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    How early detection could change autism diagnosis and intervention, with Geraldine Dawson, PhD

    enApril 05, 2023

    Podcast Summary

    • Understanding Autism Spectrum Disorder: Early Detection and InterventionNew technologies like AI, brain biomarkers, and digital health approaches are improving early detection and intervention for Autism Spectrum Disorder, a complex neurodevelopmental condition affecting social communication and behavior. Every person with autism is unique, and effective diagnosis and support require understanding this diversity.

      Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that affects various aspects of social communication and behavior. It is heterogeneous, meaning it presents differently in every individual. About 1 in 36 children in the US have been diagnosed with ASD, and the number of diagnoses has risen significantly in recent years. Early diagnosis and intervention are crucial, but traditional methods have limitations. New technologies like artificial intelligence, brain biomarkers, and digital health approaches are showing promise in improving early detection and intervention. Autistic individuals may struggle with social cues, forming relationships, restricted interests, and sensory sensitivity. The condition ranges from severe to mild, and some individuals may not speak while others are highly intelligent. It's important to remember that every person with autism is unique, and understanding this diversity is essential for effective diagnosis and support.

    • Change in Diagnosis of Asperger's SyndromeAsperger's syndrome is no longer officially recognized as a separate diagnosis. It's now considered part of the autism spectrum, due to unreliable diagnosis and lack of clear differences between it and autism.

      The diagnosis of Asperger's syndrome has been eliminated from the American Psychiatric Association's diagnostic criteria and is now considered part of the autism spectrum. This change was made due to the unreliability of diagnosing Asperger's syndrome versus autism without intellectual disability, the inability to rely on an individual's self-reported language history, and the lack of definitive differences between the two conditions. Autism is a complex condition with both genetic and environmental factors contributing to its development, starting in the prenatal period. Genetic factors can run in families, and there is an overlap between autism and conditions such as ADHD. Environmental conditions that activate the mother's immune system during pregnancy are also being investigated as potential contributors to autism.

    • Factors impacting brain development during pregnancyPregnancy factors like stress, toxins, diseases, and COVID-19 can influence brain development, particularly microglia cells, contributing to neurodevelopmental differences like autism.

      During pregnancy, anything that activates a mother's immune system could potentially impact brain development, particularly cells called microglia, which contribute to synapse development. Factors that can affect the mother's immune system include stress, environmental toxins, significant infectious diseases, and even COVID-19. Researchers believe that a combination of genetic susceptibilities and environmental factors during pregnancy shape brain development, contributing to neurodevelopmental differences, including those diagnosed as autism. The prevalence of Autism Spectrum Disorder (ASD) is higher among boys than girls, and while the reasons for this are not fully understood, changes in diagnostic criteria and improved recognition of autism have likely contributed to the increase in prevalence. Early detection and intervention for autism is crucial, with reliable diagnosis possible between 18 and 24 months, but the average age of diagnosis in the US is closer to 5 years, with disparities for families of color and those with limited resources.

    • Delayed Autism Diagnosis in Children, Especially Black GirlsResearch indicates that autism symptoms appear between 6-12 months, but diagnosis often takes longer due to the expression of symptoms differing in girls and co-occurring conditions. Early detection during infancy is essential.

      Diagnosing autism in children, particularly black children and girls, takes longer than it should. This delay is due to various factors, including the expression of autism symptoms being different in girls and the presence of co-occurring conditions like ADHD, which can overshadow the autism diagnosis. Research suggests that signs of autism start to emerge between 6 to 12 months of age, including the lack of communicative babbling, lack of interest in engaging with people, and sensory sensitivities. Early detection during the infant period is crucial, and efforts are being made to identify autism in babies through various methods.

    • Exploring brain-based biomarkers for autism in infantsResearchers study brain development in infants to detect autism using techniques like MRI and investigate differences in white matter development. Early identification could lead to earlier interventions and better outcomes.

