited intellectual disability. Most people studied did not know many of the symptoms of the syndrome or how best to support children with Fragile X syndrome.
A research group exploring the hypothesis that certain maternal antibodies can impair fetal brains has partnered with a company to develop a test for predicting whether a woman will have a child with autism. The antibodies, they claim, could account for up to a quarter of all autism cases. But other autism scientists are skeptical that the evidence is strong enough to make such a claim, or to consider an autism test based on the antibodies.
ASF Blog Post: ASF Encourages American Academy of Pediatrics to Increase Resources for Wandering PreventionPublished September 11, 2013 in Autism Science Foundation Blog
ASF President Alison Singer writes about meeting with leaders at the American Academy of Pediatrics to encourage them to devote more resources to the prevention of wandering and about why wandering is such an important issue.
Filed under: featured
In the brain, oxytocin and serotonin work together to make social interactions pleasurable, rewarding, and worth repeating. A new study in the journal Nature shows that in individuals with autism, these rewarding functions may not be occurring properly, making social interaction uncomfortable.
Due to the fact that many people with autism spectrum disorders have difficulty holding eye contact during face to face interaction, these people can miss out on important non-verbal cues during this interaction. The study also found that most people, whether typically- or non-typically developing, have difficulty holding eye contact when thinking, such as if asked to answer a challenging math problem.
Topoisomerases are expressed throughout the developing and adult brain and are mutated in some individuals with autism spectrum disorder (ASD). However, how topoisomerases are mechanistically connected to ASD is unknown. Here we find that topotecan, a topoisomerase 1 (TOP1) inhibitor, dose-dependently reduces the expression of extremely long genes in mouse and human neurons, including nearly all genes that are longer than 200?kilobases. Expression of long genes is also reduced after knockdown of Top1 or Top2b in neurons, highlighting that both enzymes are required for full expression of long genes. By mapping RNA polymerase II density genome-wide in neurons, we found that this length-dependent effect on gene expression was due to impaired transcription elongation. Interestingly, many high-confidence ASD candidate genes are exceptionally long and were reduced in expression after TOP1 inhibition. Our findings suggest that chemicals and genetic mutations that impair topoisomerases could commonly contribute to ASD and other neurodevelopmental disorders.
Filed under: IACC Top Papers
A study in the Journal of the American Academy of Child and Adolescent Psychiatry notes that young adults with autism spectrum disorders are experiencing particular difficulty in successfully transitioning into employment. Approximately one half of young adults with an ASD have worked for pay outside the home in the first eight years following high school. The study concludes that further research is needed to determine strategies for improving outcomes as these young adults transition into adulthood.
New synthetic biology tools have allowed for great advances in genetic testing of many mutations. This technology known as CRISPR (clustered regularly interspaced short palindromic repeats) allows researchers to create molecular scissors that cut and paste essentially any mutation into the genome of any cell, including a human stem cell.
SFARI’s annual RFA will provide funding for investigators conducting bold, creative and rigorous research into the underlying biology, causes and treatment of autism spectrum disorders. SFARI will consider proposals in diverse areas, including genetics, molecular mechanisms, circuits, anatomy, sensory perception, cognition, behavior, translation and therapeutics.
Autism spectrum disorders (ASD) are increasingly common neurodevelopmental disorders defined clinically by a triad of features including impairment in social interaction, impairment in communication in social situations and restricted and repetitive patterns of behavior and interests, with considerable phenotypic heterogeneity among individuals. Although heritability estimates for ASD are high, conventional genetic-based efforts to identify genes involved in ASD have yielded only few reproducible candidate genes that account for only a small proportion of ASDs. There is mounting evidence to suggest environmental and epigenetic factors play a stronger role in the etiology of ASD than previously thought. To begin to understand the contribution of epigenetics to ASD, we have examined DNA methylation (DNAm) in a pilot study of postmortem brain tissue from 19 autism cases and 21 unrelated controls, among three brain regions including dorsolateral prefrontal cortex, temporal cortex and cerebellum. We measured over 485?000 CpG loci across a diverse set of functionally relevant genomic regions using the Infinium HumanMethylation450 BeadChip and identified four genome-wide significant differentially methylated regions (DMRs) using a bump hunting approach and a permutation-based multiple testing correction method. We replicated 3/4 DMRs identified in our genome-wide screen in a different set of samples and across different brain regions. The DMRs identified in this study represent suggestive evidence for commonly altered methylation sites in ASD and provide several promising new candidate genes.
Filed under: IACC Top Papers
About one fourth of people with autism are minimally verbal or nonverbal. Early intervention programs have been helping children develop language skills, but researchers say that seemingly unrelated issues such as motor skills and joint attention may hold the key to communication development.
Creating neurons from stem cells in a lab dish is a popular approach for studying developmental disorders such as autism. For this, researchers begin with stem cells, either taken from postmortem fetal brains or reprogrammed from other cells. They then chemically coax them into becoming neurons. Two new studies suggest that neurons made from stem cells recapitulate the early stages of development, making them good models for disorders such as autism. However, the neurons never fully reach the maturity of neurons found in adult brains.
Although up to 40% of mothers of children with autism report clinically significant depressive symptoms, there has been little attention to the mental health needs of parents. Because most autism services for young children rely on active parental engagement to deliver recommended therapies, maternal functioning directly affects the intensity and quality of therapy that children with autism receive. Developing feasible and acceptable strategies to support the mental health of mothers who care for children with autism has the potential to optimize both maternal and child functioning.
Regulation of visual attention is essential to learning about one’s environment. Children with autism spectrum disorder (ASD) exhibit impairments in regulating their visual attention, but little is known about how such impairments develop over time. This prospective longitudinal study is the first to describe the development of components of visual attention, including engaging, sustaining, and disengaging attention, in infants at high-risk of developing ASD (each with an older sibling with ASD). Non-sibling controls and high-risk infant siblings were filmed at 6, 9, 12, 15, 18, 24, and 36 months of age as they engaged in play with small, easily graspable toys. Duration of time spent looking at toy targets before moving the hand toward the target and the duration of time spent looking at the target after grasp were measured. At 36 months of age, an independent, gold standard diagnostic assessment for ASD was conducted for all participants. As predicted, infant siblings subsequently diagnosed with ASD were distinguished by prolonged latency to disengage (‘sticky attention’) by 12 months of age, and continued to show this characteristic at 15, 18, and 24 months of age. The results are discussed in relation to how the development of visual attention may impact later cognitive outcomes of children diagnosed with ASD.
Long-Term Outcomes of Parent-Assisted Social Skills Intervention for High-Functioning Children with Autism Spectrum DisordersPublished August 30, 2013 in Autism
This study aims to evaluate the long-term outcome of Children’s Friendship Training, a parent-assisted social skills intervention for children. Prior research has shown Children’s Friendship Training to be superior to wait-list control with maintenance of gains at 3-month follow-up. Participants were families of children diagnosed with autism spectrum disorder who completed Children’s Friendship Training 1-5 years earlier. They were recruited through mail, phone, and email. Information collected included parent and child completed questionnaires and a phone interview. Data were collected on 24 of 52 potential participants (46%). With an average of 35-month follow-up, participants had a mean age of 12.6 years. Results indicated that participants at follow-up were invited on significantly more play dates, showed less play date conflict, improved significantly in parent-reported social skills and problem behaviors, and demonstrated marginally significant decreases in loneliness when compared to pre-Children’s Friendship Training.
A 2004 study from the Journal of Music Therapy found that music in interventions used with children and teens with ASD can improve social behaviors, increase focus and attention, increase communication attempts (vocalizations, verbalizations, gestures, and vocabulary), reduce anxiety, and improve body awareness and coordination. Read all about it in our newest blog post written by Marcela De Vivo.
Girls with autism tend to have smaller heads and bodies than their typically developing peers, whereas boys with the disorder tend to have average-sized heads and slightly larger bodies, report two recent studies. This shows another way that autism affects males and females differently.
Researchers at UNC have discovered that problems with a key group of enzymes known as topoisomerases can have profound effects on the genetic machinery behind brain development and potentially lead to autism spectrum disorder. Researchers believe this finding represents a great step forward in the search for environmental factors behind autism.
A multisensory room, known as the Snoezelen room, in an Autism Behavioral Center in St. Petersburg, FL is helping individuals with developmental disabilities by allowing them to regulate how much sensory stimulation they experience while in the room. The light up ball pit, patterns of light projected on the wall, and other forms of sensory stimulation are all controlled by a remote given to the individual. There are 1,200 rooms like this in the United States providing a calming experience for people with autism by giving them an escape from an overstimulating world.
For adolescents with autism or other developmental disorders, the transition to adulthood can be especially difficult. A large study in the U.K. is researching this transition period when this group is aging out of pediatric healthcare services and entering the adult system.
Scientists at the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai have received grants from the National Institutes of Health and the Autism Science Foundation to study Insulin-Like Growth Factor-1 (IGF-1), a promising treatment for subtypes of autism. Clinical Director at the Seaver Autism Center, Dr. Alex Kolevzon, says, “IGF-1 has the potential to be effective in treating Phelan-McDermid Syndrome and other types of autism spectrum disorder. We are very pleased that the NIH and the Autism Science Foundation have recognized this by providing us funding to continue our work in bringing this medication to our patients.
Children who have an older sibling with autism are seven times more likely than other kids to be diagnosed with autism themselves, according to a new study from Denmark. A higher-than-average risk was also detected for children who have a half-sibling with ASD, especially if the two children had the same mother.
The FDA has issued a warning against using Hyperbaric Oxygen Therapy (HBOT) in the treatment of autism. HBOT involves breathing oxygen in a pressurized chamber. This treatment has not been cleared by the FDA for the treatment of autism, though there are some places on the internet that falsely claim it has. The FDA urges people to work with their health care professional to determine their best choice for treatment.
Assessment of Global Functioning in Adolescents with ASD: Utility of the Developmental Disability-Child Global Assessment ScalePublished August 21, 2013 in Autism
Assessment of global functioning is an important consideration in treatment outcome research; yet, there is little guidance on its evidence-based assessment for children with autism spectrum disorders. This study investigated the utility and validity of clinician-rated global functioning using the Developmental Disability-Child Global Assessment Scale in a sample of higher functioning adolescents with autism spectrum disorders and comorbid anxiety disorders enrolled in a randomized controlled trial (n = 30). Pretreatment Developmental Disability-Child Global Assessment Scale scores correlated with severity of autism spectrum disorders core symptoms (r = -.388, p = .034), pragmatic communication (r = .407, p = .032), and verbal ability (r = .449, p = .013) and did not correlate with severity of anxiety symptoms or with parent-reported adaptive behavior. Change in Developmental Disability-Child Global Assessment Scale scores during treatment was associated with autism spectrum disorders symptomatic improvement (r = .414, p = .040) and with improved general communication (r = .499, p = .013). Results support the importance of assessing global functioning in addition to symptom change and treatment response in clinical trials.
Autism spectrum disorders (ASD) are characterised by problems with social interaction and communication, as well as repetitive behaviours and limited activities and interests. Selective serotonin reuptake inhibitors (SSRIs) are a class of antidepressants that are sometimes given to reduce anxiety or obsessive?compulsive behaviours. We found nine trials, involving 320 people, which evaluated four SSRIs: fluoxetine, fluvoxamine, fenfluramine and citalopram. Five studies included only children and four studies included only adults. One trial enrolled 149 children, but the other trials were much smaller. We found no trials that evaluated sertraline, paroxetine or escitalopram. There is no evidence to support the use of SSRIs to treat autism in children. There is limited evidence, which is not yet sufficiently robust, to suggest effectiveness of SSRIs in adults with autism. Treatment with an SSRI may cause side effects. Decisions about the use of SSRIs for established clinical indications that may co?occur with autism, such as obsessive?compulsive disorder and depression in adults or children, and anxiety in adults, should be made on a case?by?case basis.
