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Genes genes all in an order, the ones you have, the greater risk of disorder

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This week, a special focus on genetics:  what type, where do they come from, what do these genes do and how do they influence risk of a wide array of psychiatric issues including autism.  The results come from the largest study to date of people with autism as well as those with ADHD, bipolar disorder and schizophrenia.  It’s also the largest study of the Female Protective Effect so far.  Even if genetics does not explain everything about ASD, genetics is important and you deserve to know why.  Below is a graphical abstract of what they found:

 

 

https://www.cell.com/action/showPdf?pii=S0092-8674%2819%2931398-4

https://www.ncbi.nlm.nih.gov/pubmed/31835028

 

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The AAP Empowers Pediatricians to Help Kids with ASDs

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Thank you to the American Academy of Pediatrics for publishing an updated guide for their 67,000 members about identification, evaluation and management of children on the autism spectrum.  Pediatricians have a lot of things going on every day and could use a primer, or a condensed guide, on what the basic level of care should be for kids and families affected by ASD.  Here, thanks to Drs. Susan Hyman, Susan Levy and Scott Myers, from the council of the AAP on children with disabilities, they have one.  This podcast will summarize the main points of what the guidance document says.  Please download it and share it by clicking here:  https://pediatrics.aappublications.org/content/pediatrics/early/2019/12/15/peds.2019-3447.full.pdf 

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Investigating inequality in autism spectrum disorder

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While autism organizations might not always agree on everything, there is something that we all feel is unacceptable and is priority for research:  racial, ethnic, and poverty – induced inequities in access to services for ASD.  This podcast covers what scientists know about these disparities, and highlights new research that is doing something about them.  There is much more that needs to be done in this area, and while some of this is not new news, its information we all need to hear.

 

https://www.ncbi.nlm.nih.gov/pubmed/31132161

https://www.ncbi.nlm.nih.gov/pubmed/31342443

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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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Autism: Difference or Dysfunction?

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The question of whether or not autism is a difference or a true dysfunction in brain development has been debated for years.  A new study from Canada demonstrates that within an autism diagnosis, there is less of a difference in symptoms in the last 5 years than there was 30 years ago.  This raises a lot of questions about what autism researchers have been studying lately.  It also reinvigorates the discussion of whether the heterogeneity issue in autism has become such an issue that those with a true dysfunction are not getting the services they need, because of an interpretation that autism is just a difference.  The podcast includes thoughts of the community voiced on social media as well as opinions of the ASF scientific advisory board.

Article is open access here:  https://jamanetwork.com/journals/jamapsychiatry/fullarticle/2747847 

 

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Genes, environment and heritability: why does it matter?

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This week a 5 country collaboration including the largest number of people EVER revealed 80% of the causes of autism are heritable. This is incredibly important to understand autism and move forward with research that matters to families.  What it did not do was calculate the role of gene x environment interactions which seems to be the forgotten stepchild of autism research.  This week’s #ASFpodcast explains why it is important to understand the heritability while at the same time study the combined effects of genetic and environmental factors.

https://jamanetwork.com/journals/jamapsychiatry/fullarticle/2737582?guestAccessKey=d82b0145-f179-48bd-91bb-f77865732c3c&utm_source=For_The_Media&utm_medium=referral&utm_campaign=ftm_links&utm_content=tfl&utm_term=071719 

 

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INSAR with a T, for “technology”

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Lots of news outlets have great summaries of things that were presented at the International Society for Autism Research. However, one area was relatively missed:  technology.    This week’s podcast summarizes advances in technology for people with autism, how they are being used, what they could be used for and how they will improve services and help for those on the spectrum.  They range from ways to aid diagnosis, to better understanding of features and symptoms in different settings, to improved intervention.

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How do parents choose different interventions?

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Parents have choices of dozens of different autism interventions, available in private and public settings.  A new study explores factors which influence parents decisions on different interventions, how they are similar to each other and different.  They include cognitive ability of their kids with ASD and economic resources.  Parents in the US may have similarities in how they obtain interventions, but they are also similar in how they identify autism signs in their preschool kids, and these similarities are seen across the world.  In a new study of over 19,000 preschoolers with autism, some similarities are seen in parent reported symptoms of ASD across 24 different countries.  This is pretty remarkable given societal, geographical, and cultural issues.  But it’s not all harmony and unity – there were lots of differences between parents and teachers which can have enormous impact on how autism is diagnosed worldwide.

https://www.ncbi.nlm.nih.gov/pubmed/30990248

https://www.ncbi.nlm.nih.gov/pubmed/30995081

 

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Do the rules apply in school?

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This week is focused on what happens in schools, including classification, service receipt and new interventions.  How an educational classification translates to a clinical diagnosis, how and what factors are important in receiving services, what teachers think about repetitive behaviors and finally, a new intervention that can be delivered by therapists in school or mental health settings.  They all have real-life consequences for kids who are receiving services in school.

 

https://www.ncbi.nlm.nih.gov/pubmed/30892948

https://www.ncbi.nlm.nih.gov/pubmed/30848681

https://www.ncbi.nlm.nih.gov/pubmed/30889547

https://jamanetwork.com/journals/jamapsychiatry/article-abstract/2727134

 

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The average age of diagnosis depends on where, when, and how you ask

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While autism can be diagnosed reliably by 2 years of age, some people with autism don’t receive a formal diagnosis until much later.  Why not?  Racial and ethnic disparities as well as access to care issues are known factors.  This week, data from Denmark suggested that the diagnostic criteria has played a large role in prevalence in people with autism since 1980.  Many people who have autism may have been missed until they were older.  It suggests that older prevalence estimates were missing a proportion of autistic adolescents and adults.  Take away access and diagnostic barriers to a diagnosis, some kids followed from months of age in the baby siblings research consortium don’t receive a diagnosis at age 2, but do at age 5.  They always had autism, but their symptoms were sub-threshold for a formal diagnosis until age 5.

 

https://www.ncbi.nlm.nih.gov/pubmed/30398592 

https://www.ncbi.nlm.nih.gov/pubmed/30392626