Autism Research: A Decade of Exploration

A young girl in an office setting scatters autism research papers

How much research goes into autism?


Autism is a complex neurodevelopmental disorder that affects approximately 1 in 36 children in the United States, according to the CDC. Over the last ten years, there have been considerable advancements in our understanding of autism and how to support individuals with this condition effectively, including changes in the diagnosis criteria.

But what does the latest autism research prove? One of the breakthroughs in autism research over the past decade has been a greater understanding of the spectrum. This advance further demonstrates that while individuals with autism can present a wide range of symptoms and abilities, each person’s experience is unique. This recognition has led to a shift in how we view and approach autism, moving away from a template approach and towards individualized treatment plans and support.

In the last decade, autism research has focused on improving our understanding of this complex condition, refining diagnostic procedures, and enhancing the treatment options available to affected families. Scientists, autism specialists, and hundreds of millions of dollars in research have garnered relevant revelations, insights, and high-quality output that have profoundly and positively changed the lives of many in this often misunderstood, underrecognized community.

Further in the blog, we will explore the critical discoveries in autism research and the importance of ABA Centers of Pennsylvania in promoting acceptance and providing evidence-based treatment with Applied Behavior Analysis (ABA) therapy for individuals with autism.

Is Autism the Result of Heredity?


Previous research suggests that there is a genetic component to developing autism spectrum disorder (ASD), meaning that it can have a hereditary aspect. In a study from 1977 by the Journal of Child Psychology and Psychiatry, researchers found that the difference in concordance for autism between fraternal twins (DZ) and identical twins (DZ) was significant, plus an emphasis on cognitive disorder and the high heritability factors in the development of autism. 

A recent study by Proceedings of the National Academy of Sciences also uncovered a distinctive pattern in autistic children hailing from multiplex families, which translates to an elevated presence of rare inherited protein-truncating variants within established autism risk genes. The study also shed light on the transmission of ASD polygenic risk from nonautistic parents to their autistic offspring, especially those carrying rare inherited variants. This observation suggests a potential interplay of genetic factors, offering insights into the diminished penetrance of these rare variants in parental generations.

Moreover, the study delved into the correlation between ASD polygenic score (PGS) versus the transmission of social dysfunction and language delay. This link implies the possibility that language delay might be an inherent biological characteristic of ASD, challenging the prevailing notion that it is not a fundamental clinical criterion.

While genetics can play a role in the development of autism, it’s important to note that it is a complex condition influenced by a combination of genetic, environmental, and neurological factors.

Autism and Genes


Researchers have made significant strides recently in understanding gene expression and its connection to autism by analyzing the SPARK gene list. This list encompasses genes, variants, and chromosomal differences linked to autism. These advancements have permitted scientists to identify de novo variants in genes. A de novo mutation is a genetic alteration observed for the first time in a single family member, stemming from a mutation in the parent’s egg or sperm. Additionally, the variant may manifest in the fertilized egg during early embryonic development.

Notably, robust de novo alterations in specific genes elevate the risk of autism by 20 to 50 times compared to individuals who demonstrate no indication of this variant. This increased risk indicates that nearly everyone having a particular genetic variant is associated with autism. Importantly, these variations are not inherited from parents but can still assist in the development of neurodivergence.

While these mutations are not prevalent in the general population, they notably amplify the likelihood of autism, underscoring the role of genetic diversity in the development of ASD. These discoveries serve as fundamental tools for neurobiologists. Although these variants do not fully account for autism, the knowledge gained provides deeper insights into the functioning of the brain and biology of autism.

Tactile Perception and Heightened Sensitivity


The latest edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) has determined that sensory abnormalities are part of the diagnostic criteria for autism. Approximately 90% of individuals on the spectrum exhibit atypical sensory experiences characterized by reduced responsiveness (hypo-reactivity) as well as heightened reactivity (hyper-reactivity).

Connecting autism and sensory challenges isn’t a recent observation. Dr. Leo Kanner, one of the pioneers in defining autism, incorporated unconventional sensory behaviors into his observations. These included increased sensitivity to noise and touch, fascination with visual patterns and spinning objects, and engaging in finger-stimming gestures in front of the eyes.

The research emphasizes the growing evidence that peripheral mechanisms may contribute to core symptoms of ASD, including social deficits and tactile sensory sensitivities. Recent research from Current Psychiatry Reports reveals that mice with mutations in ASD-related genes, including Shank3, Fmr1, UBE3A, and Mecp2, exhibit abnormalities in tactile responses. Contrary to previous beliefs, some of these abnormalities stem from changes in the peripheral nervous system (PNS) rather than alterations in central nervous system (CNS) processing.

What to Expect Next?


In the past decade, researchers have made significant progress in unraveling the complexities of autism, shedding light on its origins and potential therapeutic avenues. The acknowledgment that both genetic factors and environmental influences contribute to the development of autism has revolutionized our understanding of the condition.

This newfound insight has paved the way for improved support systems and led to the development of effective treatments such as ABA therapy. ABA, a widely recognized and evidence-based intervention, plays a pivotal role in enhancing the lives of individuals with autism by focusing on behavior modification and skill-building.

Looking ahead to the next decade of autism research, we can expect even more profound revelations that will shape the future for individuals on the spectrum and their families. The continued dedication and concerted efforts of researchers, practitioners, and autism advocates will undoubtedly contribute to a deeper comprehension of this complex condition.

ABA Centers of Pennsylvania and Autism Research


As we look back on the progress made in autism research over the years, the journey has been one of discovery, collaboration, and hope. Looking towards the future, the continued commitment to understanding and embracing neurodiversity promises even more breakthroughs and improved outcomes for individuals on the autism spectrum.

At ABA Centers of Pennsylvania, we understand the challenges individuals and families face with autism. That’s why we aim to provide support through our ABA therapy, the only evidence-based therapy for autism.

Whether in Bala-Cynwyd, New Britain, or anywhere in the Philadelphia region, if you would like to learn more about our ABA therapy or insurance coverage, contact us here or call us at (844) 444-7496 to schedule an appointment with our ABA professionals.

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