Autism Spectrum Disorder (ASD) has long been a challenging condition to diagnose. With varying symptoms, severity levels, and complex causes, it’s often difficult for clinicians to identify ASD early enough to provide effective early interventions. Currently, the median age of an ASD diagnosis is around five years old. By that time, a child has often already experienced developmental delays that could have been mitigated with earlier intervention. However, researchers are starting to make progress in identifying potential biomarkers for autism, which could drastically shorten the diagnostic timeline.
One study published last year by a team from the University of California-Davis is offering promising new insights into this search. The researchers found a link between a subtype of ASD and autoantibodies present in the mother’s blood. This finding could point toward a potential way to identify children at risk for autism even before birth, revolutionizing the way ASD is detected and diagnosed.
The UC Davis Study: A Step Toward Early Detection
The groundbreaking research from UC Davis began by examining blood samples from 68 mothers in Pennsylvania and Arkansas who had children diagnosed with ASD. The goal was to look for signs of autoantibodies that might be associated with autism in the child. These autoantibodies, which are produced by the immune system, were found in 16 of the mothers, or 24% of the participants. These mothers had children who were diagnosed with maternal autoantibody-related (MAR) autism.
This discovery is significant because it supports the idea that maternal autoantibodies could serve as biomarkers of autism risk. In simpler terms, researchers now have a potential method for identifying mothers whose children might be at a higher risk of developing ASD.
Dr. Judy Van de Water, one of the study’s authors and a longtime professor at UC Davis Health, was the key figure behind this research. In 2018, she founded MARABio, a company that holds the rights to her findings. The company’s mission is to develop a blood test for women to detect these antibodies before pregnancy or during early pregnancy, ultimately helping to diagnose ASD much earlier than current methods allow.
The Potential of MARABio’s Blood Test
The vision of MARABio is nothing short of transformative. Dr. Michael Paul, former CEO of the biotechnology company Lineagen, joined MARABio in 2021 as a consultant and became its CEO in 2023. Under his leadership, MARABio aims to develop a proprietary blood test that can identify women who carry the antibodies linked to MAR autism, potentially even before pregnancy.
“If we can develop a test that detects these autoantibodies in mothers, we could identify at-risk pregnancies much earlier,” said Dr. Paul. “It would allow for interventions before the child is even born and give us the chance to make a difference while the brain is still developing.”
The ability to diagnose autism before birth would represent a dramatic shift in how we approach the condition. Currently, autism diagnoses are typically made when children are around five years old, although some children may be diagnosed earlier. In comparison, MARABio’s proposed test could offer a much earlier window into the potential for autism, opening the door for earlier therapeutic interventions.
The Promise of Early Intervention
The benefits of early intervention for children diagnosed with autism cannot be overstated. Research consistently shows that early treatment, including therapies like Applied Behavioral Analysis (ABA), can have a profound impact on the child’s development and quality of life. ABA therapy focuses on improving specific behaviors, such as communication, social skills, and self-regulation. The earlier these therapies begin, the better the outcomes tend to be.
Currently, there is a significant gap between the identification of autism and the initiation of therapy. In some areas, children may have to wait months, or even years, before they receive a formal diagnosis or access to therapeutic services. Dr. Paul believes that identifying autism risk earlier—perhaps before the child is even born—could give parents the time they need to prepare and seek out early intervention therapies.
“We believe that, with our test, if we can identify children at risk for MAR autism early enough, we could begin intervention before the child is two years old,” Dr. Paul said. “That early intervention could capitalize on the brain’s plasticity and help it form the right neural connections, which could make a huge difference in the child’s development.”
This approach could potentially improve the effectiveness of current autism therapies and allow families to start the process of support much earlier in their child’s life.
The Challenges of Early Diagnosis
Despite the excitement surrounding these developments, there are still many hurdles that need to be overcome before biomarkers can become a routine part of ASD diagnosis. While MARABio’s test is promising, it’s still in the process of validation. The test needs to comply with various regulations, including the Clinical Laboratory Improvement Amendments (CLIA), and must eventually receive clearance from the U.S. Food and Drug Administration (FDA) before it can be marketed for general use.
Additionally, while other companies are advancing their own diagnostic tools, such as Cognoa’s artificial intelligence-based system and EarliTec’s eye-tracking technology, there are concerns about how soon these tools will be available for widespread use. While the idea of an early diagnosis is appealing, it’s important to consider the practical aspects of implementing such tests on a large scale.
For one, diagnostic tools are not yet universally accepted by healthcare providers, insurance companies, or regulatory agencies. In the case of MARABio’s test, it’s still unclear whether commercial payers, such as Medicaid or private insurers, will cover the cost of such a test. Insurance companies tend to be conservative about approving new tests, especially when the clinical evidence supporting their use is still developing.
The cost of diagnostic tools also raises concerns. While early detection could significantly benefit children and families, there are questions about how accessible these tests will be. Will they be covered by insurance? How much will they cost out of pocket for families without adequate insurance? These are all important factors that need to be addressed before biomarkers can become a widely used tool in autism diagnosis.
The Ethical and Social Implications
There are also ethical questions surrounding early autism diagnosis. A study published in the Journal of Neurodevelopmental Disorders in August 2023 found that 97% of parents with experience caring for an autistic child, and 68% of parents without experience, would be interested in biomarker-based testing for autism. However, the study also pointed out that there is not yet sufficient evidence to support the efficacy of very early interventions.
Some parents expressed concerns about the emotional and psychological effects of learning that their child may develop autism before symptoms are present. For some, the fear is that an early diagnosis might lead to a self-fulfilling prophecy, with parents and caregivers assuming a developmental disability before the child has even exhibited any signs of autism.
This brings up the important question of how to support families who receive such a diagnosis. If the goal is to identify at-risk children early, how can clinicians and healthcare providers ensure that families receive appropriate counseling and support to avoid stigmatization or unnecessary anxiety?
The Road Ahead
Despite these challenges, the pursuit of biomarkers for autism remains a promising field of research. While the practical, ethical, and financial concerns are significant, the potential benefits of early detection and intervention could be life-changing for children and families affected by ASD.
Dr. Paul remains optimistic about the future. “Anything that can provide an early, viable test will be fantastic. It could give families the opportunity to intervene early, which is the key to improving outcomes for children with autism.”
With continued research, development, and collaboration between researchers, healthcare providers, and policymakers, biomarkers may soon offer a much-needed breakthrough in autism diagnosis. Though there is still much to be done, the progress made so far gives hope that we may be on the verge of a new era in the way we understand and treat autism.
