Autism research breakthroughs spawn innovative pediatric medical and behavioral care models

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Scientific breakthroughs in autism care are underway, driven in part by an increased need to provide better basic health care to the diverse group of patients who fall under the “autism” umbrella as well as the greater recognition of the complex interplay between medical and behavioral health among children with autism spectrum disorder (ASD). With this understanding comes a wave of innovations, from scientific research to diagnosis, and care models that successfully integrate the medical and behavioral needs of these individuals.

Why we are seeing this trend

Unlike many other conditions with symptoms that start and stop with pediatrics or a particular specialty, the characteristics, symptoms and comorbidities of autism are complex. New research published by the American Academy of Pediatrics quantifies the prevalence of medical complexity among autistic children, which is disproportionately higher at 59% than it is for nonautistic children at only 3%.

Shawn Murphy
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Adding to the challenge, each individual’s unique presentation of symptoms can appear across the clinical ecosystem, including medical visits, therapy centers and even emergency care. This is not only challenging for clinicians trying to provide appropriate interventions at the point of care but can be inefficient and frustrating for patients and caregivers who get caught in a loop of referrals, sometimes without answers.

What this looks like in practice

Deepa Menon, MBBS, MD, FAAP, MSHA, assistant medical director for the Center for Autism Services, Science and Innovation (CASSI) at Kennedy Krieger Institute, sheds light on real-world practices. She highlights the deep intricacies between pediatrics, specialists and behavioral health professionals in treating autistic patients. Menon describes her experience with a patient who had developed an abrupt spike in aggressive behavior that was out of the norm.

Rather than refer to behavioral health as a first step, the medical team decided to conduct a more detailed investigation. After reviewing the patient’s medications and diet and running basic laboratory tests, they discovered very low vitamin D levels and determined that the child was experiencing significant pain related to rickets. According to Menon, it is important not to assume that “when a child is having a behavior, it’s just autism symptoms. We tend to forget it could be a number of little things, all of which can impact quality of life.”

Pressure on clinicians to provide innovative models

The surge in autism diagnoses and the shortage of specialists have outpaced the capacity of the existing health care infrastructure. Primary care physicians, other clinicians and pediatricians find themselves on the front lines of detection and referral as the growing demand for autism care is pushing traditional care models to their limits.

Mounting pressures on clinicians to step into expanded roles have led to the introduction of new care delivery models to fill critical gaps and deliver more immediate, integrated and effective support. These innovations focus on reducing wait times, integrating services under one roof, and improving the coordination between medical and behavioral health providers. In an era when fragmented services often delay or dilute intervention effectiveness, these models demonstrate how streamlined, patient-centered care can significantly improve outcomes for children with autism.

Integrated diagnosis at the primary care level

Exemplifying innovation at the primary care level is a pediatric practice with offices in Cleveland and Pittsburgh. Recognizing the bottleneck created by long specialist waitlists, practice leaders have trained pediatricians to conduct in-house autism evaluations, allowing for faster diagnoses and earlier connections to services. Rather than referring patients out to developmental-behavioral pediatricians — a process that can delay diagnosis for months — the practice equips its own clinicians to act immediately when developmental concerns arise.

Additionally, they have created a cost-effective, concierge-style model that accepts Medicaid, addressing the financial and logistical barriers that many families face. Because children with autism often require longer, more complex visits than standard primary care appointments allow, this model ensures that families receive the time and attention they need without prohibitive costs — ensuring that children get the right help as early as possible.

The whole-child model

Another promising model is offered by a network of centers addressing the fragmentation in autism care. The whole-child and value-based approach brings together a multidisciplinary team — including pediatricians, speech-language pathologists, occupational therapists, psychologists, applied behavior analysis specialists and music therapists — all under one roof. This structure enables real-time collaboration among providers, significantly improving the quality, consistency and coordination of care.

Rather than requiring families to juggle multiple appointments across various practices, this integrated model allows for shared treatment plans, regular interdisciplinary meetings and seamless communication. Not only does this approach provide a better experience to patients and caregivers, but it offers a more cohesive experience to clinicians and is showing utilization and claims to payers going down as well.

Training and scaling solutions

Another critical trend is equipping clinicians with more tools and training to manage autism-related needs directly within their practices by making critical knowledge and expertise more accessible.

Virtual expertise in lieu of travel to experts

Programs like ECHO Autism are at the forefront of this effort, offering a model that empowers physicians to deliver specialized autism care through telementoring and collaborative learning networks.

Through ECHO Autism, community providers participate in virtual sessions led by autism specialists, allowing them to gain expertise in diagnosis, management of co-occurring conditions and family support strategies. Early evaluations of the program show that participating clinicians feel more confident in their ability to identify, manage and support children with autism within the medical home model.

These types of initiatives help bridge the gap between families and needed services, especially in underserved areas where there is limited access to developmental-behavioral pediatricians. They also support the larger movement toward integrated, frontline autism care that doesn’t rely solely upon referrals and long waitlists. By investing in the skills of general practitioners, the health care system can ensure that more children receive timely, competent care, regardless of their geographic location.

