Groundbreaking new autism research suggests that already-rising diagnoses could jump more significantly in the coming years if a new framework for understanding the condition comes into play.

The latest research out of Princeton University and the Simons Foundation uncovered four unique subtypes of autism, each with its own genetic ‘fingerprint’ – finally explaining why some children show signs early while others aren’t diagnosed until school age.

Researchers have uncovered the missing link in autism’s origins by connecting clusters of behavioral traits to specific genetic differences, discovering that each autism subtype has remarkably distinct DNA profiles.

This revolutionary finding could transform autism screening, helping identify thousands of undiagnosed children—particularly girls and those with subtle subtypes—who have slipped through the cracks for years.

The average age for an autism diagnoses is five, though the vast majority of parents notice odd quirks in their children, particularly around social skills, as early as two years old. And rates at which children are being diagnosed have spiked in recent years.

Still, many people are diagnosed as teens or young adults, likely missed as children due to outdated diagnostic criteria, stereotypes, or lack of awareness.

A Rutgers University study found that 176 teens in their study were diagnosed with autism at 16 years old—proving the condition is being missed in childhood.

Now, with this new genetic roadmap, earlier and more accurate diagnoses could become the norm, ensuring kids get the critical support they need during their most formative years.

Being diagnosed with autism at a young age offers several significant benefits that can set children down a positive life path.

Emerging research is indicating to child psychiatrists that genetic testing and refined screening tools could soon catch cases that once went undetected, preventing years of struggle and isolation for thousands of overlooked kids.

Current ASD diagnostics generally rely on observed behaviors – children’s social interactions, repetitive behaviors, sound sensitivity, etc. – which can be subjective and brushed off for years.

But genetic subtypes for these traits offer objective, measurable clues to autism’s origins.

Dr Ryan Sultan, a double board‑certified psychiatrist and the Founder & Medical Director of Integrative Psych, told DailyMail.com: ‘What makes this new research particularly compelling is its move towards identifying biological markers and genetic subtypes within the autism spectrum.’

Dr Sultan, who was not involved in the research, added: ‘The prospect of diagnosing ASD based on genetic or biological profiles, rather than solely behavioral criteria, represents a significant step forward.

‘It not only holds promise for more precise and early diagnoses but also opens the door for developing targeted interventions and treatments.’

Current diagnostic frameworks categorize autism along a three-tiered spectrum, Levels 1 through 3, based on the severity of social challenges and restricted, repetitive behaviors.

With this new genetic roadmap, earlier and more accurate diagnoses could become the norm, ensuring kids get the critical support they need during their most formative years (stock)

But these broad classifications fail to capture the condition’s extraordinary nuance, often overlooking critical individual differences, from sensory sensitivities to co-occurring conditions like ADHD or epilepsy.

For decades, scientists have sought to refine this tiered model by finding biologically and behaviorally distinct subtypes rooted in genetics and neural circuitry.

Unlocking these subtypes and incorporating this framework could revolutionize care—transforming a one-size-fits-all approach into personalized medicine for the autistic community.

As more children become accurately diagnosed and better accommodated at home and at school, which may provide a specialized program for children on the spectrum, the number of new diagnoses nationwide are likely to increase still further.

‘Raising awareness of the different categories of ASD particularly the mild type can increase diagnosis as more individuals become aware of their symptoms and challenges,’ Dr Nechama Sorscher, a child psychologist specializing in autism, told DailyMail.com.

‘Most importantly, understanding the genetic etiology of these symptoms removes stigma and blame and empowers individuals with ASD as well as their friends and families.’

The Social/Behavioral subtype (37 percent of the roughly 5,000 children studied) shows classic autism traits without developmental delays.

What sets this group apart is their high rate of co-occurring mental health conditions, including ADHD, anxiety, and depression. Researchers found these individuals often go undiagnosed until school age, when social demands increase, because their developmental progress masks underlying challenges.

Children with Mixed ASD and Developmental Delay (19 percent) experience early speech and motor delays but fewer mental health issues. Genetic analysis revealed this group is more likely to carry rare inherited mutations, suggesting a strong prenatal origin for their autism.

Interestingly, their core symptoms vary widely—some struggle more with social interactions, while others show pronounced repetitive behaviors.

The Moderate Challenges group (34 percent) presents with milder autism symptoms and typically meets developmental benchmarks. 

Unlike the first subtype, they typically don’t experience significant mental health comorbidities, which may reduce their need for long-term medication or intensive interventions. 

This group’s genetic profile involves lower-impact variants that may explain their more subdued presentation

The Broadly Affected subtype (10 percent) faces the most severe challenges, combining developmental delays, significant social-communication difficulties, and psychiatric comorbidities. 

Genetically, they’re more likely to have damaging spontaneous mutations not inherited from their parents.

The findings challenge previous assumptions by showing autism’s genetic triggers can activate both before and after birth.

An estimated 2.3 million children and seven million adults in the US have ASD

While genes explain about 20 percent of cases, researchers emphasize the remaining 80 percent likely involve a complex interplay of environmental factors, modifications to DNA that regulate gene expression, and gene-environment interactions that scientists still don’t fully understand.

Dr Olga Troyanskaya, Director of Princeton Precision Health and lead author of the study, told DailyMail.com: ‘Just because 80 percent of individuals do not have a known genetic cause does not mean that genetics are not causing their condition. Many studies have shown that autism is very (70-90 percent) heritable, so the majority of cases are primarily genetic in origin. 

‘However, the complexity of these genetics means that we cannot pinpoint the precise genetic changes causing autism in 80 percent of individuals with the diagnosis, because the exact architecture of autism genetics is still unclear. 

‘An important potential impact of our study is that the subtypes we identify allow researchers to dissect the genetic heterogeneity of autism, potentially enabling identification of genetic causes for more individuals with autism.’ 

An estimated 2.3 million children and seven million adults in the US have ASD.

Diagnoses have risen sharply over the past two decades, according to shifting statistics from the Centers for Disease Control and Prevention.

In 2000, about 1 in 150 children received an ASD diagnosis; by 2020, that figure had climbed to 1 in 36—a near-quadrupling that reflects both greater awareness and evolving diagnostic criteria.

The surge is further illustrated in a 2024 study of 12.2 million Americans’ health records, which revealed a 175 percent increase in autism diagnoses over an 11-year period.

While some experts attribute the rise to expanded screening and reduced stigma, others argue that biological and environmental factors may also play a role—a debate that continues to divide researchers.

Dr Troyanskaya added: ‘We are not entirely sure how long it would take for these subtypes to be integrated into the clinic – changes in clinical diagnoses typically require many steps of independent replication, feasibility studies, and assessments of the impact on diagnosis and care before being formally adopted.’