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PMS: it’s not what you think

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Last weekend, the Phelan McDermid Research Foundation held their biannual family conference in Dallas Texas.  People with Phelan McDermid Syndrome, or PMS, suffer from seizures and intellectual disability, and about 70% have an ASD diagnosis, Over 150 families from across the world came together to show each other support, learn about housing options, receive genetic counseling, talk to experts and hear the latest research.  ASF attended the meeting and this podcast is a short summary of what was presented by researchers at the conference.  This syndrome is caused by mutations of the SHANK3 gene, which is present in about 1% of people with autism, making it the most common single genetic influence of ASD.  Even if you don’t have a mutation in SHANK3, many of the issues affecting those with PMS may apply to you.  To learn more about the conference, click here:  https://www.pmsf.org/ifc/

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What the Tooth Fairy knows about autism

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A new study uses baby teeth, which are formed in pregnancy and emerge at about 6 months to a year, to understand the dynamics of metals in people with autism.  Not just the levels, but the cycles of zinc and copper, which goes up and down normally with regular biological processes.  This could be the start to many more studies which use baby teeth to understand prenatal and early neonatal exposures in people with autism.  Also, the largest study published so far on food allergies confirmed a higher than normal presence of food, respiratory and skin allergies in people with autism.  Are allergies part of autism?  Probably not, but there seem to be a subgroup of people with immune issues that warrant specific treatments for those allergies.

 

https://www.ncbi.nlm.nih.gov/pubmed/29854952

 

https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2683952

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Commonly used drugs that may help autism

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Sometimes treatment targets come from the places you wouldn’t expect.  This week, three new studies on the biological and sometimes, behavioral, effects of three commonly used compounds used to treat high cholesterol, edema, and angina were studied in people with autism.  Instead of focusing on just the behavior however, these studies took the approach of examining them from the behavioral side, determining if there was a biological reason why these compounds should be helping people with autism.  This means autism research has turned a corner – it’s not just about behavioral improvements, but about how the drug is working in the brain.  Also, a fun study about social media in people with autism.  They don’t just use it like the rest of us, it actually makes people with autism happy.

Here are the studies included in this week’s podcast:

https://www.ncbi.nlm.nih.gov/pubmed/29485900

https://www.ncbi.nlm.nih.gov/pubmed/29484909

https://www.ncbi.nlm.nih.gov/pubmed/29484149

 

https://www.ncbi.nlm.nih.gov/pubmed/29483603

 

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Chromosome 15-apallooza

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One of areas of genetic interest of autism is a region of chromosome 15.  Only about 3% of people with autism have the mutation, but 80% of those with the mutation have autism.  It is so important that people with duplications of this area have formed their own advocacy group called the Dup15 Alliance.  I was honored to attend their family an scientific meeting and give a summary of what scientists have learned about autism through studying this chromosome, how kids with this mutation and autism are similar and different from those with autism but not the mutation, how the families are managing life threatening seizures, what the gene does, what the brains look like, and how mutations of this chromosome do in fact interact with the environment.  Thank you to the scientists who study this area and the very brave, selfless and amazing parents who I talked to.

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The IMFAR wrap-up titled “Heterogeneity in autism: we aren’t going to take it anymore”

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This week’s International Meeting for Autism Research was filled with important presentations on the multiple causes of autism, interventions, diagnosis, neurobiology, services, family and self-advocate perspectives, the list goes on and on.  There is a great recap on www.spectrumnews.org.  An underlying theme ran through the presentations.  That is, that the previous “well, we don’t see differences because there is lots of heterogeneity in autism” explanation isn’t cutting it anymore.  We know people with autism are different, and parents, self-advocates and researchers are starting to deal with it by stratifying groups by their genetic backgrounds.  While not a complete solution to this challenge, research at IMFAR shows that identifying different subgroups based on genetics is helping to explain symptoms.

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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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A new clue to autism found in fluid in the brain

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Last week, another Baby Siblings Research Consortium Project (BSRC) published an intriguing finding which also has the bonus of being a replication.  Mark Shen, PhD, from the University of North Carolina at Chapel Hill found higher levels of extra axial fluid in the brains of infants who went on to later be diagnosed with autism, and even higher levels in those with severe autism symptoms.  Extra-axial fluid is also called cerebrospinal fluid, the fluid that holds the brain steady in your head.  Other functions of extra-axial fluid and what this means on how it may contribute to autism risk are described in the podcast.  He not only explains the findings, but conveys what families should know about them and how they can help with early identification of ASD.

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The infant brain on early behavioral intervention

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The brain is developing even after birth.  So interventions that are given very early have the best chance of remolding and rewiring a brain with autism to prevent autism related disabilities.  This week, a group from the University of London, Duke University and University of Washington measured brain activity during tasks that required social attention following 2 months of very very very early intervention.  They found that the way the brain responded to social stimuli was more like those without an autism diagnosis.  This study shows a biological marker of brain function is altered after behavioral interventions that are intended to do just that – change the way the brain functions.

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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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New science for those with little or no language

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Even though more than 20% of people with autism have little or no language, research into ways to help this group have really been lacking.  Several efforts to not just understand the abilities and disabilities of this group started a few years ago and we are just starting to hear about what works and what doesn’t work to improve communication in those with little or no language.  This podcast summarizes the evidence, which points to combinations of things, rather than things in isolation, and peeks in on ways in which interventions can be better directed and made more effective.