The Importance of Model Systems

Animal models of autism, including cell based models, have received criticism because autism is a uniquely human condition so there is no value in studying it in a model like a mouse or a cell. On the other hand, model systems have been used for decades to develop therapies for a myraid of other conditions and disorders, and produced evidence-based treatments for not just autism but conditions from ADHD to schizophrenia. So why is there so much backlash about this line of research? The ASF podcast talks to Jill Silverman at UC Davis to get some perspective.

https://pubmed.ncbi.nlm.nih.gov/35285132

https://www.vox.com/future-perfect/377739/autism-research-mice-lab-models

What do Profound Autism Caregivers Need?

In part 1 of a 3 part series on Profound Autism, ASF interviews Emily Ferguson, PhD from @Stanford shares what she learned by asking parents and caregivers of Profound Autism “what do you need?” The short answer was: “There is No Help“. The responses were overwhelmingly focused on inclusion in any program or service, since they are normally excluded from traditional programs. They also call for better multidisciplinary medical management. Needs were associated with a number of factors. Why talk to caregivers? Their perspectives help identify both research and service priorities in the future.

https://pubmed.ncbi.nlm.nih.gov/38963473

Biology of profound and non-profound autism

Scientists have spent a lot of time trying to understand the biology of autism, unfortunately in the past, scientific studies had everyone with autism lumped together in one group and there are so many differences between people with a diagnosis that any features of the diagnosis itself were hard to detect. In the past, researchers grouped those who are cognitively abled with those who have average or superior intellectual disability, those who are able to express themselves verbally with those who cannot, and those who need 24-hour care with those who can live independently. This week, researchers changed that pattern of lumping all the autisms together by using profound autism as a subgroup and as a way to determine differences across autism subgroups. Researchers at @UCSD examined the cell sizes and the brain sizes of individuals with profound autism and compared them to those with non-profound autism. They found the larger the brain cell, the larger the brain size in different areas, and the more profound the autism. There were differences between profound autism, non-profound autism and typically developing controls. This is just a first step in using different classifications of behavior to understand the neurobiology of ASD and link brain function to autism behaviors, leading to more specific support for those across the spectrum.

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-024-00602-8#Sec26

The true title should be: “A new open source screening tool to help detect autism”

Many of the existing tools to identify autism cost money or are not specific for ASD, and they are hidden behind paywalls and are hard to obtain. A group of scientists led by Tom Frazer at John Caroll University put together a 39 questionnaire called the Autism Symptoms Dimensions Questionnaire to be filled out by parents of children. It’s free and open source! But that’s just the first step. The media got the intent wrong, yet again.

It should not replace a full diagnosis. Autism is complex, and even those with genetic forms of autism show heterogeneity in symptoms. They each need comprehensive evaluations. But this is a good start. Check it out here!!! It’s open source:

References below:

https://pubmed.ncbi.nlm.nih.gov/36670671/

https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.15497

https://pubmed.ncbi.nlm.nih.gov/36639821/

Psychedelics and Symptoms

More and more, psychiatrists are looking to psychedelic medication to help individuals who are resistant to other types of therapies. These include seizures, PTSD and depression. But can they help individuals with autism or ease autism-related problems or improve cognition? Two new studies on cannabis and one on ketamine are summarized in this week’s ASFpodcast. Promising, interesting, but not definitive. It’s a short podcast this week.

https://pubmed.ncbi.nlm.nih.gov/36085294/

https://pubmed.ncbi.nlm.nih.gov/35617670/

https://www.sciencedirect.com/science/article/pii/S2666247722000549?via%3Dihub

Gender difference update

Girls and boys with autism generally show the same symptoms of ASD overall, but what about different aspects of features? What would happen if you studied girls and boys separately and examined detailed assessments of things like motor skills, repetitive behavior, communication or social interaction? These are where subtle signs of differences between genders is showing up. Girls show a higher age of diagnosis, but that depends on cognitive ability. Also, girls with ASD seem to have superior social interaction skills, which reflects normal gender differences. These differences are magnified over time. A new study also looks at Vitamin D levels during pregnancy and outcome in boys vs. girls…..the results are still unclear but interesting.

https://pubmed.ncbi.nlm.nih.gov/33137209/

https://pubmed.ncbi.nlm.nih.gov/33135392/

https://pubmed.ncbi.nlm.nih.gov/33136459/

More ASD links with hormones that are not well-known but are now shown

Oxytocin treatment for social communication in ASD has been recntlyused by doctors, but mostly used by people using it on their own through a nasal spray. Unfortunately, it doesn’t have a huge, if any, effect in randomized clinical trials. This week’s podcast investigates current research in both the oxytocin and vasopressin system in ASD, when changes start, and how oxytocin administration has different effects in autistic women vs. neurotypical women. Once again, clinicians can not assume that what works in people without ASD will work in those with a diagnosis.

https://www.ncbi.nlm.nih.gov/pubmed/32341146

https://www.ncbi.nlm.nih.gov/pubmed/32188502

Where superior ability crosses disability in ASD

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

The extra benefit of caregiver mediated interventions

This week, a new systematic review published by researchers at Virginia Polytechnic Institute looked at the existing evidence around caregiver (parent) mediated interventions and not child outcome, but family relationships and dynamics. While it isn’t the focus on the intervention, what effect does allowing parents to be involved and empowered on their child’s support on the wider family?  The answer is, it does help, although not all interventions are the same.  Also, a new video tool from collaborators at Washington University and the UC Davis MIND Institute to help parents identify early signs and symptoms in their own children was validated, which is exciting but more work needs to be done.

How to get and keep a job – from those that know

There are many different factors that go into successful employment for people with and without autism.  As part of the ASF policy brief on employment, the US, Australia and Sweden held meetings with autistic adults, family members and employers and asked “what are the issues in your words”?  Then they were mapped onto areas of functioning, not ability or disability.  One thing that stands out is “matching interests and skills to job requirements”.  This is important, but a complicated issue.  This week’s podcast reviews what autistic people say, how it maps onto functioning and why we need to be careful about taking a one – sided approach to autism.

https://www.ncbi.nlm.nih.gov/pubmed/31276308

https://www.ncbi.nlm.nih.gov/pubmed/31177369