CNS Connections Summer 2024 Issue-Public by CEVA Design

Bringing CNS Members Together to Make Children’s Lives Better

CONNECTING WITH...

4 Letter from the Executive Director

Scalable Growth: How CNS Is Building a Stronger Future for Child Neurology

6 Letter from the Editor Is it a Horrible Headache? Or a Horrible Haiku?

8 Research Focus

Unravelling the Complexities of Neuroinflammatory Disorders

10 Letter from the CNS Scientific Selection and Program Planning Committee Chair

A look at the scientic program offerings and the changes to the 53rd CNS Annual Meeting

12 CNS Board of Director Elections

Presenting the candidates’ biographies and visions for the future of the Society.

CRAFT

24 Synapses

When the Technology Changes, We Change with It

26 Synapses

Preventing the Problems of Tuberous Sclerosis Befor they Arise

28 Synapses

New Relief for Children with Migraine: Wearable Devices CALLING

30 2024 Child Neurology Society Awards

View this Year’s Awardee Profiles and the international and Junior Member Award Listings

48 2024 Pediatric Epilepsy Research Foundation and Child Neurology Society Grants

COMMUNITY

50 Letter from the Child Neurology Foundation President Providing Child and Family Support, Education, and Care Advancement

52 Child Neurology Foundation 2024 Grants and Scholarships

54 Association of Child Neurology Nurses Annual Conference Schedule

56 Association of Child Neurology Nurses Awards

59 New in CNS Connection Welcoming Sponsored Content from Our Industry Partners CAREERS

66 Personnel Directory Positions Available in Child Neurology

MAGAZINE

CNS Connections is the official news magazine of the Child Neurology Society. The title references the passionate professional interest members share in neural connections and their commitment to connecting to and staying connected with the peers, colleagues, mentors, mentees – and, above all else, friends – in the field with whom they share a career, craft, calling, and community.

Child Neurology Society 1915 West Highway 36, Suite 174 Roseville, MN 55113 Tel: 651/486-9447 Fax: 651/486-9436

nationaloffice@childneurologysociety.org www.childneurologysociety.org

EDITOR

Daniel Bonthius, MD, PhD

MANAGING EDITOR

Monique Terrell

PROOF EDITOR

Julianne Bruce

DESIGN AND LAYOUT

Kimberlea Weeks | CEVA Design

Published 3 times yearly

CNS EXECUTIVE DIRECTOR/CEO

Monique Terrell

Scalable Growth: How CNS Is Building a Stronger Future for Child Neurology

By the time you read this, I will have reached the midpoint of my second year as Executive Director and CEO of the Society. And what a time it has been! There is so much happening and so much opportunity on the horizon. I cannot express how much I appreciate you, our members, and your dedication and commitment to the Society and the child neurology community.

The desire to see growth in several different areas in our organization has struck me. I am committed to ensuring our growth is scalable – thoughtful and careful, while still agile enough to adapt during specific periods. Change can be challenging and surprising, but with that comes tremendous opportunity.

longevity. Change and growth will unfold over time, and with grace, we dedicate ourselves to being deliberate and considerate about our growth and the change it will require.

It is also important to recognize the centrality of commitment in our future planning. By instituting more formal processes for evaluating and deciding on whether to implement new ideas, we will know in advance whether a new idea (1) aligns with our mission and vision, (2) aligns with our strategic plan, and (3) is one that we can commit resources to over the time needed to launch a new initiative and help it become sustainable. We have achieved a great deal in a short time:

Not everything can happen all at once, and we want to avoid overwhelming the Society to the point of causing unintentional harm. If you approach me, a professional staff member, or a member leader with an idea for change or a new opportunity, know that we recognize your intent to help our Society grow and thrive. We fully support you in that aim, but we will often need additional time or information to consider and potentially implement a new idea.

At this stage of my tenure, I recognize the importance of grace. Grace is valuable and necessary. We must acknowledge that change is inevitable in our present and future times. It is our responsibility to ensure that change and growth occur in a way that promotes the Society’s

• We have restructured our governance, allowing members to apply for committee positions more transparently and ensuring a more regular rotation of committee appointments. Information on our new governance structure is now available on the CNS website.

• We have structured our committees more efficiently, enabling us to execute the Board’s strategic vision. This includes our new three-year strategic plan, approved by the Board this past April, which commits to ensuring long-term stability.

• We have extended our member profiles to gain a better understanding of our members from different demographic standpoints.

• We have launched a new corporate partner program, engaging our industry partners more deeply throughout the year, not just at the annual meeting. This has already yielded increased engagement with our industry partners.

• We continue to offer an increased number of webinars and have delivered on our podcast. Our new education center provides more options for continuing medical education to support your professional development.

• We have simplified website processes for junior members moving into active memberships and are seeing increased member engagement in leadership positions and committee applications.

• Our membership numbers with medical students are growing, indicating a strong interest in the specialty.

• We have a sold-out exhibit floor for this year’s annual meeting. Based on your feedback, the evolving scientific program diversifies learning formats and introduces learning tracks.

• We have increased our communication to keep you informed and engaged, including launching our new quarterly update email. In closing, we strive to create better communication to help our membership stay informed. Please attend the annual business meeting at the annual meeting to receive updates from our president and treasurer or listen to the recordings available on our website if you cannot attend. Our new membership report provides insights into the CNS membership, and CNS Connections Magazine continues to deliver valuable information within each issue.

There is much more to be done, but we are making significant progress. I request your understanding as we strive for deliberate and meaningful evolution over time. Thank you. •

Let

your

voice be heard!

CNS Active Members, your Board of Directors election ballot is in your email! Vote now!

Vote by

COLLEAGUES

CNS CONNECTIONS

EDITOR

Daniel J. Bonthius, MD, PhD

Medical Director, Pediatric Neurology

Levine Children’s Hospital

Letter From the Editor

Is it a Horrible Headache? Or a Horrible Haiku?

It’s Monday morning. Harry’s first day of high school. Summer break over.

Skateboarding was fun. So were swimming and beach time. And sleeping in late.

Vaping was a gas!

‘Cause his parents didn’t know. A secret with friends.

Now dreaded Monday. Algebra will be a drag. And Spanish class, ugh!

No option, but school. But wait! Harry might be sick! No school when migraine!

Harry wears pale face. He can fake awful headaches. Years of practice helps.

Mom tries Tylenol. Gosh, it doesn’t work at all. Must be a bad one.

Ibuprofen next.

Still no relief! Poor Harry! Watching TV helps.

Tuesday, headache persists. Parents take him to E.R. He gets a “cocktail.”

Not a fun cocktail. Not like older brother makes. Just a little buzz.

Still, better than school. Harry thinks of poor classmates, slaving in English.

He gets admitted. Next morning, peds neuro there. Pain still 10 of 10!

Doctor, in white coat, taps Harry with cute hammer, has Harry touch nose.

“Pain is just awful.” Parents are worried. Watching “Seinfeld” relieves pain.

Let’s see, it’s Wednesday. His friends are in math right now. Poor schleps! Harry smiles.

They try a “strong” med. Next day, Thursday, pain still there! That was no help.

Watching “Jeopardy!” Harry knew that clue! He’s good! But headache’s still bad.

Doctor looks in his eyes. First with the bright metal scope. Then with long locked gaze.

CNS CONNECTIONS

EDITOR

Daniel J. Bonthius, MD, PhD

Medical Director, Pediatric Neurology Levine Children’s Hospital

Figure 1. Dr. Grace Gombolay examines MRI scans as she investigates biomarkers for pediatric neuroinflammatory disorders.

Unravelling the Complexities of Neuroinflammatory Disorders Research Focus

Link to CNS Research Focus Library

Autoimmune neuroinflammatory disorders are among the most dramatic and interesting diseases in child neurology. They can induce substantial neurological and psychiatric symptoms with a thunderclap onset, and they can lead to permanent and severe disability. In addition, their etiologies are fascinating, as they are induced by disruptions in the relationship between the two most complex organ systems in the body – the nervous system and the immune system. Furthermore, entirely new diseases within the category of autoimmune neuroinflammatory diseases are being discovered at a rapid pace. Indeed, antiNMDA receptor encephalitis and anti-MOG associated disorders (MOGAD), which are commonly diagnosed today, were unknown until recent years.

However, despite the importance of autoimmune neuroinflammatory diseases, many aspects about them remain unclear. What causes them? How can they be ideally treated? Why do some patients respond so much better to treatment than others? Dr. Grace Gombolay aims to shed light on the dark mysteries of pediatric autoimmune neuroinflammatory disorders (Figure 1).

Dr. Gombolay is an assistant professor of pediatrics within the division of neurology at Emory University and at Children’s Healthcare of Atlanta. Her principal research goal is to identify biomarkers that can be used to diagnose neuroinflammatory disorders, identify their optimal treatment, and determine their prognosis.

Although still very early in her career, Dr. Gombolay has already made some important contributions and is poised to make many more. She established a biorepository with over 250 children with rare neuroinflammatory disorders at Emory University, which she later expanded into a multi-center prospective patient registry called “CONNECT” (CONquering Neuroinflammation and Epilepsies Consortium). This is the first such patient registry of pediatric neuroinflammatory disorders in the US. Using CONNECT, Dr. Gombolay, along with Dr. Coral Stredny at Boston Children’s Hospital and their colleagues, have completed several important studies. In one study, Dr. Gombolay’s research team examined the importance of lesion location on clinical outcome in children with anti-NMDA receptor encephalitis. They found that lesion location plays an important role in outcome. In particular, frontal and occipital lobe lesions predicted a poor outcome. Why lesions in those particular

lobes lead to worse outcomes than others remains unknown. Nevertheless, their work established lesion location as an important prognostic biomarker in anti-NMDA receptor encephalitis.

