2024 Annual Meeting | S8 - State-of-the-art Diagnostics in Child Neurology

Date Sunday 04/14/24

Time 03:30 PM - 05:30 PM MDT Add To Calendar

Session Format This program will be presented both in-person and online

On Demand This program will be available in the meeting's On Demand product.

Event Type Scientific Platform Session

Moderator(s) Kapil Arya, MBBS, DA, FAAP, FACNS, FAAN, Sunil C. Naik, MD

Topic(s) Child Neurology and Developmental Neurology

Learning Objectives A group of abstracts covering a similar topic will be presented in an eight-minute oral format followed by four minutes of question and answer with the author.

CME Available 2.00 CME credits

Program Evaluations

Event Timeline
03:30 PM - 03:42 PM MDT	Abstract	001 - Functional Connectivity Between Tubers and the Somatomotor Areas and Cerebellum Is Associated with Impaired Social Affect in Tuberous Sclerosis Complex Wendy X. Herman, MD, PhD
03:42 PM - 03:54 PM MDT	Abstract	002 - Whole Exome and Whole Genome Sequencing for the Diagnosis of Mitochondrial Diseases in Critically Ill Children Mallory J. Owen, MD
03:54 PM - 04:06 PM MDT	Abstract	003 - Phenotypic Variability in Patients with Pathogenic Variants in ATP1A2 and ATP1A3 Alyssa Domingue, MD
04:06 PM - 04:18 PM MDT	Abstract	004 - Functional Evaluation of CIC Missense Mutations Identified in Neuropsychiatric Disorders Mark Durham, PhD
04:18 PM - 04:30 PM MDT	Abstract	005 - Oligoclonal Bands, Age 11-17 Years, Occipital Lesion, and Female Sex Differentiate Pediatric Multiple Sclerosis from Acute Disseminated Encephalomyelitis: A Nationwide Cohort Study Magnus Spangsberg Boesen, MD
04:30 PM - 04:42 PM MDT	Abstract	006 - School Performance and Psychiatric Comorbidity in Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy: A Danish Population-based Cohort Study Magnus Spangsberg Boesen, MD
04:42 PM - 04:54 PM MDT	Abstract	007 - Investigating Metabotropic Glutamate Receptor 5 (mGluR5) in Autism Spectrum Disorder with [18F]FPEB PET Imaging Faranak Ebrahimian Saadabad
04:54 PM - 05:06 PM MDT	Abstract	008 - Monoaminergic Network Abnormalities Explain Fatigue in Pediatric Multiple Sclerosis Monica Margoni
05:06 PM - 05:18 PM MDT	Abstract	009 - Growth in Youths with Intellectual/Developmental Disabilities- Assistance Navigating Competitive Employment (GUIDDANCE) Elijah W. Hale
05:18 PM - 05:30 PM MDT	Abstract	010 - A Case Series of Neonates with Deep Medullary Vein Thrombosis Gabby Barsh, MD, PhD