Brain-Reactive IgG Correlates with Autoimmunity in Mothers of a Child with an Autism Spectrum DisorderPublished August 20, 2013 in Molecular Psychiatry
It is believed that in utero environmental factors contribute to autism spectrum disorder (ASD). The goal of this study was to demonstrate, using the largest cohort reported so far, that mothers of an ASD child have an elevated frequency of anti-brain antibodies and to assess whether brain reactivity is associated with an autoimmune diathesis of the mother. We screened plasma of 2431 mothers of an ASD child from Simon Simplex Collection and plasma of 653 unselected women of child-bearing age for anti-brain antibodies using immunohistology on mouse brain. Positive and negative plasma from mothers with an ASD child were analyzed for anti-nuclear antibodies and for autoimmune disorders. Mothers of an ASD child were four times more likely to harbor anti-brain antibodies than unselected women of child-bearing age (10.5 vs 2.6%). A second cohort from The Autism Genetic Resource Exchange with multiplex families displayed an 8.8% prevalence of anti-brain antibodies in the mothers of these families. Fifty-three percent of these mothers with anti-brain antibodies also exhibited anti-nuclear autoantibodies compared with 13.4% of mothers of an ASD child without anti-brain antibodies and 15% of control women of child-bearing age. The analysis of ASD mothers with brain-reactive antibodies also revealed an increased prevalence of autoimmune diseases, especially rheumatoid arthritis and systemic lupus erythematosus. This study provides robust evidence that brain-reactive antibodies are increased in mothers of an ASD child and may be associated with autoimmunity. The current study serves as a benchmark and justification for studying the potential pathogenicity of these antibodies on the developing brain. The detailed characterization of the specificity of these antibodies will provide practical benefits for the management and prevention of this disorder.
Filed under: IACC Top Papers
Researchers have developed a manual called, “A Guide for Emergency Department Personnel: Assessing and Treating Individuals With Autism.” Emergency rooms are often loud and chaotic; this can frighten a person with autism, further hindering his or her communication or sensory skills. This guide aims to teach emergency care givers how to best communicate with and assess autistic patients in these hectic environments.
Children with autism who are older than 13 years and have low intelligence are at the greatest risk of having epilepsy, says one of the largest epidemiological studies on the issue to date. The presence of epilepsy among the general population is around two percent; the prevalence of epilepsy among people with autism is around thirty percent. This study breaks down occurrence of epilepsy by age, with children ages 13 to 17 having the highest prevalence.
Latino children with autism are being diagnosed less often and later than non-minority children. This new study in Pediatrics shows that this may be due to a language barrier between doctors and patients, along with a lack of dissemination of culturally appropriate ASD materials to Latino families.
Children with autism and average IQs consistently demonstrated superior math skills compared with nonautistic children in the same IQ range, according to a study by researchers at the Stanford University School of Medicine and Lucile Packard Children’s Hospital.
A study from the Houston Methodist Neurological Institute and Erasmus Medical Centre discovered that mothers who do not produce enough of a thyroid hormone, thyroxine, are nearly four times more likely to have a child with autism. In the past, this hormone has been shown to be important in the migration of fetal brain cells during embryo development.
A study posted in JAMA Pediatrics shows an association with induced and augmented labor with an increased risk of autism. Researchers at Duke University Medical Center studied over 625,000 live births, of which 5,500 were documented as having autism. The study adds, While these results are interesting, further investigation is needed to differentiate among potential explanations of the association, including underlying pregnancy conditions requiring the eventual need to induce/augment, the events of labor and delivery…and the specific treatments and dosing used.”
Researchers have recently discovered that two seemingly unrelated conditions, autism and cancer, share an unexpected connection. Some people with autism have specific mutated cancer or tumor genes that scientists believe caused their autism. While this does not apply to all people with autism, just the ones with the mutated gene, it is a very illuminating discovery in the field.
A new database compiles health data from seven countries, greatly expanding sample size for epidemiological autism studies. This project, the International Collaboration for Autism Registry Epidemiology (iCARE), combines data from 80,000 individuals diagnosed with autism from the years 1967 to 2009.
Nelson Freimer and colleagues at UCLA studied a population in an isolated area of Finland where Schizophrenia is more common than in the average Finnish population. In this small group, it was discovered that the presence of a deletion on part of chromosome 22 was much more prevalent than in the rest of the population. This deleted region normally contains an enzyme, TOP3B. This lack of TOP3B is also linked to disruptions that can lead to Fragile X Syndrome, showing there may be a biological link between Fragile X and Schizophrenia. An article about this study can be found here:http://www.newscientist.com/article/dn23995-genetic-discovery-links-autism-and-schizophrenia.html#.UgJvzZJJNf2
An NYU study explored the role of oxytocin in the brain’s ability to filter wanted stimuli from unwanted stimuli. The researchers suggest that the neurohormone, oxytocin, is not only used to reduce unwanted background noise but also plays a key function in strengthening desired signals.
A new study published in JAMA Psychiatry found that men who fathered children at age 50 or older were nearly twice as likely to have a grandchild with autism compared to men who had children at a younger age. The study focused on age-related aspects and sought to control any other variables, such as socioeconomic status.
Dr. Jennifer Elder Provides Commentary on Current Research for the Gluten-Free, Casein-Free (GFCF) DietPublished August 1, 2013
Dr. Jennifer Elder provides an evidence-based discussion about the Gluten-Free, Casein-Free Diet in her guest blog post for the blog series “Comorbid Conditions with Autism”. Dr. Elder’s goal was to highlight what current research says about the GFCF diet so families can make an informed decision if it is right for them.
Dr. Susan Hyman addressed many important questions about GI problems associated with autism for our guest blog series “Comorbid Conditions with Autism”. In the post, she provided an informed update on current evidence-based research in the area of GI problems and autism.
Professor Monica Justice has written a study on a connection between cholesterol and Rett Syndrome. Statin drugs, known to lower cholesterol, were shown to increase mobility, overall health scores, and lifespan in mice with Rett Syndrome.
Play is important to children’s development, and a new study has found the types of play that appeal most to children with ASD: play that provides strong sensory feedback, cause-and-effect results, and repetitive motions. Incorporating this type of play in recreational facilities, after-school programs, and playgrounds encourages inclusion and social interaction with peers.
Dr. Peter Gerhardt of the McCarton School joined us for a live chat. He answered several questions about employment, safety and sexual education in relation to teenagers and adults with autism.
A technique borrowed from geography bolsters the idea that altered wiring of the brains gray matter plays a role in autism, according to a new report. This is the first study to examine intrinsic connectivity in the living brain.
Dr. Beth Malow of Vanderbilt University wrote a guest blog post where she discusses what we know and what we need to know about sleeping issues associated with autism.
Researchers found that individuals with autism have significantly fewer kinds of bacteria in their intestines. However, there was no relationship found between microbial diversity and severity of GI problems.
Maternal Antibodies from Mothers of Children with Autism Alter Brain Growth and Social Behavior Development in the Rhesus MonkeyPublished July 9, 2013 in Translational Psychiatry
Antibodies directed against fetal brain proteins of 37 and 73?kDa molecular weight are found in approximately 12% of mothers who have children with autism spectrum disorder (ASD), but not in mothers of typically developing children. This finding has raised the possibility that these immunoglobulin G (IgG) class antibodies cross the placenta during pregnancy and impact brain development, leading to one form of ASD.
Maternal Antibodies from Mothers of Children with Autism Alter Brain Growth and Social Behavior Development in the Rhesus MonkeyPublished July 9, 2013 in Translational Psychiatry
Antibodies directed against fetal brain proteins of 37 and 73?kDa molecular weight are found in approximately 12% of mothers who have children with autism spectrum disorder (ASD), but not in mothers of typically developing children. This finding has raised the possibility that these immunoglobulin G (IgG) class antibodies cross the placenta during pregnancy and impact brain development, leading to one form of ASD.
Maternal Antibodies from Mothers of Children with Autism alter Brain Growth and Social Behavior Development in the Rhesus MonkeyPublished July 9, 2013 in Translational Psychiatry
Antibodies directed against fetal brain proteins of 37 and 73?kDa molecular weight are found in approximately 12% of mothers who have children with autism spectrum disorder (ASD), but not in mothers of typically developing children. This finding has raised the possibility that these immunoglobulin G (IgG) class antibodies cross the placenta during pregnancy and impact brain development, leading to one form of ASD. We evaluated the pathogenic potential of these antibodies by using a nonhuman primate model. IgG was isolated from mothers of children with ASD (IgG-ASD) and of typically developing children (IgG-CON). The purified IgG was administered to two groups of female rhesus monkeys (IgG-ASD; n=8 and IgG-CON; n=8) during the first and second trimesters of pregnancy. Another control group of pregnant monkeys (n=8) was untreated. Brain and behavioral development of the offspring were assessed for 2 years. Behavioral differences were first detected when the macaque mothers responded to their IgG-ASD offspring with heightened protectiveness during early development. As they matured, IgG-ASD offspring consistently deviated from species-typical social norms by more frequently approaching familiar peers. The increased approach was not reciprocated and did not lead to sustained social interactions. Even more striking, IgG-ASD offspring displayed inappropriate approach behavior to unfamiliar peers, clearly deviating from normal macaque social behavior. Longitudinal magnetic resonance imaging analyses revealed that male IgG-ASD offspring had enlarged brain volume compared with controls. White matter volume increases appeared to be driving the brain differences in the IgG-ASD offspring and these differences were most pronounced in the frontal lobes.
Filed under: IACC
Problematic Antibodies Affecting Brain Development During Pregnancy Could Help Explain 1/4 of Cases of AutismPublished July 9, 2013 in Translational Psychiatry
Antibodies found almost exclusively in mothers with children who have autism have a certain anitbody that may be affecting brain development during pregnancy. The same study says that these antibodies could account for nearly 1/4 of all cases of autism.
Controversial Study Suggests That An Ear Muscle In Children with Autism Responds to Lower Decibel Sounds Than Typical ControlsPublished July 3, 2013 in Autism Research and Treatment
A controversial study suggests that an ear muscle in children with autism responds to sounds that are a few decibels lower compared to typically developing children. Some researchers suggest this could be used as a simple clinical biomarker for autism but some scientists disagree.
This study found that most in vitro fertilization (IVF) procedures do not show an increase in the risk of autism. However, it found a small increase in the risk of autism in the most severe forms of male infertility that require surgical sperm retrieval.
This study shows that parents who have children with ASD show significantly higher levels of fatigue when compared to mothers of typically developing children. The study argues the need for interventions that specifically target maternal fatigue.
Comparative Efficacy of LEAP, TEACCH and Non-Model-Specific Special Education Programs for Preschoolers with Autism Spectrum DisordersPublished June 28, 2013 in Journal of Autism and Developmental Disorders
LEAP and TEACCH represent two comprehensive treatment models (CTMs) that have been widely used across several decades to educate young children with autism spectrum disorders. The purpose of this quasi-experimental study was to compare high fidelity LEAP (n = 22) and TEACCH (n = 25) classrooms to each other and a control condition (n = 28), in which teachers in high quality special education programs used non-model-specific practices. A total of 198 children were included in data analysis. Across conditions, children’s performances improved over time. This study raises issues of the replication of effects for CTMs, and whether having access to a high quality special education program is as beneficial as access to a specific CTM.
A UNC comparative efficacy study that compared the LEAP, TEACCH and Non-Model-Specific Special Education Programs found that young children who receive high-quality early intervention benefit developmentally regardless of the treatment model used.
During a brain study, researchers found that individuals with autism have specific areas of hyperconnectivity in the brain. This supports the theory that unique autistic behaviors stem from differences in brain wiring.
A small study sampling 52 patients with autism found that eye problems, such as crossed eyes and lazy eyes, are common in children with autism.
Scientists have found a new way to light up living cells for research. Using fluorescent proteins, scientists can reveal connections between neurons in the brain.
Scientists create an accessible database of more than 1,000 brain scans of people with autism and controls. The database, called the Autism Brain Imaging Data Exchange (ABIDE), will help scientists share brain imaging data.
A subset of children with autism displays increased immune reactivity to gluten, the mechanism of which appears to be distinct from that in celiac disease. The increased anti-gliadin antibody response and its association with GI symptoms points to a potential mechanism involving immunologic and/or intestinal permeability abnormalities in affected children.
Study finds correlation that suggests that women who are exposed to high levels of air pollution during pregnancy have a higher chance of having a child with autism.
This Stanford study identifies an underconnectivity between the voice-selective cortex and the reward centers in the brain. This could suggest why children with autism have trouble grasping the social and emotional aspects of human speech.
Researchers from Massachusetts General Hospital for Children in Boston found that minority children are significantly less likely to use specialty care for complications with the disorder when compared to kids from white families. The most significant difference was for GI and nutrition services.
Two collaborative papers reveal the key steps of how mutations to the MeCP2 gene cause Rett Syndrome by impairing the interaction between MeCP2 and the NCoR/SMRT co-repressor.
