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What is the problem getting to the bottom of biomarkers and gene x environment interactions

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Outcome measures for clinical trials and understanding and determining gene x environment interactions have been two (of many) challenging questions for scientists. In the first study, we explain a new study that looks at the feasibility of three potential biomarkers that have the potential to look at presence of a diagnosis as well as effectiveness of an intervention. In the second half, we describe some new research that shows novel approaches to better understand the presence of an environmental factor with genetic influences, or a new method to describe them in different communities. You can read the studies by clicking below:

https://pubmed.ncbi.nlm.nih.gov/36000217/

https://pubmed.ncbi.nlm.nih.gov/35974006/

https://pubmed.ncbi.nlm.nih.gov/35992618/

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Four problems and a solution: Is there a way to solve the heterogeneity problem in research?

While a diagnosis of autism spectrum disorder may encompass many strengths, challenges, features and conditions, it is becoming increasingly difficult for researchers to figure out what is autism, and how to help those on the full spectrum. This week’s ASF podcast summarizes the challenges and a possible solution to grouping people according to their behavioral features. However, not everyone agrees with this approach. What do you think? How can researchers best help people across the spectrum recognizing the unique needs of those with different symptoms? Share your thoughts in the comments.

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2494

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2529

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2547

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A genetic first approach to subtypes?

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What causes some of the differences across people with autism? Can you predict who will have what features of autism by looking first at genetics? This week’s ASFpodcast is the first 20 minutes of a webinar with Samuel Chawner from Cardiff University that explains his findings about behavioral features across people with autism with difference in genetic makeup. The full webinar with video can be found here but you can listen to the presentation this week. There will also be more research on this topic.

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Help for those with minimal verbal ability

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On this week’s ASF weekly science podcast, we provide a recent review on influences of speech and language both in those with ASD who are verbally fluent, as those who have minimal verbal ability. What does the brain look like in those with minimal verbal ability and are there interventions to help improve social communication ability in those with not just minimal verbal ability but also cognitive disability? What are some early markers or behaviors that predict understanding and communicating? Listen to learn more.

https://pubmed.ncbi.nlm.nih.gov/32909382/

https://pubmed.ncbi.nlm.nih.gov/32881387/

https://pubmed.ncbi.nlm.nih.gov/32827357/

https://pubmed.ncbi.nlm.nih.gov/32812191/

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The newest on using genes to predict later diagnosis and those immune blebs in the brain

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Hot off the press:  new data from a collaboration between the BSRC and geneticists in Canada demonstrate the utility of genetics to predict either ASD or atypical development in infant siblings of children already with a diagnosis.  Researchers have been trying to develop more precise biological mechanisms to make predictions in these infants, because they have a 15x greater chance of having a diagnosis, they can’t afford a “wait and see” approach.  Also, while genetics had originally been thought to be irrelevant to some brain pathology in ASD, it’s now been shown possible that it contributes to the immune hyper activation in the brain.  This week, Dr. Matt Anderson from the Autism BrainNet describes “blebs” in the cells of the brain caused by t-lymphocytes.  What causes them?  Genes?  something else?  Thank you to Dr. Anderson for joining in this podcast to explain.

https://www.ncbi.nlm.nih.gov/pubmed/31801954

https://www.ncbi.nlm.nih.gov/pubmed/31591744

 

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PMS: it’s not what you think

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Last weekend, the Phelan McDermid Research Foundation held their biannual family conference in Dallas Texas.  People with Phelan McDermid Syndrome, or PMS, suffer from seizures and intellectual disability, and about 70% have an ASD diagnosis, Over 150 families from across the world came together to show each other support, learn about housing options, receive genetic counseling, talk to experts and hear the latest research.  ASF attended the meeting and this podcast is a short summary of what was presented by researchers at the conference.  This syndrome is caused by mutations of the SHANK3 gene, which is present in about 1% of people with autism, making it the most common single genetic influence of ASD.  Even if you don’t have a mutation in SHANK3, many of the issues affecting those with PMS may apply to you.  To learn more about the conference, click here:  https://www.pmsf.org/ifc/

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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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Commonly used drugs that may help autism

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Sometimes treatment targets come from the places you wouldn’t expect.  This week, three new studies on the biological and sometimes, behavioral, effects of three commonly used compounds used to treat high cholesterol, edema, and angina were studied in people with autism.  Instead of focusing on just the behavior however, these studies took the approach of examining them from the behavioral side, determining if there was a biological reason why these compounds should be helping people with autism.  This means autism research has turned a corner – it’s not just about behavioral improvements, but about how the drug is working in the brain.  Also, a fun study about social media in people with autism.  They don’t just use it like the rest of us, it actually makes people with autism happy.

Here are the studies included in this week’s podcast:

https://www.ncbi.nlm.nih.gov/pubmed/29485900

https://www.ncbi.nlm.nih.gov/pubmed/29484909

https://www.ncbi.nlm.nih.gov/pubmed/29484149

 

https://www.ncbi.nlm.nih.gov/pubmed/29483603

 

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Chromosome 15-apallooza

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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.

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The IMFAR wrap-up titled “Heterogeneity in autism: we aren’t going to take it anymore”

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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.