The ASF Year End Review of Science

Just three days before 2024, ASF provides a summary of the the highlights of scientific discoveries and how they have translated into tools families can use. They include ways to speed up diagnosis and reduce waitlists, study of the brains in females and clinical recommendations for helping autistic females at birth, evidence of better practices around intervention and supports, and a review of the numbers of people who have a diagnosis. It isn’t comprehensive and if something was missed, our apologies, but the summary is 20 minutes.

You can read the text here: https://autismsciencefoundation.org/2023-year-end-review/

Support for Siblings during COVID

Everyone needed support during the pandemic, but families affected by autismneeded special support. This included siblings. Researchers at Massachusetts General Hospital tried out an intervention around stress and anxiety reduction in siblings in 2020. Not only was it liked, it worked. It didn’t completely eliminate stress and anxiety, nothing would, but it did help siblings manage a little better. Can it work outside the pandemic? There are certainly other situations where siblings could use a little more support.

https://pubmed.ncbi.nlm.nih.gov/36460184/

https://link.springer.com/article/10.1007/s10803-022-05500-7

https://onlinelibrary.wiley.com/doi/10.1002/aur.2987

https://onlinelibrary.wiley.com/doi/10.1002/aur.2987#aur2987-bib-0032

How that little amygdala makes a big difference in autism

The amygdala has been shown to be differently sized in autistic people – at first it is too big then it becomes smaller than typically developing people. But how early are these differences seen and does it relate to a diagnosis? The Infant Brain Imaging Study tackled this question in a recent study which compared those who were likely to develop autism at 6 months to those with Fragile X to see if there were differences and if it was specific to autism. Their findings will surprise you and have implications for targeted supports and interventions.

https://pubmed.ncbi.nlm.nih.gov/35331012/

Super, Superb and Sensational Siblings

Siblings of people on the spectrum, including autistic adults, are amazing. They support, advocate, fundraise, and now we know they actually have a direct influence on the outcome of their affected brother or sister. What’s that effect? When is it most obvious? Does gender or race matter? All of these questions will be answered by Nicole Rosen of UCLA on this week’s #ASFpodcast. And make sure to tune on on September 8th to or Sam’s Sibs Stick Together webinar. Info below.

https://pubmed.ncbi.nlm.nih.gov/34120483/

https://autismsciencefoundation.org/resources/sams-sibs-stick-together/
click here for a link to register for September 8th

ASD in the “next generation” of siblings

Times have changed. Once, parents of a child with autism were concerned about autism in younger siblings. Now those parents are grandparents, and worried about autism in their children’s children. Siblings of autistic adults are considering having children of their own and wondering what they should be prepared for when they have kids of their own. This week, Natasha Marrus from Washington University School of Medicine talks about her new study looking at the increase in probability of ASD in infants who have an aunt or an uncle with ASD. The results are not surprising, but they do have implications for actionable steps.

https://www.sciencedirect.com/science/article/pii/S0006322320313846?via%3Dihub

Genes, environment and heritability: why does it matter?

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 

 

DSM5 – where are we now?

Don’t be fooled, not all the studies on this week’s podcast focus on the DSM5.  But the first one, a review of a meta analysis and review of the dozens of publications that have emerged in the past 5 years around the DSM5 leads us off.  There are some people that weren’t captured by either DSM5 or Social Communication Disorder that need a diagnosis, and that should be the focus of future research.  A new topic of diagnosis is also explored by a large collaboration is addressed:  diagnosis in cousins.  They do show a higher probability of an autism diagnosis, but not as high as first degree siblings.  Finally, a new tool called JAKE in monitoring  treatment effectiveness is presented.  This could be used not just in the clinic but at home.  It includes monitoring of biological and behavioral features, and might be the next big thing in outcomes for treatment studies.

 

https://www.ncbi.nlm.nih.gov/pubmed/30852784

https://www.ncbi.nlm.nih.gov/pubmed/30851399

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402449/

Super siblings!

This podcast is dedicated to siblings of people with autism who are typically developing.  They play an important and beneficial role in development of socialization of those with ASD.  But sadly, they also have issues of their own, such as a high rate of issues like anxiety and depression.  Those siblings may be genetic carries of a specific mutation and not have an autism diagnosis, but have increased risk for schizophrenia and cognitive disability.  Finally, just because they are considered “typically developing” doesn’t mean they don’t have challenges with adaptive behavior.  However, they have a very special relationship with their brothers and sisters, and the world needs these strong advocates for the community.

 

https://www.ncbi.nlm.nih.gov/pubmed/30280363

https://www.ncbi.nlm.nih.gov/pubmed/30248583

https://onlinelibrary.wiley.com/doi/full/10.1111/jcpp.12985

https://www.nature.com/articles/s41436-018-0266-3.pdf

Quality vs. Quantity in an autism diagnosis

In the fight to ensure everyone with autism is detected and diagnosed as early as possible, community providers are sometimes pushed to the limit in what they can do.  They have a huge caseload and there are long waitlists.  So how accurate are autism diagnoses given by these providers with little time and little resources for training?  As it turns out, they are just okay.  Approximately 23% of those diagnosed by community providers were not diagnosed using standardized and validated autism tools.  How can we weigh this potential over and mis-diagnosis with the potential for missing individuals with autism and depriving them of interventions and services?  That’s a topic for another discussion.  However, one question on the cause of autism was addressed and a theory debunked:  autism is not caused by caesarean section deliveries altering the microbiome, and then leading to ASD.  The microbiome may be involved, but not because of method of delivery and use of antibiotic medications.

https://www.ncbi.nlm.nih.gov/pubmed/30270970

https://www.ncbi.nlm.nih.gov/pubmed/30273187