Majority of Individuals with SHANK3 Gene Problems Have Both Autism and Severe Intellectual DisabilityPublished June 11, 2013 in Molecular Autism
Prospective study of 22q13 deletion syndrome and SHANK3 deficiency shows that the majority of individuals with a SHANK3 deficiency show both signs of autism and severe intellectual disability.
ASF Scientific Advisory Board Member, Joe Buxbaum, directed the first prospective study on the effects of Shank3 deficiency on a subtype of autism called 22q13 Deletion Syndrome, also known as Phelan-McDermid Syndrome.
A Research Strategy to Discover the Environmental Causes of Autism and Neurodevelopmental DisabilitiesPublished June 7, 2013 in Environmental Health Perspectives
To begin formulation of a systematic strategy for discovery of potentially preventable environmental causes of autism and other NDDs, the Mount Sinai Childrens Environmental Health Center convened a workshop on Exploring the Environmental Causes of Autism and Learning Disabilities. This workshop produced a series of papers by leading researchers and generated a list of 10 chemicals and mixtures widely distributed in the environment that are already suspected of causing developmental neurotoxicity.
A Cambridge study that used brain imaging samples of individuals with autism, led by Dr. Simon Baron-Cohen, found evidence that autism affects sexes differently. The study showed that women who have the condition demonstrate neuroanatomical masculinization, which suggests that women with autism have more masculine brains. Dr. Baron-Cohen argues that this study reinforces that researchers “should not blindly assume that everything found in males with autism applies to females.”News Article: http://www.cambridge-news.co.uk/Education/Universities/Autism-affects-sexes-differently-20130809000647.htm
Two Studies Isolate Specific Brain Circuits That Underlie Compulsive Behaviors Seen in Individuals with OCD and AutismPublished June 7, 2013 in Science
Two studies successfully attempted to shut down and trigger compulsive behaviors in mice by using light to target certain brain circuits. These studies helped isolate the obsessive brain circuits believed to underlie compulsive behaviors in individuals with OCD and autism. 1) http://www.ncbi.nlm.nih.gov/pubmed/237449502) http://www.ncbi.nlm.nih.gov/pubmed/23744948
A Trinity study saw improvements in multiple autistic behaviors in BTBR mice fed a ketogenic diet. The ketogenic diet provided to the mice is a strict high fat, low carbohydrate and protein diet that is commonly used to treat epilepsy.
During its study, the Kennedy Krieger Institute found that 1/3 of participants who have autism were also diagnosed with ADHD. This could suggest a genetic link between the two conditions.
Working Memory Deficits in High-functioning Adolescents with Autism Spectrum Disorders: Neuropsychological and Neuroimaging correlatePublished June 4, 2013 in Journal of Autism and Developmental Disorders
This new review of neuropsychological and functional neuroimaging studies suggests that system specific problems of spatial working memory are often seen in adolescents with ASD. Additionally, researchers found that “neuroimaging studies indicate a more global working memory processing or connectivity deficiency, rather than a focused deficit in the prefrontal cortex.”
The study found that individuals with ASD had significantly decreased metabolism of the amino acid L-Tryptophan compared to their control group and individuals with other neurodevelopmental disorders. This amino acid could be used as a potential indicator for a simple, early blood test for autism.
Researchers at UCLA observed hyperactive firing rates in the brains of FMR1 knockout mice; mice engineered to have symptoms similar to those in ASD and Fragile X syndrome.
Brain imaging study reveals individuals with autism have a ticker cortex with more folds. This suggests that differences in cognitive abilities of people with autism could be due to unique brain structures.
Seaside Therapeutics has discontinued their extension study of Arbaclofen (STX209), a drug that showed promise in treating social impairment related to Fragile X syndrome.
Researchers have demonstrated that brain responses to words in children with autism at age two may strongly predict cognitive ability, receptive language and adaptive behavior in those children at ages 4 and 6.
A new study using families from the Autism Genetic Resource Exchange (AGRE) finds that individuals with autism are 20% more likely to have copy-number variations of specific genes.
Guest blogger Marcela De Vivo shares insight on some of the difficulties immigrant families face when getting help for their child with autism in this week’s ASF blog post.
Brain Imaging Study Shows Decreased Production of Chemical Messenger GABA in Individuals with AutismPublished May 23, 2013 in Neuroimage
A new brain imaging study shows that children with autism have low levels of GABA, a chemical that keeps brain signals in check. This is the third study in two years that supports the theory of decreased production of GABA.
A new report questions the evidence for atypical early brain growth in ASD, suggesting reports of abnormal head circumference (HC) growth may be due to a systematic bias in common HC norms rather than dysregulated early brain growth in ASD. The authors encourage future studies to use comparison data from typically developing and clinical control samples and several growth norms in parallel to avoid bias.
Simons Foundation will host a live DSM-5 roundtable discussion on May 29 at 3pm ET. The panelists, Dr. Thomas Insel, Dr. Cathy Lord and Dr. Helen Tager-Flusberg, will explore the new guidelines’ impact on autism diagnosis as well as on research. Listeners will have a chance to ask the panelists questions during the discussion.
Scientists from George Washington University identified hundreds of molecular targets of the RORA gene. Of these molecular targets, 426 are linked to autism by the AutismKB database.
Effects of Increased Development in Peripheral Vision on Children with Autism’s Reduced Ability to Make Eye ContactPublished May 22, 2013 in The European Journal of Neuroscience
In this study, children with ASD showed higher activity in the periphery of their visual field as compared to children without ASD. This higher activity and dependency on their peripheral vision could be explained by reduced ability early in life to control their eye movements.
Increasing the Gut Bacteria In Mice That Lack Them Helps Increase Their Sociability with Familiar MicePublished May 21, 2013 in Molecular Psychiatry
A new study finds that increasing the gut bacteria populations in mice that lack them helps to increase their sociability. The increase in sociability is mainly limited to familiar mice but the study does show support for the theory of a connection between the gut and autism in certain cases.
Researchers at University of California Irvine conducted a randomized controlled trial of sensorimotor enrichment in young boys with ASD. Behavioral and cognitive improvements in the children who received sensorimotor therapy suggest that it may be a promising treatment for ASD symptoms. The group is now conducting a larger trial that includes girls.
Ad Campaign Uses New Approach to Promote Early Autism Recognition in African-American and Hispanic FamiliesPublished May 20, 2013 in The New York Times
With the release of the DSM-5 comes an updated definition of autism and a major change to the way it is diagnosed.
The editors of Molecular Autism, Dr. Simon Baron-Cohen and ASF SAB member Dr. Joe Buxbaum, invited the labs of Dr. Cathy Lord and Dr. Fred Volkmar to offer their perspectives on the new DSM-5 criteria for the autism spectrum.Read Dr. Lord’s commentary here: http://www.molecularautism.com/content/pdf/2040-2392-4-12.pdfRead Dr. Volkmar’s commentary here: http://www.molecularautism.com/content/pdf/2040-2392-4-13.pdf
A study in the Journal of the American Academy of Child and Adolescent Psychiatry analyzes the changes made to the DSM-5 in regards to autism symptom structure in toddlers with ASD. The DSM-5 model was found to be a superior fit to the data than other models used during toddler assessment.
The Autism Matters podcast series aims to showcase the latest research published in the journal Autism in a way that is accessible, easy to understand and has real world relevance. The podcasts are aimed at a broad audience, including academics, researchers, students, clinicians, journalists, policy makers, individuals with autism and their families, and anyone interested in autism spectrum disorders.
ASF President Alison Singer is featured in this article on how parent advocates help advance autism research.
University of Michigan study finds that a mild form of the fragile X mutation produces protein clumps that may trigger fragile X-associated tremor/ataxia.
This new study found that children with autism see simple movement twice as quickly as other children their age.
“Why do boys get diagnosed with autism four times as often as girls? New research, including some of the latest data from the International Society for Autism Research annual conference last week, addresses this question, one of the biggest mysteries in the field.”
A recent pilot study linked the JASPER intervention (Joint Attention Symbolic Play Engagement and Regulation) to core deficit improvement in minimally verbal 3 to 5 year olds with autism.
Excessive Cerebral Spinal Fluid and Enlarged Brain Size in Infants May Be a Potential Biomarker for AutismPublished April 29, 2013 in Brain: A Journal of Neurology
Researchers find that infants who later develop autism have more cerebral spinal fluid and larger brain sizes compared to typically developing infants. These differences could be a potential biomarker in infants for autism.
Cognitive Enhancement Therapy for Adults with Autism Spectrum Disorder: Results of an 18-month Feasibility StudyPublished April 26, 2013 in Journal of Autism and Developmental Disorders
New findings from a small pilot study suggest cognitive enhancement therapy is a feasible and effective intervention for cognitive impairments in verbal adults with ASD. Adult participants were highly satisfied with the therapy and treatment attendance was high, indicating their willingness to participate in and commit to an intervention that they considered useful.
In an attempt to raise awareness of the unique obstacles faced by young adults with ASD, researchers compared their social experiences with the experiences of young adults who received special education services for intellectual disability, emotional disturbance, or learning disability and found young adults with ASD experienced significantly more social isolation.
Trophoblast Inclusions Are Significantly Increased in the Placentas of Children in Families at Risk for AutismPublished April 25, 2013 in Biological Psychiatry
Researchers at the Yale School of Medicine have figured out how to measure an infant’s risk of developing autism by looking for abnormalities in his/her placenta at birth, allowing for earlier diagnosis and treatment for the developmental disorder.
Methylomic Analysis of Monozygotic Twins Discordant for Autism Spectrum Disorder and Related Behavioural TraitsPublished April 23, 2013 in Molecular Psychiatry
This study suggests environmentally driven changes to the epigenome may contribute to the development of ASD and ASD-related behaviors. The study, which involved identical twins who were discordant for ASD and related traits, is the first large-scale examination of the role of genome-wide DNA methylation in ASD.
This study suggests that the placentas from women whose fetuses are at elevated risk for autism are markedly different from control placentas. Specifically, the identification of an increase in folds in the placenta could be used to identify children at risk of being autistic.
London study finds a higher rate of gene variations in the chromosome 16 region in males with autism compared to females.
Two recent studies have linked mind-blindness to atypical patterns of brain activity in people with ASD.
Due to an unexpected conflict, Dr. Peter Gerhardt’s talk will be rescheduled for a future date. For those of you with questions for Dr. Gerhardt, feel free to still submit them at firstname.lastname@example.org and we will see that they are answered.
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Did you miss the live chat? Read the transcript here.
ASF President Alison Singer joined President Obama for the official public announcement of the BRAIN Initiative.
Bridges and Barriers to Successful Transitioning as Perceived by Adolescents and Young Adults With Asperger SyndromePublished March 28, 2013 in Journal of Pediatric Nursing
This thematic content analysis examined the expectations, and perceived facilitators of and barriers to transition to community as reported by adolescents and young adults with Asperger syndrome.
Penn State researchers link autism to increased genetic change in “hotspots”, regions of the genome that are highly susceptible to mutation.
Sleep disruption as a correlate to cognitive and adaptive behavior problems in autism spectrum disorders.Published March 25, 2013 in PubMed
Results suggested that children who slept fewer hours per night had lower overall intelligence, verbal skills, overall adaptive functioning, daily living skills, socialization skills, and motor development.
IACC News Update: IACC Recommends Public and Private Health Coverage for Early Behavioral Intervention for Children with ASDPublished March 25, 2013 in IACC
This special report from the Simons Foundation looks at neural connectivity theories of autism.
Recently published in JAMA Psychiatry, this study put forth a new autism risk factor: advanced grandpaternal age. Compared to men who had children between 20 and 24, men who fathered a child at 50+ were 1-2 times more likely to have a grandchild with autism. The findings suggest some autism risk factors can accumulate over generations.
This study examined the relationship between maternal childhood abuse and autism in children in a large population-based sample. Maternal abuse was significantly associated with increased autism risk even after researchers controlled for perinatal risk factors, including gestational diabetes, smoking during pregnancy, preeclampsia, exposure to intimate partner violence and premature birth.
Changes in Prevalence of Parent-reported Autism Spectrum Disorder in School-aged U.S. Children: 2007 to 20112012Published March 20, 2013 in CDC
This report presents data on the prevalence of diagnosed autism spectrum disorder (ASD) as reported by parents of school-aged children (ages 617 years) in 20112012. Results suggest 1 in 50 U.S. children is diagnosed with ASD based on parent report.
