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 to autism symptoms. In addition to autism, mutations of these gene are associated with seizures and epilepsy. Because of the relatively high rates of mutations of this gene in autism and epilepsy, an amazing group of motivated families formed an organization to help support and awareness for this gene mutation. This week’s podcast includes a message from one of the leaders of this foundation: FamileSCN2A who are dedicated to help their children with the knowledge about their child’s genetic makeup.
Biomarkers can help distinguish different types of features but this week they were used to predict who would respond to Pivotal Response Training, or PRT. Researchers, led by Pam Ventral at Yale looked at how the brain responded to a social or non social situation as well as baseline features on standardized measures. Remarkably, these brain signatures were better at standard behavioral assessments at determining who would respond most positively to PRT. This study has enormous implications for personalized medicine approach and demonstrates how early studies in biomarkers many years ago have paid off for those with autism.
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 thing published or stated by him or his campaign on his website or in an interview. The following are covered: health coverage, Medicaid, mental health services, science and the environment, and education. The focus is now the proposed changes and policies could affect families with autism. There is also a special message at the end from David Mandell about how families can deal with the changes ahead. A transcript of the podcast is available here.
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 a year can change the trajectory of symptoms so those improvements are sustained, maintained or lead to even further improvements for 6 years after the initial intervention has stopped. This important finding was hidden by the BBC getting the headline wrong and hiding the true value of the research at the end of the story. This week’s podcast outlines the contribution of parent-implemented intervention and research studying autism even before symptoms emerge in improving trajectories rather than just immediate outcomes. Happy Halloween!
Parent training has a number of important uses in autism. For toddlers, parents help provide intervention strategies in a number of settings allowing skills to be generalized. In adolescence, parents can help implement behavioral rules that can manage non-compliant behaviors, aggressive, disruptive or impulsive behaviors. This week, research investigated the role of parent training plus and ADHD medication for ADHD symptoms in autism and the results are promising. Finally, a review of the new NIH funding in understanding the causes of autism is reviewed. You can also read this review at the ASF blogsite.
Cognitive ability, measured by intellectual quotient or IQ, has been thought to predict response to intervention, social abilities, adaptive behavior and long term outcome. Numerous studies have shown that it can influence what is labeled as a good outcome. However, two studies this week point out how those across the spectrum in cognitive ability still benefit from early intervention and make friends on the playground. In both studies, there were factors that were more important for outcome than IQ. So it may be an important factor in outcome, but not the only factor.
This week, ASF intern Priyanka Shah provides an 8 minute tutorial on the reading and interpretation of scientific literature. It’s worth the listen. It goes over what to pull from an abstract, what the different sections tell you about the study, where to get the paper if you can’t find it, and what are the most important parts. Here are some additional resources:
On request, ASF summer intern Evan Suzman produced this week’s podcast on new technology and how it is being used for good in people with autism. He looks at Google Glass, wearable biomonitoring devices and a video game that can help teach social skills. These new technologies can complement those like the iPad which are already in wide use. This was a topic that many listeners wanted to hear more about. Some of the technology is still experimental, but promising.
Last week, the Autism Society (www.autism-society.org) held it’s 48th annual meeting in it’s 50th year of existence. In addition to hearing an update on how people with autism and their families have benefited from autism research over the past decade, participants contributed to panels on experiences of adults, behavioral techniques, technology, the the history of autism. On this week’s podcast, hear about two of the sessions – how to teach social interaction on the iPad and how to be an effective advocate.
Studies looking at interventions in autism have been plagued with issues of what treatments will work best in what 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 first of it’s kind and will lead to better interventions to help people with ASD. Also, new research is using biological markers of autism to look at the effectiveness of interventions. The findings are still early, but promising and will help find out what types of treatment are best in which people.