With the International Society for Autism Research underway and a new wave of misunderstanding about scientific evidence in autism, it’s time to think about what is science, how is it conducted, and why does it take so long? Who benefits from science and how? This is just the start, but gives a quick overview of why science matters to families affected by autism.

This week’s ASF podcast returns with a special guest: Dr. Andrew Whitehouse from the University of Western Australia talks about a new unifying theory of the spectrum of autism symptoms and features. It’s called “emergent and transactional”, and while the original author was Dr. Jonathan Green from the UK, Dr. Whitehouse wrote a clear explanation of what it means. He also provides his perspective on the broad spectrum of experiences, feelings and priorities in the autism community and how this new theory might bring together at least some of the views. We also discuss how courage and humility are needed by the entire community to reduce the vitriol.

https://pubmed.ncbi.nlm.nih.gov/37434277/

https://pubmed.ncbi.nlm.nih.gov/37438108/

On Tuesday, the journal Lancet published a 2+ year long endeavor around understanding the heterogeneity of autism not just in features but in access to services for individuals and families across the world. They called for a stepped care to help individualize and prioritize needs in different individuals based on their needs, not their diagnosis. They also called for the label of “profound autism” which describes individuals with very different outcomes compared to those who have a higher verbal and cognitive ability. Recognizing everyone needs supports and help, the “profound autism” label needs different supports, like different employment situations and different living accommodations. Thankfully, to authors, Dr. Catherine Lord from UCLA and Alison Singer from ASF explain the article and the impact they hope it makes on the field.

The article is open access but you have to register to download a copy, here: https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(21)01541-5/fulltext

Two weeks ago, the autism research community lost a pioneer, mentor and advocate for the autism community.  This podcast only highlights a portion of the enormous contribution he made to autism research and the impact his research had on families with ASD.  Also, two people that know him best, one of his current mentees, Suzannah Iadarola and his wife, Jennifer Katz, reflect on his dedication and commitment to families of all ages.  He will be missed.

Some of his more recent papers are here, although just a recent sampling of everything he contributed:

https://www.ncbi.nlm.nih.gov/pubmed/30101320

https://www.ncbi.nlm.nih.gov/pubmed/30009626

https://www.ncbi.nlm.nih.gov/pubmed/29458258

There are relatively few studies using self-report findings on standardized measures from people with autism.  Part of the reason for this is because there aren’t that many of these instruments to begin with.   Scientists are working on that.  But this week, a group from the UK took the existing data from smaller studies using the the Ritvo Autism Asperger Diagnostic Scale (which can be found here:  https://www.aspietests.org/raads/) to look at sex differences.  They found subtle differences between males and females on their language and sensorimotor features.  This indicates males and females experience autism slightly differently.   In addition, a different study interviewed people with autism at different ages to ask how symptoms changed over time and found that features of autism peaked in middle adulthood.  However, close family members, friends or caregivers didn’t always see it that way themselves.  This reiterates the need to collect information from multiple people – including people with autism – to provide better services and supports.

https://www.ncbi.nlm.nih.gov/pubmed/29796237

https://www.ncbi.nlm.nih.gov/pubmed/29971654

In case you didn’t have time to jump on a plane and fly to the Netherlands last week for the International Society of Autism Research meeting, this week’s podcast is a short summary of just a few of the presentations.  There was more of an emphasis on what has been called “real life” research questions like employment, quality of life, and relationships.  As a result, some of the more basic science questions around autism are now being presented at other meetings.  This is a shame.   This podcast follows some of those basic science questions to the now translational opportunities that were presented at the meeting.  It also highlights some newer findings that will provide help to people at all ages who need supports and services.

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!

https://www.ncbi.nlm.nih.gov/pubmed/29297068

https://www.cdc.gov/nchs/data/databriefs/db291.pdf

https://jamanetwork.com/journals/jamapsychiatry/fullarticle/2667432

https://www.ncbi.nlm.nih.gov/pubmed/29279889

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.