10:00 am to 12:00 pm (Eastern Time)

Genetic Causes of Autism and Related Neurodevelopmental Disorders

Featured Speaker — David H. Ledbetter, Ph.D., FACMG
Professor, Department of Clinical Sciences, Associate Director, Insitute for Pediatric Rare Diseases, Florida State University College of Medicine

It is now clear that at least 20% of children with autism spectrum disorders have an underlying rare genetic disease which can be identified by routine clinical genetic testing (i.e., exome or genome sequencing) which is paid for by insurance (e.gl. Florida Blue) or Florida Medicaid. Knowledge of this specific genetic etiology for the ASD “symptom” is very valuable in predicting the natural history, anticipating medical co-morbidities, and allowing families to contact dozens to hundreds of families worldwide with the identical genetic condition. This testing is standard of care and can be ordered by any physician (i.e., does not need a genetics clinic visit or consultation). Families, teachers, and non-physician health providers should proactively seek genome sequencing for all children with ASD.

Learner Outcomes

Learners will be able to:

1. Describe that half of our 20,000 human genes are involved in brain development and function, so that disease-causing changes (mutations) can affect cognitive performance as well as social behavior and skills.
2. Express that current clinical genetic testing by exome or genome sequencing is standard of care for all children with unexplained developmental delay, intellectual disability, autism spectrum disorder, epilepsy, and cerebral palsy.
3. Advocate for genome sequencing through a child’s pediatrician or other physician.

12:45 pm to 2:15 pm (Eastern Time)

The crisis of access to early diagnosis of autism and emerging solutions.

Featured Speaker — Ami Klin, Ph.D.
Georgia Research Alliance Eminent Scholar Professor and Chief of the Division of Autism and Developmental Disabilities at Emory University School of Medicine

This presentation will focus on studies validating social visual engagement, the moment-by-moment way children look at and learn about their social surroundings, as a quantitative biomarker for autism. Leveraging this science, we have now developed and validated an eye-tracking-based tool for the diagnosis and assessment of autism in 16-30-month toddlers. Following 2 multi-site, prospective, double-blind clinical trials involving >1,600 toddlers, including 3 independent cohorts and 3 replications, this tool showed accuracy of a quantitative diagnostic classifier, and of 3 quantitative indices of severity: social disability proxying the total score of the ADOS-2, and verbal and non-verbal age equivalents proxying the verbal and non-verbal scales of the Mullen. This tool was cleared by the US FDA in July of 2023, and it has been in clinical use in the US since August of 2023. Results of the trials appeared in simultaneous publications in JAMA and JAMA Network Open in September of 2023.

Learner Outcomes

Learners will be able to:

1. Recognize the early symptoms of autism, and the typical priorities for treatment and intervention.
2. Explain new advances capitalizing on eye-tracking research of early social development to generate cost-effective and community-viable solutions to increase access to early detection and diagnosis for young children with autism and related social-communication and language delays.
3. Describe EarliPoint, an objective, standardized, quantitative, and cost-effective tool for the early diagnosis and assessment of autism, the clinical validation data that led to its FDA clearance for broad use in the community, and its potential for making the diagnostics process more efficient and accessible, while maintain high quality.

2:30 pm to 4:00 pm (Eastern Time)

Considerations in the Assessment and Treatment of Complex Behaviors Exhibited by Children with Developmental Disabilities

Featured Speaker — Colin Muething, Ph.D., BCBA-D
Associate Professor in the Department of Pediatrics at Emory University School of Medicine

This presentation will detail considerations for clinicians who work with children with developmental disabilities who also engage in complex behaviors. Complex behaviors occur for a reason. Participants will learn ways to assess to determine the reason and then how to design individualized intervention strategies based on the assessment. Finally, participants will learn many considerations to take before and during generalization of treatment gains into more natural environments.

Learner Outcomes

Learners will be able to:

1. Detail how to assess forms of complex behavior and how to visually analyze graphical depictions of assessment data.
2. Describe how to use the results of the assessment to design intervention strategies.
3. Discuss considerations for generalization of treatments to natural environments.