The Diagnostic Odyssey: Delays in Diagnosing Phelan-McDermid Syndrome

In this new episode, Dr. Lauren focuses on the diagnostic odyssey of getting a genetic diagnosis with Drs. Ame Shillington and Sheldon Garrison. Dr. Shillington is a clinical geneticist and assistant professor from Cincinnati Children’s Hospital Medical Center. Dr. Garrison is Research Scientist at Rogers Behavioral Health who is on our Scientific Advisory Committee.

Did You Know!?

• The average delay from initial concern to genetic diagnosis of rare disorders like Phelan-McDermid syndrome is over 9 years!
• Of individuals who receive a genetic diagnosis due to neurodevelopmental concerns, approximately 90% see improvement in their treatment management and care after receiving the diagnosis! 

Tune in to hear more about the research behind the delayed diagnosis of rare genetic disorders like Phelan-McDermid syndrome, and what each is doing to help reduce this delay and increase access to genetic testing! 

Check out the papers mentioned in the podcast below to learn more:

Dr. Sheldon Garrison: https://pubmed.ncbi.nlm.nih.gov/40750893/ 

https://pubmed.ncbi.nlm.nih.gov/40252994/

Dr. Ame Shillington: https://pubmed.ncbi.nlm.nih.gov/37642312/ 

https://pubmed.ncbi.nlm.nih.gov/35769998/