Just three days before 2024, ASF provides a summary of the the highlights of scientific discoveries and how they have translated into tools families can use. They include ways to speed up diagnosis and reduce waitlists, study of the brains in females and clinical recommendations for helping autistic females at birth, evidence of better practices around intervention and supports, and a review of the numbers of people who have a diagnosis. It isn’t comprehensive and if something was missed, our apologies, but the summary is 20 minutes.

You can read the text here: https://autismsciencefoundation.org/2023-year-end-review/

Can biomarkers that measure things like visual social attention be a good proxy for an in person behavioral diagnosis? Why would this be important? This week’s podcast explores two new studies the the Journal of the American Medical Association that show a simple device called EarliPoint can be used to shorten the wait times to receive a diagnostic evaluation. Currently autism can be diagnosed at 18 months but most families do not get into an appointment until 4-5 years of age. That can change. Families were able to easily complete it, it predicted things like not just a diagnosis but behavioral features and cognitive ability. It’s been deployed in 6 speciality centers, been approved by the FDA, and hopefully coming to a clinic near you soon.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10481232/

https://pubmed.ncbi.nlm.nih.gov/37668621/

People tend to go towards a “strengths only” or “weaknesses only” approach to describing autism. But even if you think about a single aspect of autistic challenges – social communication – autistics can show both. How can you measure this, and even more importantly, document it to play to someones strengths while addressing their impairments at the same time? Special guests Dr. Matthew Lerner and Jacquelyn Gates from Stony Brook University explain how this can be done by clinicians.

https://pubmed.ncbi.nlm.nih.gov/36573397/

We’ve heard a lot about social robots – do they help? One or two studies are not going to answer this, but a systematic review and meta analysis will! It turns out when you combined all the data, they do help in social abilities, but not other areas. This is how technology can help those with autism, especially technology which can be adapted to address the heterogeneity across the spectrum. And what about more subtle changes in the environment like light, sound, the built environment in classrooms and the home? Are there things that can be done that should be taken into account when these things are being built or modified? Again, a review article can help decipher all of the little studies that have been published over the year. Listen to specific recommendations for builders, architects, and even you as you make your home more autism friendly.

https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0269800

https://journals.sagepub.com/doi/10.1177/13623613221102753?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed

https://lukerosen212.medium.com/the-supreme-courts-decision-impact-on-the-rare-genetic-disease-community-f9ac22bd1411

Sleep is a huge problem in ASD. But is it just “sleep” or can we get more specific? What role do genetics have? And does being autistic make sleep problems worse? Answers come from an unlikely source: mice! Learn more about recent scientific evidence tying sleep problems to ASDs and neurodevelopmental disorders. These include: type of sleep problems autistic people face, why they exist, where they come from, and how mouse models can help solve them.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639428/

https://www.frontiersin.org/articles/10.3389/fpsyt.2020.559694/full

https://pubmed.ncbi.nlm.nih.gov/30737588/

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-021-00426-w

https://pubmed.ncbi.nlm.nih.gov/33549123/

https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62086

There is demonstrated genetic overlap between many neurodevelopment disorders including  ASD, ADHD, and schizophrenia, and now there is data showing similarities in the structure and size of the brains in people with autism and those with ADHD.  These differences depend on how severe social difficulties are, but the similarities are seen with ASD and ADHD, but not OCD.   In addition, this week there are new depressing results from the Interactive Autism Network on unemployment and females with ASD.  The results may not surprise you, but they will upset you.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361977/

https://www.ncbi.nlm.nih.gov/pubmed/30729799

This week, Melissa Scott from Curtin University, a partner in the international policy brief on employment for people with autism, discusses the first paper out of this collaboration:  a scoping review of the existing research out there on employment practices.  Surprisingly, there was one crucial element missing as a focus in all the intervention studies  –  the environment.  Dr. Scott discusses what else was learned from this scoping review, and how the findings can help people with autism not just obtain, but maintain employment, through constructive policy.   ASF is a proud partner on this policy brief, and Curtin University has been an amazing collaborator.

https://www.ncbi.nlm.nih.gov/pubmed/30073870

Is regression a sudden loss of previously acquired skills or is it the gradual decline in a particular area of function?  Using the right tools, both parents and clinicians can document the gaining and loss of skills in different areas, and they agree on what they see.  However, rather than being a single event, regression is slow, starting at around 12 months and showing continual declines through diagnosis.  Thanks to an NIMH day long symposium on the biological causes of regression, scientists got together to discuss this loss of skills on a biological level.  They think that the decline or loss of skills is due to biological events that disrupt the formation of specific brain circuits at critical times in development.  This can be because neurons stop developing, or maybe the brain goes overboard in shaping and pruning back connections.  If you want to see the amazing full day of presentations that aired in 2016, click here:  https://videocast.nih.gov/Summary.asp?file=19500&bhcp=1.  A link to the Ozonoff study described in the podcast is here:  https://www.ncbi.nlm.nih.gov/pubmed/29524310

This week, former ASF fellow Katherine Stavropoulos from UC Riverside and Leslie Carver published data investigating what is the core cause of social communication deficits in autism.  Do people with autism show deficits in this area because they have a lack of motivation for social cues, or are social interactions just too overwhelming on their senses?  It turns out, both are true and this has direct implications for intervention methods.  Also, parents and siblings of people with autism show subtle symptoms of ASD without having a diagnosis.  This is called the broader autism phenotype, and a study by the Study to Explore Early Development led by Dr. Eric Rubenstein, demonstrated that parents of children with a particular group of symptoms are more likely to show this phenotype than other groupings.  You can read the full studies here:

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-018-0189-5

https://www.ncbi.nlm.nih.gov/pubmed/29376397

Often overlooked in intervention studies, it is becoming increasingly clearer that adaptive behavior, the “will do” vs. the “can do” of functioning, should receive more focus.  In people with autism and high IQ, cognitive ability, the “can do” is higher than adaptive behavior, the “will do”.  Why?  The key in new research from the National Institutes of Health may be social abilities.  Another study this week from Children’s Hospital of Philadelphia in adult  with high IQ demonstrates that social motivation may be the key to improving social skills and socialization in people with ASD.