Faculty Disclosures
Shashidhar Kori, MD	Dr. Kori has received personal compensation for serving as an employee of Novilla Pharma. Dr. Kori has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Satsuma Pharma. Dr. Kori has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Tonix Pharma. Dr. Kori has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Exalys Pharma. Dr. Kori has received personal compensation in the range of $0-$499 for serving as a Consultant for NewBio Pharma. Dr. Kori has received personal compensation in the range of $0-$499 for serving as a Consultant for Afsci Pharma. Dr. Kori has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Trigemina Inc. Dr. Kori has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for Novilla Pharma. Dr. Kori has received stock or an ownership interest from Novilla Pharma. Dr. Kori has received stock or an ownership interest from NewBio Pharma. Dr. Kori has received stock or an ownership interest from Tonix Pharma. Dr. Kori has received intellectual property interests from a discovery or technology relating to health care. Dr. Kori has received intellectual property interests from a discovery or technology relating to health care. Dr. Kori has received personal compensation in the range of $0-$499 for serving as a Reviewer of grant applications with Department of Defense.
David S. Zee, MD	Dr. Zee has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for florida legal. Dr. Zee has received publishing royalties from a publication relating to health care. Dr. Zee has received personal compensation in the range of $500-$4,999 for serving as a lectuer with u of pittsburg physical therapy. Dr. Zee has received personal compensation in the range of $500-$4,999 for serving as a lecturer with johms hopkins CME.
Huda Zoghbi, MD	Dr. Zoghbi has received personal compensation in the range of $50,000-$99,999 for serving on a Scientific Advisory or Data Safety Monitoring board for TCG. Dr. Zoghbi has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Cajal Neuroscience. Dr. Zoghbi has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Lyterian. The institution of Dr. Zoghbi has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Neurogene. Dr. Zoghbi has received personal compensation in the range of $100,000-$499,999 for serving as an officer or member of the Board of Directors for Regeneron. The institution of Dr. Zoghbi has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Annual Review of Neuroscience . The institution of Dr. Zoghbi has received research support from Ionis. The institution of Dr. Zoghbi has received research support from UCB. Dr. Zoghbi has received intellectual property interests from a discovery or technology relating to health care. Dr. Zoghbi has received publishing royalties from a publication relating to health care.
E M. Bebin, MD, FAAN	Dr. Bebin has received personal compensation for serving as an employee of Springworks Therapeutics. Dr. Bebin has received personal compensation for serving as an employee of Apertura Gene Therapy. Dr. Bebin has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Springworks Therapeutics. Dr. Bebin has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Apertura. The institution of Dr. Bebin has received research support from NINDS. The institution of Dr. Bebin has received research support from FDA Orphan Drug Program.
Peter A. Calabresi, MD, FAAN	Dr. Calabresi has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Novartis. Dr. Calabresi has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Lilly. Dr. Calabresi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Idorsia. An immediate family member of Dr. Calabresi has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for MyMD. Dr. Calabresi has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Myelin Repair Foundation. The institution of Dr. Calabresi has received research support from Genentech. Dr. Calabresi has received publishing royalties from a publication relating to health care. Dr. Calabresi has received personal compensation in the range of $500-$4,999 for serving as a Study Section Member with NIH. Dr. Calabresi has received personal compensation in the range of $500-$4,999 for serving as a Grant reveiwer with Myelin Repair Foundation. Dr. Calabresi has received personal compensation in the range of $500-$4,999 for serving as a Speaker for CME with NYAS. Dr. Calabresi has received personal compensation in the range of $500-$4,999 for serving as a Speaker with Academic CME.
Richard H. Haas, MD	Dr. Haas has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for SPARC. Dr. Haas has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB Pharma. Dr. Haas has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Various Law Firms. Dr. Haas has stock in Various Companies Stock Trading. The institution of Dr. Haas has received research support from NIH North American Mitochondrial Disease Consortium. The institution of Dr. Haas has received research support from Reneo Pharma. The institution of Dr. Haas has received research support from Astellas Pharma. The institution of Dr. Haas has received research support from Acadia Pharma. The institution of Dr. Haas has received research support from Taysha Gene Therapies. The institution of Dr. Haas has received research support from Tisento Pharma.
