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.