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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 Young and the Deaf: the relevance to language development in autism

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This week two important studies which examine early influences of language development are explored.  First, we are lucky that Dr. Aaron Shield from Miami University joined to explain why studying children who are deaf and have autism, as well as parents of deaf children, are important for understanding language development.  He explores how autism is different and the same in those who are and are not deaf.  Second, study of very early speech, even before language emerges, may help guide speech and language therapists about how they should be dividing their time in therapy in toddlers, especially those with a high probability of developing ASD.  Thank you to both Drs. Shield and Chenausky for sharing their findings with us!

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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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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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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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Hip hip hooray for toddler interventions for autism

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As always, good news and bad news in autism this week.  First the good news:  an intervention given between 9-14 months of age in children with a high probability of having an autism diagnosis improved autism symptoms at 3 years of age.  Now the bad:  mothers who experience severe childhood abuse are more likely to have a child with an autism diagnosis.  Why?  A new study explains it might have a lot to do with autism traits in the parents.  We would love to hear your thoughts on the results, please provide them in the comment section.

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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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Why is it so hard to look them in the eye?

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There is an ongoing debate about why people with autism avoid eye contact.  There is data to support both, but as this behavior emerges very early, it’s important to look at data from preverbal children to understand the origins of changes in eye contact.  Many scientists also feel that avoiding eye contact snowballs over the lifespan and deprives people with autism from developing social skills.  Infants don’t even know why they avoid eye contact so at the Marcus Autism Center in Atlanta, researchers are using eye tracking technology to answer this question.  The findings have clear implications for early intervention strategies.

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Brain signals improve the efficacy of behavioral interventions

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Biomarkers can help distinguish different types of features but this week they were used to predict who would respond to Pivotal Response Training, or PRT.  Researchers, led by Pam Ventral at Yale looked at how the brain responded to a social or non social situation as well as baseline features on standardized measures.  Remarkably, these brain signatures were better at standard behavioral assessments at determining who would respond most positively to PRT.  This study has enormous implications for personalized medicine approach and demonstrates how early studies in biomarkers many years ago have paid off for those with autism.

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Precision medicine presents: OXYTOCIN!!!

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Overall, the scientific research examining the efficacy of oxytocin treatment in autism spectrum disorder has been mixed.  On a previous podcast, studies in the way the oxytocin receptor was turned on and off were explained which may account for variability in treatment response.  This week, two studies in Japan show that specific mutations in the oxytocin receptor product predict who will respond to oxytocin treatment and who will not.  Therefore, the oxytocin story is one of the first examples of using genetic findings to push better treatment on an individual level, otherwise known as precision medicine.