In recognition of epilepsy awareness month, this week we are interviewing Jill Silverman and Nycole Copping from UC Davis who published a paper looking at the causes and consequences of seizures across 3 different strains of mice, which are identical all but their background genetics.  This is important because new animal models of autism are built upon these different background strains, but very little work has been done to really understand how these different tiny changes in genetic background influences response to an environmental factor.  In this study the environmental factor was a drug that produces seizures.  Two out of the three strains showed seizures and all three showed some behavioral after-effects of the seizure – inducing drug.  Therefore, differences in background genetics influenced the outcome of the mice, an effect that is rarely studied.  The authors point out what these behaviors are, what they mean, and why animal models are important for understanding ASD and seizures.

https://www.ncbi.nlm.nih.gov/pubmed/31698263

There are small signs that an exciting finding may actually be “too good to be true”.  Are the differences so big it seems impossible to believe?  Is it hard to replicate?  In a new paper, Dr. Thomas Frazier and colleagues outline what these warning signs are are, and how scientists should critically read scientific findings that might be overreaching.  This week, Dr. Frazier answers some questions about what these flags are, and how families can think critically about scientific findings.

https://www.ncbi.nlm.nih.gov/pubmed/31618104

 

Mental health disorders are a serious problem across the lifespan in people with autism.  This has been shown by over 2 decades of research and further proven by a new meta analysis and a systematic review of the last 25 years of data.  What is the result of these mental health disorder co-morbidities?  Many times, these mental health disorders trigger a crisis situation: the police are called, someone goes to the hospital, may end up hospitalized, and family members are traumatized.  This week’s podcast summarizes the evidence and provides recommendations from scientists to help those with autism and possibly prevent crises from occurring.

https://www.ncbi.nlm.nih.gov/pubmed/31447415 

https://www.ncbi.nlm.nih.gov/pubmed/31652032

Two of the largest randomized control trials of Prozac as an intervention for restrictive and repetitive behaviors were published recently.  They both coincidentally found no effect on the core features of autism, nor clinician rated improvement.  What they did find is a big placebo effect.  That is the behaviors of the participants changed even if they thought they might be getting the medication, but were actually getting an empty pill.  This is a big problem in research in studying medications across mental health.  So why is Prozac so popular?  And when it comes to some features of autism, is the placebo effect so bad?

https://www.ncbi.nlm.nih.gov/pubmed/31638682 

https://www.ncbi.nlm.nih.gov/pubmed/31267292

This week, a little longer #ASFpodcast on a topic that deserves a little extra attention:  screening for ASD.  Some media click-bait driven headlines have made it seem like screening for autism is a waste of time for parents, doctors and care providers.  That’s FAKE NEWS!   We talk to Whitney Guthrie from CHOP and Diana Robins from Drexel about recent studies that cast doubt on common screening tools, why doctors may not be administering them the same way all the time and how that makes a difference, the importance of screening and data that shows that it does help toddlers with ASD maximize their full potential.

This week an important study was released that provides information that parents can use – particularly parents with a child with autism and another on the way or who is an infant.  This of course comes from the Baby Siblings Research Consortium and makes particular observations about families with 2 or more affected children vs 1 affected child.  They have different rates of autism outcomes and trajectories of behaviors that parents and doctors should be aware of.  In addition a new meta analysis of vitamin supplementation shows that while moderate doses of vitamins may not be harmful, they may not also be helpful.  In other words, talk to your doctor about a nutritional plan and assessment, and save your money for things that are known to work.

https://www.ncbi.nlm.nih.gov/pubmed/31589284

https://www.ncbi.nlm.nih.gov/pubmed/31586029

Genetic testing for autism spectrum disorders is not just about finding the gene.  So many genes have been found that genetic testing allows families who have a rare genetic disorder to find each other, support one another, raise money for research and train physicians to better help their community.  While genetic testing isn’t always pushed, it should be.  Autism Science Foundation has organized an initiative called AGENDA (www.alliancegenda.org) to bring together rare diseases associated with ASD.  This is important in moving from discovery to development faster.

https://www.ncbi.nlm.nih.gov/pubmed/31542846

https://www.ncbi.nlm.nih.gov/pubmed/31548702

 

You may have heard of SPARK, it is the largest genetics research project in autism spectrum disorders.  But have they found anything?  Yes!  Pam Feliciano of SPARK discusses what the project is, what a pilot study has found, and how the results might help families with ASD.  In addition, a different but complementary study identified new genes associated with autism.  Given that one of them is a target of environmental factors, it’s time to spark up studies looking at gene x environment interactions as well.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707204/

https://escholarship.org/uc/item/36f811zq

https://www.tandfonline.com/doi/full/10.1080/15592294.2019.1656158

 

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

Scientists study motor skills in early development not just because it is one of the first features to emerge, but because it is predictive of later social communication development, and as it turns out, later expressive language development.   A new study combining data from 2 countries shows that early motor deficits predict language abilities all the way up to age 19, so focusing on early motor skills is imperative for early intervention.  Also this week – a review on why those tiny details in genetics of ASD can be so helpful for people across the spectrum and families.

https://www.ncbi.nlm.nih.gov/pubmed/31429087

https://www.ncbi.nlm.nih.gov/pubmed/31491383