Why study brain tissue to understand autism?

This week’s podcast is a throwback from a few months ago which highlighted research using brain tissue of individuals with ASD.  To understand the brains of people with autism, researchers need to look at the brains of people with autism.  This means people with autism and their families need to learn more about this option so they can be prepared when the time comes.  Listen to the podcast to hear how brain tissue research is helping scientists understand autism better, and making a difference in the lives of people with autism now.

It’s not about THC, it’s about CBD (cannabinoids)

Parents of children with seizures are desperate to find something that will at the very least reduce the frequency of seizures in their kids.  Answers came in an unlikely place two months ago with the publication of a randomized clinical trial showing that seizures could be reduced with use of cannabinoids in kids with a condition called Dravet’s Syndrome.  Cannabinoids are one of the chemicals found in marijuana, and there are anecdotal reports on the use of marijuana or cannabinoids to treat autism.  Unlike THC, CBD (cannabinoids) do not cause euphoria or any psychoactive effects and are used exclusively for medicinal reasons.  This podcast summarizes current literature and also explains why it is so hard to study cannabinoids, including federal and state regulations and what needs to happen to open up this field of science

Chromosome 15-apallooza

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.

Post zygotic mutations in autism: what you need to know

Yes, another type of mutation in autism was revealed this week.  Those that are evident after the sperm and egg meet to form the zygote but still very early, during embryonic development.  Because it occurs after the original zygote is formed, the mutation is not found in every cell or every region of the body, called post-zygotic.  A collaboration of three major genetic consortia studied and collaborated on these types of mutations and revealed that they consist of about 7.5% of all de novo mutations in people with autism.  They affect autism risk genes and selectively target brain regions associated with autism.  Learn more about what this means for family planning and cognitive ability in people with autism.

A different type of autism?

Last week, investigators with the Autism Treatment Network published a long awaited study on the differences between the DSM IV and DSM5.    Other studies had relied on information on old pieces of paper to judge whether or not someone who met criteria under DSM IV would be now diagnosed with DSM5 criteria.  This study, on the other hand, used in person evaluations of over 400 individuals with autism.  PI from the Missouri site and lead author of a new study, Dr. Micah Mazurek was gracious enough to provide a summary of the findings in the podcast.  A quick preview:  they showed differences in the diagnosis in the group previously known as PDD-NOS.  Is this a new type of autism?  Their symptoms were less severe and they had normal IQ ability – do they have a subtype of autism or a new form of ADHD?  This study isn’t the first to suggest using different categories of symptoms of autism like DSM IV did, and indicates that the new criteria of the DSM  5 are more specific.  In addition, a 2 minute summary of all the great presentations at the Autism Society of America is given.  Totally insufficient to describe everything that went on, but it’s a start.

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

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!

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

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.

The Benefits of Being and Older Father

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.

From Early Detection to Early Intervention

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.

Brain tissue: what has it done for autism lately?

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.