- A new international study published in Nature found that the age at which a child is diagnosed with autism is influenced by genetics, showing that early- and late-diagnosed autism differ genetically and developmentally.
- Researchers analyzed behavioral and genetic data from over 45,000 autistic individuals across Europe, the U.K., the U.S. and Australia, revealing that children diagnosed before age six show early social challenges, while those diagnosed later often develop issues during adolescence, including depression.
- Genetic analysis showed that late-diagnosed individuals share more genetic similarities with conditions like ADHD, depression and PTSD, suggesting that autism may encompass multiple biological conditions rather than a single disorder.
- The study challenges the idea that diagnosis timing is driven only by healthcare access, showing it also reflects biological and behavioral differences. Researchers also linked later diagnoses to comorbidities like schizophrenia, self-harm and childhood trauma.
- Experts say the findings call for more personalized autism screening and treatment—moving beyond a "one-size-fits-all" approach to include sensory, motor and emotional factors and combining autism-affirming care with evidence-based support for co-occurring conditions.
A groundbreaking international study published in Nature has found that the age at which a child is diagnosed with autism may be influenced by genetics. The research revealed that autism diagnosed in early childhood differs genetically and developmentally from autism diagnosed later in life, suggesting that the condition may represent multiple biological pathways rather than a single disorder.
The study analyzed behavioral data from children and adolescents in the U.K. and Australia, along with genetic data from more than 45,000 autistic individuals across Europe and the United States. Lead researcher Xinhe Zhang explained that the findings show "individuals diagnosed with autism earlier and later in life follow different developmental pathways, and surprisingly have different underlying genetic profiles."
Scientists from the University of Cambridge Department of Psychiatry focused on polygenic factors—common inherited gene variants—which were found to account for roughly 11 percent of the variation in the age at which autism is diagnosed. Children diagnosed before age six were more likely to show early challenges with social engagement, such as reduced eye contact or difficulty initiating interactions. In contrast, those diagnosed during adolescence tended to develop social and behavioral challenges later in life, often accompanied by mental health conditions such as depression.
According to BrightU.AI's Enoch, the genetic composition of individuals diagnosed later in life exhibited a closer resemblance to those with attention-deficit/hyperactivity disorder (ADHD), depression and post-traumatic stress disorder (PTSD) than to those diagnosed in early childhood. As posited by senior study author Varun Warrier, "The umbrella term 'autism' may indeed encompass multiple distinct conditions." This investigation represents a pioneering discovery, demonstrating that early and late diagnosed autism exhibit divergent biological and developmental underpinnings.
Findings highlight need for personalized autism screening, diagnosis and care
The study also challenges the notion that the timing of diagnosis is determined solely by healthcare access or awareness. Instead, Zhang noted that it reflects genuine differences in biology and behavior. These findings could have significant implications for how autism is screened, diagnosed and supported across a person's lifespan.
"Some of the genetic influences predispose people to show autism traits from a very young age that may be more easily identified, leading to an earlier diagnosis," Warrier said. The research also found that comorbid mental health issues such as schizophrenia, PTSD, self-harm and childhood maltreatment were more strongly linked to later autism diagnoses.
Dr. Ashvin Sood, a child and adolescent psychiatrist who was not involved in the study, told The Epoch Times that many people seeking an autism diagnosis often overlook the broad range of conditions associated with autism. "Autism can be associated with a whole slew of other conditions," he said, noting that some symptoms may not become apparent until they cause distress later in childhood or adolescence.
Licensed clinical psychologist Debra Kissen, CEO of Light On Anxiety CBT Treatment Centers, emphasized that the findings highlight the need for more individualized screening and treatment. "If early-diagnosed and later-diagnosed profiles differ biologically and developmentally, our screening shouldn't be 'one-size-fits-all,'" she said.
Kissen suggested that pediatric evaluations expand beyond traditional markers like language delays or lack of eye contact to include sensory responses, motor coordination and social learning cues. She also noted that treatment should blend autism-affirming support with evidence-based care for attention, mood and stress recovery.
By distinguishing between early and late autism profiles, experts believe the study adds crucial precision to intervention strategies. Ultimately, these findings may help create more personalized approaches to autism care—acknowledging that the condition's genetic and developmental diversity requires equally diverse forms of understanding and support.
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