With the number of people seeking ASD evaluations in adulthood on the rise, researchers sought to investigate how DSM-5 criteria would fare in a diagnostic clinic for adults with minimal intellectual disability. Compared to ICD-10R and DSM-IV-TR, DSM-5 specificity was good but sensitivity was poor: 44% of adults who met ICD-10R ASD criteria and 22% who met DSM-IV-TR criteria for Asperger syndrome or autistic disorder would not qualify for a DSM-5 ASD diagnosis.
A Quantitative Link between Face Discrimination Deficits and Neuronal Selectivity for Faces in AutismPublished March 15, 2013 in NeuroImage: Clinical
In this fMRI study of adults with ASD, reduced neuronal selectivity for faces was linked to greater behavioral deficits in face recognition.
A mother with two sons with autism helps advance research on neuroligin-4 mutations.
In effort to stimulate more research to better understand ASD trends, ASF President Alison Singer and other stakeholders discuss the increase in ASD prevalence and share their knowledge and opinions.
“If passed, Ava’s Law would require insurance companies to pay for “evidence-driven treatment” — or treatment that’s been scientifically shown to help kids with an autism spectrum disorder. The law would not affect the self-insured plans offered by bigger companies, which cover about 60% of insured people in the state, according to the Georgia Office of Insurance.”
This Wake Forest Study compared the gene expression of gastrointestinal tissue in individuals with autism and compared it to individuals with Crohn’s Disease, ulcerative colitis and a control group. The study showed those with autism had a unique gene expression in their gastrointestinal tissue compared to the other groups studied.
Autism researchers and advocates are concerned about changes to the recruitment strategy of the National Childrens Study, which aims to enroll 100,000 pregnant women, monitor environmental exposures, and examine gene-environment interactions in the women and their children. The changes, which include forgoing door-to-door recruitment, may limit the generalizability of the findings.
Increasing Exposure to Antibody-Stimulating Proteins and Polysaccharides in Vaccines Is Not Associated with Risk of AutismPublished March 6, 2013 in Journal of Pediatrics
This CDC study casts further doubt on the link between autism and vaccines. The study found no connection between the number of vaccines received and autism risk.
Researchers at Kennedy Krieger examined prevalence and predictors of language attainment in severely language-delayed children with ASD. 70% of the sample attained phrase speech and 47% attained fluent speech at or after age 4, indicating that later gains in language are likely in toddlers with severely delayed language. Children with high nonverbal intelligence and high levels of social interest and engagement were most likely to attain language. ASD-related features such as repetitive and sensory behaviors were not associated with language attainment.
In a new study looking at parents of children with ASD, researchers found that parents were less stressed and had improved marital quality with each hour of respite care received.
Is Medication Information for Children with Autism Spectrum Disorder Monitored and Coordinated Across Professionals? Findings from a Teacher SurveyPublished March 1, 2013 in School Mental Health
This study examined school-based medication monitoring in children with ASD. Researchers found that less than half of teachers of medicated students were aware that students were taking medication and no teachers were communicating with prescribing physicians about student behavior and side effects. Since monitoring medication across settings helps physicians assess drug safety and effectiveness, the authors argue for increased communication among professionals.
Metabolic imbalance associated with methylation dysregulation and oxidative damage in children with autism.Published March 1, 2013 in PubMed
Oxidative stress and abnormal DNA methylation have been implicated in the pathophysiology of autism. This investigated the dynamics of an integrated metabolic pathway essential for cellular antioxidant and methylation capacity in children with autism.
Filed under: Autism Research
Elevated Repetitive Behaviors are Associated with Lower Diurnal Salivary Cortisol Levels in Autism Spectrum DisorderPublished March 1, 2013 in Biological Psychiatry
This pilot study examined the relationship between repetitive behaviors (RBs) and cortisol, a hormone that is released in response to stress, in individuals with ASD. Multiple salivary cortisol samples were taken over three days for 21 children with ASD with high and low levels of RBs. Children in both groups showed the same pattern of cortisol change throughout the day, but the overall cortisol levels in the high RB group were significantly lower, suggesting RBs may work to soothe and decrease stress.
Children with ASD showed increased positive social behaviors in the presence of guinea pigs compared to toys in this new PLOS One study. Specifically, they showed more social approach behaviors (e.g. talking, looking at faces and making tactile contact) and positive affect (e.g. laughing and smiling), and less self-focused behaviors in the presence of animals.
Social stories, an intervention used to define a skill, concept or situation in socially appropriate terms, were used to promote self-regulation techniques in a self-contained preschool classroom. While implementation of self-regulation strategies varied among the children, all showed an increase in desired behaviors with the intervention.
This interesting preliminary study examined whether typical mice could recognize atypical social behavior in ASD mouse models. Wild-type mouse ‘judges’ preferred to be in chambers with other typical mice rather than socially atypical mice, suggesting that typical mice can distinguish mice displaying autism-like behavior from controls.
SFARI Gene is an integrated resource for the autism research community. It is a publicly available, curated, web-based, searchable database for autism research. This resource is built on information extracted from the studies on molecular genetics and biology of Autism Spectrum Disorders (ASD). The genetic information includes data from linkage and association studies, cytogenetic abnormalities, and specific mutations associated with ASD.
This study examined the hypothesis that a protective component of the female sex protects females from autistic behavioral impairment. The results indicate that greater familial risk may be associated with ASD in females, and males may require fewer familial risk factors to reach a similar impairment threshold. The authors hope the study will provide insight into the ASD sex ratio and aid future genetic research.
Read this new guest post from Theresa Waldron, author of www.healthsnark.com, on the possible link between prenatal folic acid and autism.
Oxytocin and Vasopressin in Children and Adolescents With Autism Spectrum Disorders: Sex Differences and Associations With SymptomsPublished February 14, 2013 in Autism Research and Treatment
Following positive results of treatment studies using oxytocin (OT) and evidence of genetic variations in the OT-arginine vasopressin (AVP) pathway in individuals with ASD, a new study from UC Berkeley further examines the involvement of OT and AVP in ASD. Results suggest levels of OT in individuals with ASD may not be as low as previously believed. Moreover, the researchers found significant gender differences, including higher levels of OT in girls and higher levels of AVP in boys.
Autism Spectrum Disorder Is Associated with Ventricular Enlargement in a Low Birth Weight PopulationPublished February 13, 2013 in Journal of Pediatrics
This new study in the Journal of Pediatrics links ventricular enlargement in the brains of low-birth-weight neonates to ASD.
A review of current research shows that ASD affects females less frequently than males and suggests this difference may be due to several sex-differential genetic and hormonal factors.
Stem Cell Research Focusing on Autisms Genetic Mysteries Earns $2.125 Million Grant at Robert Wood Johnson Medical SchoolPublished February 12, 2013 in Newswise
“Little is known about accessibility to health care transition (HCT) services for youth with autism spectrum disorder. This study expands our understanding by examining the receipt of HCT services in youth with ASD compared with youth with other special health care needs.”
Beyond Autism: A Baby Siblings Research Consortium Study of High-risk Children at Three Years of AgePublished February 8, 2013 in Journal of the American Academy of Child and Adolescent Psychiatry
This study is the first large-scale examination of ASD behavioral characteristics and developmental functioning in high-risk (HR), non-autistic 3-year-olds with siblings on the spectrum. 79% of HR children were either no different from low-risk children (LR; no known ASD family history) with respect to ASD behavioral severity and developmental functioning, or were developmentally on target with high levels of ASD-related behaviors. 21% of HR children with no ASD diagnosis had an “early manifestation” of a broad autism phenotype: high levels of ASD-related behaviors and/or low levels of verbal and nonverbal functioning. The authors highlight the importance of developmental surveillance and intervention for this HR subset.
Astroglial FMRP-Dependent Translational Down-regulation of mGluR5 Underlies Glutamate Transporter GLT1 Dysregulation in the Fragile X MousePublished February 7, 2013 in Human Molecular Genetics
This paper discusses the role fragile X mental retardation protein (FMRP) plays in protein expression in astrocytes, and suggests that FMRP loss in astrocytes may contribute to the development of fragile X.
The age at which a child with autism is diagnosed is related to the particular suite of behavioral symptoms he or she exhibits, according to this study led by an ASF Grantee. Certain diagnostic features, including poor nonverbal communication and repetitive behaviors, were associated with earlier identification of an autism spectrum disorder. Displaying more behavioral features was also associated with earlier diagnosis.For more information about this study, read the guest blog from the lead author here: http://autismsciencefoundation.wordpress.com/2013/04/09/identifying-asd-in-community-settings/
Researchers at Virginia Tech examine M-CHAT performance in a very low socio-economic status setting and find it lacks internal consistency across ethnic and educational groups. Caregivers who reported a low maternal educational level or with minority status were more likely to mark items suggestive of autism compared to those with higher maternal education or non-minority status
Brief Report: Is Cognitive Rehabilitation Needed in Verbal Adults with Autism? Insights from Initial Enrollment in a Trial of Cognitive Enhancement TherapyPublished February 5, 2013 in Journal of Autism and Developmental Disorders
Early results from this pilot trial of cognitive enhancement therapy (CET) indicate that despite above-average intelligence, verbal adults with ASD can have significantly impaired neurocognition and social cognition. The authors suggest CET, which is designed to remediate both social and non-social deficits through computer-based neurocognitive training, could be useful for cognitive rehabilitation in this population.
Researchers examine parent-child dyads during structured and free play and find that that joint engagement lasts longer when parents engage their child at or slightly above the child’s current level of play. Parents of children with autism often find it difficult to estimate their child’s level, which can result in parents engaging at too high of a level and shortening the interaction.
Producing words by 2 years of age strongly predicted better outcomes in this study of language acquisition and later functioning in children with ASD. The authors suggest that the “acquiring useful language by age 5” criterion for positive prognosis can be updated.
Feeding Problems and Nutrient Intake in Children with Autism Spectrum Disorders: A Meta-analysis and Comprehensive Review of the LiteraturePublished February 1, 2013 in Journal of Autism and Developmental Disorders
Children with ASD experience more feeding problems compared to their typical peers, such as unusual eating patterns, food rituals and or/refusals, but are not at a greater risk for compromised growth. Researchers attribute this finding to the fact that while children with ASD tend to consume enough food to meet their gross energy needs, their diet often suffers from nutritional deficits.
Familiarity Breeds Support: Speech-language Pathologists Perceptions of Bullying of Students with Autism Spectrum DisordersPublished January 31, 2013 in Journal of Communication Disorders
According to this study, school-based speech language pathologists may be an untapped resource in the fight against bullying of children with ASD.
Use of Complementary and Alternative Medicine in Children With Autism and Other Developmental Disabilities: Associations With Ethnicity, Child Comorbid Symptoms, and Parental StressPublished January 30, 2013 in Journal of Child Neurology
Families of children with ASD and other comorbid symptoms, including behavioral problems such as irritability and food allergies, were more likely to use complementary and alternative medicine, and they were more likely to use more types of modalities as compared to families of children with other developmental disabilities.
Not surprisingly, research shows that when the interests of adolescents with ASDs are incorporated into school activities, these students display higher levels of engagement and are more likely to initiate interactions with their typical peers.
Sleep Disruption as a Correlate to Cognitive and Adaptive Behavior Problems in Autism Spectrum DisordersPublished January 28, 2013 in October 1, 2012
This study examines the effects of sleep problems on daytime cognitive and adaptive functioning in children with ASD.
Mutations in FAN1, a gene in the 15q13.3 chromosomal region, raise the risk of neuropsychiatric disorders including autism and schizophrenia, according to a new study published in the Proceedings of the National Academy of Sciences. The 15q13.3 chromosomal region is a hotbed of tiny genetic deletions and duplications connected to disorders of brain development.
SFARI: Rare, inherited mutations contribute to a significant proportion of autism cases according to two new studies published in Neuron.
Researchers found that estimates of the number of children with ASD might be lower using the current DSM-5 criteria than using the previous criteria. This study looked at information collected by CDCs Autism and Developmental Disabilities Monitoring (ADDM) Network. This is the first population-based study in the United States to look at what effect the updated ASD criteria in the DSM-5 might have on estimates of the number of children with ASD. One of the advantages of the ADDM Network method is that it does not rely solely on the presence of an ASD diagnosis, but also includes review of records for children who have behaviors consistent with ASDs, even if they do not have a diagnosis. Because of the way the ADDM Network collects data, in the future CDC will be able to use both the previous DSM-IV-TR and the current DSM-5 criteria to estimate the number of children with ASD. CDC will also continue to evaluate the effect of using the DSM-5 on trends in how doctors and other health professionals diagnose ASD and how service providers evaluate and document symptoms as they transition to using the new criteria.
