In the last version of the Diagnostic and Statistical Manual, the different subtypes of autism were folded into one label: autism spectrum disorder. A similar revision is being made around the International Classification of Diseases, the system the WHO uses across the world to describe autism and provide appropriate reimbursements for services and supports. In this version, the ICD-11, a combination of 300 different presentations of autism are described. A diagnosis can be made if 1 feature of social-communication and 1 feature of repetitive behaviors are documented, with an onset of any time in life. This is causing a lot of confusion in the community, because since the presentations are not specific to autism, it is difficult to provide an accurate diagnosis using the ICD-11. This week we talk to German psychiatrist Inge Kamp-Becker, MD, who outlines what the changes are, and how misdiagnosis can be made and what those consequences might be. Her summary is linked below.

https://www.nature.com/articles/s41380-023-02354-y

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

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

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/

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

Click to access s41436-018-0266-3.pdf