Description: The advancement of broad molecular testing has allowed for rapid growth in the identification of neurodevelopmental disorders caused by underlying chromosomal or single gene differences, even in the absence of visible congenital anomalies. This talk will provide definitions of “neurodevelopmental disorder (NDD),” explain the role of the genetics evaluation in workup of NDDs, give an overview of currently available testing modalities, and highlight how closure to a diagnostic odyssey can positively impact patients and their families. This discussion will seek to deepen the understanding of what a genetics evaluation looks like and attempt to provide context for the importance of genetic testing.
The presenter will:
1. Define “neurodevelopmental disorder” and give examples of different types.
2. Explain why genetic testing is offered to patients with neurodevelopmental disorders and their families.
3. Describe some of the first-tier genetic testing modalities for neurodevelopmental disorders.
Handouts
Genetic Approach to Neurodevelopmental Disorders
(2.20 MB)
Dr. Linda Rossetti is a board-certified pediatrician and medical geneticist at Spectrum Health Helen DeVos Children’s Hospital in Grand Rapids, Michigan, and an assistant professor in the department of pediatrics and human development at Michigan State University. She attended the University of Michigan for her undergraduate degree in Biology. She then attended medical school at Michigan State University College of Human Medicine before completing a combined residency in pediatrics and medical genetics at Baylor College of Medicine and Texas Children’s Hospital in Houston, Texas. Her clinical interests include the genetics of autism spectrum disorder and intellectual disability, multiple congenital anomaly syndromes, and differences of sex development.
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