In a separate study, Dr. Gombolay’s team examined leptomeningeal enhancement as a distinguishing factor among neuroinflammatory diseases. Examining a large number of MRI studies from patients with anti-MOG associated disease (MOGAD), multiple sclerosis, and neuromyelitis optica spectrum disorders (NMOSD), they found that leptomeningeal enhancement is present in one-third of MOGAD cases, while it is virtually never present in cases of MS and NMOSD (Figure 2). Thus, her team has identified leptomeningeal enhancement as a neuroradiological biomarker for MOGAD.

Dr. Gombolay is well on her way toward a career of successful scientific achievement. However, her path has not been an easy one. The first six research grant applications that she submitted

were all rejected. Several well-meaning advisors suggested she stop pursuing grants and abandon her scientific career. However, one wise advisor recognized her passion for science and stated that if she remained committed, her perseverance would eventually lead to success. Dr. Gombolay heeded that advice and is grateful for it. She has subsequently received nine research grants, including funding from the Pediatric Epilepsy Research Foundation (PERF) and National Institutes of Health (NIH).

Pediatric neuroinflammatory disorders are as scientifically intriguing and clinically demanding as anything we encounter in child neurology. Unraveling their complexity and devising more effective ways to diagnose and treat them will require dedication and tenacity. Because Grace Gombolay possesses those qualities in abundance, she will likely make many contributions to the field of pediatric neuroinflammatory disorders. •

Figure 2. Axial T2 FLAIR (left) and contrast-enhanced T1-weighted (right) images from patients with MOGAD (A, B, C, and D), multiple sclerosis (E and F), and neuromyelitis optica spectrum disorder (G and H). Leptomeningeal enhancement (arrow in B) is present only in some cases of MOGAD but not in MS or NMOSD. For more details, see Pediatric Neurology 2024; 153: 125-130.

COLLEAGUES

SCIENTIFIC SELECTION AND PROGRAM PLANNING CHAIR

Bhooma Aravamuthan, MD, DPhil

SCIENTIFIC SELECTION AND PROGRAM PLANNING ASSOCIATE CHAIR

Dave Clarke, MD

News from the CNS Scientific Selection and

Program Planning Committee 53rd Annual Meeting

BY BHOOMA ARAVAMUTHAN, MD, DP hil

We are excited to see everyone at the 53rd Child Neurology Society Annual Meeting in beautiful San Diego! To match this incredible meeting location, we are overjoyed to give you incredible content from incredible speakers. This year broke records. We received more seminar proposals and more scientific abstract submissions than we have ever received. To match this passionate showing from the CNS membership, we also included more seminars and scientific abstracts in the meeting than we ever have. This meeting is bursting with the best.

This meeting is also a direct reflection of your feedback. Your responses to the 2023 Continuing Medical Education Survey told us you wanted more: more sessions focused on clinical care (requested by 49%), research advances (23%), and leadership (18%). However, though many wanted more research-focused content, 19% wanted less. This suggested to us that, at any given time in the meeting, we needed to give you options. We worked hard to respond; we are giving you more content AND more choices.

At this year’s meeting, you can go to sessions organized along three tracks: Clinical Care, Research Advances, or Leadership and Career Development. You can follow a single track for the whole meeting, or you can mix and match. You can also pick sessions based on your learning style in one of three formats: Didactic (traditional lectures), Discussion (mixed lecture and interactive discussion), or Workshop (primarily interactive discussion). This year’s CNS Annual Meeting can be whatever you want it to be.

Content tailored to our junior members comes from our Junior and Early Career Forum (led by Drs. Ana Cristancho and Paul Youssef) via Lobby Talks and Junior Member Sessions. We also foster the academic growth of our junior members in the Clinical Research Workshop (led by Dr. Rose Gelineau-Morel) and Biomedical Writing Workshop (led by Dr. Steve Roach). Incredible symposia come from the Child Neurology Foundation (focusing on caring for children with medical complexity) and from President Dr. Peter Kang (focusing on neuromuscular conditions). Finally, this meeting heralds the return of the Year in Review Symposium, which will again feature high-yield updates from experts across our field. New this year, the Year in Review will feature abstract summaries from the American Epilepsy Society (AES), American Neurological Association (ANA), and American Academy of Cerebral Palsy and Developmental Medicine (AACPDM). We thus round out the meeting with content important for our entire membership.

As leaders of the Scientific Selection and Program Planning Committee, Dr. Dave Clarke and I owe a huge debt of gratitude to the committee members, the Scientific Review Workgroup Members, Dr. Kang, Executive Director Monique Terrell, the CNS Board of Directors, and Katelyn Geiger and Sue Hussman in the CNS National Office, who are the backbone of this meeting. Finally, thank you to the CNS membership for giving us so much good content to choose from. Let’s celebrate you and this special meeting together. Surf’s up, everyone! See you in San Diego! •

2024 Scientific Selection and Program Planning Committee Members

Sonika Agarwal

Shawn Aylward

Clarimar Borrero-Mejias

Timothy Gershon

Laura Kirkpatrick

Sanjeev Kothare

Jean-Baptiste Le Pichon

Ariel Lyons-Warren

Kiran Maski

Xilma Ortiz-Gonzalez

Temitayo Oyegbile Chidi

Renée Shellhaas

JoJo Yang

Alonso Zea Vera

CNS Board of Director Candidates

The CNS Nominating Committee is pleased to present the following slate of candidates for consideration by CNS Active Members for the positions of President-elect, Councilor for the South, and Councilor for the West. Ballots are in your email now, and the election closes on August 30. Your vote is crucial, so vote today!

Let your voice shape the future of our organization.

PRESIDENT-ELECT NOMINEE

Andrea Gropman, MD

I am honored to be considered for president-elect and grateful to the founding members of the CNS, who laid the foundation for our society and field. My journey has been immensely fulfilling, and I am excited about the path ahead.

Growing up with humble beginnings, I learned the value of hard work and service from my parents. My mother, a dedicated teacher, found joy in teaching disadvantaged children, while my father, a journalist, served our community in various capacities. Growing up on public assistance made me acutely aware of the power of resilience and the importance of empathy, fueling my passion for child neurology, the first in my family to become a doctor. It has been an incredible privilege to work with patients and their families, whose stories continue to inspire me.

After medical school, I moved to the DMV to complete training in pediatrics, neurology, and genetics, leaving behind my Boston accent, but bringing forward a relentless drive to serve. For the past decade, I have served as Division Chief of NDD and Neurogenetics at the Children’s National Hospital and the interim director of Genomics and Personalized Medicine at the Children’s Research Innovation Campus. My next adventure will take me to St. Jude in Memphis, where I will build a neurogenetics translational and therapeutics research program. The mid-south has significant gaps in care for complex disorders and research, and my goal is to bridge these gaps.

Mentors, students, and patient advocacy groups have been instrumental in my journey. At UMass Worcester, mentors like Israel

Abrams and Paul Marshall ignited my passion for neurology. Rotations at NEMC with Paul Rosman solidified my desire to become a child neurologist. Roger Packer at Children’s National allowed me to grow as a leader. I am proud to have received the Max Platt Award for excellence as a child neurology fellow and the Child Neurology Society Outstanding Junior Member Award.

My fellowships in clinical and biochemical genetics with Max Muenke and Bill Gahl at NIH and my subsequent work at Georgetown University, where I gained expertise in multimodal neuroimaging, have been pivotal. I was honored with the “Caring Star” award for my dedication to patients, families, and advocacy groups. Returning to Children’s National, I rose to tenured professor, building a 20-year career that I deeply cherish. Receiving the mentor award in translational research at CNH is particularly meaningful to me, as nurturing the next generation of neurologists is one of my greatest passions. I have served on several committees within the CNS, SIMD, ASHG, and ISMRM, ANA, and AAN, contributing to the growth and development of our field.

If president-elect, I am committed to being an effective leader for the CNS, engaging multiple stakeholders with my extensive experience in leading diverse groups. I will work tirelessly to ensure that the CNS remains a welcoming home for all. Preparing neurologists for the evolving landscape of neurology is crucial, and I am dedicated to fostering an environment of lifelong learning, drawing wisdom from colleagues and patients.

Andrea Gropman, MD

My committee experience within the CNS and leadership roles in multiple national organizations (ASHG, ANA, AAN, ACMG, SIMD, RDCRN), as well as leadership at my own institution, have shaped my vision for advancing the strategic goals and direction of the CNS. I am committed to creating a future where children with neurological and developmental disorders have equitable access to the best care and support, and where the professionals who care for them are recognized, valued, and equipped with the training and resources to do so. Sustainability and innovation will carry the CNS into uncharted waters over the next several years.

Serving as Division Chief of NDD and Neurogenetics has been a pivotal experience. Leading a diverse team and mentoring upcoming neurologists have shown me the importance of education, mentorship, and inclusivity. These roles have reinforced my commitment to fostering an environment where professionals are supported and valued, directly aligning with CNS’s mission to provide education and support for pediatric neurology clinicians and researchers. As division chief, I was responsible for program building that addresses future trends while being fiscally responsible.

My role as PI of the Urea Cycle Consortium and interim director of Genetic Medicine research has emphasized the power of collaboration. Working with multidisciplinary teams to address complex scientific challenges has taught me the importance of inclusivity and patient-centered care. These experiences have strengthened my resolve to advocate for policies and practices that support collaborative, highquality care for children with neurological disorders.

Completing fellowships in clinical and biochemical genetics at NIH allowed me to engage with cutting-edge research. This experience has reinforced the value of scientific excellence and innovation. I am committed to fostering an environment that encourages research and the development of new therapies, ensuring CNS members are at the forefront of pediatric neurology advancements.

Recognizing the challenges of workforce diversity and burnout in my division, I participated in initiatives to recruit and retain diverse talent and support mental health. These efforts are crucial for creating a resilient

and culturally competent workforce, aligning with our values of advocacy, collaboration, and integrity.

My vision includes developing a segmented approach to communication, creating relevant education and networking opportunities, and fostering member engagement. By leveraging my leadership experience, I will enrich the member experience with proactive, open, and informative communication, ensuring every member feels valued and engaged.

