This week’s International Meeting for Autism Research was filled with important presentations on the multiple causes of autism, interventions, diagnosis, neurobiology, services, family and self-advocate perspectives, the list goes on and on. There is a great recap on www.spectrumnews.org. An underlying theme ran through the presentations. That is, that the previous “well, we don’t see differences because there is lots of heterogeneity in autism” explanation isn’t cutting it anymore. We know people with autism are different, and parents, self-advocates and researchers are starting to deal with it by stratifying groups by their genetic backgrounds. While not a complete solution to this challenge, research at IMFAR shows that identifying different subgroups based on genetics is helping to explain symptoms.
Last week CNN.com reported on a study that showed slight improvement of autism symptoms in children that received a single infusion of their own umbilical cord blood. While the study was interesting, the authors were the first to acknowledge the limitations, however, this did not stop the media from misrepresenting the results. Details are explained in this podcast. In addition, a big win this week for precision or personalized medicine: different symptoms and different genetic mutations are linked to different outcomes from different anti-seizure medications.
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 firstname.lastname@example.org
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.
Overall, the scientific research examining the efficacy of oxytocin treatment in autism spectrum disorder has been mixed. On a previous podcast, studies in the way the oxytocin receptor was turned on and off were explained which may account for variability in treatment response. This week, two studies in Japan show that specific mutations in the oxytocin receptor product predict who will respond to oxytocin treatment and who will not. Therefore, the oxytocin story is one of the first examples of using genetic findings to push better treatment on an individual level, otherwise known as precision medicine.