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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

Click to access s41436-018-0266-3.pdf

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Quality vs. Quantity in an autism diagnosis

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In the fight to ensure everyone with autism is detected and diagnosed as early as possible, community providers are sometimes pushed to the limit in what they can do.  They have a huge caseload and there are long waitlists.  So how accurate are autism diagnoses given by these providers with little time and little resources for training?  As it turns out, they are just okay.  Approximately 23% of those diagnosed by community providers were not diagnosed using standardized and validated autism tools.  How can we weigh this potential over and mis-diagnosis with the potential for missing individuals with autism and depriving them of interventions and services?  That’s a topic for another discussion.  However, one question on the cause of autism was addressed and a theory debunked:  autism is not caused by caesarean section deliveries altering the microbiome, and then leading to ASD.  The microbiome may be involved, but not because of method of delivery and use of antibiotic medications.

https://www.ncbi.nlm.nih.gov/pubmed/30270970

https://www.ncbi.nlm.nih.gov/pubmed/30273187

 

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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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Hip hip hooray for toddler interventions for autism

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As always, good news and bad news in autism this week.  First the good news:  an intervention given between 9-14 months of age in children with a high probability of having an autism diagnosis improved autism symptoms at 3 years of age.  Now the bad:  mothers who experience severe childhood abuse are more likely to have a child with an autism diagnosis.  Why?  A new study explains it might have a lot to do with autism traits in the parents.  We would love to hear your thoughts on the results, please provide them in the comment section.

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And now….the 2016 year end summary of autism science

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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 ahalladay@autismsciencefoundation.org

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A scary halloween story about the media misrepresenting science

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How long do you have to study an intervention to see if it works?  Many scientists agree that it isn’t just about what happens in the short run, but if those interventions can be sustained for long periods of time.  In the case of very early interventions, it is now clear that treatment for about a year can change the trajectory of symptoms so those improvements are sustained, maintained or lead to even further improvements for 6 years after the initial intervention has stopped.  This important finding was hidden by the BBC getting the headline wrong and hiding the true value of the research at the end of the story.  This week’s podcast outlines the contribution of parent-implemented intervention and research studying autism even before symptoms emerge in improving trajectories rather than just immediate outcomes.  Happy Halloween!

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Unfortunate new risk discovered for people with autism and their siblings

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In addition to risks of anxiety, ADHD, mood disorders and other psychiatric issues, people with autism (and their siblings) show increased risk of substance abuse issues.  This information comes from a large scandanavian registry study that included over 26,000 individuals with ASD.  On this week’s podcast I discuss what this means for people with autism and their family members.

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A focus on the siblings of people with ASD

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Two studies recently add to an ever growing literature around undiagnosed siblings of individuals with autism.  While in autism features there is evidence of the “broader autism phenotype” in female siblings, there is no evidence of elevated sensory symptoms in those with a brother or system with autism.  The more we understand about the psychological and psychiatric features of siblings with autism, the more they can be supported to deal not only with their siblings challenges, but with theirs as well.

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Is the broader autism phenotype really so bad?

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In this week’s podcast we explore autism and autism-esque symptoms in family members, particularly siblings.  Siblings can show mild features, called the broader autism phenotype, all the way to an increased risk of mental illness including emotional and behavioral problems, ADHD and tic disorder.  This week we revisit the study of a large number of siblings in Finland and a new project looking at milder impairments in a smaller number of siblings with an older brother or sister with autism.  Also – as a special treat, highlights from the DUP15 meeting in Maryland this past week.