Tag Archive for: Schreiber

Children’s National Hospital to host 35th Annual Pediatric Neurology Update

illustration of the brain on black backgroundThe Divisions of Neurology and Neurosurgery at Children’s National Hospital are proud to host the 35th Annual Pediatric Neurology Update course.

Chair Elizabeth Wells, MD; Co-Chairs, Marc DiSabella, DO, John Schreiber, MD, William D. Gaillard, MD, Robert Keating, MD

The course attracts a national audience and brings together neuroscience clinicians and pediatricians in the Washington, D.C. and Mid-Atlantic region.

Guest speakers include Annapurna Poduri, MD, MPH, Deputy Director for NINDS, Emily Freilich, MD, from the FDA and Conor Mallucci, MBBS, Chief of Neurosurgery at Alder Hays, England.

This year’s course highlights 3 major areas:

  • Updates in Epilepsy
  • Innovations in Vascular Neurosurgery and Neurointerventional Radiology
  • Addressing Mental and Behavioral Health in Neurological Conditions

We invite you to join us for presentations from experts in the field during this full-day, CME accredited event on April 10, 2025. This is a hybrid event that will be held virtually or in-person at the Children’s National Research & Innovation Campus.

For more information and to register, visit ChildrensNational.org/NeurologyUpdate.

Advancing epilepsy care: Highlights from the 2024 American Epilepsy Society Conference

Dr. Gaillard, Dr. Schreiber and Dr. Cohen from Children’s National Hospital at the 2024 American Epilepsy Society meeting.

Dr. Gaillard, Dr. Schreiber and Dr. Cohen from Children’s National Hospital at the 2024 American Epilepsy Society meeting.

The 2024 American Epilepsy Society (AES) conference, held over five days, brought together healthcare professionals, scientists and industry leaders from around the globe. This annual event focuses on advancing outcomes for people with epilepsy through educational sessions, cutting-edge research and the latest technological innovations.

Recognized amongst his peers as an international leader in epilepsy research, William D. Gaillard, M.D., was honored with the 2024 Clinical Science Research Award at this year’s meeting. His pioneering work has significantly enhanced our understanding of epilepsy’s impact on brain structure and has led to improvements in surgical interventions and patient outcomes. Dr. Gaillard’s ongoing contributions to enhancing the lives of children with epilepsy earned him the Society’s most prestigious research award.

Dr. Gaillard serves as chief of the Divisions of Child Neurology and of Epilepsy and Neurophysiology, Director of the Comprehensive Pediatric Epilepsy Program and Associate Director of the Center for Neuroscience Research at Children’s National Hospital.

In addition to Dr. Gaillard, experts from the Comprehensive Pediatric Epilepsy Program at Children’s National were invited to present their research, insights and innovations during the conference. As a recognized Level 4 epilepsy center by the National Association of Epilepsy Centers, the program’s collaborative team is recognized worldwide for their leadership in improving the lives of children with epilepsy through personalized care, advanced technology and groundbreaking research.

Highlights from AES 2024 include:

Sanam Zarei, M.D., Children’s National Hospital Neurology fellow, presenting a poster at AES 2024.

Dr. Zarei, Children’s National Hospital Neurology fellow, presenting a poster at AES 2024.

Poster presentations:

