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.
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.
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.
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!
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.
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.
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.
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.
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:
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.
I discuss this second project with Jill Escher, founder of the Escher Fund for Autism and co-funder of the study.
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.