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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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Where superior ability crosses disability in ASD

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A study conducted by researchers at Yale this week revealed that while people with autism have disabilities in reading individual emotions, they have an unexpected amazing ability to understand and apply social rules to groups of people.  They understand social phenomena much better than those without. So how can this be?  Also, a new groundbreaking study shows scientists that there are changes in brain activity that are observed way before a diagnosis, which can change early detection and early intervention of ASD.

http://www.pnas.org/cgi/pmidlookup?view=long&pmid=31501348

https://www.ncbi.nlm.nih.gov/pubmed/31519897

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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