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.