Research roundup: 2024 in review and the road ahead

New research explored social inequities in autism 

Research this year highlighted the systemic barriers facing the autism community. A study from the Baby Siblings Research Consortium found that infants with older autistic siblings were more likely to be diagnosed with autism if their families were from marginalized communities or had less access to education. 

“I believe there’s growing interest in understanding how social determinants of health like poverty or racism affect overall health and well-being,” says Dr. Brian Boyd, William C. Friday distinguished professor in education in the School of Education at University of North Carolina at Chapel Hill. “Understanding how these factors are impacting the ability of autistic people to thrive and have good quality of life is very important.” 

Some studies have examined historically underrepresented communities. Research from the University of North Carolina TEACCH Autism Program analyzed 20 years of diagnostic trends among females and found that while diagnosis rates are rising faster than among males, females are still more likely to be diagnosed later in life—often after age 13. 

“This kind of research gives us more of a systems-level understanding of what’s impacting autistic people’s outcomes,” explains Dr. Boyd. “By looking at broader structural issues, we can go beyond individual-level interventions and into system-level solutions that have a bigger impact on people’s lives and outcomes.” 

Whether it’s things like concentrated poverty or racism, understanding how these factors are impacting the ability of autistic people to thrive and have good quality of life is very important.

Dr. Brian Boyd 

Emerging technologies unlocked new possibilities

Technological innovations like generative artificial intelligence (AI), extended reality (XR), virtual assistants and wearable devices are revolutionizing support for people with autism, offering new possibilities in education, employment, social interaction and independent living. 

“With the proper development and guidance, these technologies hold the promise of significantly improving accessibility and inclusion across the lifespan,” says Dr. Russell Shilling, former Navy Captain, aerospace experimental psychologist, program officer at the Defense Advanced Research Projects Agency (DARPA) and chief scientific officer of the American Psychological Association (APA).  

A study showed that AI chatbots are providing valuable advice about workplace social communication to employed autistic adults, while a meta-analysis found that VR-based interventions are effective in helping children and adolescents with autism improve cognitive, social and emotional skills.  

“Generative AI facilitates personalized communication aids, enabling individuals to express themselves more effectively and receive tailored organizational support,” says Dr. Shilling. “When integrated with virtual assistants, these technologies can improve workplace efficiency and support independent living. In educational settings, AI-driven tools can adapt learning materials to individual needs, fostering a more inclusive and effective learning environment.” 

Innovations expanded access to autism screening and diagnosis 

Advancements in diagnostic tools and methods are paving the way for more accessible autism screening worldwide. Research on gut microbiota revealed distinct microbial profiles in autistic people, showing promise for stool analysis as a quick, accessible autism screening tool. 

“If the results of this study can be implemented in real-world contexts, it raises hopes for a cheap, fast and simple screening test for autism that may not require specialists initially,” says Dr. Angelina Kakooza-Mwesige, senior lecturer and pediatric neurologist at the School of Medicine at Makerere University College of Health Sciences in Kampala, Uganda. 

Another study found that using the M-CHAT-R/F tool for routine, standardized autism screenings during well-child check-ups is more effective than typical clinical surveillance. Conducting these screenings universally, even in the absence of obvious autism signs, led to increased referrals for diagnosis—highlighting its potential to impact healthcare systems worldwide. 

If the results of this study can be implemented in real-world contexts, it raises hopes for a cheap, fast and simple screening test for autism.

Dr. Angelina Kakooza-Mwesige 

Focus shifted to people with profound autism 

New research brought greater visibility to the experiences of people with profound autism, or those with the highest support needs—a group that has historically been excluded from autism research. 

“For many years, children with significant cognitive and language delays were treated as a homogeneous group at the far end of the autism spectrum and were often excluded from studies due to the lack of appropriate assessments and effective interventions. However, 2024 saw a shift, with multiple publications specifically addressing this population,” says Dr. Connie Kasari, professor of human development and psychology at the Semel Institute at University of California, Los Angeles. 

