The Transcription Factor Song

Very rarely are scientists able to look at single genes within the brains of people across neuropsychiatric disorders and understand how the genes in each of these cells influence expression of proteins and interactions of different cells with each other. Recently, a collaboration called PsychENCODE released a series of papers that investigated what genes are expressed in what cells in autism in different situations, how cells that communicate interact with more support or glial cells, and what mechanisms are in place to identify ways in which the broad environment (chemicals, contextual factors, illness) may influence gene expression leading to disorders like autism, schizophrenia and bipolar disorder. This podcast summarizes these papers as they are related to autism – ore at least tries to.

https://www.psychencode.org/phase-ii

How to predict severe and dangerous behavior

On the first podcast of 2024, we describe a new paper in the Journal of the American Medical Association or JAMA which uses physiological measurements like heart rate and skin conductance to predict severe and dangerous behaviors, specifically aggression. If aggression can be predicted, it might be able to be prevented. It turns out aggression can be predicted up to 3 minutes before an episode occurs, in the future these measures can be used to possibly redirect aggression. In a separate study, the issue of stigma is addressed. There is an intense debate over “person first” vs. “identity first” language in autism, promoting recommendations of using one over the other because fear that person first language promotes stigma against autism. A new study shows that there is no added prejudice or fear using either person first or identity first language, but the stigma associated with schizophrenia is worse than it is for autism. What contributes to stigma? There is a wide range of experiences and perceptions of autism that need to be addressed. It’s not as simple as the language used.

https://pubmed.ncbi.nlm.nih.gov/38127348/

https://pubmed.ncbi.nlm.nih.gov/37965364/

Genetic confounding plus organoids

You heard it in the news this week, and we discuss it on this week’s ASF podcast. Can you make little brains in a dish then make them better by providing them a real structured live neural environment? Can these organoids integrate with a live brain and be functional in vivo? The answers are: yes! Learn more from a new study published this week. Also, what the h**l is genetic confounding and how can it address many of the controversies of genetic vs. the environment? Sometimes genes that predispose to a disorder also predispose to environmental factors leading to that disorder. There is always room for both. Here are the links I promised:

https://www.fhi.no/en/studies/moba/

https://pubmed.ncbi.nlm.nih.gov/35793100/

https://www.nature.com/articles/s41586-022-05277-w

Genes genes all in an order, the ones you have, the greater risk of disorder

This week, a special focus on genetics:  what type, where do they come from, what do these genes do and how do they influence risk of a wide array of psychiatric issues including autism.  The results come from the largest study to date of people with autism as well as those with ADHD, bipolar disorder and schizophrenia.  It’s also the largest study of the Female Protective Effect so far.  Even if genetics does not explain everything about ASD, genetics is important and you deserve to know why.  Below is a graphical abstract of what they found:

 

 

https://www.cell.com/action/showPdf?pii=S0092-8674%2819%2931398-4

https://www.ncbi.nlm.nih.gov/pubmed/31835028

 

Another groundbreaking study thanks to brain tissue

The media accurately described a recent study from Dan Geschwind’s lab at UCLA as “groundbreaking”.  That’s because the findings help people with autism better understand how and why their symptoms are different to other mental conditions, specifically bipolar depression and schizophrenia.  It turns out the gene expression patterns in the brains of people with autism are similar to those with bipolar depression and schizophrenia, but not alcoholism or major depression.   It also offers hope for a more accurate biological signature of autism that can be distinguished from bipolar depression and schizophrenia.    Below is a graph that represents these different profiles, and if you want to read a version of the article that is available online (but before it was peer reviewed in the journal Science) you can find it here: https://www.biorxiv.org/content/biorxiv/early/2016/02/18/040022.full.pdf Gandal

When can you see autism in the brain?

This week the Infant Brain Imaging Study, or IBIS, published it’s 2nd study on the emergence of changes in the brains of individuals with autism.  While red flags for autism can be seen early, a diagnosis of autism is not typically made until after 24 months of age. Using a baby sibling research design, scientists showed increases in the size of certain areas of the brain between 6-12 months.  This opens up opportunities for even earlier diagnosis of ASD in the future.   Also, a group at Stanford shows the emergence and disappearance of co-morbid symptoms in autism, such as epilepsy, schizophrenia and ADHD, which are dependent on sex and age.  Together, these studies show that autism begins very very early and symptoms and behavioral and biological features change over time.