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Seizures and the after-effects depends on genetics

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In recognition of epilepsy awareness month, this week we are interviewing Jill Silverman and Nycole Copping from UC Davis who published a paper looking at the causes and consequences of seizures across 3 different strains of mice, which are identical all but their background genetics.  This is important because new animal models of autism are built upon these different background strains, but very little work has been done to really understand how these different tiny changes in genetic background influences response to an environmental factor.  In this study the environmental factor was a drug that produces seizures.  Two out of the three strains showed seizures and all three showed some behavioral after-effects of the seizure – inducing drug.  Therefore, differences in background genetics influenced the outcome of the mice, an effect that is rarely studied.  The authors point out what these behaviors are, what they mean, and why animal models are important for understanding ASD and seizures.

https://www.ncbi.nlm.nih.gov/pubmed/31698263

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Genes and Environment, Genes and Environment. Go together like aging and retirement.

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Twins with autism, where either one or both is diagnosed, is crucial to understand the role of genetics and the environment to both autism diagnoses and now, autism traits.  In a study this week, researchers using data from the California Twins Study examined the genetic and environmental influences of brain development in multiple regions and measures.  While estimates of genetic and environmental influences can only be modeled in twins, they can be experimentally tested in animal models.  Researchers at the University of Washington investigate what causes the link between air pollution in humans and autism by studying diesel fuel exhaust in pregnant mice.  Finally, across all of these disparate animal studies – does anything pull them together.  Are these models all one-offs or do they have anything in common?  It turns out disruption in normal brain activity is one thing that they have in common, and something that is at the common core of ASD neurobiology.

 

https://www.ncbi.nlm.nih.gov/pubmed/30659287

https://www.ncbi.nlm.nih.gov/pubmed/30668980

https://www.ncbi.nlm.nih.gov/pubmed/30679017

 

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Super siblings!

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This podcast is dedicated to siblings of people with autism who are typically developing.  They play an important and beneficial role in development of socialization of those with ASD.  But sadly, they also have issues of their own, such as a high rate of issues like anxiety and depression.  Those siblings may be genetic carries of a specific mutation and not have an autism diagnosis, but have increased risk for schizophrenia and cognitive disability.  Finally, just because they are considered “typically developing” doesn’t mean they don’t have challenges with adaptive behavior.  However, they have a very special relationship with their brothers and sisters, and the world needs these strong advocates for the community.

 

https://www.ncbi.nlm.nih.gov/pubmed/30280363

https://www.ncbi.nlm.nih.gov/pubmed/30248583

https://onlinelibrary.wiley.com/doi/full/10.1111/jcpp.12985

https://www.nature.com/articles/s41436-018-0266-3.pdf

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What the Trump presidency could mean for autism families

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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.

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Old exposures, new diagnoses and more efficient screening for toddlers

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This week, two important studies came out on different topics in autism research.  In the first study, an exposure which has been around for decades, PCB’s, a toxic industrial chemical which has been banned from manufacture or use for the past few decades, was linked to autism.  This dispels the myth that only exposures that have been introduced since the observance in the rise in diagnoses are relevant for study.  First author Kristen Lyall gives her perspective. Here is a website on how to avoid PCBs even though they have been banned.

Second, screening for autism in pediatricians offices has always been challenging.  Patients get 10 minutes at most with their doctor, these doctors have to fit in an hours worth of assessments in this time.  So how can you get them to conduct a screening for autism and add in extra questions?  Kennedy Krieger Institute published on a way that seems to work without sacrificing quality.  Hear more about both on this week’s podcast.

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Making sense of toxic chemicals and risk of autism

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On Monday the 1st, a consensus statement from over 50 expert scientists was published that collectively emphasized the link between toxic chemicals and neurodevelopment disorders like autism, learning disabilities and ADHD.  In this podcast, we want to help you understand why this is relevant for autism.  If you want to learn more about this statement and read about specific actions that can be taken to minimize exposures to these chemicals, go to www.projecttendr.com.  We will also be having a live chat about it on July 11th at 2PM EST.

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Early Germline Events in the Heritable Etiology of ASDs

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On October 1st, Autism Science Foundation, Autism Speaks and the Escher Fund for Autism co-organized a webinar entitled “Early Germline Events in the Heritable Etiology of ASDs”.  The goal was to bring together researchers who study the germline (the sperm and the egg and all cells which pass down genetic information) and those studying the genetics of autism to determine how “de novo” or “new” genetic mutations are happening and how environment plays a role in genetics of autism and vice versa, rather than separating the concepts out into “either/or” .  This is part of an ongoing online symposium series on the epigenetics of autism.  Dr. Amander Clark from UCLA and Dr. Ryan Yuen from SickKids Hospital presented and a panel of experts including Lisa Chadwick from NIEHS, Patrick Allard from UCLA, Stephan Sanders from UCSF and Janine LaSalle from UCDavis commented.  We hope you enjoy the 2 hour webinar.

 

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Rare vs. common genetic variation in autism? They are both right.

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This week’s podcast summarizes a new study which finds that in some people with autism, it takes just a few small mutations in a few key autism genes to lead to a diagnosis.  This is called the ‘rare variation theory’, but while it has been pretty well established, researchers still don’t know where these gene mutations come from.  A new joint ASF/AS/Escher Fund online symposium on October 1st from 1-3PM EST explores this issue.  Register here:

http://www.autismsciencefoundation.org/news/free-webinar-interaction-enviornment-and-genetics-autism-october-1st

Also, detecting early signs and symptoms is the key to intervening at a key critical time in brain development.  These early signs include stereotypy and sensory symptoms and patterns of these behaviors are different in people with autism.  How?  Listen to the ASF podcast to hear more.

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Targeting environmental chemicals in neurodevelopmental disorders

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This week a group of experts met to build consensus around the effects of environmental chemicals on the developing brain. Autism was part of this discussion. And a new large-scale study shows that c-sections do not cause autism, it is something else related to c-sections.