I will work to acquire new members among qualified child neurologists, researchers, and affiliates and to diversify non-member revenue streams through new partnerships and opportunities. My experience in managing large-scale projects and budgets will ensure judicious management of expenses, making CNS operations efficient and effective.

I hold myself to the highest standards of integrity and transparency. Those who know me will say I get things done; I say what I will do, and I do what I say. I will ensure that CNS remains a leader in pediatric neurology. My experiences have prepared me to lead with a focus on advocacy, collaboration, education, and mentorship, fostering an inclusive environment where every member can thrive.

What are the most challenging issues facing child neurologists today, and how would the CNS, under your leadership, help its members meet those challenges?

These are exciting times for child neurology, presenting both significant challenges and opportunities for growth and innovation. As president-elect, I would be committed to helping our members navigate and overcome these challenges, ensuring we harness our collective talent to advocate for and provide the best care for our nation’s most vulnerable patients. I would advocate to elevate CNS to be a visible and effective national collaborator in the many decisions that impact our patients.

One of our primary challenges is ensuring workforce diversity and addressing burnout among child neurologists. A diverse workforce is essential for providing culturally competent care and addressing health disparities. As president-elect, I would prioritize initiatives to recruit and retain diverse talent. We must also address workforce burnout by investing in mental health resources and support systems for our providers, ensuring they can continue to deliver high-quality care without compromising their well-being.

Access to specialized pediatric neurological care remains limited, particularly in rural and underserved areas. The pandemic

has highlighted the potential of telemedicine to bridge this gap. I would advocate for the continued integration of digital health technologies, remote monitoring, and telemedicine platforms to enhance access to care.

Navigating prior authorizations for genetic testing and expensive medications is a significant hurdle. Ensuring fair reimbursement for these essential services is crucial. I would work with our neurology colleagues, policymakers, and insurance companies to streamline authorization processes and secure appropriate reimbursement, allowing our members to focus on patient care rather than administrative burdens.

The transition from pediatric to adult neurology clinics is particularly challenging for patients with Autism or Intellectual and Developmental Disabilities. We must develop robust transition protocols and support systems to ensure seamless care continuity. I would spearhead efforts to create standardized transition pathways and advocate for specialized adult care services for these patients.

The concentration of pediatric neurology services in major medical centers creates access challenges for families in remote areas. Telehealth has shown promise in addressing this issue. I would champion the integration of telehealth into our care models, ensuring equitable access to specialized care regardless of geographic location. Loan repayment or service credit may be another way to bring child neurologists to these regions.

Effective care for pediatric neurological disorders often requires a multidisciplinary approach. Collaborative care models that are both fiscally sound and provide excellent care are essential. I would work with the CNS to promote these models, fostering partnerships among healthcare providers to ensure holistic management of our patients’ needs.

Advances in genetics and molecular mechanisms offer the potential for personalized approaches to diagnosis and treatment. Child neurologists must be equipped to order and interpret genetic tests and collaborate closely with genetic colleagues. I would advocate for our specialty’s involvement in precision medicine initiatives, ensuring our members are at the forefront of these advancements. Additionally, emerging therapies, including novel pharmacological agents and gene therapies, require specialized training. I would prioritize educational initiatives to ensure our members are comfortable with these new treatments, including complex delivery methods such as brain infusions. •

PRESIDENT-ELECT NOMINEE

Yasmin Khakoo, MD, FAAN, FAAP

I am honored to be nominated for president-elect of the Child Neurology Society for 2024-28. Although I possess leadership experience in the American Academy of Neurology (AAN), and the United Council for Neurologic Subspecialties (UCNS) and am a member of the American Academy of Pediatrics (AAP), my primary professional allegiance is to the CNS.

I am the child of two immigrant physicians who worked in underserved NYC hospitals and modeled a culture of service to others, which I have strived to emulate. I am also the wife of a physician scientist and the parent of two young adults, whose crucial transition from child to adult was marred by the pandemic. I am a board-certified pediatrician, child neurologist and neuro-oncologist at Memorial Sloan Kettering Cancer Center (MSKCC) and Professor of Clinical Pediatrics at Weill Cornell Medical College (WCMC). I care for children and young adults with primary brain tumors and have focused my career on onco-neurology: the diagnosis, treatment, and prevention of neurologic complications in patients receiving cancer treatment. While I have been recognized for clinical excellence annually since 2013 by Castle Connolly, I am more honored to be seen as a trusted resource for medical colleagues and others. I have been recognized as an educator and received the 2021 WCMC Pediatric Neurology Faculty Teaching Award from the neurology residents. I have developed leadership expertise in faculty development, especially for women and underrepresented physicians, APPs, and trainees.

What key experiences within the CNS or other professional organizations have been most impactful or rewarding for you, and how have these experiences influenced your vision for advancing the strategic goals and direction of the CNS? Milestone experiences within the CNS include my first platform presentation as a trainee in 1997, presenting Symposia in 2017 and 2021, my work with the

Scientific Selection and Program Planning Committee (SSPPC) from 2012-2023: member 2012-19, associate chair 201920, and chair 2021-23, and member of the 2021 inaugural Leadership, Diversity, Equity, and Inclusion (LDEI) Committee. In 2023, I was elected to the Board of Directors as CNS Councilor for the East and received the CNS Arnold P. Gold Humanism in Medicine Award.

Child neurologists are often caught between pediatrics and neurology departments, and our voices may get lost. The CNS is an organization comprised of talented and innovative members who prioritize patient care, education, research and advocacy, and our spirit is captured by “though we be small, we be mighty” (adapt., Shakespeare). The appointment of a new executive director in September 2022 has afforded new opportunities to further grow our society in several arenas. Our strategic plan was developed in conjunction with an outside consultant, and I am encouraged by changes already in progress. With the post-pandemic demands on us to see more patients, bring in more grants, and work harder, with shrinking travel, CME, and membership budgets, it is incumbent that we in the CNS leadership ensure that our constituents receive maximal value for their membership.

The inaugural Fellow of the CNS (FCNS) designation was rolled out in June 2024, with nearly 60 applications.

I wrote letters of support for several candidates and wrote countless promotion letters and applications for awards and leadership programs for Child Neurologists and other physicians.

Proposal and abstract submission for non-ICNA associated CNS annual meetings is currently at a record high, in part, because of renewed interest in CNS by trainees and early career faculty. As a recent co-chair of the SSPPC, I worked with the team to increase transparency of the proposal and abstract process: we gave points for diversity and provided feedback to both successful and unsuccessful proposal submitters. The

Yasmin Khakoo, MD, FAAN, FAAP

Junior Member offerings during the CNSAM are a highlight, providing sessions on job searches, negotiation, grant applications and effective time management. The current SSPPC chairs cross-pollinate from other societies to create the best possible programming experience for CNS members.

What are the most challenging issues facing child neurologists today, and how would the CNS, under your leadership, help its members meet those challenges?

As President, I will ensure that we address issues including fertility preservation, transition to retirement while being connected to the CNS community, and job choices for the dual career couple, single parent, or members with eldercare responsibilities. Additionally, we will address the needs of all members and affiliates: not only those pursuing academic and practice-based career paths, but also those interested in industry, hospitalist, and even concierge medicine. We know that the shortage of pediatricians, especially subspecialists, is a national health crisis. We are in a unique position to support our midlevel partners (nurse practitioners and physician assistants) to provide outstanding focused, safe care while we, the physicians, continue to make high-stakes decisions and develop new therapies. The Association of Child Neurology Nurses (ACNN), a partner of the CNS, will be instrumental in designing training programs and certification governance in the next decade.

To bolster the financial health of the CNS, our ED created sponsorship opportunities with “local hosts,” institutions in the environs of our meeting venues (thank you 2024 hosts UCLA and CHOC). We have also increased our efforts exploring partnerships with industry. Our constituency voted to merge the Professors and Educators in Child

Neurology with CNS into the Educators of Child Neurology Committee. As a BOD member I was involved in restructuring the CNS Committees this year to optimize their impact. At a time when many businesses are dismantling DEI committees and training, we elected to maintain our LDEI Committee which will ensure that all sectors of our Society will uphold the tenets of equity, diversity, and inclusion. As president, I will periodically reassess the committee structures and create task forces to address ad hoc issues, like updating bylaws once our industry partnerships are created.

I will promote generational harmony so all members have access to improved well-being; we must not only retain current child neurologists but also continue to engage new ones as early as elementary school. As a graduate of the AAN Women Leading in Neurology Program, I realize the value of a formal mentorship program. Senior members are a terrific resource for a formal mentoring program.

With the help of the Junior Member and LDEI teams, I will create a CNS leadership development program. In 2020, I was a mentor in the Weill Cornell Travelers program encouraging Black, Indigenous People of Color (BIPOCs) to enter health careers. My proudest moment this year was when the undergraduate student (survivor of traumatic brain injury in her 20’s), assigned to me, graduated from nursing school.

As Editor-in-Chief of Pediatric Neurology since 2022, I have increased diversity of our board members, authors, and reviewers. I invited early- and mid-career first authors to contribute timely editorials, including Sexual and Gender Minority Health, Child Neurology in the Post-Roe Era, and Transformative Impact of Sleep on Child and Adolescent Well-Being. In response to the novel targeted directed therapies for many previously fatal neurologic

conditions, I have commissioned our 2025 special issue: “Survivorship in Child Neurology.” In response to child neurology voices, the AAN strategic mission includes continuum of care across the lifespan. Now is the time to strengthen collaborations with the AAN and ensure every patient has lifetime access to the care they need.

Addressing our members’ needs for more and consistent education, the CNS increased the number and quality of educational offerings throughout the year. The stunning, user-friendly CNS Education Center website is a prelude to revamping our webpage. All recent CNSAM CME eligible sessions and webinars are available to both members and non-members, who need only create a free account. Next year the CNSAM platform sessions will also be CME-eligible and available to view. I would like to see sessions conducted in Spanish and American Sign Language to engage international and ADA members. The recent roll out of the CNS-sponsored genetics curriculum (akin to the Pellock Resident Seminar) is also a testament to the collaboration between our members and the leadership.

