This week the Infant Brain Imaging Study, or IBIS, published it’s 2nd 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 increases in the size of certain areas of the brain between 6-12 months. This opens up opportunities for even earlier diagnosis of ASD in the future. Also, a group at Stanford shows the emergence and disappearance of co-morbid symptoms in autism, such as epilepsy, schizophrenia and ADHD, which are dependent on sex and age. Together, these studies show that autism begins very very early and symptoms and behavioral and biological features change over time.
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 aren’t 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: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5282802/pdf/13229_2017_Article_118.pdf
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 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. Matthew Lerner and his colleagues 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, listen to this week’s ASF podcast.
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.
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.
Happy MLK day – a day when we recognize a man for his contribution in justice, tolerance, equality and service, I highlight 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.
Happy New Year! Over the holiday break, a the largest study so far including the most number of countries analyzed the risk of having a c-section and autism. They found a consistent increase 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 podcast warns against the unintended consequences of linking c-sections to autism and offers an explanation of the findings in addition to what the study authors provide.
The year 2016 was eventful for many reasons. In this 20 minute podcast, we review some of the scientific discoveries that highlighted findings in causes, understanding, and treating ASD. Featured more this year is studies on the sibling of individuals with ASD, so we are calling 2016 “The Year of the Sibling” This review includes genetics, gene x environment interactions, diagnosis, the broader autism phenotype, and early interventions and the role of parent-delivered interventions in long term outcome. It also highlights the important role of studying brain tissue from individuals with autism to better understand people with autism across the lifespan, including those with known causes and unknown causes of ASD. We hope you find it informative – please send comments to email@example.com
On December 13, 2016, Dr. Matthew Anderson from Beth Isreal Deaconess Medical Center presented a 45 minute webinar on recent findings in autism thanks to studying the brains of people with autism. It covers genetics, neuropathology and immunology. It’s a great chance to hear a quick recap of findings from an Autism BrainNet node director. Please click above to watch the 45 minute presentation and questions from the audience. Most importantly, anyone can be a part of this important research by registering to learn more about the Autism BrainNet at www.takesbrains.org.
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 lifespan and deprives people with autism from developing social skills. Infants don’t even know why they avoid eye contact so at the Marcus Autism Center in Atlanta, researchers are using eye tracking technology to answer this question. The findings have clear implications for early intervention strategies.