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Memorial Day Memoriam: Isabelle Rapin

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This week, autism lost a pioneer and advocate for autism research:  Isabelle Rapin, MD, a neurologist from New York’s Albert Einstein University.  The first part of the podcast is a brief summary of her accomplishments.  The second part is an study called “how to keep your child out of the hospital”, presenting a recent study which looked at risk factors for being an inpatient, rather than an outpatient.    These risk factors may not be able to be prevented, but hopefully through identification of what they are, situations might be managed to help those with autism and their families during a crisis situation.

 

 

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Internet addiction is a real thing and it is worse in kids with autism

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Two studies of importance came out this week.  The first looked at the interactive effects of genetic mutations called copy number variations and air pollution.  Previously, ozone was not listed in the factors in air pollution that increased risk for autism.  But combine it with copy number variations – now the two together dramatically increase risk.  Ozone levels are something that can be reduced through legislation.  Second, the role of internet addiction is generally not acknowledged or appreciated, but a recent study demonstrated that people with autism show triple the rate of internet addiction compared to those without autism.  This is something that psychiatrists and psychologists should know about when they think about treatments and comorbidities of people with ASD.

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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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Who could have thought the genetics of autism was so complicated?

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On Monday, the much anticipated MSSNG study which analyzed the entire DNA sequence of over 5000 people with autism was published.  The press release can be found here.  In it, the researchers found even more genes of interest to autism.  Also, those with more of a specific type of mutation, copy number variations, had worse autism symptoms.  But of course, the story gets more complicated than just more mutations – worse behavior.  An analysis from a different group of individuals reinforced the role of copy number variations in symptoms, but when they matched the groups according to IQ, the autism symptom profiles were different.  This shows that adaptive behavior  and IQ are important to consider when considering how genetics influence autism symptoms.  Finally, another study shows how important measuring genetics is to understanding environmental factors associated with autism.  Michela Traglia reports that increases in PBDEs in moms of kids affected with autism can be explained by mutations in the gene that breaks down these chemicals.  It’s important to study genetics of autism, but also crucial to know the genetics of the entire family as well.

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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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Putting the pieces together around group social skills interventions

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Individual research studies are great.  But even better is when someone takes these studies and puts them together to see if one study shows the same thing another does, and if they do is the effect size consistent?  Sometimes you can only do this by going old school and pooling the data from the individual studies.   This is especially helpful in determining the effectiveness of different interventions.  This week, Dr. Matthew Lerner and his colleagues at Stony Brook University  published a meta analysis of group social skills interventions.  They put together well-designed studies and asked:  do they work?  Are they better than getting nothing at all?  To find out, listen to this week’s ASF podcast.

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Narrowing down gene and environment interactions in autism

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With hundreds of genes, thousands of environmental factors, and now sex being variables in determining risk for autism, where should science start?  Over the decades researchers have been able to start narrowing down the combinations based on specific behaviors of interest, genes, and mechanisms which may narrow down which gene, which environmental factor and which sex.  Dr. Sara Schaafsma and Dr. Donald Pfaff from Rockefeller University combined the three, and found that epigenetic changes in an autism risk gene called contact in associated protein like 2 contributed to elevation of risk for autism behaviors following maternal infection.  In other words, being male and having the mutation produced small changes, increased by the environmental factor.  In another separate study, Dr. Keith Dunaway and Dr. Janine LaSalle at UC Davis used brain tissue to look at a rare variant for autism on chromosome 15.  Typically, mutations of this area of the genome are thought to cause autism.  However, the effects of these mutations are also increased when environmental factors are present, leading to more de novo mutations.  These are all examples of scientific breakthroughs that are helping better understand what causes autism.  Even when it looks like one thing, it’s multiple things.

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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.

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A message for MLK’s birthday and a better way diagnose anxiety

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Happy MLK day – a day when we recognize a man for his contribution in justice, tolerance, equality and service, I highlight a supreme court case which affects how those with special needs are fighting for justice and equality.   Also, over the holidays, Dr. Connor Kerns from Drexel University published how a new tool to diagnose anxiety in those with autism was validated, setting the stage for its use by physicians and clinicians who don’t have a lot of experience with autism to help better understand the symptoms of their patients.