Podcast: News from the International Society for Autism Research Meeting, 2025

This year’s International Society of Autism Research Meeting was filled with great presentations about causes, diagnosis, interventions, mechanisms, supports, understanding sex differences and different populations of those with autism. But not everyone could fly to Seattle to attend. This week’s podcast episode provides a short summary of just some of the science presented. Michael Lombardo provided a keynote that included data from his research included on this podcast: https://blubrry.com/asfpodcast/137452290/factors-that-influence-heterogeity-and-how/

If you would like a copy of the INSAR program book, email me at ahalladay@autismsciencefoundation.org. Sorry, it’s too large to attach in the summary!

Today’s #ASFpodcast explains the potential and the unknowns behind folate, known as leucovorin when prescribe, for treating autism. CBSNews reported on a “miraculous” study using leucovorin that will need further research before it lives up to the type. However, it is an example of how different biological markers may direct what treatments work best in what people, and possibly an example of precision medicine in ASD. Second, more of the mystery of the male/female diagnosis difference in ASD. How do genetics affect liability in males and females? It’s been well established females have more of a certain type of genetic variation, but females are less likely to be diagnosis. New results show that the liability for autism is the same in males and females (both are just as likely to receive a diagnosis based on their genetics), however these two sexes may have a different threshold for an autism diagnosis. Females may need more of these mutations to receive an autism diagnosis. Read more below:

https://link.springer.com/article/10.1007/s00431-024-05762-6

https://pubmed.ncbi.nlm.nih.gov/27752075

https://pubmed.ncbi.nlm.nih.gov/39954678

On this week’s podcast, Dr. Elaine Clarke from @RutgersU discusses the role of adaptive behavior. This refers to the wide range of skills that a person with autism can exhibit. Can they hold a conversation? Dress themselves? Prepare a meal? These sets of skills are strongly influenced by cognitive ability. Dr. Clarke will talk about the link between cognitive ability and adaptive behaviors and while there may be differences in the abilities across the spectrum, it means clinicians and families need to aim for what works best for their individual child. Read more below:

https://pubmed.ncbi.nlm.nih.gov/38317766

https://pubmed.ncbi.nlm.nih.gov/39679971

https://pubmed.ncbi.nlm.nih.gov/39056304

Two therapies that are meant to alter brainwave activity, called Transcranial Magnetic Stimulation and Transcranial Direct Current Stimulation are receiving a lot of attention for potential efficacy in treating autism. They are non-invasive, which means treatment is provided on the scalp. While results vary, the overall evidence does not support these two interventions in helping to treat core autism features. However, as TMS is approved for depression and OCD, people should ask their doctors about these potential treatments if they suffer from these conditions. Learn more in this week’s episode and in the articles below:

https://link.springer.com/article/10.1007/s00787-024-02635-z

Click to access nihms-1934887.pdf

https://academic.oup.com/cercor/article-abstract/34/13/8/7661139?redirectedFrom=fulltext&login=false

Schools are the main provider of behavioral health services in the United States (US). Conducting research in schools may help increase access for autistic youth, but there is limited research about who participates in school-based autism research. The researchers examined data spanning 14 years of participation in school-based autism research. All data were collected in the US. Researchers found that in this sample, more than half of the youth identified as racial/ethnic minoritized (REM) youth. However, demographics of sampled youth were significantly different than expected, based on publicly available school-based population demographics. More youth identified as White non-Hispanic than would be expected in those schools. Majority of the sampled educators also identified as White non-Hispanic. High percentages of autistic REM youth suggest school-based autism research may be an effective way of providing services to more diverse populations. However, sampled schools were also not representative of a US national sample, with sampled schools having fewer White non-Hispanic youth than would be expected from US national statistics. Complexity around representation of schools sampled and demographics of service environments suggests a need for more research.

Objectives: Individuals with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), often experience a higher prevalence of gastrointestinal (GI) symptoms but have complex medical and behavioral comorbidities that make diagnosis and treatment difficult. A multi-stakeholder conference was convened to (a) determine patient and family experiences related to GI symptoms in NDDs, (b) review the clinicians’ and researchers’ perspectives, and (c) determine actionable steps for future research.

Methods: The Consortium for Autism, Neurodevelopmental Disorders and Digestive Diseases (CANDID; www.candidgi.com) virtually over 2 days in 2022 and consisted of four key activities: (1) an electronic family survey to assess underlying NDDs and GI symptoms, (2) a session focused on family perspectives, (3) review current clinical care and research, and (4) discussion to identify key next steps. Survey results were obtained electronically via the REDCap platform, and descriptive statistics were generated. The sessions were recorded, and themes were identified.

