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From Early Detection to Early Intervention

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This month, two new important research findings were published from scientists that study the very earliest signs and symptoms of autism.  First, Dr. Suzanne Macari at Yale showed that a type of temperament in toddlers was associated with autism at about 3 years of age.  This may be used in the future to develop specialized interventions very very early on.  Meanwhile, Dr. Jessica Brian’s group in Canada used the very early signs of autism – social orienting – to develop a new intervention called the Social ABC’s which they piloted last year.  Last week, a randomized clinical trial of this intervention showed improvements in social smiling, reactions to parents, and social orienting, suggesting it is a feasible and valid intervention option.  There is now a list of these interventions that have been rigorously tested.  This demonstrates that the early detection of features of autism, like temperament, can be turned into interventions to improve the outcome of toddlers with ASD.

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Brain tissue: what has it done for autism lately?

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In order to ensure that researchers have enough brain tissue to understand autism spectrum disorders, the education and outreach campaign is being expanded past families to doctors and professionals that have access to tissue.  One of these groups is neuropathologists.  At their annual meeting this past week in Los Angeles, and entire afternoon was spent dedicated to autism and the features of autism in the brain.  A summary of the presentations is included in this podcast. Speakers emphasized that the way the brain works in childhood is not the same way it works in adulthood, and a study out of UCSD showed that the genes that are affected in children with autism are different than those in adults with autism.  The mechanisms of genes controlling the developing brain vs. those which affect ongoing maintenance are different.  This calls to make sure scientists understand all ages of people with autism, because as the brain changes, so do the needs of people with ASD.

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What treatments are lacking sufficient evidence for autism?

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This week two new publications reported on systematic reviews for nutritional and sensory treatments for ASD.  This means the existing research was sorted, summarized, scrutinized and evaluated.  They found insufficient evidence to show any dietary or nutritional therapy was effective, but sufficient evidence that sensory integration therapy helps people with ASD.  In light of new data on heavy metals found in baby teeth, it’s important to remember that chelation is NOT effective and dangerous.  While “insufficient evidence” does not rule out these interventions forever and always, lots more needs to be done in these areas to conduct rigorous experiments that don’t have any major shortcomings so they hold up to scrutiny.

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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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A new understanding of autism genetics

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Lots of people tend to think of the genetics of disorders or disease about one mutation or genetic variation that is inherited from the mother or the father, that causes a trait directly.  Unfortunately, the genetics of autism isn’t that simple or scientists would have found “the gene” by now.  In fact, there are different types of genetic influences in autism.  A new study in Nature Genetics led by Elise Robinson shows how common variation influences autism risk, as well as intellectual function in autism, compared to de novo mutations.  There is a short primer at the beginning of the podcast about old-school genetic thinking and why it doesn’t apply to ASD.  Below is the picture mentioned.

 

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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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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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Webinar: Investigating gene x environment interactions in “single gene” autisms

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On May 4th, Dr. Janine LaSalle from UC Davis and (the soon to be Dr.) Keith Dunaway presented on recent research investigating the role of environmental factors in individuals with Dup15 Syndrome.  Individuals with a mutation on chromosome 15 are often diagnosed with autism and previously it had been assumed that these individuals were destined to have a diagnosis due to their genetics.  Dr. LaSalle shows that many of the genes in a critical region of chromosome 15 are tied to turning genes on and off via a process called methylation.  Environmental chemicals or other exposures may also work on these genes to turn on or off gene expression epigenetically.  The first half of the webinar reviews crucial ideas in gene x environment interactions and epigenetics, the second half describes experiments using brain tissue of those with Dup15 Syndrome and autism, as well as cell lines, to understand the role of PCBs in gene expression.

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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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Autism symptoms in girls with anorexia

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This week summarizes some new studies looking at autism traits and autism diagnosis in girls with anorexia nervosa.  While the two disorders may seem different on the outset, they do share some behavioral features.  Unfortunately, most studies look at autism in those with anorexia, not the other way around.  However, what is known is that there is not only higher levels of ASD traits in girls with anorexia, about 10% of girls with anorexia also have an autism diagnosis.  This number can only be trusted if you look at both standardized observation instruments AND parental report.  Studies determining the rates of eating disorders in autism are desperately needed for better treatment of symptoms.