Early Detection and Intervention in Autism Spectrum Disorder

Early diagnosis and intervention are widely recognized as key factors in supporting individuals with autism spectrum disorder (ASD), helping to reduce associated challenges and improve quality of life.¹ Despite this, many individuals and families face persistent barriers in accessing critical resources. These obstacles highlight a critical and ongoing need to improve the availability, accessibility, and equity of care for those affected by ASD.

“Research shows that children who start high-quality, intensive, evidence-based early intervention for autism at younger ages have improved outcomes across a broad range of domains, including language, cognitive, academic, and adaptive outcomes,” according to Diana L Robins, PhD, professor and director of the AJ Drexel Autism Institute at Drexel University in Philadelphia, Pennsylvania.² 

“Although there are no guarantees, developmentally appropriate services like speech therapy, occupational therapy, physical therapy, family therapy, and social opportunities are highly recommended for children struggling in these domains,” noted Julia Parish-Morris, PhD, associate professor of psychiatry and senior principal scientist in the Center for Autism Research at the Children’s Hospital of Philadelphia. “Whether or not a child is ultimately diagnosed with autism, early targeted supports can be helpful.” 

Barriers to Timely ASD Diagnosis and Intervention

Many factors can hinder early diagnosis and intervention in ASD. “Long waitlists to see specialists, difficulty with insurance and billing, and parent challenges with navigating the maze of paperwork that can be necessary for both diagnosis and intervention,” are a few of the common barriers, Dr Parish-Morris said.

She also pointed to broader systemic factors that affect access to care, such as language barriers, rural residence, and socioeconomic status. “Individuals who don’t speak English may have more difficulty accessing services due to lack of translators, and geographically isolated or low-resource families may have a harder time getting to regular appointments,” she explained. “There may also be knowledge roadblocks during the process of referral and diagnosis – for example, autism is less commonly diagnosed in girls than boys, so clinicians may miss signs of autism in girls.”³

Dr Robins noted that such delays in girls are often linked to differences in symptom presentation.⁴ “Girls may have more subtle social delays or more compensatory strategies that hide the autism symptoms.”

Race and ethnicity can also influence when and whether children are diagnosed. “The CDC’s 2022 autism prevalence report showed that for the first time, children from Asian/Pacific Islander, Black, and Hispanic backgrounds were diagnosed with autism at higher rates than White children,” said Andy Shih, PhD, Chief Science Officer at Autism Speaks.⁵ “However, research shows that many minority groups often experience delays in diagnosis, which can limit their access to critical early intervention services.”⁶

Dr Shih added that cultural stigma surrounding ASD can further discourage families from seeking evaluation, particularly in the early stages of development when intervention is most effective.

Even after diagnosis, access to timely, high-quality intervention is not guaranteed. Dr Robins pointed to a shortage of qualified professionals to provide manualized autism-specific “interventions, such as naturalistic, developmental, behavioral interventions or early intensive behavioral intervention, which focuses on the principles of applied behavior analysis.” She added, “Another issue is that community agencies sometimes struggle to deliver manualized interventions at high fidelity, and interventions delivered at low fidelity may affect outcomes for the child.”⁷

Screening, Diagnosis, and Early Intervention in ASD

Screening for ASD typically begins in the pediatrician’s office, where parents complete questionnaires about their child’s developmental milestones, according to Dr Parish-Morris. However, observation alone may not be enough. “Surveillance alone is not adequate to identify most children [in the first few years of life], so universal autism screening is critical to identify many children with an increased likelihood of autism as young as possible,” said Dr Robins.

Dr Robins developed the most widely used autism screening tool for toddlers, the Modified Checklist for Autism in Toddlers (M-CHAT), along with its updated versions, the M-CHAT Revised (M-CHAT-R) and the M-CHAT-R with Follow-Up (M-CHAT-R/F).⁸ “The M-CHAT-R and many other autism screening tools most often rely on parent report because parents know their children best and can report on how their child usually behaves, based on seeing them in many different contexts,” she explained. “These tools are also more feasible to complete in primary care, since medical professionals do not need special training to administer them.”

Dr Robins emphasized that “Standardized, high-fidelity screening is critical to detect many cases of autism as young as possible.”⁹ Although children are often not referred to specialists until concerns arise, she noted, “even for specialists, using standardized screening tools like M-CHAT-R/F can support their care of children.”

