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DTSTART:19700308T020000
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DTSTAMP:20241017T183511Z
LOCATION:Harbor Ballroom A
DTSTART;TZID=America/Los_Angeles:20241015T144500
DTEND;TZID=America/Los_Angeles:20241015T150500
UID:ncs_NCS 2024_sess108_ccrnt290@linklings.com
SUMMARY:Precision Pediatric NeuroCritical Care: Integrating Rapid Genetic 
 Testing for Critically Ill Children
DESCRIPTION:Breakout Session\n\nDivakar Mithal (Lurie Children's Hospital,
  Northwestern University)\n\nPatients with genetic disorders comprise a si
 gnificant population in the Pediatric Intensive Care Unit (PICU), with neu
 rologic disorders heavily represented. This talk will use case studies to 
 explore the profound impact of advancements in genetic testing for critica
 lly ill children with neurologic conditions.\n\nRecent years have witnesse
 d the emergence of rapid genetic testing, providing results within days, a
 s a powerful diagnostic tool in critical settings. This allows clinicians 
 to identify genetic abnormalities and hereditary conditions in pediatric p
 atients with unprecedented precision, transforming diagnosis, prognosis, a
 nd interventions, particularly for neurologic diseases.\n\nThe discussion 
 will start by demonstrating that the PICU has been a primary site for mana
 ging children with genetic disorders and that neurocritical care is centra
 l to diagnosing genetic etiologies for critical illnesses. Next, the seque
 ncing tools and analytic techniques required for rapid next-generation seq
 uencing will be introduced. The recent literature on the impact of rapid n
 ext-generation sequencing on revolutionizing diagnosis and shortening hosp
 ital courses will be reviewed. Additionally, the challenges and barriers s
 pecific to genetic studies will be addressed. Lastly, the talk will emphas
 ize the fundamental need for neuro-intensivists as part of interdisciplina
 ry collaboration to interpret genetic data and form tailored treatment str
 ategies.\n\nThe three cases presented will be: epileptic encephalopathy; m
 etabolic disorder and neuromuscular disorder. Participants will appreciate
  genetic mechanisms and pathophysiology and the links to personalized trea
 tment with precision medicine.\n\nThis talk aims to increase awareness, un
 derstanding, and integration of genomic medicine into pediatric neurocriti
 cal care, advancing the field and improving care for children with neurolo
 gic disorders.\n\nTrack: Clinical Practice\n\nFocus Area: Coma, Multimodal
  Neuromonitoring (invasive/non-invasive), Pediatric, Provider Education To
 pics (eg fellowship training, competency assessment, etc), Status Epilepti
 cus\n\nTarget Audience: Intermediate\n\nSession Chair: Mark Wainwright (Un
 iversity of Washington, Seattle Childrens Hospital)
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