Posted on

Nobody ever talks about catatonia

Podcast: Play in new window | Download

Subscribe: RSS

Nobody ever talks about catatonia in autism. This podcast explores the symptoms of catatonia, how to measure it, what parents should know about tracking the symptoms, what the treatments are, and what the causes are. Dr. Martine Lamy from Cincinnati Children’s Hospital explains her work looking at genetic causes in those with catatonia and neurodevelopmental disorders. It’s important to do genetic testing on all individuals who present with catatonia because this information led to better treatments in some people. Identifying a genetic cause of not just catatonia but also neurodevelopmental disorders like ASD gives families a community but also allows them to identify more targeted interventions.

https://pubmed.ncbi.nlm.nih.gov/37864080/

https://pubmed.ncbi.nlm.nih.gov/37642312/

https://pubmed.ncbi.nlm.nih.gov/36708735/

https://globalgenes.org/rare-disease-patient-services/

Posted on

Little Brains Answer Big Questions

Podcast: Play in new window | Download

Subscribe: RSS

This week we talk to Sergiu Pasca from Stanford University. He has revolutionized the field of understanding the field of brain development in neurodevelopmental disorders and just published a new study which examined the genetic influence of brain assembly. The way he does this is quite remarkable. His lab uses assembloids, which are many many many stem cells which form into a tiny brain. He explains what an interneuron is, why it is important for brain function, and how genetics can influence how these neurons work. This way the development of the brain from the first cell can be tracked and even manipulated to understand what happens in autism, and what therapies might be the most helpful to target these interneurons. Thank you Dr. Pasca.

Open access! https://pubmed.ncbi.nlm.nih.gov/37758944/

Posted on

Top reasons to study the autistic brain

Podcast: Play in new window | Download

Subscribe: RSS

There are dozens of good reasons why scientists need to study the brains of people with autism. One is to understand what happens in the brain as people with autism get older and see how the brain changes over time. Another is to identify mechanisms of autism to help all neuroscientists figure out how the brain works. A third is improve medicine by determining what helps what people at what age. Scientists @UCDavis, @Penn and @UCLA examined the individual brain cells of people with autism to address these three questions, revealing that the autistic brain shows some similarities to brains of people with Alzheimer’s Disease. In addition, inflammation seen in the brain may be caused by too much activity of cells talking to each other. Studying the brains of people with autism is essential to better understanding and is made possible by families who are committed to research. www.autismbrainnet.org.

https://pubmed.ncbi.nlm.nih.gov/36862688/

Posted on

The full semantic toolbox referring to autism

Podcast: Play in new window | Download

Subscribe: RSS

Last week a publication (see below) was published as a commentary in the journal Autism Research. It states that researchers, parents, clinicians, educators and the overall community should not be limited in their use of language to describe the broad condition of autism. Some people experience impairments, deficits, and have limitations. Not only is it true, we should be talking about it. This podcast describes the motivation for the paper and the potential consequences of mandating the use terms that may not accurately reflect the diversity of experiences. While some papers have been published with the opposite sentiments, it’s important to understand both sides of this debate. We hope this paper leads to further conversation about this topic.

https://onlinelibrary.wiley.com/doi/10.1002/aur.2876

Posted on

The molecular signature of the autism brain

Podcast: Play in new window | Download

Subscribe: RSS

Is there a specific “signature’ that make the autism brain unique? Can there be a common set of findings that certain gene expression goes up and another go down and where? And is it linked to behavior? This week, Dr. Michael Gandal at University of Pennsylvania (formerly UCLA) explains his recent findings that looks at the largest number of brain tissue samples so far from multiple brain regions to show a common up regulation of immune genes in the brain and a common down regulation of genes which control synapse formation and neuronal communication. It is most pronounced in areas involved in sensory processing of the brain. You can listen to the podcast today and read the whole paper here:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668748/pdf/41586_2022_Article_5377.pdf

Posted on

Environmental factors as both causes and interventions?

Podcast: Play in new window | Download

Subscribe: RSS

Environmental exposures, including toxic chemicals, can contribute to the causes of ASD. But how do other environmental factors, like behavioral supports, work in the brain to improve behaviors associated with ASD? For this, you need a broad interpretation of the term “environmental” and an animal model so you can see the mechanism involved. Studies show while environmental factors can contribute, they can also provide modifications in cellular and molecular function which support learning and improved developmental trajectory. Finally, on a different topic, are autistic adults more likely to be involved in a crime compared to other groups? No, they are not, but there are factors which affect the risk of being involved with the criminal justice system, at least in the UK. Read more in the studies below.

https://pubmed.ncbi.nlm.nih.gov/34972219/

https://pubmed.ncbi.nlm.nih.gov/35259351/

https://pubmed.ncbi.nlm.nih.gov/35261275/

Posted on

Don’t say “….all autistic adults”

Podcast: Play in new window | Download

Subscribe: RSS

While there are commonalities across autistic adults on many things, they differ. It might be time to stop saying “…..all autistic adults” when describing those on the spectrum. For example, for the most part, most autistic adults prefer email or text over other methods except when talking to friends and family. It was not universal, but the most preferred methods. This is important for scientists to want to gather the input from autistic adults – use email and online surveys NOT the telephone. But even these online surveys have problems. Large online research studies have the advantage of gathering large sets of data from geographically diverse people in a short period of time, but they may be biased if they don’t report who answered them. Recommendations for how to at least deal with diversity in scientific literature is included.

https://pubmed.ncbi.nlm.nih.gov/34169750/

https://pubmed.ncbi.nlm.nih.gov/34169230/

Posted on

What the h**l is an induced pluripotent stem cell?

Podcast: Play in new window | Download

Subscribe: RSS

The words “induced pluripotent stem cell” refer to a group of cells that are gathered from a person with a disorder, like autism, then changed or “induced” from a skin cell into an embryonic “stem” cell, and can be then made into baby brain cells, or baby heart cells or baby bone cells. This makes them “pluripotent”. This tool has been used in neurodevelopment disorders to help illustrate when the wiring of the brain starts to go off course. Things start to happen very early after conception and one of the only ways to study these things is by using either embryonic cells or these induced embryonic “stem cells”. The latter is more cost effective and more precise. This technology has an incredibly high potential in understanding autism, but it may never be used as a treatment. Nevertheless, knowing how and when brain development deviates is essential for understanding people with ASD.

https://link.springer.com/content/pdf/10.1007%2F978-3-030-45493-7.pdf

Posted on

The latest on marijuana and autism across the globe

Podcast: Play in new window | Download

Subscribe: RSS

Since the ASF policy statement on marijuana for the treatment of ASD was published this summer, there have been some new scientific studies that may be of interest to families.  As it turns out CBD has opposite effects in the brains of people with autism compared to those without autism, meaning that it is absolutely essential that more research is done specifically in people across the spectrum in ASD.  Also, early studies in Israel and Brazil are showing some positive effects on behavior, but they are open label non controlled compassionate use basis studies, which in encouraging, but the science needs to be more rigorous and more studies need to be done in people with autism using standardized autism assessments if any progress is to be made.  Luckily a new study at NYU is enrolling for just that approach.  Please contact Latoya.King@nyulangone.edu if you want to learn more about that.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732821/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6784992/

https://www.ncbi.nlm.nih.gov/pubmed/31736860

https://www.ncbi.nlm.nih.gov/pubmed/30382443

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336869/