Large national birth cohort study links elevated maternal C-reactive protein (a marker of systemic inflammation) to increased autism risk.
Despite a requirement that insurers start covering behavioral health treatment for individuals and small groups, a new analysis suggests less than half of states plan to include autism therapy.
Some children diagnosed with autism may fall into distinct subgroups based on their symptoms and other diagnoses, researchers report in the January issue of Pediatrics. The three subgroups identified in the study show some overlap in symptoms, but each is characterized by a distinct set of features: seizures, general health problems such as gastrointestinal distress, and psychiatric problems. The analysis relied on the largest database yet, and looked at symptoms over time.
Childhood Immunization Schedule and Safety: Stakeholder Concerns, Scientific Evidence, and Future StudiesPublished January 16, 2013 in Institute of Medicine of the National Academies
The Institute of Medicine issues a report in response to questions about the safety of the vaccination schedule for children under age six. Thorough examination of the immunization schedule reveals no major concerns associated with adherence to recommended practices.
Decreased Spontaneous Attention to Social Scenes in 6-Month-Old Infants Later Diagnosed with Autism Spectrum DisordersPublished January 14, 2013 in Biological Psychiatry
Yale researchers used eye-tracking technology to examine social monitoring skills of infants at high and low risk for autism. Compared to infants who developed typically, six-month olds later diagnosed with ASD looked less at the social scene, which involved a woman engaged in various activities. When they did attend to the social scene, they spent less time viewing the womans face.
MEG study finds diminished long-range and local functional connectivity as individuals with ASD viewed faces. The study challenges the popular assumption that only long-range connectivity is reduced in ASD.
Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD PopulationPublished January 14, 2013 in PLOS One
Researchers discover 25 new autism-linked copy number variants.
Study Shows Children with Autism only 10 Percent More Likely to be Using Complementary and Alternative MedicinePublished January 11, 2013 in Journal of Developmental and Behavioral Pediatrics
A new study from the Journal of Developmental and Behavioral Pediatrics looked at nearly 600 children with ASD and with developmental delays. 40 percent of the children with autism in the study were using complementary and alternative medicine (CAM). While this may seem like a high percentage, it is only ten percent higher than the rate of nonautistic children in the study using CAM. The most common forms of complementary treatments reported were dietary supplements.
More military families will have access to ABA under a new government program.
Results from this preliminary study suggest that an interactive virtual reality game can improve social communication skills in teens with ASD.
Autism Genetic Testing: A Qualitative Study of Awareness, Attitudes, and Experiences among Parents of Children with Autism Spectrum Disorders.Published January 3, 2013 in Genetics in Medicine
This study provides insight into awareness, perspectives and experiences of ASD genetic testing among parents of autistic children.
Research finds that despite their frequent use, weighted vests have little effect on managing challenging behaviors in children with autism.
The Association Between Bullying and the Psychological Functioning of Children with Autism Spectrum DisordersPublished January 2, 2013 in PubMed
A new study finds that children with ASD are more likely to be bullied compared to their typical peers. Children with ASD with an additional clinical or educational disorder have an increased risk of being bullied and becoming bullies themselves.
This study analyzes the efficacy and secondary effects of the drugs, Risperidone and Aripipazole.
Anxiety, sensory over-responsivity, and gastrointestinal problems in children with autism spectrum disordersPublished January 1, 2013 in PubMed
Children with autism spectrum disorders (ASD) experience high rates of anxiety, sensory processing problems, and gastrointestinal (GI) problems; however, the associations among these symptoms in children with ASD have not been previously examined. The current study examined bivariate and multivariate relations among anxiety, sensory over-responsivity, and chronic GI problems in a sample of 2,973 children with ASD enrolled in the Autism Treatment Network (ages 2-17 years, 81.6 % male).
Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic StudyPublished January 1, 2013 in Journal of Autism and Developmental Disorders
According to this study, DSM-IV-TR criteria capture more individuals with ASD and intellectual disability than DSM III criteria. The authors examined records from a statewide epidemiological study in the 80s and found that 59% of participants who were considered not autistic in the original study likely were autistic based on current DSM criteria and clinician review methods used in CDC studies.
Anxiety, Sensory Over-responsivity, and Gastrointestinal Problems in Children with Autism Spectrum DisordersPublished January 1, 2013 in Journal of Abnormal Child Psychology
Anxiety, sensory processing problems and gastrointestinal (GI) issues occur frequently in children with ASD. This study examines the relationship between the three and finds that sensory over-responsivity and anxiety are highly associated and linked to GI problems.
This is the first randomized controlled trial demonstrating the efficacy of mindfulness-based therapy for adults with ASD. Participants who received MBT benefited from the therapy, showing less depression, anxiety and rumination, and more positive affect.
Authors of this new review on chelation treatment say, the weakness of the evidence base, the lack of a sound rationale for use of chelation as an ASD treatment, and the potential negative side effects strongly argue against the use of chelation treatment for ASD.
Emergency room visits for children with ASD are more likely to be for psychiatric reasons than visits from typically developing children. Having private insurance increases the risk of a psychiatric ER visit for children with ASD, possibly due to the exclusion of ASD as a coverable diagnosis among many private insurance plans.
An estimated 32-92% of parents use complementary/alternative treatments for their children with ASD despite the lack of scientific evidence for the efficacy of these methods. In this article, researchers issue a call for a standardized way to select and evaluate treatments. Barriers to successful treatment, including high costs, limited availability, parental compliance and poor recommendations from professionals are discussed.
The prevalence of physical aggression was 53% across a sample of nearly 1600 children and adolescents with ASD. Girls and boys were equally likely to display aggressive behaviors. The researchers suggest sleep problems, self-injury and sensory problems may increase risk for physical aggression, and argue for better identification and treatment of these conditions.
According to this recent meta-analysis of fMRI studies, autism-related changes in brain activity may continue to develop with age.
SFARI’s top ten autism research papers of 2012
Data supports associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a ?-catenin-chromatin-remodeling network to ASD etiology.
UCSD researchers suggest genes linked to autism have higher mutation rates than other genes.
The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum DisordersPublished December 20, 2012 in Neuron
Dr. Joseph Buxbaum and team discuss the current state of ASD gene discovery and the benefits of a genomic technology called high-throughput sequencing.
ASF SAB member Dr. Joe Buxbaum on his new gene discoveries using high-throughput sequencing: “By identifying the many genetic roots of this disorder, we can better understand its biology, which in turn will allow us to develop more tailored treatments for individuals. It is a transformative time for genetic research in autism.”
Telehealth interventions, the delivery of specialized services through communication technologies, may be a viable option for families of young children with ASD who have limited access to intervention services.
AAP reverses position on thimerosal, saying if it knew in 1999 what it knows now about thimerosol it would NOT have issued the statement calling for thimerosol to be removed from vaccines that resulted in panic. “Studies looking for harms from thimerosal-containing vaccine failed to find such associations. The consistent lack of evidence of any harm from thimerosal in vaccines formed the basis of the AAP’s reversal of its 1999 stance, and Cooper and Katz suggested that the academy would not have issued the original statement with that knowledge in-hand.”
Portable Intermodal Preferential Looking (IPL): Investigating Language Comprehension in Typically Developing Toddlers and Young Children with Autism.Published December 14, 2012 in PubMed
Researchers at UCONN have developed an intermodel preferential looking assessment that relies on the child’s attention, rather than verbal or gestural responses, to evaluate language comprehension.
Researchers link Fragile X syndrome protein to 93 genes that have been implicated in ASD. Lead investigator says the findings may lead to more detailed genetic tests.
Prenatal Versus Postnatal Sex Steroid Hormone Effects on Autistic Traits in Children at 18 to 24 Months of AgePublished December 11, 2012 in Molecular Autism
Cambridge researchers are investigating the link between pre- and postnatal hormone levels and autistic traits later in life.
A drug used for decades to treat high blood pressure and other conditions has shown promise in a small clinical trial for autism.
Dr. Gabriel Dichter presents a new review of fMRI research in ASD, noting common themes of atypical activation and functional connectivity in the brain.
This study looks at the incidence of autism-spectrum disorder (ASD) in children born to Scandinavian immigrants as well as the incidence of ASD in children born to native Dutch parents.
Order your free copy of Nature Outlook: Autism. Co-sponsored by ASF, the supplement includes articles on adulthood, treatment, culture, diagnosis and more.
Filed under: featured
Researchers at Boston’s Children Hospital claim a new blood test outperforms existing genetic tests for diagnosing ASD.
A new method developed in the Rutgers Sensory Motor Integration Lab may reveal the typicality of a child’s development. The technique measures slight fluctuations in body movement and compares them to motion patterns seen in typically developing individuals.
Autism Science Foundation President Alison Singer discusses DSM-V changes.
Day and nighttime excretion of 6-sulphatoxymelatonin in adolescents and young adults with autistic disorder.Published December 1, 2012 in PubMed
A deficit in melatonin production is present both at daytime and at nighttime in individuals with autism, particularly in the most severely affected individuals.
A special issue of Disease Markers offers a comprehensive review on how current genetic research can be applied to biomarker development in ASD.
Earlier this week, Rep. Darrell Issa, Chairman of the Committee on Oversight & Government Reform held a hearing on how the federal government can better respond to the dramatic rise in autism rates. Yet for all this concern, one large affected group is being routinely overlooked: the siblings.
Researchers from University of Catania discover a possible new strategy for treating Fragile X syndrome.
Researchers uncover a connection between exposure to traffic-related pollutants and autism risk. Findings suggest children living in high pollution areas are three times more likely to have autism compared to those living in low pollution areas.
Four new studies of neuroligin-1 (NLGN1), a gene linked to autism, unravel its complex role in regulating synapses, the connections between neurons.
This article reviews the current literature regarding a range of quality of life outcomes of aging adults with ASD. Studies that have addressed life expectancy, comorbid physical and mental health issues, ASD symptomatology, and social, residential, and vocational outcomes are reviewed.
Co-authored by ASF grantee Nina Leezenbaum, this study found delayed visual and oral exploration of objects in infant siblings of children with autism that were not observed in infants with no family history.
Abnormally high production of neuroligins, proteins involved in synapse formation, resulted in ASD symptoms in mice. Researchers reversed ASD symptoms by reducing neuroligin synthesis.
Sensory integration therapy is a popular ASD intervention, but this systematic review suggests scientific evidence does not support its use.
Neonatal Levels of Cytokines and Risk of Autism Spectrum Disorders: An Exploratory Register-based Historic Birth Cohort Study Utilizing the Danish Newborn Screening BiobankPublished November 15, 2012 in Journal of Neuroimmunology
“The aim of the study was to analyze cytokine profiles in neonatal dried blood samples (n-DBSS) retrieved from The Danish Newborn Screening Biobank of children developing Autism Spectrum Disorders (ASD) later in life and controls. Samples of 359 ASD cases and 741 controls were analyzed using Luminex xMAP technology and clinical data were retrieved from nationwide registers. Findings showed that children developing ASD were more likely to have decreased levels of both T helper-1(Th-1)-like cytokines (i.e. IFN-?) and Th-2like cytokines (i.e. IL-4, IL-10) which may suggest a depressed or hypoactive immune cell activity during neonatal period in ASD.”
Maternal Autism-Associated IgG Antibodies Delay Development and Produce Anxiety In A Mouse Gestational Transfer ModelPublished November 15, 2012 in Journal of Neuroimmunology
“A murine passive transfer model system was employed to ascertain the effects of gestational exposure to a single, intravenous dose of purified, brain-reactive IgG antibodies from individual mothers of children with autism (MAU) or mothers with typically developing children (MTD). Growth and behavioral outcomes in offspring were measured from postnatal days 8 to 65 in each group. Comparisons revealed alterations in early growth trajectories, significantly impaired motor and sensory development, and increased anxiety. This report demonstrates for the first time the effects of a single, low dose gestational exposure of IgG derived from individual MAU on their offspring’s physical and social development.”
De novo mutations in six genes may contribute to 1% of simplex ASD cases.
This study estimated the ASD prevalence in a psychiatric hospital and evaluated the Social Responsiveness Scale (SRS) combined with other information for differential diagnosis. Undiagnosed ASD may be common in psychiatric hospitals. The SRS, combined with other information, may discriminate well between ASD and other disorders.
