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A tool to describe strengths of people with autism

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Due to popular demand, this podcast is dedicated to the International Classification of Functioning, or ICF.  This is a tool used to measure functioning in people with not just autism, but across individuals.  As the expert guest, Soheil Mahdi, describes in this podcast, it isn’t about replacing a diagnosis of autism, but complementing the diagnosis with a description of ways the person is functioning in society, what strengths they have and how it that may identify opportunities for autistic individuals.  Soheil is a fellow at the Karolinska Institute and ASF is collaborating with him on the employment policy brief.  Thank you for suggesting this topic for a podcast!

 

Here are some other resources of interest:  https://ki.se/en/kind/startpage

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Reusing and recycling autism data from brain tissue

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In a new study in animal models, researchers demonstrate how genetic variability in key risk genes leads to different brain development patterns.  Studying the brains of people with autism is challenging, since there are fewer resources to study.  However, scientists get creative and collaborative and re-analyze datasets previously published to look at different research questions.  That’s what happened this week in a collaboration between Brown University and UCLA, showing that as the activity of genes which controls the synapse goes down, so do genes affecting mitochondrial function.  Another brain tissue study showed that the stress of the endoplasmic reticulum, which is associated with the mitochondria, may be elevated.  Not all research data can be re-purposed again, which is why it is so important to study the brains of people with autism.  If you would like to learn more, go to www.takesbrains.org/signup

 

https://www.ncbi.nlm.nih.gov/pubmed/29859039

https://www.ncbi.nlm.nih.gov/pubmed/29761862

https://www.ncbi.nlm.nih.gov/pubmed/29901787

https://www.ncbi.nlm.nih.gov/pubmed/29926239

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Ode to autism dads

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On the heels of Father’s Day, this week’s podcast summarizes the last year or so of research which focuses on the fathers.  This includes genetics, parental stress and quality of life, and broader autism phenotype features.   Of note, two new studies that look at antidepressant exposure in father and probability of having a child with autism – a variation on studying maternal exposures.   For anyone interested, here is a list of references used:

 

https://www.ncbi.nlm.nih.gov/pubmed/28630308

https://www.ncbi.nlm.nih.gov/pubmed/28750543

https://www.ncbi.nlm.nih.gov/pubmed/29884724

https://www.ncbi.nlm.nih.gov/pubmed/25339495

https://www.ncbi.nlm.nih.gov/pubmed/29731598

https://www.ncbi.nlm.nih.gov/pubmed/29478155

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What the Tooth Fairy knows about autism

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A new study uses baby teeth, which are formed in pregnancy and emerge at about 6 months to a year, to understand the dynamics of metals in people with autism.  Not just the levels, but the cycles of zinc and copper, which goes up and down normally with regular biological processes.  This could be the start to many more studies which use baby teeth to understand prenatal and early neonatal exposures in people with autism.  Also, the largest study published so far on food allergies confirmed a higher than normal presence of food, respiratory and skin allergies in people with autism.  Are allergies part of autism?  Probably not, but there seem to be a subgroup of people with immune issues that warrant specific treatments for those allergies.

 

https://www.ncbi.nlm.nih.gov/pubmed/29854952

 

https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2683952

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Sobering statistics on suicide

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Suicidal thoughts and suicidal attempts have been shown to be increased in people with ASD.  Rates are similar to those with bipolar depression and schizophrenia, but are higher even without psychosis.  This is shocking and an urgent health issue in the autism community.    This week’s podcast summarizes recent data, publications, presentations and concerns of thought leaders in autism about rates of suicide, what the risk factors are, and where research should be directed to prevent suicide.  If you or anyone you know is thinking about ending their life, please reach out to the National Suicide Prevention Hotline :  800 273 8255.

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In partial praise of the DSM5

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While much work needs to be done to include individual abilities and disabilities into the DSM5, after the CDC prevalence numbers were published last month, it became clear the old DSMIV was not working.  In a replication of a previous finding, it showed that the DSMIV categories of Aspergers, PDDNOS and autistic disorder were just not being use consistently across states, and left the interpretation of those diagnoses somewhat meaningless.  While DSM5 is a step in the right direction, more work needs to be done to ensure everyone is receiving the most specific diagnosis possible, and getting the services they need.

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The sticky subject of cost effectiveness

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In a perfect world, money would not matter.  But in this world, it does, and a dollar spent on one thing in the clinic by families, society and insurance companies means a dollar not spent somewhere else.  Therefore, studies on cost effectiveness need to be conducted to determine how resources may be best used.  In this podcast, Dr. Tracy Yuen of University of Toronto explains two different analyses which looked at 1) universal screening for ASD and 2) use of genomic sequencing to identify novel variants in people with ASD.  Thank you to Dr. Yuen for explaining the process behind this and these intriguing findings.  You’ll have to listen to find out what they are.

 

https://www.ncbi.nlm.nih.gov/pubmed/29651777

 

https://www.ncbi.nlm.nih.gov/pubmed/29644584

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A sampling of science from the International Meeting of Autism Research

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In case you didn’t have time to jump on a plane and fly to the Netherlands last week for the International Society of Autism Research meeting, this week’s podcast is a short summary of just a few of the presentations.  There was more of an emphasis on what has been called “real life” research questions like employment, quality of life, and relationships.  As a result, some of the more basic science questions around autism are now being presented at other meetings.  This is a shame.   This podcast follows some of those basic science questions to the now translational opportunities that were presented at the meeting.  It also highlights some newer findings that will provide help to people at all ages who need supports and services.

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Where the wild new genetic hot spots are

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Three new studies, all with the common element of inclusion of ASF postdoctoral fellowships as authors, appeared this week using whole genome sequencing technologies to look at new areas of the genome.  Not just new genes, but totally unexplored ares of DNA that were only possible to examine through these newer technologies.  They are called regulatory non-coding regions, because they regulate genes known to be associated with autism – but don’t code for any proteins.  Interestingly enough, they are carried by the unaffected father.  As one of the authors on the studies and guest on this podcast, William Brandler explains, they regulate genes, they don’t cause autism, otherwise the non-affected fathers would not be non-affected.  Another ASF fellow, Donna Werling, published an analysis which called for careful consideration of the statistics around these findings.  After all, this is a relatively unexplored territory.

 

https://www.ncbi.nlm.nih.gov/pubmed/29674594

https://www.ncbi.nlm.nih.gov/pubmed/29703944

https://www.ncbi.nlm.nih.gov/pubmed/29700473

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Clinical trials talk with Tom Frazier from Autism Speaks

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This week, a special surprise:  a conversation with Dr. Thomas Frazier, Chief Science Officer of Autism Speaks, on what is needed for better clinical trials for drug treatments for ASD, and what they are going to be doing to help move the science along.  Of course, the conversation hit on other topics, like disclosure of a diagnosis, sex differences, and some of the newest more exciting findings in autism research.