Connecting evidence-based research to care conversations

The complexity of needs among autistic patients, coupled with the vast and fragmented nature of scientific research, can be challenging for clinicians, but these factors also present a quintessential use case for information technology, and particularly generative artificial intelligence (AI). The recently launched Autism Knowledge Gateway provides clinicians with a tool to improve medical care for autistic patients and optimize clinician time. This first-of-its-kind resource enables thousands of peer-reviewed articles in an AI-powered research hub and is positioned to transform ASD care by removing knowledge barriers that stand in the way of treating basic medical conditions that can impede quality of life for autistic patients. Practitioners also have the opportunity to engage in discussion boards to further inform patient care through the related experience of others.

Breakthroughs in pharmaceutical research

Given the physiological diversity of autistic people, identifying pharmaceutical interventions for the treatment of autism and related symptoms has been a challenge for researchers. The only medications currently approved to treat specific symptoms of ASD are risperidone (Risperdal) and aripiprazole (Abilify). While these two antipsychotics are used to treat irritability and aggression, they do not address the underlying cause of those symptoms.

A better understanding of the microbiome

Over the past five years, numerous studies have consistently demonstrated that ASD is often associated with an imbalanced microbiome that might contribute to the development of core symptoms and gastrointestinal (GI) problems.According to a study published by Nature Reviews Gastroenterology & Hepatology,GI problems found to be common in individuals with autism include chronic constipation, diarrhea, abdominal pain and gastroesophageal reflux disease. Moreover, many of these GI disturbances have been found to be associated with co-occurring conditions such as anxiety, sleep disturbances and various behavioral disorders, such as aggressive, repetitive and self-injurious behaviors.

While the presence of bidirectional gut-brain communication may seem obvious with respect to the central control of hunger, it is becoming more apparent that such communication is more widely implicated in cognition, social behavior, fear expression and stress response. The newest reports substantiate this finding for autistic children, providing evidence for differences in the gut microbiota structure of children with ASD in comparison with that of neurotypical children. These differentials could potentially establish a bidirectional communication link between the gut microbial community and the brain.

More specifically, indoxyl sulfate — a bacterially derived metabolite — has been identified as a toxin that is elevated in children with ASD. It is associated with decreased levels of important neurotransmitters, including serotonin, dopamine and norepinephrine in children with ASD and may contribute to both core and comorbid ASD symptoms.

A growing number of therapies in clinical trials

Ongoing research is also leading to the introduction of novel treatments, notably fecal microbiota transplantation (FMT), sometimes known as microbiota transplant therapy (MTT). This approach involves transferring gut microbiota from a healthy donor to a recipient to restore a healthy gut microbiota, often referred to as the “second brain” due to its influence on the brain-gut-microbiome axis. This treatment shows promise in improving GI and behavioral symptoms in autistic individuals, with some studies indicating long-term benefits.

While open-label studies suggest the potential for FMT/MTT to benefit autistic individuals with GI disorders, double-blind, multisite trials are already underway to definitively assess efficacy and safety that will, hopefully, lead to FDA approval. Some studies, both with and without autistic participants, are assessing whether periodic doses throughout an individual’s lifetime are necessary, depending on various factors, such as age, GI condition and the route of administration, among others.

One organization leading the way in this area is Gut-Brain Axis Therapeutics, funded by 70-plus autism families to accelerate FDA approval for MTT. Using MTT, the team aims to replace harmful gut bacteria with beneficial strains, restoring balance and potentially improving both digestive health and core autism symptoms. What is particularly compelling about this project is that researchers have completed three Phase 2 clinical trials and started two more, which puts them further along than many comparable initiatives. This is clearly an indication that pacesetters are getting beyond research and closer to innovation in the form of therapy that addresses the crossover between medical and behavioral health at a root-cause level.

Building a new future for autism care

Menon grounds this discussion with clear direction: “We know there are certain conditions that are more prevalent in children with autism — seizures, sleep disorders [and] GI issues, for example. The variation that we see is significant, with no single child showing the same combination of symptoms and presentation. Some of the common approaches we use in the pediatric population we cannot always use in children with autism, and we need to be aware of that.”

Expanded areas of research are unraveling the fundamental, molecular and biological underpinnings of ASD, supporting primary care physicians and pediatricians with more objective, evidence-based diagnostic assessments and approaches to treatment. The goal is to better identify ASD as early as possible, formulate personalized treatment strategies and effectively address the full range of a patient’s needs.

Shawn Murphy, board vice president of the Thought Leadership & Innovation Foundation (TLI), is an experienced leader and certified project management professional with an impressive history of driving organizational growth in the information technology and services industries. With her leadership and guidance, she has managed health information technology and financial management programs for the Department of Defense, the Department of Veterans Affairs, the National Institutes of Health and commercial enterprises.