This week’s podcast focuses on two studies that help illustrate why studying individuals with a specific genetic mutation, or animal models with a particular genetic mutation, are so important. MSSM researchers focused on individuals with FOXP1 Syndrome, which has a high rate of autism and could be the focus of future treatments. In the meantime, researchers at UTSW, led by ASF fellow Christine Ochoa Escamilla, identified a particular brain chemical responsible for changes in brain activity following mutations of chromosome 16. About 1% of people with autism have mutations in this chromosome. Application of a chemical to counteract this chemical then led to improvements in brain activity, opening up the door to new drug targets that affect some of the more severely affected individuals with ASD.
Here are the references: https://www.ncbi.nlm.nih.gov/pubmed/29088697
Last week, investigators with the Autism Treatment Network published a long awaited study on the differences between the DSM IV and DSM5. Other studies had relied on information on old pieces of paper to judge whether or not someone who met criteria under DSM IV would be now diagnosed with DSM5 criteria. This study, on the other hand, used in person evaluations of over 400 individuals with autism. PI from the Missouri site and lead author of a new study, Dr. Micah Mazurek was gracious enough to provide a summary of the findings in the podcast. A quick preview: they showed differences in the diagnosis in the group previously known as PDD-NOS. Is this a new type of autism? Their symptoms were less severe and they had normal IQ ability – do they have a subtype of autism or a new form of ADHD? This study isn’t the first to suggest using different categories of symptoms of autism like DSM IV did, and indicates that the new criteria of the DSM 5 are more specific. In addition, a 2 minute summary of all the great presentations at the Autism Society of America is given. Totally insufficient to describe everything that went on, but it’s a start.
This week two important studies which examine early influences of language development are explored. First, we are lucky that Dr. Aaron Shield from Miami University joined to explain why studying children who are deaf and have autism, as well as parents of deaf children, are important for understanding language development. He explores how autism is different and the same in those who are and are not deaf. Second, study of very early speech, even before language emerges, may help guide speech and language therapists about how they should be dividing their time in therapy in toddlers, especially those with a high probability of developing ASD. Thank you to both Drs. Shield and Chenausky for sharing their findings with us!
Happy 4th of July weekend. This week’s podcast is devoted to the studies in the past few months focusing on autism treatments that didn’t make it into the regular weekly roundup. They include data that shows promising results (peer networks and iPads) as well as those that didn’t do as well as hoped (social skills). There were also some that showed that some therapies just don’t have any good studies to show definitively if they are helpful or not. Take 8 minutes before the fireworks and listen to the latest on interventions of ASD.
This month, two new important research findings were published from scientists that study the very earliest signs and symptoms of autism. First, Dr. Suzanne Macari at Yale showed that a type of temperament in toddlers was associated with autism at about 3 years of age. This may be used in the future to develop specialized interventions very very early on. Meanwhile, Dr. Jessica Brian’s group in Canada used the very early signs of autism – social orienting – to develop a new intervention called the Social ABC’s which they piloted last year. Last week, a randomized clinical trial of this intervention showed improvements in social smiling, reactions to parents, and social orienting, suggesting it is a feasible and valid intervention option. There is now a list of these interventions that have been rigorously tested. This demonstrates that the early detection of features of autism, like temperament, can be turned into interventions to improve the outcome of toddlers with ASD.
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 have a child with an autism diagnosis. Why? A new study explains it might have a lot to do with autism traits in the parents. We would love to hear your thoughts on the results, please provide them in the comment section.
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.