This review by Catherine Lord and Rebecca Jones looks at common tools and best practices for ASD diagnosis in research settings.
Study examines potential links between maternal infections during pregnancy and autism. The chief of the CDC’s Developmental Disabilities Branch says “for now, the standard clinical recommendations for treating pregnant women suffering from fever or flu should not change as a result of [these] new preliminary findings.”
Contradicting a popular hypothesis in autism, a new study from Australia has found no connection between autism and bacteria in the gut. For the peer-reviewed article, click here: http://www.ncbi.nlm.nih.gov/pubmed/22997101
New Supplement in Pediatrics: Improving Health Care for Children and Youth With Autism and Other Neurodevelopmental DisordersPublished November 1, 2012 in Pediatrics
Access full articles on interventions, sleep and GI problems, health care coverage and more.
Science, Technology, Engineering, and Mathematics (STEM) Participation Among College Students with an Autism Spectrum DisorderPublished November 1, 2012 in Journal of Autism and Developmental Disorders
Findings suggest that students with an ASD had the highest STEM participation rates although their college enrollment rate was the third lowest among 11 disability categories and students in the general population. Educational policy implications are discussed.
Autism Interventions Supported by Moderate Evidence; Better Studies Needed to Validate EffectivenessPublished November 1, 2012 in RAND Corporation
Widely used autism interventions are supported by moderate evidence. Head-to-head trials of competing autism treatments are needed to identify which programs are superior and additional work should follow study participants long-term to further examine the effectiveness of treatments.
Sponsored in part by ASF, the new Nature Outlook supplement on autism features articles on genetics, adulthood, brain imaging, diagnosis and more.
A large, prospective study found that children with and without ASD were developmentally similar at 6 months based on clinical tests. Lead author Dr. Rebecca Landa reported, for those children who went on to develop autism, the earliest signs of atypical development were non-specific to autism, such as general communication or motor delay.
DSM-5 Field Trials in the United States and Canada, Part II: Test-Retest Reliability of Selected Categorical DiagnosesPublished October 30, 2012 in American Journal of Psychiatry
“OBJECTIVE The DSM-5 Field Trials were designed to obtain precise (standard error <0.1) estimates of the intraclass kappa as a measure of the degree to which two clinicians could independently agree on the presence or absence of selected DSM-5 diagnoses when the same patient was interviewed on separate occasions, in clinical settings, and evaluated with usual clinical interview methods.”
From Aspergers to Aspergers, how the spectrum became quite so all-inclusive.
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Neural Mechanisms of Improvements in Social Motivation After Pivotal Response Treatment: Two Case StudiesPublished October 27, 2012 in Journal of Autism and Developmental Disorders
Researchers find increased activation to social stimuli in brain regions involved in social perception in two children with ASD after pivotal response treatment (PRT).
Autism and ADHD diagnoses will no longer be mutually exclusive under proposed DSM-5 guidelines. Clinicians will be permitted to make official dual diagnoses when necessary.
A research team led by Gaia Novarino of the University of California, San Diego, has identified genetic mutations which cause a form of autism that could potentially be treated with dietary supplements.
Researchers identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability.
Scientists reveal efforts to create transgenic monkey models of autism. Compared to mice and rats, these animals are more genetically similar to humans, and display more complex social and communicative behaviors.
Evaluation of an Activities of Daily Living Scale for Adolescents and Adults with Developmental DisabilitiesPublished October 17, 2012 in Disability and Health Journal
ASF Grantee Matthew Maenner and colleagues developed the Waisman Activities of Daily Living (W-ADL) Scale to measure daily living skills of adolescents and adults with developmental disabilities. The scale is a free and efficient tool for surveys and epidemiological research.
This fMRI study on social judgment supports claims that autistic children may recognize socially inappropriate behavior but find it difficult to express why its inappropriate.
Researchers find that women and men with autism have comparable impairments in social cognitive functioning, but performance on non-social cognitive tasks depends on gender.
Unpublished data presented at the 2012 Society for Neuroscience annual meeting show at least 30 genes show altered expression in brain tissue of people with autism. The ongoing study aims to include more samples than previous postmortem studies, and includes samples lost in Harvards freezer malfunction.
Read highlights from our 2011 ASF grant outcomes report.
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Study finds that together, a large number of inherited, common genetic variations of very small effect can increase risk for autism. Suggests risk of inherited ASD is approximately 40% in simplex families and 60% in multiplex families.
Atypical Activation During the Embedded Figures Task as a Functional Magnetic Resonance Imaging Endophenotype of AutismPublished October 11, 2012 in Brain
This study uncovers a possible fMRI endophenotype of autism, showing that compared to typically developing controls with no family history of ASD, adolescents with autism and non-autistic siblings had atypical patterns of brain activation during the Embedded Figures Task.
Using Large Clinical Data Sets to Infer Pathogenicity for Rare Copy Number Variants in Autism CohortsPublished October 9, 2012 in Molecular Psychiatry
Copy number variants (CNVs) have a major role in the etiology of autism spectrum disorders (ASD), and several of these have reached statistical significance in casecontrol analyses. Nevertheless, current ASD cohorts are not large enough to detect very rare CNVs that may be causative or contributory (that is, risk alleles).
Study finds that parents who already have one child with autism spectrum disorder may delay or decline immunization for their younger children, potentially placing them at increased risk of preventable infectious diseases.
In this new review of intervention studies targeting social impairment in autism, authors encourage researchers to design new studies that: evaluate ingredients of effective interventions (e.g., required dose for therapeutic effect); include better outcome measures that can show that meaningful improvements have happened (e.g., spontaneous social initiations; sustained interactions); and include underserved and underrepresented participant groups, such as children with comorbidities, non-English speaking children, and minimally verbal children.
After many of the worlds brain samples available for autism research were lost earlier this year, a new effort is underway to increase tissue donation from those with the disorder.
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Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder.Published October 1, 2012 in PubMed
Results demonstrate a novel paradigm by which specific POPs may predispose to genetic copy number variation of 15q11-q13.
Application of DSM-5 Criteria for Autism Spectrum Disorder to Three Samples of Children with DSM-IV Diagnoses of Pervasive Developmental DisordersPublished October 1, 2012 in The American Journal of Psychiatry
“OBJECTIVE: Substantial revisions to the DSM-IV criteria for autism spectrum disorders (ASDs) have been proposed in efforts to increase diagnostic sensitivity and specificity. This study evaluated the proposed DSM-5 criteria for the single diagnostic category of autism spectrum disorder in children with DSM-IV diagnoses of pervasive developmental disorders (PDDs) and non-PDD diagnoses.CONCLUSIONS: These results suggest that most children with DSM-IV PDD diagnoses would remain eligible for an ASD diagnosis under the proposed DSM-5 criteria. Compared with the DSM-IV criteria for Asperger’s disorder and PDD-NOS, the DSM-5 ASD criteria have greater specificity, particularly when abnormalities are evident from both parents and clinical observation.”
Precursors to Social and Communication Difficulties in Infants At-Risk for Autism: Gaze Following and Attentional EngagementPublished October 1, 2012 in Journal of Autism and Developmental Disorders
“Whilst joint attention (JA) impairments in autism have been widely studied, little is known about the early development of gaze following, a precursor to establishing JA. We employed eye-tracking to record gaze following longitudinally in infants with and without a family history of autism spectrum disorder (ASD) at 7 and 13 months. No group difference was found between at-risk and low-risk infants in gaze following behaviour at either age. However, despite following gaze successfully at 13 months, at-risk infants with later emerging socio-communication difficulties (both those with ASD and atypical development at 36 months of age) allocated less attention to the congruent object compared to typically developing at-risk siblings and low-risk controls. The findings suggest that the subtle emergence of difficulties in JA in infancy may be related to ASD and other atypical outcomes.”
CDC’s October Learning Connection highlights autism and features learning products and resources for healthcare providers and caretakers.
This study suggests that non-verbal communication delays in infants with autistic siblings can predict later ASD symptoms.For a Science Daily article on this paper, click here: http://www.sciencedaily.com/releases/2012/10/121001124802.htm
ASF President Alison Singer Comments on National Funding for Autism Research in the Pittsburgh Post-GazettePublished October 1, 2012 in Pittsburgh Post-Gazette
“The universities that were on the list were worthy of being funded” said Alison Singer, president of the Autism Science Foundation, “but there are many other projects that were deserving and critically important that were not funded. The problem is, the list is just too short. With all that we’ve learned in recent years, this is the time in autism research to step on the gas, not the brake.”
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A note from the publisher…”From autism and Asperger’s syndrome through pervasive developmental disorders, this authoritative reference from the leading publisher in pediatric health care examines how autism spectrum disorders (ASDs) are defined and diagnosed and reviews the most current behavioral and developmental therapy treatments available. Through this evidence-based guide, which reflects the new diagnostic thinking from the American Psychiatric Association, parents and caregivers will learn about the symptoms and the incidence of ASDs, screening tools, the roles of complementary and alternative medicine, and what to expect as these children grow into adolescence and beyond.”
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New genetic variants that increase susceptibility to autism are emerging at a rapid pace from scans for copy number variants (CNVs) deletions or duplications of DNA segments and next-generation sequencing. Given the profusion of data, it seems timely to assess the availability and usefulness of mouse models in which to study these genetic risk factors.
Genetic tests are beginning to shed light on the causes of some autism spectrum disorders.
Announcing the Autism Brain Imaging Data Exchange, a Database of Brain Scans from Over 15 Medical and Research Institutions WorldwidePublished September 24, 2012 in Enhanced Online News
Researchers officially announce the creation of the Autism Brain Imaging Data Exchange, a database of previously collected brain scans from over 15 medical and research institutions worldwide. The founders aim to advance scientific understanding of ASD through this data sharing initiative.
This imaging study led by Carnegie Mellon researchers suggests adults with autism have unreliable neural responses when presented with basic sensory information. University says findings could bring us closer to understanding the connection between brain and behavior in autism. See the press release here: http://www.cmu.edu/news/stories/archives/2012/september/sept19_autisticneuralresponses.html
With the impending release of DSM-5, this article reviews proposed changes related to ASD diagnosis and discusses possible implications of DSM-5 changes on autism treatment and research.
Experimental Drug may Treat Social Withdrawal Symptoms in Individuals with Fragile X Syndrome, the Most Common Known Genetic Cause of Autism.Published September 19, 2012 in Science Translational Medicine
Arbaclofen, also known as STX209, shows promise in its treatment of social symptoms associated with fragile x syndrome.
Autism spectrum disorders (ASD) are a genetically and phenotypically heterogeneous group of syndromes defined by fundamental impairments in social reciprocity and language development accompanied by highly restrictive interests and/or repetitive behaviors. Recent advances in genetics, genomics, developmental neurobiology, systems biology, monogenic neurodevelopment syndromes, and induced pluripotent stem cells (iPSC) are now offering remarkable insights into their etiologies and converging to provide a clear and immediate path forward from the bench to the bedside.
A new study finds that faulty neuronal circuits in autistic brains can be corrected even after the critical window of brain development.
“The current investigation interrogated single-nucleotide polymorphisms (SNPs) of individuals with ASD from the Autism Genetic Resource Exchange (AGRE) database. SNPs were mapped to Kyoto Encyclopedia of Genes and Genomes (KEGG)-derived pathways to identify affected cellular processes and develop a diagnostic test. “
Early View (Online Version of Record published before inclusion in an issue)
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The IMFAR Scientific Program Committee invites abstract, scientific panel, educational symposium and technology demonstration submissions for review in all disciplines relevant to autism research for presentation at the 2013 IMFAR meeting in Donostia / San Sebastin, Spain being held May 2-4 2013.
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Arboclofen Has Potential to Improve Social Function and Behavior in Patients with Fragile X SyndromePublished September 9, 2012 in Science Translational Medicine
Research on animal models suggests that STX209 (arboclofen) might improve neurobehavioral function in patients affected with Fragile X Syndrome.
The MET gene is shown to be a “potent modulator of key social brain circuitry in children and adolescents.” Researchers found that effects of high MET gene expression is more pronounced in individuals with ASD.
Findings highlight how genetic stratification may reduce heterogeneity and help elucidate the biological basis of complex neuropsychiatric disorders such as ASD.