Some of you have asked how I can take on multiple responsibilities. Several of my appointments with the AAN and UCNS will end in the Spring of 2025. As a proponent of succession planning, I appointed a co-Chair to the AAN Child Neurology abstract selection committee. Prior to agreeing to be nominated, I secured a pledge from my MSK and WCMC leadership to provide protected time to do so. I will call upon the Board of Directors, committee chairs, CNS National Office team, and the ED to continue the hard work towards some of the above goals. It’s an important time to be a child neurologist, and I hope you will consider me for the job of CNS president-elect. Thank you. •

COUNCILOR FOR THE SOUTH NOMINEE Tim Lotze, MD

Tim Lotze, M.D. is a Professor of Pediatrics and Neurology with tenure at Baylor College of Medicine. He is originally from Houston and received a degree in Physics from Texas A&M University. He attended medical school at the University of Texas Health Science Center in San Antonio, followed by training in General Pediatrics at Ohio State University where he served as the Chief Resident after completing his categorical training in 1999. He then returned to Houston to train under Dr. Marvin Fishman in Child Neurology at Baylor College of Medicine. Following completion of this training in 2002, he joined the Baylor faculty. Dr. Lotze’s clinical interests include neuromuscular disorders and neuroimmunology. He established the neuromuscular program at Texas Children’s Hospital in 2004 and directs the MDA Comprehensive Care Center along with related research activities. In 2004, he additionally established the neuroimmunology program at Texas Children’s Hospital and in 2016 created a related fellowship program. The neuroimmunology program has included collaborative research and educational activities through its membership in the US Network of Pediatric MS Centers (NPMSC), for which Dr. Lotze has also served as a chair. Dr. Lotze has been the Child Neurology Residency Program Director at Baylor since 2005 and has built the program to be one of the largest in the country, training seven residents in each class year. He has been recognized for his leadership in this position by the AAN in 2016 and the PECN in 2022. Dr. Lotze has served as the Chair for the American Academy of Pediatrics Section of Neurology from 2021-2024. The Section is involved in the creation, review, and dissemination of educational materials and care recommendations for general pediatricians, as well as other subspecialties affiliated with the AAP. The Section of Neurology additionally works with the Child Neurology Society and the American Academy of Neurology in addressing issues related to child neurology. Dr. Lotze has been a member of the Child Neurology Society since 1999 and has been actively involved with the Professors and Educators of Child Neurology (PECN) since 2004. He has

served as both a councilor (2016-2018) and president (2018-2021) of the PECN.

My membership in the Professors and Educators of Child Neurology over the past two decades has been one of the most impactful experiences in my career as a clinician educator. Having served as a councilor and president for this group certainly deepened my engagement and my commitment to its ongoing development. It has been wonderful to see the evolution of this organization from a somewhat exclusive membership to one that has become highly inclusive for all CNS members, especially for those with career interests in clinical education. I think that the ongoing growth of the partnership between the CNS and the PECN will be a key means by which the CNS becomes the principal organization for clinician educators in the field as well as a key voice for the ongoing evolution of training curricula for child neurology and neurodevelopmental disability residents.

Having been both a CNS Annual Meeting attendee and a presenter over the past years, I have had valuable experiences in networking with our members in a variety of formats to include poster sessions, special interest groups, and general sessions. These have also been opportunities for me to mentor students, residents, and junior faculty in presenting their research. Further outreach efforts and mentoring to these individuals, along with new efforts to reach those in related specialties, could further expand the breadth of the Society’s expertise. Ongoing development of the website, social media presence, and the Annals of the Child Neurology Society would all be important aspects of this effort.

Other impactful experiences for me have been my leadership roles in organizations to include the American Academy of Pediatrics (AAP) Section of Neurology, the US Network of Pediatric MS Centers (NPMSC), and as the residency program director at Baylor

Tim Lotze, MD

College of Medicine for almost 20 years. Each has provided me with opportunities to collaborate, to build, and to learn how to navigate the expected challenges associated with the leadership role. My work in the AAP as Chair of the Section of Neurology taught me how to work within a large organization in collaboration with other pediatric specialists in the development of policies and guidelines. My tenure as the Chair of the NPMSC has included work in developing collaborative research projects, as well as in expanding the membership and educational outreach efforts of that group. Finally, being a residency program director has given me a multitude of experiences, which are all centered on a mission to advocate for and to develop the best training program for our residents.

In my role as Councilor for the South, I would look to use my cumulative experiences to help carry out the Strategic Priorities of the Society to further advance the field and improve the lives of our patients and their families.

What are the most challenging issues facing child neurologists today, and how would the CNS, under your leadership, help its members meet those challenges?

Three of the most challenging areas for our field are: (1) workforce development, diversification, and retention, (2) escalating costs of care and complexities of insurance authorization requirements, and (3) wellness and career satisfaction. The Child Neurology Society is the best organization to address these threats to child neurology.

Through its membership, the Society can work to expand the visibility of child neurology and neurodevelopmental disabilities to students through organized outreach and engagement with neurology and pediatric student interest groups at medical schools. These efforts must include a representation of our diversity as well as strategies to become even more diversified and inclusive. The CNS can also advocate for financial support of expanding residency programs. This may come through advocating for greater state grant funding for this needed specialty. Opportunities to

improve the overall workforce needs for child neurology could also come through further development of CNS partnerships with the Association of Child Neurology Nurses (ACNN) and the American Association of Nurse Practitioner Neurology Specialty Practice Group. The CNS also has a critical role in advocating for neurology training for general pediatricians during residency through the AAP and the American Board of Pediatrics. Another barrier to recruitment is the overall length of training. Ongoing discussions regarding the number of years for training in pediatrics and adult neurology should be pursued to create a training curriculum that best meets the future needs of the field.

The CNS serves an important role in advocating for members’ value to healthcare systems, for their appropriate compensation, and for reducing administrative demands on physicians. Further advocacy is needed to reduce time spent on insurance authorization and other tasks that would be more efficiently managed by support staff. Communications directed to department administrators of academic practices might be of benefit in this regard. The CNS also has a role to play in position statements related to the rising costs of medications and access to best treatments for all children. This is particularly important with the advent of gene therapies for the many rare pediatric neurological diseases.

The CNS will need to continue to identify strengths and weaknesses in child neurology that affect the well-being of its members and capitalize on opportunities that could reduce burnout. Addressing the above-noted challenges will be one method to improve the wellness and career satisfaction of CNS members. Despite the challenges faced by the specialty, child neurology is a highly satisfying career for the majority of those practicing. The CNS has been a significant part of this through connections with colleagues at the annual meeting, as well as other communications throughout the year. It would be a privilege for me to serve in the role of councilor to help in identifying and developing opportunities that would move the field forward through current and future challenges •

COUNCILOR FOR THE SOUTH NOMINEE

Jaclyn Martindale, DO

My career is a testament to the power of unique experiences. As an Assistant Professor of Neurology, clinician-researcher, medical educator, and leader, I bring diverse skills and perspectives to the table. Originally from Buffalo, NY, as a first-generation medical professional, I completed my training at the University of Rochester. From 2016 to 2019, I worked in a non-academic position, earning recognition for exceptional Tourette Syndrome (TS) clinical care and advocacy. Fueled by my passion for research, I returned to academia, joining Wake Forest University School of Medicine (WFUSM) in 2019. My career goals are to provide compassionate care for TS and Tic Disorders, conduct clinical research, educate future clinician-scientists, and contribute through leadership, mentorship, and sponsorship.

My commitment to the CNS and the field of child neurology is unwavering. Since my residency, I have been an active CNS member, serving in various roles, including chair of the Digital Committee for the Professors and Educators of Child Neurology and the current chair of the CNS Electronic Communication Committee. I take pride in expanding the social media strategy between 2021 and 2024 and conducting a gender analysis of awards and leadership within the CNS. These initiatives have led to meaningful strategic changes to enhance member experience and expand our membership.

Outside of the CNS, I hold leadership positions within the Movement Disorders Society, the Tourette Association of America, and the American Academy of Neurology. I am the Section Head and Medical Director for Pediatric Neurology at WFUSM, where I have implemented significant positive changes within the pediatric neurology inpatient service line, advocated for increased recognition of non-revenue-producing activities, and expanded our section.

In addition to my clinical work, I conduct clinical research in TS. My research focuses on developing, implementing, evaluating, and disseminating accessible behavioral interventions for TS that impact stigma, well-being, and psychological distress. Over the past several years, I have built a regionally recognized center specializing in

comprehensive care for individuals with TS. I am also passionate about digital education and shaping the next generation of child neurologists. At WFUSM, I have been the Associate Program Director of the Child Neurology Residency since 2021. I co-founded the Neurology Digital Education Collaborative and the yearlong Scholars Program to teach others to incorporate evidence-based digital education into teaching practices. I wish to continue expanding the educational footprint of CNS and child neurology medical educators.

My vision for the CNS is to create a home for all generations of child neurologists. I believe that our society and the field of child neurology have the potential to broaden our societal impact within the workforce and the populations we serve. We can create a more inclusive field of child neurologists and ensure equitable care for all. The CNS can lead in creating equitable policies and practices, setting standards for representation, and advocating for others to do the same. I am committed to steering our field toward a more inclusive future and am grateful for your consideration.

My most significant contribution has been focusing on sexual and gender diversities in child neurology, which was sparked by the rise in functional tics during the pandemic. This interest expanded into general child neurology and all disparities. This work has not only raised awareness but also led to tangible changes in how we approach and address these issues in our field.

My leadership in analyzing gender disparities in the CNS has been a significant milestone. Our findings, which revealed the under-representation of women in the highest levels of recognition in child neurology, have sparked considerable support and action within the CNS. This work, including a platform presentation at the 2023 CNS annual meeting, an interview by Neurology Today, a CNS spotlight presentation at the 2024 AAN annual

Jaclyn Martindale, DO

meeting, and a publication in Neurology, has brought these issues to the forefront and catalyzed meaningful changes within our society.