  • Asymmetrical Hippocampal-cortical Connectivity Along Lateral-Medial Axis in Pediatric Focal Epilepsy Patients by Hua Xie, Ph.D., Chloe A. Hooker, William D. Gaillard, M.D.
  • Comorbidities and Concerns in Hypothalamic Hamartoma: Results of an International Caregiver Survey by Nathan Cohen, M.D.
  • Automated and Interpretable Detection of Hippocampal Sclerosis in temporal lobe epilepsy: AID-HS by Nathan Cohen, M.D.
  • Characteristics and Outcomes of Pediatric Patients with Prolonged Convulsive Status Epilepticus by William D. Gaillard, M.D.
  • High Accuracy for Detecting Tonic Clonic seizures (TCSs) Using an Apple Watch Seizure Detector by Dewi Depositario-Cabacar, M.D., William Gaillard, M.D.
  • Patient and Pre-surgical Testing Characteristics Contributing to Duration of Evaluation: Identifying Best Practices and Opportunities to Streamline Pediatric Epilepsy Surgery Evaluation by Dewi Depositario-Cabacar, M.D., William Gaillard, M.D.
  • Seizure Burden in Infants with Hemimegaloencephaly pre- and post Staged Transarterial Embolization by Ersida Buraniqi, M.D., Shani Israel, Lindsay Ruffini, CPNP, CPNP-AC, CPNP-PC, Tammy Tsuchida, M.D., Ph.D., Tayyba Anwar, M.D.
  • Acute Postoperative Seizures (APOS) in Pediatric Epilepsy Surgery Occurring Less Than 7 Days versus Greater Than 7 to 30 Days: Is There a Difference in Long Term Outcome? by Sanam Zarei, M.D., Kathryn Havens, PA-C, Nathan Cohen, M.D., John Schreiber, M.D., Thuy-Anh Vu, M.D., William Gaillard, M.D., Dewi Depositario-Cabacar, M.D.

Invited speakers and topics:

  • Speaker: John Schreiber, M.D., Moving Forward: Epilepsies with Concomitant Movement Disorders
  • Speaker: Laura Tochen, M.D., Moving Forward: Epilepsies with Concomitant Movement Disorders
  • Speaker: William Gaillard, M.D., US Health Care Inequities for People with Epilepsy
  • Session Moderator: Nathan Cohen, M.D., Neuroimaging

Learn more about the Comprehensive Pediatric Epilepsy Program at Children’s National Hospital.

In the news: The role of genetic testing in pediatric epilepsy diagnosis and treatment

illustration of brain with brainwaves

Given the wide variety of potential causes and seizure types, diagnosing pediatric epilepsy can be complex.

Pediatric epilepsy affects approximately 0.5-1% of children, with an increased prevalence in those with developmental disabilities. Epilepsy’s pathophysiology involves a range of factors including genetic mutations, structural brain abnormalities and metabolic disorders. Given the wide variety of potential causes and seizure types, diagnosing pediatric epilepsy can be complex.

Previously, finding the cause of pediatric epilepsy often involved laborious, piecemeal metabolic and chemical tests, making the process complicated for both patients and families. Technological advancements over the past decade, such as next-generation sequencing, have made genetic testing a vital tool in diagnosing and managing the disease through personalized treatment, leading to better outcomes.

In recent discussions, John Schreiber, M.D., explores the impact of genetic testing on pediatric epilepsy, highlighting its benefits, challenges and evolving role in treatment. Dr. Schreiber serves as Associate Chief of Epilepsy and Electroencephalography Operations, Medical Director of Electroencephalography and Medical Director of the Epilepsy Genetics Program at Children’s National Hospital.

“Genetic testing is becoming easier and less expensive to perform in patients with unexplained epilepsies, and thankfully now is being used much earlier in a patient’s epilepsy course,” Dr. Schreiber says. “It’s important to try to make that diagnosis early so we can ensure patients have the appropriate interventions early and avoid unnecessary tests and things that they don’t need.”

You can watch the full dialogue, “The Role of Genetic Testing on the Management Pediatric Epilepsy” on NeurologyLive.

Speckle tracking echo reveals possible biomarker for SUDEP risk

EEG with electrical activity of abnormal brain

A study published in the journal Epilepsia used speckle tracking echocardiography to detect subtle changes in heart function found in pediatric patients with refractory epilepsy when compared to controls. Children with refractory epilepsy had impaired systolic ventricular strain compared to controls, not correlated to epilepsy history. These differences in ventricular function may be a biomarker that can indicate someone with epilepsy is at higher risk for Sudden Unexpected Death in Epilepsy (SUDEP).

Speckle tracking echocardiography is a non-invasive technique where software automatically identifies and tracks individual “speckles” of the myocardial wall on a routine echocardiogram in order to directly quantify the extent of contraction.

