“What is Profound Autism?” with Matt from the podcast Behavioral Observations

This week’s podcast will be an interview with Matt Cicoria from the podcast Behavioral Observations. We discuss the meaning of the words “Profound Autism” and why a blanket term of “autism spectrum disorder” may not be helping anyone on the spectrum. If you are in the Boston area on April 5th, please attend the Profound Autism Summit, link here: https://www.profoundautismsummit.org

Are new ICD-11 criteria for an autism diagnosis too vague?

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

Is it co-morbid or co-occurring?

A new paper in Translational Psychiatry this week outlines the reasons why some conditions that occur with autism are actually co-morbid, and not co-occurring. The podcast will break down clues on why sometimes they are co-morbid, and present an argument on why they are important in understanding the vast heterogeneity of autism.

https://onlinelibrary.wiley.com/doi/10.1002/aur.2898

https://www.nature.com/articles/s41398-023-02374-w

Animal models can explain heterogeneity

Just like no two people are the same, no two strains of mice are the same. Using dozens of different strains of mice with and without a genetic mutation associated with autism called CHD8, researchers at University of Southern California showed great variability in the effect of this mutation on behaviors associated with neurodevelopmental disorders. This can reflect the great differences across people with autism and even people with a rare genetic syndrome associated with autism. It isn’t just one gene, it’s the other hundreds of genes that can contribute to susceptibility or resilience to different features of NDDs. One thing this study did not do was overlay environmental factors, which will also significantly influence the variability seen across the different background genetics in these mice.

https://pubmed.ncbi.nlm.nih.gov/36738737/

Autism means different things to different people

At this year’s International Society of Autism Research meeting in Austin, TX, there was a variety of themes explored. From early development and milestones, to intervention and supports, to different features like sensory issues, treatment, and how to solve the problem of heterogeneity. It comes down to this: Autism means different things to different people. This is just a small subset of everything that was presented at #INSAR2022 and I hope that if you want to see more, you advocate to have the presentations posted online or even have the program book made available publicly. In the meantime, enjoy the 30 minute summary.

www.autism-insar.org

Four problems and a solution: Is there a way to solve the heterogeneity problem in research?

While a diagnosis of autism spectrum disorder may encompass many strengths, challenges, features and conditions, it is becoming increasingly difficult for researchers to figure out what is autism, and how to help those on the full spectrum. This week’s ASF podcast summarizes the challenges and a possible solution to grouping people according to their behavioral features. However, not everyone agrees with this approach. What do you think? How can researchers best help people across the spectrum recognizing the unique needs of those with different symptoms? Share your thoughts in the comments.

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2494

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2529

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2547

A genetic first approach to subtypes?

What causes some of the differences across people with autism? Can you predict who will have what features of autism by looking first at genetics? This week’s ASFpodcast is the first 20 minutes of a webinar with Samuel Chawner from Cardiff University that explains his findings about behavioral features across people with autism with difference in genetic makeup. The full webinar with video can be found here but you can listen to the presentation this week. There will also be more research on this topic.

The 2017 ASF Science Year-End Roundup

In 40 minutes, ASF summarizes the highlights in autism research from before diagnosis through adulthood.   It includes new intervention studies, ways to better diagnose ASD, to understand symptoms, females, sexuality, employment, neurobiology, genetics, and gene x environment interactions.   The major themes are the “H” word, or heterogeneity in symptoms across the spectrum, ways to make the broad spectrum smaller, and how big data approaches are helping make this happen.  Thank you to families who participated in research and tireless autism researchers for lending their skills to answer the tough questions.  And of course, thank you all for listening to these podcasts all year long.  The transcript with all the references used will be posted on the ASF blog in the upcoming days.

This type of autism is not like the other – and here is data to show it

Identifying subtypes for autism and narrowing down the heterogeneity of symptoms has been considered the holy grail of autism research.  If one person with autism is not like another person with autism, can they at least be put into groups to speed up studies into causes, intervention and services?  And how?  This podcast explains two different studies that used the same statistical method but different children with autism to identify different groups.  One of the things that helped define these groups was verbal ability and IQ.  For the first time, comorbid symptoms like medical issues and psychiatric diagnoses  are being taken into account.  Already, this approach is helping scientists better understand why fever improves symptoms in some people with autism.

The IMFAR wrap-up titled “Heterogeneity in autism: we aren’t going to take it anymore”

This week’s International Meeting for Autism Research was filled with important presentations on the multiple causes of autism, interventions, diagnosis, neurobiology, services, family and self-advocate perspectives, the list goes on and on.  There is a great recap on www.spectrumnews.org.  An underlying theme ran through the presentations.  That is, that the previous “well, we don’t see differences because there is lots of heterogeneity in autism” explanation isn’t cutting it anymore.  We know people with autism are different, and parents, self-advocates and researchers are starting to deal with it by stratifying groups by their genetic backgrounds.  While not a complete solution to this challenge, research at IMFAR shows that identifying different subgroups based on genetics is helping to explain symptoms.