Our work has also shed light on the generational divide within our society. In many recognition awards and leadership positions, the CNS tends to value service length to the child neurology field. However, our vision is to recognize and value professionals’ contributions to child neurology, regardless of their career stage. We need to acknowledge and appreciate the diverse contributions of all our members, as this is what truly enriches our field. Each member’s unique contribution is integral to the growth and development of our field, and it is crucial that we recognize and value this diversity.

Now is the time to embrace positive changes with new leadership and strategic goals. We must actively identify and implement structural changes within our society and the child neurology workforce to recruit and retain diversity of trainees, workforce, members, and leadership. Some members have concerns about gender representation and ageism, which also affects the CNS membership and participation. In alignment with the CNS’ strategic goals, we should ensure policies promote equitable representation in leadership, awards, and committees. Addressing ongoing disparities and promoting diverse leadership at all career stages should be a part of that inclusive strategy. By doing so, we can enrich the member experience while growing our membership.

Our gender analysis and first-ever sexual and gender-diverse symposium garnered widespread CNS support, prompting early strategy changes, more inclusive demographic membership reporting, and the first published membership report this past winter.

This is not just a starting point but a call to action for a broader conversation about inequities within child neurology. We must collaborate with other societies and patient organizations to ensure equitable care for all. As the Society for Child Neurologists, the CNS can create equitable policies and

practices, set the standard for equitable representation, and advocate for others to do the same. Together, we can transform our field into a more inclusive and equitable space where everyone’s contributions are valued and recognized. This collaborative approach is crucial in our journey towards a more equitable and inclusive field of child neurology.

What are the most challenging issues facing child neurologists today, and how would the CNS, under your leadership, help its members meet those challenges?

The national shortage of child neurologists is a pressing issue. Addressing this involves two key components: 1) retaining current child neurologists through better support and resources, and 2) enhancing early clinical training to attract a diverse new generation of child neurologists. Under my leadership, the CNS would implement targeted programs and initiatives to tackle these challenges, ensuring a sustainable and vibrant future for our field.

The burnout rate among child neurologists exceeds 86%, highlighting the urgent need for changes to improve sustainability, satisfaction, and retention. Child neurologists generate significant downstream revenue for hospitals, estimated at $2 million per neurologist, through various procedures and referrals. Despite their critical role, they often engage in non-revenueproducing activities such as peer-to-peer calls, family meetings, and care coordination, which are vital but undervalued. High turnover, costly in terms of recruitment and lost revenue, exacerbates the national shortage and increases burnout among remaining neurologists.

To address these issues, we must advocate for greater recognition of the contributions of child neurologists within medical systems. The CNS should collaborate with other organizations to establish specialty-specific standards for child neurology departments. These standards should account for adaptable work RVU requirements, downstream revenue, and non-revenue-producing activities like patient care, education, and leadership. By setting these standards, we

can equip child neurologists with the tools to advocate for necessary changes within their healthcare systems, thereby improving retention and reducing burnout.

Additionally, enriching the child neurology training experience is crucial to recruiting and retaining a diverse new generation of child neurologists. This involves enhancing the curriculum and fostering an inclusive and supportive environment that encourages students from various backgrounds to pursue this specialty. Collaborating with Child Neurology Educators, we can leverage our collective expertise to advocate for a comprehensive approach to child neurology education.

One important step is to increase child neurology exposure in medical schools by integrating it more thoroughly into the standard curriculum. In addition, implementing required electives for nonneurologists is also essential, providing all future physicians with a deeper understanding of child neurology, regardless of their chosen specialty.

Furthermore, reevaluating the curriculum and length of child neurology residency training is necessary. Providing residents with relevant and customizable experiences will better prepare them for the complexities of their future roles. These changes will help create a well-rounded and comprehensive training program that attracts and retains a diverse and talented pool of future child neurologists.

This comprehensive approach not only enhances the quality of training but also addresses the need for diversity within the field. A diverse group of child neurologists brings varied perspectives and experiences, enriching the profession and improving patient care.

In summary, addressing the shortage of child neurologists requires both retaining current professionals and enriching the training experience to recruit a diverse new generation. By advocating for greater recognition of the field’s contributions and enhancing educational pathways, we can ensure a sustainable and vibrant future for child neurology. •

COUNCILOR FOR THE WEST NOMINEE Meghan Candee, MD, MSc

My journey to child neurology began during the summer after my first year of medical school, when I worked in a metabolic lab at Massachusetts General Hospital and had the chance to join my mentors on a few afternoons in neurometabolic and genetics clinic. Having earned a master’s degree in the biochemical bases of nutrition after college, I was amazed by the ways in which dietary therapies, co-factors, and supplements could be utilized to treat and, in some cases, cure disease. I became fascinated by the myriad ways in which developing brains could be affected –by lack of an enzyme, abnormal cell migration or chromosomal aberrations. My eyes were opened onto a field which continues to sustain my desire for lifelong learning and clinic days that vary widely in terms of the patients I meet and diagnoses we aim to treat. I am a fellow of the American Headache Society, who also takes great pride in being a general neurologist. I am continuously astounded by the breadth of pathology we see as our understanding of newer subspecialties, such as neuro-immunology and neonatal neurology, rapidly progresses.

With eight years of experience as a child neurology residency program director, I have cultivated a deep understanding of the educational and professional needs of our trainees and junior faculty. I have benefited greatly from working alongside other program directors to navigate the latest changes in recruiting methods and ABPN board eligibility. My roles on the CNS Ethics and Awards Committees and the United Council for Neurologic Subspecialties (UCNS) Accreditation Council have further enriched my perspective on the ethical and evaluative processes that are crucial for maintaining the highest standards in our specialty. I am acutely aware of the need for increased diversity within our society and am committed to fostering an inclusive environment that welcomes and supports all members.

In my local role as Associate Medical Director for Ambulatory Pediatrics at the

University of Utah, I have spearheaded numerous quality improvement projects aimed at enhancing patient experience and optimizing clinical operations to promote provider efficiency and deliver patient-centered care across the Intermountain West Region (which serves Utah and five surrounding states). I would welcome the opportunity to engage with other councilors regarding issues and initiatives that arise, fostering collaboration and shared problem-solving within our leadership team.

My goal of further increasing my involvement within the CNS is fueled by the collaborative relationships I have built over many years with colleagues across the country through research in the areas of headache, genetic epilepsy, and multiple sclerosis. These partnerships have not only advanced our understanding of these complex conditions but also highlighted the importance of interdisciplinary collaboration. As Councilor for the West, I aim to leverage these relationships to foster greater engagement within our community. I am passionate about enhancing resident and junior faculty education and advocacy, ensuring that the next generation of child neurologists is excited and well-prepared to meet the challenges of our evolving field.

My journey working with professional organizations like the Child Neurology Society (CNS), American Academy of Pediatrics (AAP), and American Headache Society (AHS) has been profoundly rewarding. Through my connections with other residency program directors via the CNS, I have learned about issues and practice parameters that may be specific to one geographic region or population. I have also been better able to advocate for residents by hearing about how other

Meghan Candee, MD, MSc

programs address similar challenges. Through the AAP, I have had the chance, on the local and national level, to empower primary care physicians and advanced practice providers on how to evaluate first-time seizures, headaches, and developmental delay. Being selected as an AHS Emerging Leader gave me the opportunity to collaborate with peers from around the world who were at similar stages in their careers. We learned how to create, present, and enact impactful initiatives, many of which needed to begin with the AHS to garner momentum. As a state representative to Headache on the Hill, I was able to hone my public speaking skills in order to better advocate for headache-related research funding to speak out against the stigma of migraine, one of many invisible neurological diseases.

Some of the most impactful experiences I have had have resulted from attending a variety of conferences for the families of children with various genetic syndromes. Through my own good fortune of working with Dr. John Carey, a world-renowned geneticist at the University of Utah, I have worked on projects and papers establishing the seizure characteristics in Pallister Killian Syndrome (12p tetrasomy) and Trisomy 18. This led to my attending multiple annual family meetings for patients with PKS. More recently, earlier this month, I attended the Support Organization for Trisomy annual meeting in Minneapolis and had the distinct privilege of representing our specialty as the sole pediatric neurologist, meeting with families and speaking on panels about the various neurological complications specific to Trisomy 13 & 18. These interactions were enlightening. I gained invaluable insights from the experiences shared by families and other specialists dedicated to caring for these unique patient populations. The experience underscored the importance of listening and learning from those we aim to support, deepening my commitment to

advocacy and patient-centered care.

My goals for working with the CNS leadership board align with the organization’s established values of advocacy, inclusivity, and transparency. Locally, as the associate medical director for the Pediatric Clinical Enterprise, I am already involved in streamlining financial processes to ensure the availability of funds necessary to implement best practices. I am eager to bring this experience to the Society level, addressing systemic and operational challenges to further the CNS’s mission and enhance our collective impact.

What are the most challenging issues facing child neurologists today, and how would the CNS, under your leadership, help its members meet those challenges?

Child neurologists today face numerous challenges that impact their ability to provide optimal care. One significant issue is ensuring equitable access for all children to pediatric specialists, both in-person and via telehealth, regardless of geographic location. Many families in rural or underserved areas struggle to obtain specialized care, creating and perpetuating disparities in health outcomes. Additionally, insurance oversight poses a substantial hurdle, particularly when it comes to accessing medications that are not yet FDAapproved for children and may not be for some time. This can leave young patients without the most effective treatments, putting their health at risk. The demands of clinical practice, combined with limited time and funding, make it difficult for providers to advocate for their patients. This lack of resources hinders efforts to address systemic issues and advocate for necessary policy changes. Integrating emerging technologies like artificial intelligence (AI) into clinical practice, patient education, and policy change remains an underexplored yet

promising avenue. Harnessing AI could revolutionize our field but requires thoughtful implementation and robust support.