The study’s first authors, John Schreiber, M.D., medical director of Electroencephalography (EEG) and director of the Epilepsy Genetics program, and Lowell Frank, M.D., advanced imaging cardiologist and director of the Cardiology Fellowship Training program, both at Children’s National Hospital, answered some questions about the study findings.

Why is this important work?

Sudden unexpected death in epilepsy (SUDEP) is a rare but devastating consequence of epilepsy. Some of the proposed mechanisms of SUDEP implicate brain stem, cardiac and respiratory pathways.

This study identified alterations in ventricular function that may serve as one potential biomarker for SUDEP risk that can be evaluated non-invasively and regularly.

How will this work benefit patients?

Identification of children or adults with markedly impaired ventricular strain or diastolic function may provide the opportunity to implement a targeted treatment or monitoring strategy to prevent SUDEP.

What did you find that excites you? What are you hoping to discover?

These differences in cardiac strain were true for all patients with refractory epilepsy as a whole, not one particular group. This suggests that refractory convulsive epilepsy itself, rather than other patient-specific factors, produces these changes. Thanks in part to a grant from the Dravet Syndrome Foundation, the team is currently examining a cohort of patients with epilepsy due to pathogenic variants in sodium channel genes, SCN1A and SCN8A, to determine if these patients have greater degrees of impaired cardiac strain. SCN1A and SCN8A are also expressed in the heart, and patients have a considerably higher risk of SUDEP. It will be particularly exciting to examine for differences in specific genetic epilepsies.

How is this work unique?

Strain has been evaluated in many disease states in adult and pediatric populations and may be more sensitive to early myocardial damage than traditional measures of systolic and diastolic function. Children’s National Hospital has been an innovator in using speckle tracking echocardiography and similar techniques to evaluate subtle changes in heart function. This study is a great example of collaboration between The Comprehensive Pediatric Epilepsy Program and the Children’s National Heart Institute that is driving innovative research at Children’s National Hospital.

New study to raise profile of SCN8A-related disorders

John Schreiber

“The Cute Syndrome Foundation reached out because children with this disorder are dying. They were hoping to find a way to make more people, especially medical professionals, aware of this disorder and treatment recommendations,” said John Schreiber, M.D.

Children’s National Health System is proud to share that they have launched into a 6-month pilot research program to evaluate and improve education and access to care for SCN8A-related epilepsy. Due to advances in genetic testing, more patients with SCN8A mutations and other rare genetic epilepsies are being discovered all the time.

The research for the pilot program is being led by John Schreiber, M.D., assistant professor of neurology and pediatrics and director of the epilepsy genetics program at Children National. Dr. Schreiber will help to develop a more focused effort to provide families and clinicians with the Clinician Information and Reference Guide that was created by The Cute Syndrome Foundation. The goal of the information is to provide families and clinicians with a guide to remove barriers to access expert care.

“The Cute Syndrome Foundation reached out because children with this disorder are dying. They were hoping to find a way to make more people, especially medical professionals, aware of this disorder and treatment recommendations,” said Dr. Schreiber. “We’re at a critical point of collecting information as patients from around the world are looking at Children’s National as a leader to combat this type of disorder.”

As the first study of its kind in a rare genetic epilepsy, the pilot will provide the opportunity for future interventions that will help elevate the profile of SCN8A-related disorders, improve overall patient outcomes and facilitate collaborative partnerships that focus on research and on supporting positive outcomes for patients.

To help uncover barriers to accessing expert advice, the SCN8A survey was given out to over 200 health care professionals at Children’s National 2019 Pediatric Neurology Update meeting. Specifically, the study will help doctors at Children’s National increase provider knowledge of SN8A-related disorders, improve utilization of appropriate anti-seizure therapies and may ultimately end up reducing mortality.

Children’s National received a gift of $15,397 to establish the SCN8A Education and Research Fund, which will support research within the Comprehensive Pediatric Epilepsy Program to evaluate access to and increase awareness of SCN8A epileptic encephalopathy and treatment recommendation from experts in the field. The funds will be used for personnel, technology and material costs associated with the research.