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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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CBT and ADDM – two acronyms in the autism news

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Two studies missed last year (sorry) but are of importance to the autism community include a modified version of Cognitive Behavioral Therapy to treat anxiety, which was adapted and updated for people with ASD.  It also works better than traditional CBT, which is good news for  the 80% of people with ASD that also suffer from anxiety.  Also, in recognition of MLK day today, the CDC released information last year that shows that 1/4 of those that they counted in their prevalence numbers were missed by schools or other health care providers.  Unfortunately, those who were black or hispanic were more likely to be those that were missed but still met criteria.  This just shows that educators have to do better in helping those with ASD from all racial and ethnic backgrounds.

https://www.ncbi.nlm.nih.gov/pubmed/31868321

https://www.ncbi.nlm.nih.gov/pubmed/31755906

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Environmental factors: the forgotten stepchild of autism spectrum disorders

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When people hear the word “heritability” in mathematical estimates, they automatically think “just genetics”.  That isn’t true, and this week epidemiologist Brian Lee from Drexel talks us through his SpectrumNews viewpoint about what heritability actually is and why there is room for environment.  Also this week, twin studies, which have traditionally used the word heritability to distinguish genetic vs. environmental interactions, are studied in a new light.  This one shows that severity and differences of autism across the spectrum in identical twins are caused by environmental differences – not just genetics.

https://www.ncbi.nlm.nih.gov/pubmed/31853901

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What sperm tells scientists about the origins of ASD

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Does autism begin at a diagnosis, or before a diagnosis?  How early do genetics influence outcome?  This podcast explores a new angle to this question using studies in sperm.  One type of major ASD relevant mutation is de-novo mutations, meaning they are seen in the person with ASD but neither biological parent.  So where do they come from?  They may come from germ cells of the embryo of the parent, which forms the sperm and the egg.  Researchers from UCSD looked at mutations in sperm vs. blood in fathers of those with de-novo mutations and found an enrichment of genetic mutations in sperm.  This means the window of susceptibility can include not just things that happen at conception, but before conception.  Below is a graphic taken from a commentary of this study in Nature by Eric Morrow which may be helpful.