One study of 344 minimally verbal autistic children revealed a broad range of cognitive and communication abilities, challenging assumptions of homogeneity within this group. Others explored the use of gesture and its role in language outcomes. A thought-provoking essay called for greater integration of people with profound autism into research studies, emphasizing the dire need to reduce marginalization and address their unique needs. 

Advances in genetic research paved the way for gene-targeted therapies 

Autism genetics research made significant advancements this year, accelerating the development of gene-targeted therapies. In a study anticipated to be published next year, the Autism Sequencing Consortium (ASC) conducted the largest exome study of autism spectrum disorder (ASD) to date, finding 230 autism-related genes—up from 72 genes in the previous 2022 analysis. 

“I think we can fairly say that we’re at least at 50% in terms of what we can discover from genome sequencing,” says Dr. Joseph Buxbaum, professor of psychiatry, neuroscience and genomic sciences, co-founder of the ASC, and director of the Seaver Autism Center at Icahn School of Medicine at Mount Sinai. “Compared to a few years ago, we have tripled the number of autism-associated genes. Now, we are beginning to see researchers taking these genetic findings and making very clear advances in terms of therapeutics.” 

These discoveries are paving the way for new treatments that are improving quality of life for autistic people. Clinical trials this year have shown that gene-targeted therapies are improving cognitive abilities, communication skills and daily living skills among people with Fragile X syndrome and Angelman syndrome, two rare monogenic forms of autism. 

“As we uncover more genetic factors that influence autism presentation and outcomes, autistic people will be better positioned to benefit from personalized healthcare just like everyone else,” says Dr. Shih. “With gene-targeted therapies, we’ll be able to improve the quality of life for people with autism well into adulthood.” 

I think we can fairly say that we’re at least at 50% in terms of what we can discover from genome sequencing.

Dr. Joseph Buxbaum

Autism subtyping laid the groundwork for personalized care 

Emerging research from the SPARK and Simons Simplex Collection research cohorts led to a major genetic discovery, identifying four distinct autism subtypes. Based on genetic and phenotypic data from more than 5,000 autistic children, this study was the first to link autism subtypes to underlying biological pathways, setting the stage for more personalized approaches to care. 

While gene-targeted therapies target specific genetic mutations, subtyping takes a broader approach, enabling interventions that are tailored to shared biological and behavioral traits across subgroups. 

“Care needs to be personalized to be most effective,” explains Dr. Shih. “Think of it like getting eyeglasses: everyone has a unique prescription to help them see better, and that prescription can change over the course of your life based on your genetics and environment. In the same way, personalized care for autistic people should fit their specific needs and adapt as their needs evolve. Subtyping helps us understand the unique characteristics of autistic people—whether as part of a subgroup or as individuals—so we can deliver the most effective care.” 

Autistic-led research gained momentum

2024 saw a significant shift toward research led by autistic scientists, bringing unique insights and priorities to the field. For a second year, Autism Speaks offered its predoctoral fellowship for autistic researchers that aims to increase representation in the field and advance diverse areas of study. 

“This is going to be the third year that we’re running our program, and we’ve been so impressed by the quality of work, diversity of ideas and areas of investigation among our applicants,” says Dr. Shih. 

This growing representation is already driving change. “As we have more research led by autistic researchers, we are shifting some of our research priorities,” says Dr. Boyd. “It’s really helping us understand where there are areas of convergence or agreement among different groups within the autism community. Mental health and aging with autism have emerged as key themes, along with the importance of diversifying the voices that are being represented within autism research.” 

One such project, led by Autism Speaks predoctoral researcher Patrick Dwyer, explored perspectives on neurodiversity within the autism and autistic communities. His research highlighted the nuance of these perspectives: even those who embrace the social model of disability agreed on the need for individualized support, particularly around adaptive skills, depression and epilepsy—areas where targeted interventions can make a lasting difference. 

As we have more research led by autistic researchers, we are shifting some of our research priorities.

Dr. Brian Boyd

What’s next?—Trends in 2025