Massimo Filippi, MD, FAAN	Dr. Filippi has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alexion, Almirall, Biogen, Merck, Novartis, Roche, Sanofi. Dr. Filippi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion, Biogen, Bristol-Myers Squibb, Merck, Novartis, Roche, Sanofi, Sanofi-Aventis, Sanofi-Genzyme, Takeda. Dr. Filippi has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Bayer, Biogen, Celgene, Chiesi Italia SpA, Eli Lilly, Genzyme, Janssen, Merck-Serono, Neopharmed Gentili, Novartis, Novo Nordisk, Roche, Sanofi, Takeda, and TEVA. Dr. Filippi has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Springer Nature. The institution of Dr. Filippi has received research support from Biogen Idec, Merck-Serono, Novartis, Roche, the Italian Ministry of Health, the Italian Ministry of University and Research, and Fondazione Italiana Sclerosi Multipla.
Joyce Y. Wu, MD	Dr. Wu has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biocodex. Dr. Wu has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Marinus. The institution of Dr. Wu has received research support from National Institutes of Health. Dr. Wu has received personal compensation in the range of $500-$4,999 for serving as a Study section member with National Institutes of Health.
Mustafa Sahin, MD, PhD	Dr. Sahin has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Regenxbio . Dr. Sahin has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Centene. Dr. Sahin has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Celgene. Dr. Sahin has received personal compensation in the range of $500-$4,999 for serving as an officer or member of the Board of Directors for PTEN Research. Dr. Sahin has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier. The institution of Dr. Sahin has received research support from NIH. The institution of Dr. Sahin has received research support from Tuberous Sclerosis Alliance. The institution of Dr. Sahin has received research support from Charities Aid Foundation. The institution of Dr. Sahin has received research support from Simons Foundation Autism Research Initiative. The institution of Dr. Sahin has received research support from Aucta Pharmaceuticals . The institution of Dr. Sahin has received research support from Loulou Foundation.
Lucia Moiola, MD, PhD	Dr. Moiola has nothing to disclose.
Maria A. Rocca	Maria Assunta Rocca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen, Bristol Myers Squibb, Eli Lilly, Janssen, Roche. Maria Assunta Rocca has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for AstraZaneca, Biogen, Bristol Myers Squibb, Bromatech, Celgene, Genzyme, Horizon Therapeutics Italy, Merck Serono SpA, Novartis, Roche, Sanofi and Teva. The institution of Maria Assunta Rocca has received research support from MS Society of Canada, the Italian Ministry of Health, the Italian Ministry of University and Research, and Fondazione Italiana Sclerosi Multipla.
Michael D. Fox, MD, PhD	Dr. Fox has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Wiley.
Darcy Krueger, MD	Dr. Krueger has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for NobelPharma USA. Dr. Krueger has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for RegenxBio. Dr. Krueger has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis Pharmaceuticals. Dr. Krueger has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Greenwich Biosciences. The institution of Dr. Krueger has received research support from Greenwich Bioscience. The institution of Dr. Krueger has received research support from Marinus Pharmaceuticals. The institution of Dr. Krueger has received research support from National Institutes of Health. The institution of Dr. Krueger has received research support from Food and Drug Administration. The institution of Dr. Krueger has received research support from TSC Alliance.
Melinda Magyari, MD	Dr. Magyari has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. Magyari has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Merck. Dr. Magyari has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Magyari has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck. Dr. Magyari has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Magyari has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Dr. Magyari has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. Dr. Magyari has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Bristol Myers Squibb. The institution of Dr. Magyari has received research support from The Danish MS Society. The institution of Dr. Magyari has received research support from Biogen. The institution of Dr. Magyari has received research support from Novartis. The institution of Dr. Magyari has received research support from Roche. The institution of Dr. Magyari has received research support from Merck. The institution of Dr. Magyari has received research support from Sanofi.
Jurriaan Peters, MD	Dr. Peters has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurelis. Dr. Peters has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Neurelis. Dr. Peters has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Neurelis.
Maniyar Farooq	No disclosure on file
Kapil Arya, MBBS, DA, FAAP, FACNS, FAAN	Dr. Arya has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Genentech. Dr. Arya has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Arya has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Scholar Rock.
