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The waterbed around your brain (and its role in sleep)

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This week we have a very special guest:  Dr. Mark Shen from University of North Carolina at Chapel Hill, who has been leading the field in understanding the role that the fluid around the brain in autism.  This week he expands his research to show that this increase in extra – axial (around the brain) fluid is not limited to those with a family history of autism, and is seen both before and after a diagnosis.  This has implications for early detection of ASD, but more interesting, it may help explain why some people with autism have so many sleep issues.

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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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Autism diagnosed in school age, and does early intervention make a difference?

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Thanks to a Facebook follower, this week’s podcast highlights a new systematic review on Early Intense Behavioral Intervention. This systematic review, however, is not different from one published 5 years ago, because the nature of early interventions have changed so much that they no longer fit into the same criteria. While the rankings are disappointing, the findings do not reflect the ways in which newer interventions are being selected, delivered and studied. Also, we always hear about early diagnosis helping with early intervention. But what about kids who are not diagnosed until they reach school age? They have a different profile of ASD and may be a different subgroup of autism altogether.

https://www.ncbi.nlm.nih.gov/pubmed/29742275

https://www.ncbi.nlm.nih.gov/pubmed/29852752

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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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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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Just to be clear: people with Aspergers are not Nazi’s

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This week, a disturbing report from Molecular Autism published by an Austrian historian with no affiliation with autism, linked Hans Asperger to a eugenics facility in Germany and labeled him a Nazi sympathizer.   This was the first investigative report of the link using primary documents.  He had previously been considered a hero from trying to save his patients from the gestapo, and plead for them to be rehabilitated.    So which is true?   Hero or potential war criminal?  Maybe both.  This podcast goes through the 43 page article with the message that:  if you have Aspergers, you are not necessarily a Nazi.  Don’t let anyone tell you that, and if they do, email me at ahalladay@autismsciencefoundation.org

 

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Parents are people too

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Sometimes parents get a bad rap for not having autism themselves, or not being in touch with the challenges of autistic adults.  This week’s ASF Podcast highlights two new studies on the role parents play in science, research and understanding racial disparities.  A group in the United Kingdom released the results of a survey across Europe which examined parent perceptions on early autism research (think infants and toddlers) and how researchers could better help families at this stage.  Another study from researchers in Georgia and Connecticut revealed how important parents (and clinicians) can be in reducing the disparity in diagnosis between black and white children in the US.  Finally, a call to unite over a common challenge: employment.  If you have not done so already, please make your voice heard as a parent, autistic adult, employer or service provider on a survey gauging the needs of the entire autism community around employment.  http://www.lernerlab.com/employmentsurvey.html 

 

Here are the references used in this podcast:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230972/ 

https://www.autismspeaks.org/sites/default/files/docs/as_science_planning_survey_final_pdf_0.pdf

https://www.ncbi.nlm.nih.gov/pubmed/29126359

https://www.ncbi.nlm.nih.gov/pubmed/29100475

 

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Genes: the beginnings of autism treatment targets

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This week’s podcast focuses on two studies that help illustrate why studying individuals with a specific genetic mutation, or animal models with a particular genetic mutation, are so important.  MSSM researchers focused on individuals with FOXP1 Syndrome, which has a high rate of autism and could be the focus of future treatments.  In the meantime, researchers at UTSW, led by ASF fellow Christine Ochoa Escamilla, identified a particular brain chemical responsible for changes in brain activity following mutations of chromosome 16.  About 1% of people with autism have mutations in this chromosome.  Application of a chemical to counteract this chemical then led to improvements in brain activity, opening up the door to new drug targets that affect some of the more severely affected individuals with ASD.

 

Here are the references:  https://www.ncbi.nlm.nih.gov/pubmed/29088697

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-017-0172-6

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More on that Korea Daily mess. Plus early detection of ASD does improve outcomes.

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This podcast was going to be dedicated to new early detection research which shows what the USPSTF has been looking for – the link between early detection, early intervention, and improved outcomes in a community setting.  Those findings are still included this week, but there is a slight diversion in theme.  The podcast will also include  an explanation of the immune/microbiome study published in Nature and misrepresented  by Korea Daily.  The study is important, however, the media sensationalized the findings and did the research no favors by labeling it a “major cause”.   Learn what the study did and what it actually discovered in this week’s podcast.

 

Here are the references of the studies mentioned in the podcast:

https://www.ncbi.nlm.nih.gov/pubmed/28902840

https://www.ncbi.nlm.nih.gov/pubmed/28905160

https://www.ncbi.nlm.nih.gov/pubmed/27474118