“The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project has systematically mapped regions of transcription, transcription factor association, chromatin structure and histone modification. These data enabled us to assign biochemical functions for 80% of the genome, in particular outside of the well-studied protein-coding regions. Many discovered candidate regulatory elements are physically associated with one another and with expressed genes, providing new insights into the mechanisms of gene regulation. The newly identified elements also show a statistical correspondence to sequence variants linked to human disease, and can thereby guide interpretation of this variation. Overall, the project provides new insights into the organization and regulation of our genes and genome, and is an expansive resource of functional annotations for biomedical research.”
Researchers have uncovered a rare, genetic form of autism caused by mutations that speed up the breakdown of certain amino acids.
With the latest annotation of the human genome, researchers have made new discoveries about common diseases
Researchers from the University of California at San Diego published in Science that a rare form of autism tied to seizures and mental retardation may be treatable with a simple diet change or supplement.
NIH Announces Autism ACE Center and Network grant recipients. NIH has awarded $100 million for the Autism Centers of Excellence Program. Nine grantees will receive research funding over the next five years.
Nearly half of U.S. children with an autism spectrum disorder are victims of bullying, a new study from University of California at Berkeley finds.
“Here, we evaluate the hypothesis that decreased connectivity in high-functioning adolescents with an autism spectrum disorder relative to typically developing adolescents is concentrated within domain-specific circuits that are specialized for social processing. Using a novel whole-brain connectivity approach in functional magnetic resonance imaging, we found that not only are decreases in connectivity most pronounced between regions of the social brain but also they are selective to connections between limbic-related brain regions involved in affective aspects of social processing from other parts of the social brain that support language and sensorimotor processes.”
“We have followed up a 2002 population study of autism prevalence in 15-24-year olds in the Faroe Islands. The rate of ASD grew significantly from 0.56% in 2002 to 0.94% in 2009. Although these results are within the range of typical findings from other studies, there were some interesting details. There were-in addition to 43 originally diagnosed cases in 2002-24 newly discovered cases in 2009 and nearly half of them were females. It is possible that unfamiliarity with the clinical presentation of autism in females have played a significant role in this context. There was diagnostic stability for the overall category of ASD over time in the group diagnosed in childhood (7-16) years, but considerable variability as regards diagnostic sub-groupings.”
“OBJECTIVE: Autism spectrum disorders (ASDs) are highly heritable neurodevelopmental disorders that onset clinically during the first years of life. ASD risk biomarkers expressed early in life could significantly impact diagnosis and treatment, but no transcriptome-wide biomarker classifiers derived from fresh blood samples from children with autism have yet emerged.RESULTS: Potential ASD biomarkers were discovered in one-half of the sample and used to build a classifier, with high diagnostic accuracy in the remaining half of the sample.”
Researchers discover gross motor, communication and language score differences between minority and non-minority toddlers with ASD. The authors suggest that due to cultural differences, minority parents may not seek intervention services until more significant delays are present. Methods to improve early identification in these groups are discussed.
Dr. Eric Courchesne recently published his work he previewed at this year’s IMFAR in the “Journal of the American Academy of Child & Adolescent Psychiatry.”The mRNA expression abnormalities reliably observed in peripheral blood mononuclear cells, which are safely and easily assayed in infants, offer the first potential peripheral bloodbased, early biomarker panel of risk for autism in infants and toddlers. Future work should verify these biomarkers and evaluate whether they may also serve as indirect indices of deviant molecular neural mechanisms in autism.
Read a comprehensive report on the latest in autism treatments and research. ASF president Alison Singer is quoted. Read the full article – http://autismsciencefoundation.files.wordpress.com/2012/08/an-all-out-assault-on-autism.pdf.
Early Behavioral Intervention is Associated with Normalized Brain Activity in Young Children with AutismPublished August 31, 2012 in Journal of the American Academy of Child & Adolescent Psychiatry
This randomized trial associated ESDM with normalized brain activity and behavioral improvements in young children with ASD.
Researchers found molecular basis for a cerebellar contribution to cognitive disorders such as autism.
Levels of Select PCB and PBDE Congeners in Human Postmortem Brain Reveal Possible Environmental Involvement in 15q11-q13 Duplication Autism Spectrum Disorder.Published August 29, 2012 in Environmental and Molecular Genetics
These results demonstrate a novel paradigm by which specific POPs may predispose to genetic copy number variation of 15q11-q13.
Federal health officials are warning that kids with neurologic disorders face a high risk of death if they get the flu.
Researchers at the St. Joseph’s Hospital and Medical Center of Phoenix are looking into whether anatomy of the bronchi of lower lungs airways indicates autism.
A new study from Vanderbilt and published in Pediatrics finds there’s little science to backup the efficacy of current methods used to help young adults with these neurodevelopmental disorders segue into the workforce.
“The current study investigated early temperament in 54 infants at familial high-risk of ASD and 50 controls. Parental report of temperament was assessed around 7, 14 and 24 months of age and diagnostic assessment was conducted at 3 years. The high-risk group showed reduced Surgency at 7 and 14 months and reduced Effortful Control at 14 and 24 months, compared to controls. High-risk infants later diagnosed with ASD were distinguished from controls by a temperament profile marked by increased Perceptual Sensitivity from the first year of life, and increased Negative Affect and reduced Cuddliness in the second year of life. Temperament may be an important construct for understanding the early infant development of ASD.”
The diversity in mutation rate of SNP’s is dominated by the age of the father at conception of the child. The effect is an increase of about two mutations per year.
These observations shed light on the importance of the father’s age on the risk of diseases such as schizophrenia and autism.
“A variety prenatal insults are associated with the incidence of neurodevelopmental disorders such as schizophrenia, autism and cerebral palsy. While the precise mechanisms underlying how transient gestational challenges can lead to later life dysfunctions are largely unknown, the placenta is likely to play a key role. The literal interface between maternal and fetal cells resides in the placenta, and disruptions to the maternal or intrauterine environment are necessarily conveyed to the developing embryo via the placenta. Placental cells bear the responsibility of promoting maternal tolerance of the semiallogeneic fetus and regulating selective permeability of nutrients, gases, and antibodies, while still providing physiological protection of the embryo from adversity. The placenta’s critical role in modulating immune protection and the availability of nutrients and endocrine factors to the offspring implicates its involvement in autoimmunity, growth restriction and hypoxia, all factors associated with the development of neurological complications. In this review, we summarize primary maternal-fetal interactions that occur in the placenta and describe pathways by which maternal insults can impair these processes and disrupt fetal brain development. We also review emerging evidence for placental dysfunction in the prenatal programming of neurodevelopmental disorders.”
Older men are more likely than young ones to father a child who develops autism or schizophrenia, because of random mutations that become more numerous with advancing paternal age, scientists reported on Wednesday, in the first study to quantify the effect as it builds each year. The age of mothers had no bearing on the risk for these disorders, the study found. Full article is here – http://www.autismsciencefoundation.org/sites/default/files/nature11396.pdf.
“In this review, we examine the ways in which researchers have defined successful adult outcomes for individuals with autism spectrum disorders (ASDs) from the first systematic follow-up reports to the present day. The earliest outcome studies used vague and unreliable outcome criteria, and institutionalization was a common marker of poor outcomes. In the past decade, researchers have begun to standardize the measurement of adult outcomes with specific criteria based on friendships, employment, and living arrangements. Although nearly all of these studies have agreed that the majority of adults with ASD have poor outcomes, evolving concepts of what it means to be an adult could have an impact on outcomes measured. For example, some researchers have suggested that taking into account the person-environment fit could reveal a more optimistic picture of outcomes for these adults. Suggestions for future research are discussed.”
Sutter Neuroscience Institute and CBR (Cord Blood Registry) are launching the first FDA-approved clinical trial to assess the use of a child’s own cord blood stem cells to treat select patients with autism.
We’re so proud to be a part of this statistic! According to a report released by Thomson Reuters, there was a 12-fold increase in the number of scientific journal articles focused on autism in the last 30 years.
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An expanded report released by Interagency Autism Coordinating Committee (IACC) and the Office of Autism Research Coordination (OARC) helps inform autism research strategic planning effort by assessing the institutions conducting ASD research and the funding organizations supporting the research publications, as well as the extent of collaboration between authors.
Researchers at Stanford University have found that adults with autism spectrum disorders report greater levels of negative emotion in general.
Researchers at Stanford University have found that adults with autism spectrum disorders report greater levels of negative emotion in general.
Scientists affiliated with the UC Davis MIND Institute have discovered how a defective gene causes brain changes that lead to the atypical social behavior characteristic of autism. The research offers a potential target for drugs to treat the condition.
Important work from ASF SAB Member Kevin Pelphrey of the Yale Child Study Center.
“The First Year Inventory is a parent-report measure designed to identify 12-month-old infants at risk for autism spectrum disorder. First Year Inventory taps behaviors that indicate risk in the developmental domains of sensory-regulatory and social-communication functioning. This longitudinal study is a follow-up of 699 children at 3 years of age from a community sample whose parents completed the First Year Inventory when their children were 12 months old. Parents of all 699 children completed the Social Responsiveness Scale-Preschool version and the Developmental Concerns Questionnaire to determine age 3 developmental outcomes. In addition, children deemed at risk for autism spectrum disorder based on liberal cut points on the First Year Inventory, Social Responsiveness Scale-Preschool, and/or Developmental Concerns Questionnaire were invited for in-person diagnostic evaluations. We found 9 children who had a confirmed diagnosis of autism spectrum disorder from the sample of 699. Receiver operating characteristic analyses determined that a two-domain cutoff score yielded optimal classification of children: 31% of those meeting algorithm cutoffs had autism spectrum disorder and 85% had a developmental disability or concern by age 3. These results suggest that the First Year Inventory is a promising tool for identifying 12-month-old infants who are at risk for an eventual diagnosis of autism spectrum disorder.”
Children of migrant parents may be at greater risk of low-functioning autism spectrum disorder, but lower risk of high-functioning autism spectrum disorder.
Results of this study show that while children of migrant parents are at an increased risk of low-functioning autism, they are at a decreased risk for high-functioning autism. Researchers call for further research to determine if environmental factors associated with migration influence the development of autism.
How Different Are Girls and Boys Above and Below the Diagnostic Threshold for Autism Spectrum Disorders?Published August 1, 2012 in Journal of the American Academy of Child and Adolescent Psychiatry
A study finds that despite showing similar autistic traits, girls are less likely than boys to meet diagnostic criteria for ASD if no other intellectual or behavioral issues are present. The authors suggest the results might reflect biased diagnosis or better adaptation in girls.
Researchers in France found that children with autism who became pet owners after the age of 5 performed better than children without pets on two key measures of social functioning — offering comfort and offering to share. Having a pet from birth did not appear to influence the socialization behaviors, leading the researchers to conclude that the arrival of a pet when a child is old enough to recognize the addition may be critical.
“Increasing evidence highlights a role for the immune system in the pathogenesis of autism spectrum disorder (ASD), as immune dysregulation is observed in the brain, periphery, and gastrointestinal tract of ASD individuals. Furthermore, maternal infection (maternal immune activation, MIA) is a risk factor for ASD. Modeling this risk factor in mice yields offspring with the cardinal behavioral and neuropathological symptoms of human ASD.”
Scientists at MIT have found that TAOK2, a gene in the autism-associated chromosomal region, is part of a signaling pathway that builds neuronal connections during development.
Researchers at Institute of Cognitive Neuroscience at University College London are finding that some studies have suggested that people with autism have deficits in executive function, a set of complex mental processes involved in everyday life. But these results may instead reflect their difficulties imagining what other people are thinking.
According to a study published in the American Journal of Medical Genetics, Women who have a milder version of the fragile X mutation, which can lead to the full mutation in their children, have some features of autism.
Interesting article including interviews with Steve Silberman and Andrea Kuszewski about how studying autism is changing the world for everyone!
Scientists track adult regression in Phelan-McDermid Syndrome, which is one of the autism-related syndromes with an identified genetic basis.
The nematode “Caenorhabditis elegans” may serve as a useful model to study synapses, the junctions between neurons.
The influence of genetic mutations on the burden of any genetic disease can usefully be determined using family-based whole-genome or whole-exome sequencing approaches.
Scientists at the California Institute of Technology (Caltech) pioneered the study of the link between irregularities in the immune system and neurodevelopmental disorders such as autism a decade ago. Since then, studies of postmortem brains and of individuals with autism, as well as epidemiological studies, have supported the correlation between alterations in the immune system and autism spectrum disorder.
New follow-up study shows long-term language improvement for kids with autism after an intensive, targeted behavioral therapy program.