Under my leadership, the Child Neurology Society (CNS) could play a pivotal role in helping its members tackle the above challenges. To promote equitable access, we could advocate for policies that support telehealth infrastructure and reimbursement parity, ensuring that all children can receive specialized care regardless of their location. Addressing insurance barriers would involve lobbying for legislation that allows for broader use of pediatric medications and streamlining approval processes. To empower providers, the CNS could establish dedicated advocacy training programs and secure funding for initiatives that enable neurologists to champion their patients’ needs effectively. We could explore integrating AI into clinical practice, offering workshops and resources to help members leverage these technologies effectively. Ensuring that AI tools are accessible and user-friendly will be crucial in enhancing diagnostic accuracy and treatment personalization in the future. Furthermore, the CNS should include its youngest members earlier on in fun and accessible ways, fostering engagement and nurturing the next generation of child neurologists. Initiatives such as interactive educational programs, mentorship opportunities, and handson experiences can inspire and prepare young members for future leadership roles. By focusing on these strategic areas, the CNS can foster a supportive environment where child neurologists are equipped with the tools, resources, and backing necessary to overcome the obstacles they face and deliver the highest standard of care. •

COUNCILOR FOR THE WEST NOMINEE

Evan Snyder, MD, PhD, FAAP

I’ve devoted my career to bridging the scientific and clinical worlds and trying to inspire and teach others to do the same. I’m a board-certified pediatrician, neonatologist, and child neurologist (possibly the first to be so triple-boarded) as well as a stem cell biologist and developmental neuroscientist. I’ve been gratified to be regarded as one of the “fathers” of the stem cell field, having introduced the concept that neural plasticity, as mediated by neural stem cells (NSCs), might be harnessed therapeutically (we demonstrated the existence of isolatable, engraftable NSCs, arguably the first solid organ stem cell discovered). The insights that made these observations possible derived directly from being at bedside, caring for normal and abnormal babies. Therefore, it was personally rewarding that those findings were first made public at the CNS Annual Meeting. where I received the Philip P. Dodge Young Investigator Award. I’ve spent my career showing that insights and principles derived from the newborn brain are broadly applicable to many disorders and therapies, including in the adult brain. We helped pioneer using stem cells to model development and disease, including complex polygenic processes. Most clinical trials involving stem cells to date are predicated on precepts we described; and those insights derived from the babies for whom I cared. Indeed, I’m preparing to launch a clinical trial using NSCs for neuroprotection in perinatal asphyxia, marshaling a career’s worth of observations on mechanisms-of-action.

As a “bridge person.” I have tried to help reinforce scientific rigor and biological/ developmental principles to translational/ clinical investigations, while also helping to bring real-world, patient-oriented insights to the basic science world.

I earned my MD-PhD at Penn (via MSTP) and studied psychology, philosophy, and linguistics at Oxford. I completed residencies in pediatrics and neurology and a fellowship in Neonatology at Boston Children’s Hospital (where I also served as Chief Resident in Medicine and then in Neurology). Concurrently, I did postdoctoral research in Genetics at Harvard. In addition to joining Children’s clinical faculty, I started my independent lab there, where I helped define the basic and translational properties of stem cells. I was recruited to Sanford Burnham

Prebys and UCSD as a Professor to start/direct a Center for Stem Cells and Regenerative Medicine and help build California’s stem cell program. I’m a Fellow of the American Academy of Pediatrics and have been elected to the Association of American Physicians and to the American Institute of Medical and Biological Engineering. I served two terms as Chairman of the FDA’s Cell, Tissue, and Gene Therapy Advisory Committee (after helping found its precursor) and presently chair the SAB of NIH’s Human Genetic Disease Biobank. I’m a Diplomate of the Health Leadership Academy. I served as president of the American Society for Neural Therapy and Repair and received its Sanberg Award for lifetime achievement. I’ve produced >300 publications and >30 patents and have mentored >160 trainees at all career levels and from all backgrounds.

My proudest accomplishment was having Steve Ashwal include my biography in his Child Neurology: Its Origins, Founders, Growth and Evolution (2021).

Four areas that have characterized my academic career were, indeed, nurtured by CNS: (1) The excitement of training the next generation of child neurologists; (2) The thrill of discovery and making an impact on kids’ lives not solely through being facile with today’s skills, but also by advancing beyond what we know now; (3) Serving as a “bridge” between the clinical, translational, basic science, and ethics worlds; (4) Engaging as many kindred spirits as possible in these visions – a commitment to “Diversity, Equity, Inclusion.” Each area nurtures the others.

I’ve always been impelled to share with others – especially trainees – the excitement I feel in trying to understand the newborn brain and in trying to prevent or ameliorate damage. I had a freshly-minted PhD in developmental neurobiology when I entered the NICU as an intern and became enthralled not only with watching the last trimester of CNS development unfold, but also with how little was known

Evan Snyder, MD, PhD, FAAP

about the newborn brain: how to examine it, ensure its healthy development, repair it. It was my amazement at the degree of plasticity I observed at the bedside that impelled me to identify and isolate neural stem cells in the 80s/90s. I continued to embrace pediatric brain diseases as models for delineating the translational potential of the stem cell. My zeal in kindling this excitement in others of bridging bedside-tobench is why I love being on service with trainees and taking my grad students to the bedside. I love making others see the clinic as a place that constantly challenges our curiosity. How one pursues that curiosity is simply a matter of temperament and interest. Wherever I’ve taught and practiced, I’ve established interactive teaching sessions called “Bedside-to-Bench Rounds” – note: NOT “Bench-to-Bedside.” Here, clinical cases are presented, and participants stimulated, in a Socratic fashion, to contemplate how the conundrums of a clinical manifestation (at the “bedside”) may be broken down into hypotheses regarding etiology, pathophysiology, and treatment that may be tested experimentally (at the “bench”) – and ultimately, brought back to the “bedside.”

In addition to writing in standard textbooks, I co-edited Case Files in Neuroscience and have written Clinical Implications of Basic Science pieces for NEJM and Nature Medicine. I’ve striven to be inclusive in these goals and reach-out. I’ve mentored in the Four Directions Program for Native Americans; sat on the SAB of an NIH Diversity Research Education Program dedicated to grooming physician-scientists from URM communities; served as co-investigator on three NIH grants to bring minorities into the NeuroAIDS, cancer, and addiction fields (receiving a “Pioneer Award”); striven to ensure opportunities for the under-represented as a steering committee member of UCSD’s MD-PhD program; am the director/ co-director of 3 California training programs devoted to enhancing DEI; was appointed to the WHO Research Review Roster; serve on the SAB of Americans for Cures; and have advised Congress from the Bipartisan Policy Center’s Expert Panel. I even serve on California’s Emergency Medical Services

Authority, and, during the Pandemic, did intensive care in an underserved community in California.

What are the most challenging issues facing child neurologists today, and how would the CNS, under your leadership, help its members meet those challenges?

During my decades as a CNS member, I’ve been impressed with how it has grown, under excellent leadership, in the directions I value, as profiled routinely in the CNS Open Forum. I hope to help foster that continued growth. As noted in my previous statements, I’ve strived to be a “bridge physician” in many areas of the life sciences – creating interfaces between disciplines: basic, translational, and clinical research with patient care; training, education, and outreach with communication; therapeutic development with regulation; ethics with health care politics; academia with the private sector. Navigating these relationships is one of our field’s challenges because life science is now too complex and the requisite skill sets too varied to be siloed. If fortunate to be elected to a leadership position, I would bring my organizational experience in bridging these areas and catalyzing interactions (some of which may actually be grant-worthy and revenuegenerating for CNS).

Some ideas:

• Greater engagement with entities that do not yet appreciate that CNS is the “go-to” society for insight into childhood neurological disorders, treatments, and data.

o An example: I serve as chairman of the SAB to NIGMS’s Human Genetic Cell Repository. The majority of the diseases banked and profiled are pediatric/inherited neurologic conditions, yet there is little input from child neurologists. CNS could be involved in expanding and generating both the biobank and the databases. We could not only contribute to, but benefit from this resource. Becoming involved in “Big Data” and personalized/precision medicine

(single cell ‘omics, functional cell read-outs, identification of biomarkers and, hence, mechanisms and drug targets) is the future of clinical neuroscience. We, as clinicians and clinician-investigators in CNS should be there.

o Establishing a series of standing “subspecialty experts bureau” that can provide consultation (on a prn basis) to health care, regulatory agencies, government, legislators, foundations, and (with proper guardrails) even the private sector –on medical needs, clinical trials, bedside realities.

o Greater outreach to both professional and lay communities on topics of broad interest, not only transmitting information (and combatting misinformation), but also making such groups recognize how central neurologic health is to all of pediatrics, and ultimately medical well-being broadly. I’m constantly distressed by how little is known about pediatric disease in general and neurological disease in particular. Regular podcasts created and sponsored by CNS might be a start.

o Such engagement will help ensure that evidence-based medicine informs clinical care.

• Engaging the passion of trainees through CNS-sponsored mini-rotations/ preceptorships in various unique clinical or research settings nationwide.

• “Special Interest Groups” that meet by zoom more frequently than the annual meeting to discuss topics, papers, collaborations, grants, updates, controversies – and come out with position and white papers.

• Commitment to DEI. I subscribe to the notion that bias-proof scientific consensus cannot be reached without diversity. Hence, I advocate for more active outreach to URM communities, starting in college and, of course, med school and residency.

• Championing bringing care to the underserved •

CNS CONNECTIONS

EDITOR

Daniel J. Bonthius, MD, PhD

Medical Director, Pediatric Neurology

Levine Children’s Hospital

Child Neurology Synapses

When the Technology Changes, We Change with It

“Diagnostic yield of CSF testing in infants for disorders of biogenic amine neurotransmitter metabolism.” R. Kessler et al., Neurology 2024;102:e209300.

