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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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The latest on marijuana and autism across the globe

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Since the ASF policy statement on marijuana for the treatment of ASD was published this summer, there have been some new scientific studies that may be of interest to families.  As it turns out CBD has opposite effects in the brains of people with autism compared to those without autism, meaning that it is absolutely essential that more research is done specifically in people across the spectrum in ASD.  Also, early studies in Israel and Brazil are showing some positive effects on behavior, but they are open label non controlled compassionate use basis studies, which in encouraging, but the science needs to be more rigorous and more studies need to be done in people with autism using standardized autism assessments if any progress is to be made.  Luckily a new study at NYU is enrolling for just that approach.  Please contact Latoya.King@nyulangone.edu if you want to learn more about that.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732821/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6784992/

https://www.ncbi.nlm.nih.gov/pubmed/31736860

https://www.ncbi.nlm.nih.gov/pubmed/30382443

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336869/

 

 

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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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Is It Too Good To Be True?

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There are small signs that an exciting finding may actually be “too good to be true”.  Are the differences so big it seems impossible to believe?  Is it hard to replicate?  In a new paper, Dr. Thomas Frazier and colleagues outline what these warning signs are are, and how scientists should critically read scientific findings that might be overreaching.  This week, Dr. Frazier answers some questions about what these flags are, and how families can think critically about scientific findings.

https://www.ncbi.nlm.nih.gov/pubmed/31618104

 

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#thisisanautismmentalhealthcrisis

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Mental health disorders are a serious problem across the lifespan in people with autism.  This has been shown by over 2 decades of research and further proven by a new meta analysis and a systematic review of the last 25 years of data.  What is the result of these mental health disorder co-morbidities?  Many times, these mental health disorders trigger a crisis situation: the police are called, someone goes to the hospital, may end up hospitalized, and family members are traumatized.  This week’s podcast summarizes the evidence and provides recommendations from scientists to help those with autism and possibly prevent crises from occurring.

https://www.ncbi.nlm.nih.gov/pubmed/31447415 

https://www.ncbi.nlm.nih.gov/pubmed/31652032

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The Pros of Prozac and the Placebo Effect

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Two of the largest randomized control trials of Prozac as an intervention for restrictive and repetitive behaviors were published recently.  They both coincidentally found no effect on the core features of autism, nor clinician rated improvement.  What they did find is a big placebo effect.  That is the behaviors of the participants changed even if they thought they might be getting the medication, but were actually getting an empty pill.  This is a big problem in research in studying medications across mental health.  So why is Prozac so popular?  And when it comes to some features of autism, is the placebo effect so bad?

https://www.ncbi.nlm.nih.gov/pubmed/31638682 

https://www.ncbi.nlm.nih.gov/pubmed/31267292

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Keep on Screening for ASD

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This week, a little longer #ASFpodcast on a topic that deserves a little extra attention:  screening for ASD.  Some media click-bait driven headlines have made it seem like screening for autism is a waste of time for parents, doctors and care providers.  That’s FAKE NEWS!   We talk to Whitney Guthrie from CHOP and Diana Robins from Drexel about recent studies that cast doubt on common screening tools, why doctors may not be administering them the same way all the time and how that makes a difference, the importance of screening and data that shows that it does help toddlers with ASD maximize their full potential.

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News new families can use, thank you to the BSRC

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This week an important study was released that provides information that parents can use – particularly parents with a child with autism and another on the way or who is an infant.  This of course comes from the Baby Siblings Research Consortium and makes particular observations about families with 2 or more affected children vs 1 affected child.  They have different rates of autism outcomes and trajectories of behaviors that parents and doctors should be aware of.  In addition a new meta analysis of vitamin supplementation shows that while moderate doses of vitamins may not be harmful, they may not also be helpful.  In other words, talk to your doctor about a nutritional plan and assessment, and save your money for things that are known to work.

https://www.ncbi.nlm.nih.gov/pubmed/31589284

https://www.ncbi.nlm.nih.gov/pubmed/31586029

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Praise for genetic testing in ASD

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Genetic testing for autism spectrum disorders is not just about finding the gene.  So many genes have been found that genetic testing allows families who have a rare genetic disorder to find each other, support one another, raise money for research and train physicians to better help their community.  While genetic testing isn’t always pushed, it should be.  Autism Science Foundation has organized an initiative called AGENDA (www.alliancegenda.org) to bring together rare diseases associated with ASD.  This is important in moving from discovery to development faster.

https://www.ncbi.nlm.nih.gov/pubmed/31542846

https://www.ncbi.nlm.nih.gov/pubmed/31548702

 

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SPARK it up

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You may have heard of SPARK, it is the largest genetics research project in autism spectrum disorders.  But have they found anything?  Yes!  Pam Feliciano of SPARK discusses what the project is, what a pilot study has found, and how the results might help families with ASD.  In addition, a different but complementary study identified new genes associated with autism.  Given that one of them is a target of environmental factors, it’s time to spark up studies looking at gene x environment interactions as well.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707204/

https://escholarship.org/uc/item/36f811zq

https://www.tandfonline.com/doi/full/10.1080/15592294.2019.1656158