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Research in Autism: What’s Giving Us Hope?

Autism research

Autism expert Shafali Jeste, MD, FAAN discusses the current state of autism research and the exciting advances in autism therapies on the horizon.

 

Autism is a complex and multifaceted condition that impacts the lives of many Americans. Shafali Jeste, MD, FAAN, Chief of Neurology at the Children’s Hospital Los Angeles, joined us for a webinar to discuss current research efforts to better understand autism. Dr. Jeste is a behavioral child neurologist specializing in autism and related neurodevelopmental conditions. She shared her extensive knowledge of current autism research and offered several glimpses into the future of autism therapy.

Moderated by American Brain Foundation Board Chair David W. Dodick, MD, FAAN, the wide-ranging discussion explored many key topics in the field of autism research and evidence-based treatment efforts. Below we review what Dr. Jeste had to say about the focus of current autism research efforts and where autism research is likely to be headed in the future.

An Era of Discovery and Innovation

Dr. Jeste believes we are in the midst of an era of discovery and innovation in the field of autism research and related therapeutics. As our understanding of autism evolves, doctors are developing better methods of diagnosis. Research has resulted in a better understanding of certain behavioral criteria through which doctors can make an earlier diagnosis of autism than was previously possible.

A Movement Toward Precision Health

Increased accuracy and proficiency in diagnosing autism is a positive step forward. However, Dr. Jeste expressed concerns regarding the need for more specified behavioral interventions, education, and support for families and caregivers of children diagnosed with this condition.

Referencing her work with children with autism and their families in the past, she says physicians were “making a good diagnosis and then really not providing great feedback about next steps. And that’s frustrating.” She went on to explain that, as a physician working with children with autism, “we want to give good diagnoses so that we can really guide parents on what the next steps are, to help provide a clear path forward.”

Dr. Jeste believes the focus of clinical research is currently shifting to improving therapeutics and post-diagnosis interventions. The past 15 years have shown a dynamic shift toward precision health and medicine. This is an initiative she says could significantly impact autism research. She says early intervention is key as current research efforts focus on “provid[ing] the right treatment to the right patient at the right time, ideally really early in development, when we’re first seeing these changes or differences unfold.”

This movement toward more individualized, targeted therapeutic treatments has been fueled by several key advancements, particularly in the area of genetics.

Genetics and Autism

Modern researchers’ ability to examine the genetic underpinnings of various neurodevelopmental conditions is one of the primary factors driving advancements in autism research and targeted therapeutics. Autism researchers are able to identify specific changes in DNA tied to such neurodevelopmental conditions. This is thanks to advanced techniques such as chromosomal microarray (CMA) and whole-exome sequencing.

We now know that autism has a known genetic cause in 15-20% of cases. The genetic causes for autism differ widely from person to person. But this research focuses on constellations of impacted genes in a person’s DNA that lead to the condition. Armed with this knowledge, researchers hope to eventually be able to assess the underlying genetic mechanisms that cause autism. This knowledge will inform and drive new treatments designed to precisely target these underlying causes and their resulting impact on a person’s brain and behavior. The hope is that these targeted therapeutic treatments, once developed, can be effectively utilized in a broad range of cases. We hope this will open the door for even more precision treatments for people with autism.

Genetics research is also informing the way researchers look for early signs that can help predict when children are at an increased likelihood of developing autism. Dr. Jeste says, “it’s not that at age two or three, all of a sudden autism hits.” Instead, neurologic circuits are impacted very early on in the brain’s development, during the fetal stages. “There may be subtle changes in the way the brain fundamentally is wired,” says Dr. Jeste. Current studies focused on these early developmental changes remain focused on babies who have older siblings with autism.

Research shows that children who have an older sibling with autism are 10-20 times more likely to develop autism. This awareness is leading to earlier and more targeted interventions for children with an increased likelihood of receiving a diagnosis. Earlier intervention can improve developmental outcomes.

The American Brain Foundation was one of the earliest supporters of this area of inquiry, funding Dr. Jeste’s research into autism in infancy over 12 years ago.

An Expanded Perspective in Autism Research Efforts

Family involvement in the treatment of children with autism is a well-known driver of more positive therapeutic outcomes. Current research efforts are increasingly involving families and individuals with autism not just as participants. They also want them to assist with the development and organization of studies.

This new era of autism studies stems from the increasing recognition of the value of patient-centered research. Dr. Jeste notes that there are many benefits to having people with autism directly involved in all aspects of research. This helps keep inquiry efforts focused on the real world needs and priorities of people with autism and their families.

This movement toward self-advocacy in autism research empowers individuals with autism and their loved ones. It also helps drive autism research and therapeutic innovations forward. As Dr. Jeste explains, “they’re the ones who are actually accelerating a lot of this landscape.” This movement toward inclusion has already impacted autism researchers’ ability to collect data on types of potentially promising therapeutics. For example, researchers are currently evaluating the use of melatonin for sleep issues commonly experienced by people with autism.

Efforts at greater inclusion and patient-centered research have also directed attention toward two demographics whose needs and perspectives have traditionally garnered less attention in autism studies: women and adults with autism.

Women with autism tend to present with different outward signs and symptoms than men. So they often experience a diagnostic bias. “Early in childhood [girls with autism] may have more of what we call internalizing symptoms. They tend to be more withdrawn. They’re the ones who are really anxious and maybe not speaking up as much,” says Dr. Jeste, “We do think there’s an actual diagnostic bias.”

Dr. Jeste says a UCLA study is “trying to understand both the clinical features and actual brain-based biomarkers that distinguish girls from boys with autism.” This particular study is following adolescent girls with autism into adulthood in an effort to answer the question: “What are the specific challenges and even clinical features that we are finding in girls with autism?”

Other ongoing studies and research efforts are focused on ways to expand resources and support for adults with autism. Dr. Jeste says this research is especially important, as “it’s an area of unmet need and we need to be developing better programs.” Currently, several states, including California, have regional centers that provide services designed to better support adults with autism. Other forms of support for adults with autism include peer support groups, vocational training, and job placement services.

This issue of access to quality services, therapeutics, and support for individuals with autism and their families was one of the major themes raised and discussed during Dr. Jeste’s webinar. She expressed hope that we will continue working to expand access to autism therapy and services. In turn, this should make more forms of support readily available to a wider range of people.

A Hopeful Future

The future of autism research offers hope for new discoveries and more person-centered approaches to therapies, treatment, and diagnosis. Increased collaboration between researchers and individuals with autism has allowed research funding to more directly impact the lives of people living with this condition.

The more researchers are able to trace the neurodevelopmental origins of autism, the deeper understanding we will have of its causes. “Our goal is that we’ll have mechanism-driven treatments that aren’t just specific to one genetic cause,” says Dr. Jeste. In turn, this will lead to more effective, precise treatment options, from behavioral therapy to pharmacological treatments and support.

Autism research continues to shine a light on the many facets of this complex condition. In addition, new discoveries and potential treatments are coming into view. This exciting period in autism research is giving us hope for better ways of supporting people with autism in the future.

The American Brain Foundation continues to demonstrate our unwavering commitment to supporting all areas of brain disease research. We can achieve even more with your help and support. Donate today to join us in paving the way for a future without brain disease.