      Researchers are exploring various ways to detect autism in infants through brain-based biomarkers, even before a diagnosis can be made. These measures include studying brain development using techniques like MRI and investigating differences in white matter development between 6 and 12 months of age. Autism is believed to affect neuroconnectivity, particularly in areas related to social interaction and communication, which require precise coordination among multiple brain regions. Studies often focus on high-risk infants with an older sibling diagnosed with autism, allowing researchers to track brain development and identify potential differences when a diagnosis is later made. Babies are easier to study than adults, and while techniques like fMRI are challenging with adults, they are more feasible with infants. The toddler period can be more difficult due to their restlessness. Overall, researchers are making progress in identifying early brain-based markers of autism, which could lead to earlier interventions and better outcomes.

    • Analyzing Infant Health Records for Autism RiskResearchers analyze medical records to predict autism risk in infants, using indicators like GI issues, motor development difficulties, and sleep disruptions. Early detection and intervention can improve outcomes.

      Autism is a complex condition affecting various brain regions, leading to challenges in social interaction and communication, but also offering unique strengths and talents. Researchers are exploring ways to detect autism risk in infants through analyzing their medical records, as early health indicators like GI issues, motor development difficulties, and sleep disruptions can predict a higher likelihood of diagnosis. This approach allows computers to process vast amounts of data, helping healthcare professionals identify and intervene earlier.

    • Using data and AI for earlier and more accurate autism diagnosesResearchers use health data and machine learning algorithms to identify patterns distinguishing autism from other conditions, improving diagnosis timing and effectiveness through clinical decision support and computer assessments.

      Researchers are using data and artificial intelligence to predict autism diagnoses earlier and more accurately. They gather health data such as diagnostic codes, visits, medications, and procedures, and use machine learning algorithms to identify patterns that distinguish autism from other conditions. For instance, babies with later autism diagnoses are more likely to have visited the emergency room by age 1 due to impulsive behavior. This information can be combined with clinical decision support, alerting pediatricians to potential risks and suggesting actions. Another approach involves measuring early behavioral signs using computer assessments, which can improve the timing and effectiveness of interventions. Researchers are also working to expand these efforts with additional funding. Overall, these advances have the potential to significantly improve the diagnosis and treatment of autism.

    • Limitation of autism screening tools and the need for improved methodsWhile tools like the M CHAT are useful, they have limitations in identifying autism, leading to missed referrals and false positives. Researchers are developing computer vision methods to directly observe children's behavior for more efficient and accurate identification.

      While screening tools like the Modified Checklist for Autism in Toddlers (M CHAT) are valuable, they have limitations. About 60% of the time, a positive screen doesn't lead to a referral due to various reasons including lack of confidence in interpreting results, difficulty in accessing services, and the possibility of false positives. The M CHAT also has limitations in identifying autism in certain populations, such as families of color and girls. To address these challenges, researchers are developing methods to directly observe children's behavior using computer vision analysis. This involves using an app on a smartphone or tablet to show short movies designed to elicit autism-related behaviors, and then using computer vision to automatically code a wide range of behaviors. This method is more efficient and accurate than human observation, and has the potential to improve early identification of autism.

    • Earlier autism detection through movie-watching appsApps using AI analyze head turns during movie watching for subtle differences, enabling earlier autism detection for effective naturalistic interventions

      Technology is enabling earlier detection of autism in infants through apps that use artificial intelligence to analyze head turns during movie watching. This method can identify subtle differences in response time and frequency that clinicians may miss. Early diagnosis is crucial as it allows for early intervention using naturalistic developmental behavioral interventions. These interventions, which evolved from traditional applied behavior analysis, use play and naturalistic interactions to help babies develop an interest in people and improve communication skills. Parents are trained to use these strategies during everyday activities, making therapy more engaging and effective.

    • Engaging children with autism through everyday activitiesParents can use simple strategies during daily activities to boost social and communication skills in children with autism, such as turn-taking during reading time or joining in with their child's interests.

      Neurotypical infants learn through everyday interactions, and the same approach can be effective for children with autism. Parents can be taught simple strategies to facilitate social and communication development during their daily activities. For instance, during reading time, parents should sit facing their child, engaging them in turn-taking activities and imitating their vocalizations and actions. These methods, which can be easily learned by parents and delivered by therapists, have been shown to make a significant difference in children's outcomes. If a child is banging on something and not looking at the parent, the parent can join in by banging on a drum at the same time, which often leads to a fun, back-and-forth interaction. These techniques, which capitalize on the child's interests, are relatively easy to learn and have been proven effective in facilitating early social and communication development.

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