According to researchers at the University of North Carolina School of Medicine, a new parent evaluation tool may help identify children with ASDs as early as 12 months.
The Office of Autism Research Coordination (OARC) has created a web-based tool to explore research projects. It includes both government funded and non-government funding agencies (such as NIH, Simons Foundation, Autism Science Foundation, etc.). Take some time to explore this exciting new tool today!
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Study identifies Polychlorinated Biphenyl (PCB), which are widely used as dielectric and coolant fluids, as a candidate environmental risk factor for neurodevelopmental disorders, including autism.
Emory University researchers identify mutations in an autism susceptibility gene that may explain why autism spectrum disorders affect four times as many boys as girls.
“Reduced focus toward the eyes is a characteristic of atypical gaze on emotional faces in autism spectrum disorders (ASD). Along with the atypical gaze, aberrant amygdala activity during face processing compared with neurotypically developed (NT) participants has been repeatedly reported in ASD. It remains unclear whether the previously reported dysfunctional amygdalar response patterns in ASD support an active avoidance of direct eye contact or rather a lack of social attention. Using a recently introduced emotion classification task, we investigated eye movements and changes in blood oxygen level-dependent (BOLD) signal in the amygdala with a 3T MRI scanner in 16 autistic and 17 control adult human participants. By modulating the initial fixation position on faces, we investigated changes triggered by the eyes compared with the mouth. Between-group interaction effects revealed different patterns of gaze and amygdalar BOLD changes in ASD and NT: Individuals with ASD gazed more often away from than toward the eyes, compared with the NT group, which showed the reversed tendency. An interaction contrast of group and initial fixation position further yielded a significant cluster of amygdala activity. Extracted parameter estimates showed greater response to eyes fixation in ASD, whereas the NT group showed an increase for mouth fixation. The differing patterns of amygdala activity in combination with differing patterns of gaze behavior between groups triggered by direct eye contact and mouth fixation, suggest a dysfunctional profile of the amygdala in ASD involving an interplay of both eye-avoidance processing and reduced orientation.”
A Research Strategy to Discover the Environmental Causes of Autism and Neurodevelopmental DisabilitiesPublished July 2, 2012 in Environmental Health Perspectives
It is intended to focus research in environmental causation of NDDs on a short list of chemicals where concentrated study has high potential to generate actionable findings in the near future. Its ultimate purpose is to catalyze new evidence-based programs for prevention of disease in Americas children.
Researchers discuss the association between schizophrenia, bipolar disorder and ASD, and suggest the conditions share etiologic factors. Family history of schizophrenia or bipolar disorder was associated with increased ASD risk across three data sets. Individuals with schizophrenic siblings were 12 times more likely to have autism compared to those with no family history of schizophrenia.
In animal studies, we encourage more research on gene environment interactions, as well as experimental exposure to mixtures of compounds. Similarly, epidemiologic studies in humans with exceptionally high exposures can identify which pesticide classes are of greatest concern, and studies focused on gene environment are needed to determine if there are susceptible subpopulations at greater risk from pesticide exposures.
Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study.Published July 1, 2012 in PubMed
Folic acid may reduce ASD risk in those with inefficient folate metabolism. The replication of these findings and investigations of mechanisms involved are warranted.
A brain imaging study out of Boston Children’s Hospital suggests that autism and Asperger’s syndrome are biologically distinct conditions. The study analyzes the patterns of brain connectivity in children with ASD and found that children with autism might have distinct neural signaling patterns. This study follows the release of the APA’s new DSM-5 that classifies Asperger’s under an umbrella diagnosis of ASD.News Article: http://www.medicaldaily.com/aspergers-syndrome-and-autism-are-biologically-distinct-according-new-brain-study-video-249255
A Stable Pattern of EEG Spectral Coherence Distinguishes Children with Autism From Neuro-typical Controls – A Large Case Control StudyPublished June 26, 2012 in BMC Medicine
“BACKGROUND: The autism rate has recently increased to 1 in 100 children. Genetic studies demonstrate poorly understood complexity. Environmental factors apparently also play a role. Magnetic resonance imaging (MRI) studies demonstrate increased brain sizes and altered connectivity. Electroencephalogram (EEG) coherence studies confirm connectivity changes. However, genetic-, MRI- and/or EEG-based diagnostic tests are not yet available. The varied study results likely reflect methodological and population differences, small samples and, for EEG, lack of attention to group-specific artifact.RESULTS: Total sample PCA [principal components analysis] of coherence data identified 40 factors which explained 50.8% of the total population variance. For the 2- to 12-year-olds, the 40 factors showed highly significant group differences (P < 0.0001). Ten randomly generated split half replications demonstrated high-average classification success (C, 88.5%; ASD, 86.0%). Still higher success was obtained in the more restricted age sub-samples using the jackknifing technique: 2- to 4-year-olds (C, 90.6%; ASD, 98.1%); 4- to 6-year-olds (C, 90.9%; ASD 99.1%); and 6- to 12-year-olds (C, 98.7%; ASD, 93.9%). Coherence loadings demonstrated reduced short-distance and reduced, as well as increased, long-distance coherences for the ASD-groups, when compared to the controls. Average spectral loading per factor was wide (10.1 Hz)."
Researchers at Children’s Hospital Boston Identify Brain Activity Patterns Specific to Children with AutismPublished June 26, 2012 in Time
Study from Children’s Hospital Boston uses EEG to identify specific brain activity patterns in children with autism.
ASF President Alison Singer shares the importance of brain tissue donation on the SFARI blog.
ASF President Alison Singer and Scientific Advisory Board member Dr. Eric London discuss the importance of post-mortem brain tissue for advancing autism research.
Researchers at the M.I.N.D Institute found decreased levels of adhesion molecules involved in immune cell migration in children with ASD. Reduced levels were associated with increased repetitive behaviors, abnormal brain growth, and impaired cognition.
UCLA researchers compare the genes of children with autism and their typically-developing siblings to better understand the role of gene expression in the development of autism.
Researchers at MIT use zebrafish to better understand the genetics of autism.
Roche and Seaside Therapeutics have entered an alliance to develop pharmacological treatments for autism spectrum disorders and Fragile X Syndrome.
Researchers at UCLA Found that Social Skills Interventions in Teens with Autism Resulted in Significant Long-Term ImprovementsPublished June 14, 2012 in http://www.medicalnewstoday.com/releases/246528.php
Researchers at UCLA found that social skills interventions in teens with autism resulted in significant long-term improvements.
“Studies of the human microbiome have revealed that even healthy individuals differ remarkably in the microbes that occupy habitats such as the gut, skin and vagina. Much of this diversity remains unexplained, although diet, environment, host genetics and early microbial exposure have all been implicated. Accordingly, to characterize the ecology of human-associated microbial communities, the Human Microbiome Project has analysed the largest cohort and set of distinct, clinically relevant body habitats so far. We found the diversity and abundance of each habitat’s signature microbes to vary widely even among healthy subjects, with strong niche specialization both within and among individuals. The project encountered an estimated 81-99% of the genera, enzyme families and community configurations occupied by the healthy Western microbiome. Metagenomic carriage of metabolic pathways was stable among individuals despite variation in community structure, and ethnic/racial background proved to be one of the strongest associations of both pathways and microbes with clinical metadata. These results thus delineate the range of structural and functional configurations normal in the microbial communities of a healthy population, enabling future characterization of the epidemiology, ecology and translational applications of the human microbiome.”
Freezer Failure at Brain Bank Severely Damaged One-Third of Largest Collection of Autism Brain SamplesPublished June 11, 2012 in http://articles.boston.com/2012-06-11/news/32177708_1_brain-bank-autism-research-freezer
A freezer malfunction at Harvard-affiliated McLean Hospital has severely damaged one-third of the worlds largest collection of autism brain samples, potentially setting back research on the disorder by years, scientists say.
“Early identification of autism has become a national priority but, despite efforts, there are children who are being identified at a later age. In this study, children of Hispanic and African American origin, foreign-born children, and children born to foreign mothers were more likely to be diagnosed later.”
Researchers led by Dr. Ben Philpot, an ASF funded mentor, at UNC School of Medicine found that seizures in individuals with Angelman syndrome could be linked to an imbalance in brain cell activity. Angelman syndrome exhibits frequent comorbidity with autism spectrum disorders.
A new issue of the scientific journal “Autism Research” is now available online before print release.
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Biological pathways revealed by the deeper list of ASD genes should narrow the targets for therapeutic intervention.
Differences in White Matter Fiber Tract Development Present from 6 to 24 Months in Infants with Autism.Published June 1, 2012 in American Journal of Psychiatry
Research suggests that aberrant development of white matter pathways may precede the manifestation of autistic symptoms in the first year of life.
“The purpose of this study was to examine the relationship between language pathways and autism spectrum disorders (ASDs) in patients with tuberous sclerosis complex (TSC). “
New study using eye-tracking and event-related potentials from Children’s Hospital Boston found that individuals with ASD showed atypical emotional face processing and reduced brain activation in response to emotions.
Study from Vanderbilt University uses eye-tracking and visual event-related potentials to measure attention to changing facial features in infants at high-risk for developing autism.
According to a new study from the University of California at Davis, moms who had a fever from any cause during pregnancy were more than twice as likely to have a child with autism or another developmental delay, when compared with moms who did not run fever during pregnancy. Moms who had the flu during pregnancy were not at greater risk for having children with autism or another developmental delay.
A specific antioxidant supplement containing N-Acetylcysteine, or NAC may be an effective therapy for some features of autism, according to a pilot trial from the Stanford University School of Medicine and Lucile Packard Children’s Hospital that involved 31 children with the disorder.
Interesting article about the financial impacts of autism on American families from The Atlantic.
Researchers are conducting advanced trials of the first drugs expressly designed to correct the genetically induced signaling problems in the brain that result in autism. The early indications are positive enough to offer new hope for families and spark interest from drug companies.
Maternal Periconceptional Folic Acid Intake and Risk of Autism Spectrum Disorders and Developmental Delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) Case-control Study.Published May 30, 2012 in American Journal of Clinical Nutrition
Maternal periconceptional folic acid intake may reduce ASD risk in those with inefficient folate metabolism
Study from UCSB Examines Teaching Initiations in Social Intervention Programs for School Children with AutismPublished May 29, 2012 in http://www.ncbi.nlm.nih.gov/pubmed/22645399
A new study from UC Santa Barbara found that teaching initiations in social intervention programs improved social engagement for school children with autism.
Vanderbilt University researchers examine oxytocin and serotonin systems as biomarkers for autism spectrum disorders.
This article demonstrated that microglia, immune cells of the brain and spinal cord, have a role in reshaping the connections between cells during postnatal development.
Study from University of South Australia Found that Individuals with ASD had Impairments in Face Processing and Acquiring Familiar RepresentationsPublished May 24, 2012 in http://www.ncbi.nlm.nih.gov/pubmed/22643237
A new study from the University of South Australia and the University of Cambridge found that individuals with ASD had impairments in processing faces and acquiring new face representations for familiarity.
A Common X-linked Inborn Error of Carnitine Biosynthesis May be a Risk Factor for Nondysmorphic Autism.Published May 22, 2012 in Proceedings of the National Academy of Sciences of the United States of America
These data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism.
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.Published May 22, 2012 in PubMed
Data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism.
The CDC now reports that 1 in 88 children has an autism spectrum disorder. Yale autism researcher Dr. Kevin Pelphrey is only one of many scientists who have a child with autism.
New study by Dr. Rebecca Landa of the Kennedy Krieger Institute suggests that “head lag” test might help diagnose autism.
Copy Number Variations suggest that the distinction between milder neuropsychiatric conditions from those of severe developmental impairment may be a consequence of increased mutational burden affecting more genes
“The language difficulties often seen in individuals with autism might stem from an inability to integrate audiovisual information, a skill important for language development. We investigated whether 9-month-old siblings of older children with autism, who are at an increased risk of developing autism, are able to integrate audiovisual speech cues.”
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One in three young adults with autism has no paid job experience, college, or technical schooling nearly seven years after high school graduation, a new study finds.
Derivation of Autism Spectrum Disorder-specific Induced Pluripotent Stem Cells from Peripheral Blood Mononuclear CellsPublished May 10, 2012 in Neuroscience Letters
“Induced pluripotent stem cells (iPSCs) hold tremendous potential both as a biological tool to uncover the pathophysiology of disease by creating relevant cell models and as a source of stem cells for cell-based therapeutic applications. Typically, iPSC