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Psychiatric decompensation and autism: Two words you never want to hear together

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A series of three scientific articles explore the link between the onset of psychiatric symptoms in adolescence in people with Phelan McDermid Syndrome, or PMS.  PMS is caused by a mutation in the SHANK3 gene, leading to a wide range of medical, behavioral and intellectual challenges, as well as autism spectrum disorder.  Scientists used a broad literature review as well as the PMS patient registry to better describe what was going on, and a group at Duke compiled a case series of girls affected that were responsive to treatment.  While so far this decompensation as a result of onset of psychiatric illness has only been documented in PMS, families across the spectrum should be aware so they can seek immediate help for their child if they see similar symptoms.

https://www.ncbi.nlm.nih.gov/pubmed/32050889

https://www.ncbi.nlm.nih.gov/pubmed/31879555

https://www.ncbi.nlm.nih.gov/pubmed/32015180

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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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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.

 

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The newest on using genes to predict later diagnosis and those immune blebs in the brain

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Hot off the press:  new data from a collaboration between the BSRC and geneticists in Canada demonstrate the utility of genetics to predict either ASD or atypical development in infant siblings of children already with a diagnosis.  Researchers have been trying to develop more precise biological mechanisms to make predictions in these infants, because they have a 15x greater chance of having a diagnosis, they can’t afford a “wait and see” approach.  Also, while genetics had originally been thought to be irrelevant to some brain pathology in ASD, it’s now been shown possible that it contributes to the immune hyper activation in the brain.  This week, Dr. Matt Anderson from the Autism BrainNet describes “blebs” in the cells of the brain caused by t-lymphocytes.  What causes them?  Genes?  something else?  Thank you to Dr. Anderson for joining in this podcast to explain.

https://www.ncbi.nlm.nih.gov/pubmed/31801954

https://www.ncbi.nlm.nih.gov/pubmed/31591744

 

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Praise for genetic testing in ASD

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Genetic testing for autism spectrum disorders is not just about finding the gene.  So many genes have been found that genetic testing allows families who have a rare genetic disorder to find each other, support one another, raise money for research and train physicians to better help their community.  While genetic testing isn’t always pushed, it should be.  Autism Science Foundation has organized an initiative called AGENDA (www.alliancegenda.org) to bring together rare diseases associated with ASD.  This is important in moving from discovery to development faster.

https://www.ncbi.nlm.nih.gov/pubmed/31542846

https://www.ncbi.nlm.nih.gov/pubmed/31548702

 

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SPARK it up

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You may have heard of SPARK, it is the largest genetics research project in autism spectrum disorders.  But have they found anything?  Yes!  Pam Feliciano of SPARK discusses what the project is, what a pilot study has found, and how the results might help families with ASD.  In addition, a different but complementary study identified new genes associated with autism.  Given that one of them is a target of environmental factors, it’s time to spark up studies looking at gene x environment interactions as well.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707204/

https://escholarship.org/uc/item/36f811zq

https://www.tandfonline.com/doi/full/10.1080/15592294.2019.1656158

 

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Mirror mirror on the wall, what is the fairest early predictor of adult language ability?

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Scientists study motor skills in early development not just because it is one of the first features to emerge, but because it is predictive of later social communication development, and as it turns out, later expressive language development.   A new study combining data from 2 countries shows that early motor deficits predict language abilities all the way up to age 19, so focusing on early motor skills is imperative for early intervention.  Also this week – a review on why those tiny details in genetics of ASD can be so helpful for people across the spectrum and families.

https://www.ncbi.nlm.nih.gov/pubmed/31429087

https://www.ncbi.nlm.nih.gov/pubmed/31491383

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Understanding the brains of people with autism with Daniel Geschwind, MD, PhD

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This week’s ASF podcast is a special treat – Dr. Daniel Geschwind from UCLA provides an understanding of the brains of people with autism, focusing on those with a mutation in chromosome 15.  He goes over how they are similar and different (teaser: they are more similar) and answers questions from families about how this research is important for helping improve the lives of people across the spectrum.

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Yeah, another study about autistic poop

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This week’s podcast includes a summary of the new study, this time in an animal model, looking at microbiome transplantation.  Because this was more of an experimental model, the researchers could be more rigorous in their design and look at things like behavior, brain activity, and specific biological pathways.  While a mouse does not have autism, transplantation of the autism microbiome resulted in autistic-like behaviors.   Second, a hopeful message of the value of participating in research on outcomes – those infants that were tracked prospectively showed improved outcomes later on, suggesting that all of the extra attention they get leads to a reduction in symptoms and an improvement in adaptive behavior.  Even if you do not have a family history of autism – participate in research.  It’s good for your child, and it’s good for other people’s children.

 

https://www.cell.com/cell/fulltext/S0092-8674(19)30502-1 

https://www.ncbi.nlm.nih.gov/pubmed/31032937