Shin C. Beh, MD, FAAN	Dr. Beh has received publishing royalties from a publication relating to health care.
Sunil C. Naik, MD	Dr. Naik has nothing to disclose.
Darrel Conger	No disclosure on file
Jesse Levine, MD, PhD	Dr. Levine has nothing to disclose.
Morten B. Blinkenberg, MD, PhD	The institution of Morten Bjorn Blinkenberg, MD, PhD has received research support from Danish MS Society.
Alexander L. Cohen, MD, PhD, FAAN	The institution of Dr. Cohen has received research support from NIH. The institution of Dr. Cohen has received research support from Simons Foundation.
	No disclosure on file
Daniel Calame, MD, PhD	Dr. Calame has nothing to disclose.
Monica Margoni	Monica Margoni has received research support from MAGNIMS. Monica Margoni has received research support from Merck-Serono. Monica Margoni has received research support from Sanofi-Genzyme.
Ria Pal, MD	Dr. Pal has nothing to disclose.
Elizabeth Mayne, MD	Dr. Mayne has received research support from NINDS-CNCDP K12.
Jessica Sanders, MD	The institution of Dr. Sanders has received research support from Child Neurology Foundation.
Magnus Spangsberg Boesen, MD	Dr. Spangsberg Boesen has nothing to disclose.
Jennifer H. Yang, MD	Dr. Yang has received research support from Pediatric Epilepsy Research Foundation. Dr. Yang has received research support from NIH.
Gabby Barsh, MD, PhD	Dr. Barsh has nothing to disclose.
Sahla El Mahdaoui, MD	Dr. El Mahdaoui has received personal compensation in the range of $500-$4,999 for serving as a Speaker's honoraria with Merck.
Wendy X. Herman, MD, PhD	Dr. Herman has nothing to disclose.
Damiano Mistri, MSC	Mr. Mistri has nothing to disclose.
David Matuskey, MD	Dr. Matuskey has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Eleisver. The institution of Dr. Matuskey has received research support from Abbvie.
Alyssa Domingue, MD	Dr. Domingue has nothing to disclose.
Yanghong Yang, MD	Dr. Yang has nothing to disclose.
Mallory J. Owen, MD	Dr. Owen has nothing to disclose.
Elijah W. Hale	Mr. Hale has nothing to disclose.
William Drew	Mr. Drew has nothing to disclose.
Soren K. Christensen, MD	Mr. Christensen has nothing to disclose.
Mark Durham, PhD	Dr. Durham has nothing to disclose.
Faranak Ebrahimian Saadabad	Mr. Ebrahimian Saadabad has nothing to disclose.
Gillian Miller	Ms. Miller has nothing to disclose.
Paola Valsasina	No disclosure on file
Simon Warfield	No disclosure on file
Nabeel Nabulsi	Nabeel Nabulsi has nothing to disclose.
Yiyun Huang	No disclosure on file
Annika Reynberg Langkilde	No disclosure on file
Jurgita Ilginiene	No disclosure on file
Hisham Dahmoush	No disclosure on file
Malene Landbo Børresen	No disclosure on file
Zhandong Liu	Zhandong Liu has nothing to disclose.
Hope Northrup	No disclosure on file
Richard E Carson	The institution of Richard E Carson has received research support from Cerevel. The institution of Richard E Carson has received research support from Pfizer.
Lau Thygesen	No disclosure on file
Emilie Schou	Emilie Schou has nothing to disclose.
Amalie Klein-Petersen	No disclosure on file
Melita Cacic Hribljan	No disclosure on file
Alfred Peter Born	Alfred Peter Born has nothing to disclose.
Hu Chen	No disclosure on file
Anthony Zoghbi	No disclosure on file
Hamin Lee	No disclosure on file
Jason Lucavs	No disclosure on file
James McPartland	No disclosure on file
Irina Esterlis	No disclosure on file
Paul Gravel	No disclosure on file
Adam Naples	No disclosure on file
Ansel Hillmer	No disclosure on file
Aryn Taylor	No disclosure on file
Kristen Torres	No disclosure on file
Cordelia Robinson Rosenberg	No disclosure on file
Stephen Kingsmore	Stephen Kingsmore has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Third Rock Ventures. Stephen Kingsmore has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AB2 Bio. Stephen Kingsmore has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Illumina. Stephen Kingsmore has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for ACMGG. Stephen Kingsmore has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Takeda. Stephen Kingsmore has received personal compensation in the range of $500,000-$999,999 for serving as an officer or member of the Board of Directors for Rady Children's Institute for Genomic Medicine. Stephen Kingsmore has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for Sidra Medicine. Stephen Kingsmore has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Springer Nature. The institution of Stephen Kingsmore has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Cold Spring Harbor Press. Stephen Kingsmore has stock in Third Rock Ventures. The institution of Stephen Kingsmore has received research support from Alexion, Amgen, Biomarin, Chiesi, Inozyme, Ionis, Mahzi, Orchard, Sanofi, Rocket, Sarepta, Sentynyl, Travere, Ultragenyx. The institution of Stephen Kingsmore has received research support from NIH. Stephen Kingsmore has received intellectual property interests from a discovery or technology relating to health care. Stephen Kingsmore has received intellectual property interests from a discovery or technology relating to health care.
Jim Ropchan	No disclosure on file
Alexander Trostle	No disclosure on file
Anna Eltvedt	Anna Eltvedt has nothing to disclose.
Maria Jose Miranda	Maria Jose Miranda has nothing to disclose.
Peter Uldall	No disclosure on file

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