Results: The pre-conference survey ran for ~2 months and 739 families provided responses, with 634 completing all items. 83% had a child with an NDD under age 18, and most patients were White (85%) and non-Hispanic (87%). Constipation (80%), GI reflux disease (51%), and bloating (49%) were the most frequently reported symptoms. Families gave unstructured feedback that the measures used in the surveys were often difficult to answer for patients with NDDs or who were nonspeaking. Family and clinical/scientific sessions identified several common themes, including (1) the need for less invasive diagnostic modalities, (2) the need to validate or adapt existing diagnostic measures (e.g., the Rome IV criteria) and outcome assessments, and (3) the need for enhanced attention to parent and caregiver input in treatment plans.

Conclusions: Those providing care to children with NDDs, especially those with communication and cognitive challenges, should be aware of the differing needs in this community and consider family perspectives in managing, treating, and measuring GI issues. Future research should focus on adapting or creating diagnostic and research measures for those with NDDs, developing new diagnostic methods to account for diversity in neurodevelopment and communication, and improving methods for family and caregiver engagement in the care of GI disorders.

Profound autism refers to a subset of individuals with autism spectrum disorder who have an intellectual disability with an intelligence quotient less than 50 and minimal-to-no language and require 24-hour supervision and assistance with activities of daily living. The general pediatrician will invariably work with autistic children across the spectrum and will likely encounter youth with profound autism. Awareness of profound autism as a real entity describing autistic children with concomitant intellectual disability and language impairment who require 24-hour care is the first step in developing a solid pediatric home for these youth.

Instead of grouping together people with autism based on traditional severity scores, what if groupings were done based on functional outcome? Would this help better understand the broad spectrum of autism and why some people with autism are so different than others? Researchers at the University of Minnesota led by Kyle Sterrett, together with UCLA and UNC utilized a study that followed children with autism in the early 1990’s into their adulthood, in the 2020’s. They created and asked these families a set of questions (included in the manuscript below) to help identify levels of functioning in people with autism. This was done to help them and their families get the right support at right time. They found that these questions could differentiate people with Profound Autism based on things like level of independence and safety concerns. Dr. Sterrett talks with us on this week’s podcast to explain what they did and why it is so important.

https://pubmed.ncbi.nlm.nih.gov/39031157

In part 1 of a 3 part series on Profound Autism, ASF interviews Emily Ferguson, PhD from @Stanford shares what she learned by asking parents and caregivers of Profound Autism “what do you need?” The short answer was: “There is No Help“. The responses were overwhelmingly focused on inclusion in any program or service, since they are normally excluded from traditional programs. They also call for better multidisciplinary medical management. Needs were associated with a number of factors. Why talk to caregivers? Their perspectives help identify both research and service priorities in the future.

https://pubmed.ncbi.nlm.nih.gov/38963473

On this week’s podcast episode, more on genetics as an influence to an autism diagnosis with a twist: can genetics lead to a specific treatment for core symptoms – across the board? How do you measure such broad symptoms? Our Rett Syndrome family friends and colleagues developed a novel outcome measure to capture what was most important to them, and the FDA approved it for use in a clinical trial. Years later, a new drug was approved that led to a reduction in behaviors associated with Rett Syndrome. Autism can take a lesson from this. In addition, can the genetics of autism be explained by parents with similar phenotypes? This is called assortative mating. The answer is complex.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10450502/pdf/fped-11-1229553.pdf

https://www.nature.com/articles/s41591-023-02398-1

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38877467

In honor of the last week of Autism Awareness/Acceptance Month, we review in this podcast episode two new scientific findings that call for more awareness and action, and less acceptance of the status quo. First: sex differences in autism are not well understood, and as it turns out, the influences on a diagnosis are different. Males have a higher rate of heritability compared to females. Second, those with rare genetic disorders have very few options for treatment, but a new study promises hope for more personalized approaches. The researchers use Timothy Syndrome as an example of how cells can start to function properly through a targeted approach which focuses on a small part of a gene. This is potentially life saving for individuals with this disorder.

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38630491/

https://www.nature.com/articles/s41586-024-07310-6

This podcast has not covered transition from adolescence to adulthood in the past, probably because there has not been a lot of research in this area. Luckily, recently there has been a surge of investigations and scientifically – supported interventions and recommendations for individuals who are transitioning to adulthood. This podcast episode reviews the latest in where the gaps are and identified some (of many) areas that need further research. Here are the references that will be helpful.

https://pubmed.ncbi.nlm.nih.gov/38493400/

https://pubmed.ncbi.nlm.nih.gov/38501189/

https://pubmed.ncbi.nlm.nih.gov/38423723/

https://www.autismspeaks.org/tool-kit/transition-tool-kit