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A 4th of July quickie on new data for treatment of autism symptoms

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Happy 4th of July weekend.  This week’s podcast is devoted to the studies in the past few months focusing on autism treatments that didn’t make it into the regular weekly roundup.  They include data that shows promising results (peer networks and iPads) as well as those that didn’t do as well as hoped (social skills).  There were also some that showed that some therapies just don’t have any good studies to show definitively if they are helpful or not.  Take 8 minutes before the fireworks and listen to the latest on interventions of ASD.

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The Benefits of Being and Older Father

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Advanced paternal age is one of the more replicated risk factors for autism – but maybe not autism as it as seen as a disorder.  Recent studies by Mount Sinai School of Medicine and Kings College of London show in both animal models and in epidemiological studies that advanced age in fathers is associated with the “active but odd” phenotype and PDD NOS.  In people, older (but not “old”) age in fathers led to increased IQ and social aloofness that led to higher academic achievement.  Is this autism?  Or just a subtype of autism where the outcomes are adaptive rather than maladaptive?  There are lots of questions about the nature of autism in these findings.

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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.