When screening results suggest possible ASD, children are typically referred for further evaluation by specialists such as psychologists, developmental behavioral pediatricians, psychiatrists, neurologists, or other clinicians experienced in autism diagnosis, according to Dr Parish-Morris. A comprehensive diagnostic evaluation includes “talking with parents about their concerns, reviewing the child’s medical and developmental history, interacting with the child – often using a tool like the Autism Diagnostic Observation Schedule, and evaluating the child’s autism symptoms against Diagnostic and Statistical Manual of Mental Disorders (DSM) criteria,” said Dr Parish-Morris. “Genetic testing may be conducted, if indicated, although there is no single ‘autism’ gene””

Dr Robins stressed the importance of prompt action when autism is suspected. “Experts who suspect autism in a young child should not delay in talking to the family and referring simultaneously to diagnostic experts and early intervention.” She continued, “Simultaneous referrals are best practice because even though most children will not get intensive, autism-specific intervention prior to diagnosis, they can at least get started with some intervention,” which can be modified following diagnosis. 

To further support families, Dr Parish-Morris encouraged clinicians to be proactive in building referral networks. “Keep lists of contacts and resources and build your network of specialty providers for patients with ASD,” she recommended. “To provide the best care, we must integrate ourselves into a diverse group of providers that can meet each child’s individual needs.”

Ongoing Efforts and a New Test for Early ASD Detection

Researchers are exploring a range of strategies to improve early detection in ASD, including machine learning-based approaches and biomarker-based testing.^10-12 One recent development in this space is a collaboration between Autism Speaks and LinusBio, a company that has developed a new test designed to support early autism identification.¹³ 

The test, called ClearStrand-ASD, is a prescription-based biochemical assay that analyzes a strand of hair and uses machine learning-based artificial intelligence to detect the presence or absence of a molecular biomarker associated with ASD.¹⁴ 

According to the company’s website, “It is intended to aid [health care providers] in ruling out autism in patients aged 1 month up to 4 years (48 months) when autism is a concern.”¹¹ The site further reports that the test demonstrated a negative predictive value of 95%, a positive predictive value of 17%, a sensitivity of 90%, and a specificity of 29%.¹⁵ 

Dr Shih emphasized that this tool should not be used in isolation. “It is important to note that ClearStrand-ASD is not a standalone diagnostic tool and should always be used alongside a formal clinical evaluation,” he said. “Further research is needed to support its integration and implementation in clinical settings.”

He also noted the potential of the Autism Speaks and LinusBio partnership to contribute to meaningful data. “Partnering with LinusBio gives us the opportunity to evaluate a promising diagnostic aid tool in real-world community settings,” Dr Shih said. “Through this collaboration, we’re sharing information with families through our Autism Response Team and inviting them to take part in research that will show how ClearStrand-ASD performs across diverse populations.”

Combating Misinformation and Advancing Autism Care

Beyond diagnostic and treatment delays, misinformation poses a growing threat to both public understanding of autism and the quality of care for individuals with ASD. “There is currently a misinformation campaign being waged about autism in this country,” said Dr Parish-Morris.

Public figures have contributed to the spread of misleading claims. Health and Human Services Secretary Robert F Kennedy, Jr, previously vowed to identify the causes of autism by September 2025 and suggested a link to environmental exposures.^15,16 Additionally, on September 21, CNN reported that the Trump administration plans to announce that autism can be attributed to the use of Tylenol and low folate levels in pregnancy.¹⁷

“The search for such simple ’causes’ of autism is misguided and out of touch with science, and trying to force easy answers to a complex question will end up harming people,” Dr Parish-Morris cautioned. “Autism is complex, heterogeneous, and worth studying without political influence.”

Looking ahead, she stressed the importance of long-term investment and public engagement. To adequately support families caring for autistic children, it is critical to “foster public awareness and support for autistic people, expand access to autism support services across the lifespan, and fund autism research,” Dr Parish-Morris said.

Dr Shih emphasized that reducing stigma begins with open dialogue. He encouraged providers to have “open, culturally sensitive conversations with families to help reduce stigma about autism and ensure that families get timely support.”

Dr Robins also pointed to promising efforts to improve access to diagnosis. “Briefer telehealth evaluations – thus addressing both the logistical challenges of getting to a specialist and the length of most in-person evaluations – and even diagnosing autism in primary care,” are parts of several new approaches, she explained.¹⁸ “So, there may be shifts in the coming years to a broader range of acceptable diagnostic processes.”