What the researchers did:

Infants with neurologic disorders often present with nonspecific signs, such as seizures, hypotonia, and developmental delay. These signs declare that something is amiss but do not provide much insight into etiology. Neurotransmitter disorders are often on the differential diagnosis, and, when diagnosed early, may be amenable to specific therapies. Thus, a test that can promptly and reliably diagnose neurotransmitter disorders could be of great value. Traditionally, biochemical analysis of cerebrospinal fluid for genetic disorders of neurotransmitter synthesis, metabolism, or transport have

been conducted. This test examines for patterns of abnormal metabolite or cofactor levels consistent with a defect in the metabolic pathways for biogenic amines, including serotonin, epinephrine, norepinephrine, and dopamine. However, the CSF biogenic amine neurotransmitter (CSFNT) test is fraught with problems and limitations. For example, biogenic amine concentrations in CSF vary along a rostral-caudal gradient, such that reference value determinations depend on how much CSF is obtained and the order in which the samples are taken. Furthermore, normalized values vary with age during the first year of life and can be affected by medications. Thus, the interpretability of the lab values can be questionable. Furthermore, nextgeneration genetic sequencing allows for the rapid assessment of large numbers

of the genetic defects that underlie neurotransmitter disorders. This calls into question the value of CSFNT as a diagnostic test for the evaluation of infants with neurologic disorders. Therefore, a group of researchers at Children’s Hospital of Philadelphia and Boston Children’s Hospital sought to determine the diagnostic yield of CSF testing for biogenic amines and their cofactors in identifying inborn errors of neurotransmitter metabolism in infants with neurologic signs. In addition, they sought to identify clinical characteristics most likely to lead to diagnostic CSFNT test results and to compare the diagnostic yield of other tests performed on infants who underwent CSFNT testing.

What the researchers found:

The researchers conducted a retrospective cross-sectional study in which they investigated the diagnostic yield of CSFNT testing on 323 infants with neurologic signs, the most common of which were seizures, hypotonia, and developmental delay. They found that the diagnostic yield of CSF testing for biogenic amines and their cofactors was zero. None of the CSFNT tests that were conducted over the course of nine years at those two large children’s hospitals yielded a specific diagnosis. A test of pyridoxal-5-phosphate, which is often done in conjunction with testing for CSF neurotransmitters, was positive in a single infant, making the diagnostic yield 0.3%. However, that was the exception that proved the rule, as pyridoxal-5phosphate is not a biogenic amine or a neurotransmitter. In contrast to CSF biochemical testing, genetic testing had a much higher diagnostic yield, as it revealed a diagnosis in 120 (37%) of these same patients.

What

the research means:

For the evaluation of infants with neurologic symptoms, the diagnostic yield of CSF tests for biogenic amine neurotransmitters is very low. Genetic testing is much more effective, as it can often identify primary neurotransmitter disorders that are missed by CSFNT testing. Furthermore, genetic testing is much less invasive and labor-intensive than CSF testing, as blood-draws and cheek-swabs are much easier to perform than lumbar punctures, especially on infants. In addition, CSF biogenic amine results have many more potential sources of inaccuracy than genetic testing does. All of this suggests that the days in which CSFNT should be used to screen for inborn errors of neurotransmitter metabolism have come and gone. For the diagnosis of most infants with neurologic signs, genetic testing is much better. However, this is not to say that CSF biogenic amine tests are completely obsolete. As the authors point out, biochemical testing of CSF metabolites has a role in confirming or refuting genetic sequencing results, especially those that show variants of unknown significance. This test may also be useful for those patients in which there is a high degree of suspicion, due to a cluster of clinical signs suggestive of a particular disorder. And, of course, CSF tests can be highly useful in other neurometabolic disorders, such as glucosetransporter type 1 (GLUT-1) deficiency (in which CSF glucose concentrations are low) and hyperglycinemia (in which CSF glycine concentrations are high). This study provides an excellent example of how the advent of a new technology (next generation genetic sequencing) has ushered in a whole new approach to diagnostic testing. •

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CNS CONNECTIONS

EDITOR

Daniel J. Bonthius, MD, PhD

Medical Director, Pediatric Neurology Levine Children’s Hospital

Preventing the Problems of Tuberous Sclerosis Before They Arise Child Neurology Synapses

“Preventive treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results.” JK Capal, et al. Annals of the Child Neurology Society 2024;2:106-119.

What the researchers did:

Tuberous sclerosis complex (TSC) is a genetic disorder with manifold neurodevelopmental symptoms that often include epilepsy, cognitive impairment, and autism. In most cases, epilepsy has its onset in the first year of life and typically presents as focal seizures or infantile spasms. In TSC, early onset of seizures, before 12 months of age, is associated with increased rates of developmental delay and autism. Conversely, when

seizures do not occur in the first 12 months, developmental progress is often much better. These observations offer the tantalizing proposition that preventing or delaying seizure onset in TSC could improve neurodevelopmental outcomes. TSC is caused by mutations in either of two genes (TSC1 and TSC2) that control function of the mechanistic target of rapamycin (mTOR). Disruption of the mTOR pathway leads to dysregulated cell growth, metabolism, and division, which underlie the symptoms of TSC. It follows that inhibition of mTOR could improve TSC symptoms. Indeed, the mTOR inhibitors, everolimus and sirolimus, can improve many manifestations of TSC, including subependymal giant cell astrocytomas,

renal angiomyolipomas, and facial angiofibromas. In all of these instances, the mTOR inhibitors are used to treat TSC manifestations after they have already developed. However, the possibility exists that mTOR inhibitors could also be used to prevent TSC manifestations before they develop. This study examined the safety and efficacy of administering sirolimus to infants with TSC during the first 12 months of life.

What the researchers found:

The researchers conducted a prospective, open-label phase 1 clinical trial of sirolimus in five babies with TSC who had no prior history of electrographic or clinical seizures. The treatment began at approximately 1.5 months of age and continued through at least 12 months of age. Most of the babies received the sirolimus treatments through 24 months. The dose was individualized for each infant to maintain blood levels at a target range between 5 and 15 ng/ml. The researchers found that sirolimus was well tolerated by the infants. Although adverse events were common, most were mild. The most serious adverse event was elevated lipids on safety screening labs, which normalized on subsequent blood draws. Through 12 months of sirolimus treatment, two of

the five infants developed seizures, one of which developed infantile spasms that responded to vigabatrin. Between 12 and 24 months, a third infant developed focal seizures. All three of the infants who developed seizures were well controlled by anticonvulsants. Four of the five infants scored in the normal range on the Bayley test of global development, tests of adaptive behaviors, and tests of total language at 24 months. One of the five infants was diagnosed with possible autism.

What the research means:

The results of this study suggest that the mTOR inhibitor, sirolimus, can be administered safely to infants with TSC during the first year of life. Although the study did not include a control group, was not blinded, and included only a small number of subjects, the results suggest that sirolimus administration to infants with TSC may improve their neurodevelopmental and epileptic outcomes. Thus, perhaps the most important message of this study is that child neurology is becoming a field in which the problems for some patients are averted rather than treated. •

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CNS CONNECTIONS EDITOR

Daniel J. Bonthius, MD, PhD Medical Director, Pediatric Neurology

Levine Children’s Hospital

Child Neurology Synapses

New Relief for Children with Migraine: Wearable Devices

“Acute treatment of migraine in children aged 6-11: Real world analysis of remote electrical neuromodulation (REN).”

K. Werner, et al., Annals of the Child Neurology Society 2024; 2:135-145.

What the researchers did:

Migraine headaches affect up to ten percent of children under the age of 12 years. In addition to headache and the “classical” symptoms of migraine, such as nausea, vomiting, photophobia, and phonophobia, children under 12 often experience “non-classical” symptoms, such as pallor and abdominal pain as part of their migraine syndrome. Because migraine attacks are so common and debilitating in young people, they are the second-most

prominent contributor to disability-adjusted life years in adolescents and young adults. However, despite the prevalence and negative impact of migraine in children, the availability of treatment options for them is very limited. Presently, only a single pharmacologic agent (rizatriptan) is FDA-approved for the treatment of migraine in children 6-12 years old. Thus, there is a tremendous need to expand treatment options for migraine in children. Recently, noninvasive neuromodulation devices have been introduced as potential migraine treatments. Among these devices is remote electrical neuromodulation (REN), a wearable device that is applied to the upper arm with an adjustable armband. It delivers recurrent square pulses of

electrical current to the user’s arm, with an adjustable intensity via a smartphone app. The patient adjusts the intensity so that it is strong but not painful. The device is thought to produce its efficacious response by triggering an inherent pain relief mechanism called “conditioned pain modulation” by electrically stimulating nociceptive nerve fibers in the upper arm, inducing a sub-painful sensation. Each treatment lasts 45 minutes, and because the devices are so lightweight and non-intrusive, the user can continue normal activities while using the device. Multiple studies have shown that REN can effectively abort and prevent migraine attacks in adolescents and adults. This study evaluated whether REN is safe and effective for children 6-11 years of age.

What the researchers found:

For this prospective study of acute migraine headache treatment, 293 children, aged 6-11, activated the REN at the onset of migraine headaches. Data were collected through the REN device smartphone application. At the onset of treatment and two hours post-treatment, the patients answered questions regarding headache severity, associated symptoms, and whether they used rescue medications. The researchers found that the REN device was very well-tolerated and safe. Less than one-third of the patients discontinued the therapy after only several treatments, and no adverse events were reported. The REN device was also effective. Pain relief was achieved in 72% of patients, and pain freedom

was achieved in 36%. The REN not only relieved pain but also relieved associated symptoms of migraine. Large proportions (>50%) of patients had relief from nausea/ vomiting, phonophobia, and photophobia. In addition, functional disability freedom improved substantially. For almost half of these patients, the REN achieved this success as a stand-alone therapy, although the device was also used effectively in combination with prescribed and overthe-counter medications. Thus, this study demonstrated that the wearable remote electrical neuromodulation (REN) device is safe and effective for the treatment of acute migraine headaches in children aged 6-11.

