What is the problem getting to the bottom of biomarkers and gene x environment interactions

Outcome measures for clinical trials and understanding and determining gene x environment interactions have been two (of many) challenging questions for scientists. In the first study, we explain a new study that looks at the feasibility of three potential biomarkers that have the potential to look at presence of a diagnosis as well as effectiveness of an intervention. In the second half, we describe some new research that shows novel approaches to better understand the presence of an environmental factor with genetic influences, or a new method to describe them in different communities. You can read the studies by clicking below:

https://pubmed.ncbi.nlm.nih.gov/36000217/

https://pubmed.ncbi.nlm.nih.gov/35974006/

https://pubmed.ncbi.nlm.nih.gov/35992618/

Cognitive ability in ASD: why it matters

Not all people with autism spectrum disorder are the same, obviously. Are there things that can predict positive outcome? Are they different based on something like cognitive ability? And what determines cognitive ability and how early is it seen? Have other studies lumped all the autisms into one pile which has represented what people along the spectrum at different points actually need? This podcast tackles it all this week.

The autism brain at 3 months old

Biological features of ASD can be seen long before behavioral impairments in children are seen. Researchers are now studying the activity of the brain at 3 months in infants that go on to develop autism and those that do not. There are distinct features in the brain seen in a 3 month old that goes on to develop ASD. In addition, excessive brain activity resulting in seizures can increase the probability of a later ASD diagnosis in infants with a rare genetic disorder called Tuberous Sclerosis. This podcast will explain how connectivity and activity in a 3 month old can influence a later diagnosis. What we don’t know more about is those intervening months, and what can be done to mitigate symptoms.

https://www.sciencedirect.com/science/article/abs/pii/S2451902220301403?via%3Dihub

https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.51128

The latest on marijuana and autism across the globe

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/

 

 

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

Genes and Environment, Genes and Environment. Go together like aging and retirement.

Twins with autism, where either one or both is diagnosed, is crucial to understand the role of genetics and the environment to both autism diagnoses and now, autism traits.  In a study this week, researchers using data from the California Twins Study examined the genetic and environmental influences of brain development in multiple regions and measures.  While estimates of genetic and environmental influences can only be modeled in twins, they can be experimentally tested in animal models.  Researchers at the University of Washington investigate what causes the link between air pollution in humans and autism by studying diesel fuel exhaust in pregnant mice.  Finally, across all of these disparate animal studies – does anything pull them together.  Are these models all one-offs or do they have anything in common?  It turns out disruption in normal brain activity is one thing that they have in common, and something that is at the common core of ASD neurobiology.

 

https://www.ncbi.nlm.nih.gov/pubmed/30659287

https://www.ncbi.nlm.nih.gov/pubmed/30668980

https://www.ncbi.nlm.nih.gov/pubmed/30679017

 

Can IGF-1 treat autism symptoms? A clinical trial aims to find out

A full transcript of this podcast episode can be read on the ASF blog here.

Researchers at Mount Sinai led by Alex Kolevzon are running a clinical trial of the compound insulin-like growth factor 1 (IGF-1) for children with idiopathic autism. Dr. Kolevzon’s team previously demonstrated the safety and feasibility of IGF-1 in treating Phelan-McDermid syndrome, a single-gene form of autism. Particularly, the IGF-1 treatment improved symptoms of social impairment and repetitive behaviors, which are core symptoms of autism. Expanding their investigation into idiopathic autism, the researchers are working hard to make sure families can comfortably and knowledgeably participate in the clinical trial. Mahir Rahman spoke with Dr. Kolevzon about the study and where it hopes to go. Interested in joining the study? Go here to learn more.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326443/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450831/

The causes of social communication deficits in ASD

This week, former ASF fellow Katherine Stavropoulos from UC Riverside and Leslie Carver published data investigating what is the core cause of social communication deficits in autism.  Do people with autism show deficits in this area because they have a lack of motivation for social cues, or are social interactions just too overwhelming on their senses?  It turns out, both are true and this has direct implications for intervention methods.  Also, parents and siblings of people with autism show subtle symptoms of ASD without having a diagnosis.  This is called the broader autism phenotype, and a study by the Study to Explore Early Development led by Dr. Eric Rubenstein, demonstrated that parents of children with a particular group of symptoms are more likely to show this phenotype than other groupings.  You can read the full studies here:

 

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-018-0189-5

https://www.ncbi.nlm.nih.gov/pubmed/29376397

 

Gamma waves and autism brains

Gamma waves are brainwave activity at a certain speed and have been linked to consciousness and seem to help coordinate activity in different parts of the brain.  They have also been associated with processing of information, including sensory information.  This week, researchers at Oxford University led by Dr. David Menassa explore gamma waves in the brains of autistic adults who perform better on a visual processing task than those without a diagnosis.  Gamma waves are controlled by the coordinated activity of neurons in the brain, which are regulated by inhibitory interneurons which make sure excitatory neurons aren’t taking over.  In a study using brain tissue of people with autism, it was found by another study at Oxford that there are fewer of these inhibitory interneurons to control this activity.  Dr. David Menassa provides his own interpretation of the data on this week’s podcast.