2023 AES: AES-CNF Symposium | Dilemmas in Genetic Testing: Ending the Diagnostic Odyssey in Epilepsy-Dilemmas in Clinical Care Scenarios

Video Transcription

Video Summary

The discussion centered around complex case scenarios involving children with genetic conditions. The speaker emphasized the role of genetic testing in uncovering developmental disorders and the challenges of prognosis in genetic syndromes with variable clinical presentations. Key insights included the importance of continual literature review and expert collaboration when managing unique genetic findings. One case highlighted an 8-year-old girl diagnosed with GNB1 encephalopathy, underscoring the relief a genetic diagnosis can provide for families seeking answers. Another case involved a nine-month-old with a YWHAG gene mutation, where ongoing monitoring was emphasized due to varying prognoses. A third case featured a misdiagnosis of cerebral palsy in a girl with undiagnosed polymicrogyria, transforming her family’s understanding of her condition. The discussion underscored the importance of thoughtful communication with families, leveraging parent advocacy groups, and consulting genetic experts to inform care and prognosis.

Asset Subtitle

Presenter: Dalila Lewis, MD, FAAP

Keywords

genetic conditions

genetic testing

developmental disorders

GNB1 encephalopathy

YWHAG gene mutation

polymicrogyria