Unfortunately this podcast does not really provide an answer, but does highlight data published over the holidays which shows in another dataset, that the prevalence of autism seems to be leveling out, rather than continue to increase as it has done for the past several decades. It isn’t the final word and clearly there may be exceptions, but now two national datasets have shown no further increase in autism prevalence in the last few years of looking. Is it 1:68 as reported in one study or 1:39 in another? Is it somewhere in between? Still to early to say, but white boys seem to be the most likely to get a diagnosis no matter where you look. Also, folic acid proves to show an effect on the probability of not just an autism diagnosis, but autism symptoms. This is especially important for women taking anti epileptic medications for seizures and bipolar depression. Welcome to 2018!
Here are links to the articles. Some of them are open access!
This week the Interagency Autism Coordinating Committee or IACC, finalized next year’s strategic plan on autism research. This podcast explains what the IACC does, who serves on it, and also, what ideas they have for maximizing use of the research dollar for ASD. It’s a long document and every taxpayer in the US does contribute money towards autism research, so it’s worthwhile to hear what the US government, researchers, stakeholders, service providers and individuals with autism thinks should happen to that money. If you want to read the whole, thing, go for it. You can download it here.
About two weeks ago, the National Institute of Health announced part of the government’s commitment to autism research through the ACE projects, or Autism Centers for Excellence. Highly competitive and intensely scrutinized, these 5 year projects all investigates areas of autism aimed at helping people with ASD and their families. This week’s podcast summaries them, discusses how they interact and complement each other, and explains how they are going to affect the lives of people with autism.
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.
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.
On Thursday, March 30th the Autism Science Foundation held their 4th Annual Day of Learning in NYC. If you were not able to attend and can’t wait for the videos of the talks, this week’s podcast attempts to summarize what was presented.
A list of the talks are:
Autism Research: Where Are We Now? – Dr. Wendy Chung (Simons Foundation)
Housing Options for Adults with Autism – Amy Lutz (EASI Foundation)
Improving Communication Between Parents of Children with Autism and Teachers – Dr. David Mandell (University of Pennsylvania)
Developing Clinical Biomarkers – Dr. James McPartland – (Yale University)
Last week, another Baby Siblings Research Consortium Project (BSRC) published an intriguing finding which also has the bonus of being a replication. Mark Shen, PhD, from the University of North Carolina at Chapel Hill found higher levels of extra axial fluid in the brains of infants who went on to later be diagnosed with autism, and even higher levels in those with severe autism symptoms. Extra-axial fluid is also called cerebrospinal fluid, the fluid that holds the brain steady in your head. Other functions of extra-axial fluid and what this means on how it may contribute to autism risk are described in the podcast. He not only explains the findings, but conveys what families should know about them and how they can help with early identification of ASD.
The year 2016 was eventful for many reasons. In this 20 minute podcast, we review some of the scientific discoveries that highlighted findings in causes, understanding, and treating ASD. Featured more this year is studies on the sibling of individuals with ASD, so we are calling 2016 “The Year of the Sibling” This review includes genetics, gene x environment interactions, diagnosis, the broader autism phenotype, and early interventions and the role of parent-delivered interventions in long term outcome. It also highlights the important role of studying brain tissue from individuals with autism to better understand people with autism across the lifespan, including those with known causes and unknown causes of ASD. We hope you find it informative – please send comments to firstname.lastname@example.org
On early Wednesday morning, the United States woke up to the news that the new president was Donald Trump. While he hasn’t taken office yet, this podcast reviews his statement on his website or in his Contract with America, as well as thing published or stated by him or his campaign on his website or in an interview. The following are covered: health coverage, Medicaid, mental health services, science and the environment, and education. The focus is now the proposed changes and policies could affect families with autism. There is also a special message at the end from David Mandell about how families can deal with the changes ahead. A transcript of the podcast is available here.
In addition to risks of anxiety, ADHD, mood disorders and other psychiatric issues, people with autism (and their siblings) show increased risk of substance abuse issues. This information comes from a large scandanavian registry study that included over 26,000 individuals with ASD. On this week’s podcast I discuss what this means for people with autism and their family members.