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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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In autism, what does protection mean?

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Some autistics are offended by the word “protection” when it comes to autism, but in addition to things increasing the probability of a diagnosis, some things reduce the probability?  This week’s podcast explores the female protective effect as well as a new study from the BASIS study in the UK looking at early regulatory function as a protective factor in ASD and ADHD traits.

https://www.ncbi.nlm.nih.gov/pubmed/31347307

https://www.ncbi.nlm.nih.gov/pubmed/31351456

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What’s new in the immune system and ASD

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This holiday weekend always triggers a reincarnation, a resurrection of the vaccine – autism hypothesis.  Many of you have read about the measles epidemics that are hitting many areas of the country.  But besides vaccines, there are other aspects of the immune system that may be linked to autism in some people.  The include family history of autoimmune disorders as well as specific genetic mutations that confer protection against subtypes of ASD.  This week’s ASF podcast will explore these theories and present different ideas on how the immune response is involved in autism, and if it is at all.

https://www.ncbi.nlm.nih.gov/pubmed/30976114 

https://www.ncbi.nlm.nih.gov/pubmed/30975444

 

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How early do females with autism show differences?

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Using high risk baby siblings research design, scientists at Yale University showed that as babies, girls with autism show an unusual pattern of social attention for their age, spending most of their time looking at faces.  This is in stark contrast to findings in boys.  Together with other data, the authors conclude that this early social behavior may mitigate, or protect against, the symptoms of ASD later on in life.

In the second half of the podcast, the new supplement to the journal Pediatrics is summarized, which includes important new guidelines and recommendations that affect people with autism.  As promised, here is the link so you can see for yourself.

 

 

 

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Sisters, sisters, there never were such devoted sisters

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A special podcast this week on the Autism Sisters Project, in partnership with Icahn School of Medicine.  I talk about how the idea came about, what ASF is doing to help find out what sisters can contribute to the science of autism, and why sisters are in a unique position to do so.  Please read Lauren Singer’s special letter to the editor to Molecular Autism about being an undiagnosed sister here: http://www.molecularautism.com/content/pdf/s13229-015-0046-8.pdf