One of areas of genetic interest of autism is a region of chromosome 15. Only about 3% of people with autism have the mutation, but 80% of those with the mutation have autism. It is so important that people with duplications of this area have formed their own advocacy group called the Dup15 Alliance. I was honored to attend their family an scientific meeting and give a summary of what scientists have learned about autism through studying this chromosome, how kids with this mutation and autism are similar and different from those with autism but not the mutation, how the families are managing life threatening seizures, what the gene does, what the brains look like, and how mutations of this chromosome do in fact interact with the environment. Thank you to the scientists who study this area and the very brave, selfless and amazing parents who I talked to.
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.
On Thursday, March 30th the Autism Science Foundation held their 4th Annual Day of Learning in NYC. If you were not able to attend and can’t wait for the videos of the talks, this week’s podcast attempts to summarize what was presented.
A list of the talks are:
- Autism Research: Where Are We Now? – Dr. Wendy Chung (Simons Foundation)
- Housing Options for Adults with Autism – Amy Lutz (EASI Foundation)
- Improving Communication Between Parents of Children with Autism and Teachers – Dr. David Mandell (University of Pennsylvania)
- Developing Clinical Biomarkers – Dr. James McPartland – (Yale University)
- Understanding Modifiable Autism Risk Factors – Dr. Craig Newschaffer (Drexel University)
- Helping People with Autism Develop Practical Skills – Dr. Celine Saulnier (Emory University)
- New Technologies to Improve Autism Diagnosis – Dr. Robert Schultz (Children’s Hospital of Philadelphia)
- Understanding the Female Protective Effect – Dr. Donna Werling (University of California, San Francisco)
David Mandell’s presentation on parent/teacher communication was based, in part, on this publication: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676744/
Last week, another Baby Siblings Research Consortium Project (BSRC) published an intriguing finding which also has the bonus of being a replication. Mark Shen, PhD, from the University of North Carolina at Chapel Hill found higher levels of extra axial fluid in the brains of infants who went on to later be diagnosed with autism, and even higher levels in those with severe autism symptoms. Extra-axial fluid is also called cerebrospinal fluid, the fluid that holds the brain steady in your head. Other functions of extra-axial fluid and what this means on how it may contribute to autism risk are described in the podcast. He not only explains the findings, but conveys what families should know about them and how they can help with early identification of ASD.
The brain is developing even after birth. So interventions that are given very early have the best chance of remolding and rewiring a brain with autism to prevent autism related disabilities. This week, a group from the University of London, Duke University and University of Washington measured brain activity during tasks that required social attention following 2 months of very very very early intervention. They found that the way the brain responded to social stimuli was more like those without an autism diagnosis. This study shows a biological marker of brain function is altered after behavioral interventions that are intended to do just that – change the way the brain functions.
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.
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.
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
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.
Hear what you missed if you were unable to attend the Seaver Autism Conference on September 25th! Dr. David Skuse discusses “where are all the girls with autism”, summarizing evidence that some girls with high verbal IQ and autism might be missed, suggesting genes associated with high IQ may be protective against a diagnosis until adolescence. Also, ASF grantee Dr. Jennifer Foss-Feig describes how biomarkers can be used to improve personalized medicine. Finally, a summary and review of the new air pollution systematic review and meta analysis. Limited evidence does not equal none, and air pollution is a real problem. Here is a link to the paper: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161851. All in 12 minutes.