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A different type of autism?

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Last week, investigators with the Autism Treatment Network published a long awaited study on the differences between the DSM IV and DSM5.    Other studies had relied on information on old pieces of paper to judge whether or not someone who met criteria under DSM IV would be now diagnosed with DSM5 criteria.  This study, on the other hand, used in person evaluations of over 400 individuals with autism.  PI from the Missouri site and lead author of a new study, Dr. Micah Mazurek was gracious enough to provide a summary of the findings in the podcast.  A quick preview:  they showed differences in the diagnosis in the group previously known as PDD-NOS.  Is this a new type of autism?  Their symptoms were less severe and they had normal IQ ability – do they have a subtype of autism or a new form of ADHD?  This study isn’t the first to suggest using different categories of symptoms of autism like DSM IV did, and indicates that the new criteria of the DSM  5 are more specific.  In addition, a 2 minute summary of all the great presentations at the Autism Society of America is given.  Totally insufficient to describe everything that went on, but it’s a start.

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What is the focus this week? The unsung heroes of grandparents and clinicians

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Scientists have studied males compared to females with autism, but rarely has there been studies about what clinicians see as differences in these two groups.  Given that they provide insight on diagnosis, needs and access to services, it is kind of important to talk to them, and a study out this week in the journal Autism did just that.  You can find the full text here:

http://journals.sagepub.com/eprint/V5p3isSVAKDbdQf2jH4Q/full

Also, scientists are starting to understand the role of exposures in parents and how they affect diagnosis of autism in their children, but this week a new wrench was thrown into the wheel:  researchers in the UK found that grandparental exposures play a role in autism diagnosis too.  Luckily, this too is open access and you can read it for yourself.  It was covered in the media and we have perspective from a parent included.

https://www.nature.com/articles/srep46179

I discuss this second project with Jill Escher, founder of the Escher Fund for Autism and co-funder of the study.

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The ASF Day of Learning Recap

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On Thursday, March 30th the Autism Science Foundation held their 4th Annual Day of Learning in NYC.  If you were not able to attend and can’t wait for the videos of the talks, this week’s podcast attempts to summarize what was presented.

A list of the talks are:

  • Autism Research: Where Are We Now? – Dr. Wendy Chung (Simons Foundation)
  • Housing Options for Adults with Autism – Amy Lutz (EASI Foundation)
  • Improving Communication Between Parents of Children with Autism and Teachers – Dr. David Mandell (University of Pennsylvania)
  • Developing Clinical Biomarkers – Dr. James McPartland – (Yale University)
  • Understanding Modifiable Autism Risk Factors – Dr. Craig Newschaffer (Drexel University)
  • Helping People with Autism Develop Practical Skills – Dr. Celine Saulnier (Emory University)
  • New Technologies to Improve Autism Diagnosis – Dr. Robert Schultz (Children’s Hospital of Philadelphia)
  • Understanding the Female Protective Effect – Dr. Donna Werling (University of California, San Francisco)

David Mandell’s presentation on parent/teacher communication was based, in part, on this publication:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676744/

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To see differences in the brains of males and females with autism, you have to look at the brains of males and females with autism

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Last month, UC Davis researcher Cyndi Schumann used resources for the Autism BrainNet to look at what causes differences in the rates of diagnosis between males and females.  Consistent with other studies on this topic, males and females don’t show differences in the rates of autism genes, but rather in the way that the brain controls other genes that code for things like neuroinflammation and development.  Clearly more studies are necessary but it is consistent with the Female Protective Effect in autism.  The full text can be found here:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294827/

And also, there was a study on genital herpes and autism that CNN got totally wrong.

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When can you see autism in the brain?

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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.

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And now….the 2016 year end summary of autism science

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The year 2016 was eventful for many reasons.  In this 20 minute podcast, we review some of the scientific discoveries that highlighted findings in causes, understanding, and treating ASD.  Featured more this year is studies on the sibling of individuals with ASD, so we are calling 2016 “The Year of the Sibling”  This review includes genetics, gene x environment interactions, diagnosis, the broader autism phenotype, and early interventions and the role of parent-delivered interventions in long term outcome.  It also highlights the important role of studying brain tissue from individuals with autism to better understand people with autism across the lifespan, including those with known causes and unknown causes of ASD.  We hope you find it informative – please send comments to ahalladay@autismsciencefoundation.org

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The potential role of epigenetics in the sex differences in autism

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On Tuesday November 15th, Tracy Bale from University of Pennsylvania provided an insightful analysis of sex differences in behavioral, physiological and molecular outcomes following prenatal stress.  She outlined the potential epigenetic markers that may lead to resilience in female offspring which has direct implications for autism.  However, prior to Dr. Bale’s presentation, Donna Werling from UCSF briefly outlined the genetic and behavioral data so far about females with autism and why there is a 4:1 ratio in males to females getting a diagnosis.  This webinar is part of the Environmental Epigenetics of Autism Webinar Series co-organized by Autism Science Foundation, Autism Speaks and the Escher Family Fund for Autism.

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Where are all the girls with autism? Live from the Seaver Center Conference

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Hear what you missed if you were unable to attend the Seaver Autism Conference on September 25th!  Dr. David Skuse discusses “where are all the girls with autism”, summarizing evidence that some girls with high verbal IQ and autism might be missed, suggesting genes associated with high IQ may be protective against a diagnosis until adolescence.  Also, ASF grantee Dr. Jennifer Foss-Feig describes how biomarkers can be used to improve personalized medicine.  Finally, a summary and review of the new air pollution systematic review and meta analysis.  Limited evidence does not equal none, and air pollution is a real problem.  Here is a link to the paper:  http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161851.  All in 12 minutes.

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How early do females with autism show differences?

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Using high risk baby siblings research design, scientists at Yale University showed that as babies, girls with autism show an unusual pattern of social attention for their age, spending most of their time looking at faces.  This is in stark contrast to findings in boys.  Together with other data, the authors conclude that this early social behavior may mitigate, or protect against, the symptoms of ASD later on in life.

In the second half of the podcast, the new supplement to the journal Pediatrics is summarized, which includes important new guidelines and recommendations that affect people with autism.  As promised, here is the link so you can see for yourself.