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.
Podcast: The ASF Day of Learning Recap
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. They counted people with autism based on information on their death certificates. Not everyone with autism has this code listed on their death certificate – so likely this number is underestimated and the risk of drowning overestimated. The shocking results call for things like swimming lessons in those with autism and other drastic safety measures. People with autism ARE at a higher risk of drowning and we should all pay attention. Ways to prevent accidental death in people with autism are needed and the overall message should be the same. But the numbers themselves are probably a little off.
Click here to listen to this week’s podcast with Dr. Alycia Halladay.
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 have been asked and definitively answered: There is no link. But there are other factors linked to the development of autism that have solid scientific support.
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 in autism that is sensitive to hormonal influences, including influences from endocrine disrupting chemicals. The entire webinar, including questions from participants, can be found here.
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. But of course, the story gets more complicated than just more mutations – worse behavior. An analysis from a different group of individuals reinforced the role of copy number variations in symptoms, but when they matched the groups according to IQ, the autism symptom profiles were different. This shows that adaptive behavior and IQ are important to consider when considering how genetics influence autism symptoms. Finally, another study shows how important measuring genetics is to understanding environmental factors associated with autism. Michela Traglia reports that increases in PBDEs in moms of kids affected with autism can be explained by mutations in the gene that breaks down these chemicals. It’s important to study genetics of autism, but also crucial to know the genetics of the entire family as well.
Click here to listen to this week’s podcast with Dr. Alycia Halladay.
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 months of very, very, very early intervention. They found that the way the brain responded to social stimuli was more like those without an autism diagnosis. This study shows that a biological marker of brain function is altered after behavioral interventions that are intended to do just that – change the way the brain functions. Click here to learn more and listen to this week’s podcast with Dr. Alycia Halladay.
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 brain controls other genes that code for things like neuroinflammation and development. Clearly more studies are necessary but it is consistent with the “female protective effect” in autism. The full text can be found here.
And also, there was a study on genital herpes and autism that CNN got totally wrong.
Click here to listen to this week’s podcast with Dr. Alycia Halladay.
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. After that, some early results from the EARLI study, which examined pregnancies in families where an older sibling was diagnosed, was presented. In this study, Bo Park and her colleagues at Drexel University, Johns Hopkins University, University of California at Davis and Kaiser Permanente show that testosterone levels in pregnancy are not related to later autism symptoms unless the older sibling affected is a girl. These findings can illustrate why girls are less likely to be diagnosed with autism compared to boys. The study is open access and can be downloaded here, thanks to the journal Molecular Autism.
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 individual studies. This is especially helpful in determining the effectiveness of different interventions. This week, Dr. Matt Lerner and his colleagues at the Social Competence & Treatment Lab at Stony Brook University published a meta analysis of group social skills interventions. They put together well-designed studies and asked: Do they work? Are they better than getting nothing at all? To find out, click here listen to this week’s ASF podcast with Dr. Alycia Halladay.
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 sex. Dr. Sara Schaafsma and Dr. Donald Pfaff from Rockefeller University combined the three, and found that epigenetic changes in an autism risk gene called contact in associated protein like 2 contributed to elevation of risk for autism behaviors following maternal infection. In other words, being male and having the mutation produced small changes, increased by the environmental factor. In another separate study, Dr. Keith Dunaway and Dr. Janine LaSalle at UC Davis used brain tissue to look at a rare variant for autism on chromosome 15. Typically, mutations of this area of the genome are thought to cause autism. However, the effects of these mutations are also increased when environmental factors are present, leading to more de novo mutations. These are all examples of scientific breakthroughs that are helping better understand what causes autism. Even when it looks like one thing, it’s multiple things.
Click here to listen to this week’s podcast with Dr. Alycia Halladay, ASF’s Chief Science Officer.
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 doesn’t work to improve communication in those with little or no language. This podcast summarizes the evidence, which points to combinations of things, rather than things in isolation, and peeks in on ways in which interventions can be better directed and made more effective. Scientists at Rutgers University—Newark, UCLA, and Boston University contributed to the research discussed this week by Dr. Alycia Halladay.
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 Drexel University published how a new tool to diagnose anxiety in those with autism was validated, setting the stage for its use by physicians and clinicians who don’t have a lot of experience with autism to help better understand the symptoms of their patients. Click here to listen.