What the research means:

The safety and efficacy of REN provides further evidence that nonpharmacologic neuromodulatory devices will likely have a prominent place in the list of treatment options for migraine headache. This is especially true for children, where treatments that avoid pills and needles have an even higher premium. One possible “weakness” with REN is that it may be achieving a lot of its success through a placebo effect. However, this is not really a weakness. If a patient with a headache feels better and is less disabled, then that patient feels better and is less disabled – no matter how that success was achieved. •

2024 Arnold P. Gold Foundation Humanism in Medicine Award

Dave Clarke, MD

BY JORGE VIDAURRE, MD

Dr. Dave Clarke is a Professor of Neurology and Pediatrics at Dell Medical School. He is the current Chief of Pediatric Epilepsy at Dell Children’s Comprehensive Epilepsy Program and the Kozmetsky Family Endowed Chair in Pediatric Epilepsy. Dr. Clarke was born in Antigua, West Indies, and he completed his Bachelor of Medicine, Bachelor of Surgery (MBBS) at the University of the West Indies, Mona, Jamaica. Dr. Clarke completed his child neurology residency at the University of Michigan Medical Center, Ann Arbor, and his neurophysiology fellowship at the University of Toronto, Hospital for Sick Children, Canada, with a recent certificate in public health at the University of Texas, Houston. Before returning to Austin, Dr. Clarke held leadership positions at La Bonheur Children’s Medical Center, the University of Tennessee, and Baylor College of Medicine.

During his training and academic career, Dr. Clarke was influenced and mentored by pediatric neurology giants in the field, such as O. Carter Snead III, Nico Moshé, Faye Silverstein, Robert Gray, James Wheless, E. Steve Roach, and many others.

Dr. Clarke has also occupied numerous leadership positions in multiple national and international societies. For example, he served as the secretary/treasurer for the National Association of Epilepsy Centers and president of the Epilepsy Society of the Caribbean. He has been the recipient of multiple honors and awards in recognition of his humanitarian work, including the Student Humanitarian Award (during fellowship at Sick Kids), the J. Kiffin Penry Award for Excellence in Epilepsy Care from the American Epilepsy Society, and

the Ambassador of Epilepsy Award from the International League Against Epilepsy/ International Bureau for Epilepsy.

In addition to his successful academic life, Dr. Clarke has found time in his busy schedule to organize and participate in international outreach projects for many years, providing care and organizing international training programs to improve epilepsy care in poor resource regions. Dr. Clarke’s determination, combined with his soft demeanor and humble personality, helped him to develop large collaborative projects between local leaders and government with the support of national and international societies. One of his major outreach programs was directed to the Caribbean region, a remarkbly complex part of the world with diverse socioeconomic and cultural backgrounds. Despite these challenges, Dr. Clarke implemented multiple projects to improve the care of children with epilepsy in this region. These programs included training local personnel in epilepsy, EEG, dietary therapy, and epilepsy surgery for patients with drug-resistant epilepsy. He has ongoing participation in the clinical care of patients in three Caribbean countries.

Dr. Clarke’s work extends well beyond the Caribbean. As a member of the International Affairs Committee for the Child Neurology Society, he helped to develop training programs related to epilepsy and EEG in Ghana. He has lectured to medical students and at Moi University in Kenya. In his tireless efforts to improve access to care for underserved children, he has contributed to improving infrastructure in resource-limited countries. He is now working with colleagues to

Dave Clarke, MD

expand training projects in countries in the African and Caribbean regions.

Dr Clarke’s area of research focuses on drug-resistant epilepsy, pediatric epilepsy surgery, and global health. He has delivered approximately 100 national and international talks and has been an invited speaker at multiple societies and in different countries, including the Caribbean, African, Asian, and European regions. He has organized many symposiums to raise awareness about the obstacles faced by colleges practicing in resource-limited regions and the importance of culturally sensitive interventions.

Dr. Clarke has mentored numerous medical students, residents, fellows, and younger colleagues nationally and internationally. Most importantly, he is a dedicated, compassionate physician who prioritizes patients’ interests.

On a personal level, I have known Dr. Clarke for about 20 years. He has been a constant inspiration for my international work. Through my interactions with him, I learned the importance of respect, cooperation, and keeping a cheerful and positive attitude when engaging in collaborative projects.

Finally, Dr. Clarke could not have accomplished his work without the support of his wife, Sophie, and their children, Taara (27) and Cameron (25). •

NOVEMBER 11-14 | SAN DIEGO, CA

2024 Roger & Mary Brumback Lifetime Achievement Award

Roy Elterman,

MD

BY ALISON CHRISTY, MD, PHD AND DEBORAH HIRTZ, MD

A lifelong caretaker for others, Dr. Roy Elterman transformed the world of child neurology through his work in clinical trials of medications for epilepsy and his development of the Pediatric Epilepsy Research Foundation (PERF®).

Dr. Elterman was born in Florida and seriously considered becoming a veterinarian. He started his freshman year at the University of Florida in Gainesville, then studied chemistry at the University of Miami. However, he applied to medical school at the University of Miami and was accepted even before completing an undergraduate degree.

In medical school, he was inspired by the work of pediatric neurologist Stuart Brown. He attended the University of California – San Francisco for two years of pediatric residency, then studied child neurology at the University of Texas Health Sciences Center in San Antonio.

After a stint in the Air Force, Dr. Elterman went into private practice at Dallas Pediatric Neurology Associates, where he was a beloved clinician. His former patients describe him as enormously empathetic and vastly knowledgeable, who listens closely and ensures that things are done correctly. While seeing patients in the clinic, Dr. Elterman was also engaged in clinical trials of pediatric medications for epilepsy, including valproate, lamotrigine, levetiracetam, and topiramate. He attended as a clinical professor of neurology at the University of Texas Southwestern Medical Center in Dallas.

In the 1990s, few medications were available in the United States for children with intractable infantile spasms.

Vigabatrin was used in other countries for this indication, and some small studies showed promise. With pediatric neurologist Donald Shields, Dr. Elterman decided to make vigabatrin available for American children with infantile spasms. In 1994, they filed an Investigational New Drug Application with the Food and Drug Administration. They initiated a US trial comparing low-dose and highdose vigabatrin and organized a national multicenter collaboration – the Vigabatrin Infantile Spasms Study Group (VISSG) – so that child neurologists all over the United States could utilize vigabatrin for patients as part of their trial.

Ovation Pharmaceuticals eventually purchased the rights for vigabatrin and sought FDA approval. They agreed to pay Dr. Elterman and Dr. Shields royalties for their data from the VISSG study. Vigabatrin finally achieved FDA approval in 2009. Dr. Elterman and Dr. Shields could have retired, very wealthy, but incredibly used their substantial royalties to create the not-for-profit Pediatric Epilepsy Research Foundation (PERF®) to support pediatric neurology research. In 2011, Dr. Elterman retired from clinical practice to take on the role of President of PERF®.

Since 2010, PERF® has provided nearly $20 million to fund more than 65 research studies, along with endowments at universities, all to expand research and education in pediatric epilepsy. PERF® provides funding for a wide variety of epilepsy early-career awards for promising child neurologists (now called the Elterman and Shields Awards); partners with the American Epilepsy Society to fund junior pediatric epileptologists;

Roy Elterman, MD

and awards grants to encourage multicenter collaborations, including the Early-Onset Epilepsy Consortium, the Neonatal Seizure Registry, and the 20-center Pediatric Epilepsy Learning Healthcare System. PERF® supports the Pellock Resident Seminar on Pediatric Epilepsy, the Pediatric Epilepsy Research Consortium, and the International Pediatric Stroke Organization.

Dr. Elterman also played a vital role in building the Child Neurology Society. As head of the Capital Acquisition Committee in its early years, he raised over one million dollars to establish the society’s endowment.

Dr. Elterman married Ragen Saphire, who taught English as a second language, in 1974. They have three children and four grandchildren, all living in the greater Los Angeles area.

PERF®’s mission statement is to “enhance the quality of life of children with epilepsy and/or other neurologic disorders.” If Dr. Elterman had only practiced exceptional clinical neurology in Dallas, he would have achieved this goal. However, his astounding work increasing the accessibility of life-changing medications for children with intractable and severe epilepsies and then establishing a foundation that will fund research, collaboration, and education in perpetuity has unquestionably changed the world of child neurology for the better. •

2024 Roger & Mary Brumback Lifetime Achievement Award

Donna Ferriero, MD, MS

BY ALISON CHRISTY, MD, PHD

Dr. Donna Ferriero is internationally renowned for her incredible impact in neonatal neurology, pioneering and refining neuroprotection in the NICU, revolutionizing how we care for our smallest patients – but her most significant contribution in the field of child neurology may be her mentorship, inspiration, and support of other child neurologists.

Dr. Ferriero grew up in New Jersey and attended Rutgers University, studying zoology. She started as a scientist, pursuing a master’s degree in immunology at Rutgers and working as a research assistant under Frank Margolis, studying the mechanism of olfaction.

Dr. Ferriero then went to medical school at the University of San Francisco, where she had a fourth-year elective with Bruce Berg, one of the founders of the Child Neurology Society. Dr. Berg’s passion and curiosity sparked her interest in pediatric neurology. She completed her first year of pediatrics residency training at Tufts, her second at Massachusetts General Hospital, and then trained in child neurology at the University of CaliforniaSan Francisco.

During her training, without earlier engagement or involvement in their care, Dr. Ferriero found herself called to the NICU to evaluate newborns for brain death. She realized there was a “big hole” in how we cared for these children. Ever the scientist, she saw that we not only needed interdisciplinary teams caring for the child at the bedside, but we also needed to understand the pathophysiology of early brain injury better. She remained at UCSF for a two-year post-doctoral fellowship in

developmental neurobiology, working with Stephen Sagar on neuronal development in brain and retina, and sowing the initial seeds of her benchwork in hypoxic-ischemic encephalopathy.

Dr. Ferriero then joined the faculty at UCSF and began a collaboration with Roger Simon, a neurologist who had created a model of adult hypoxia-ischemia. Together, they created a rodent model of neonatal HIE that became the foundation for Dr. Ferriero’s research.

Over the decades, Dr. Ferriero has demonstrated that the neonatal brain, instead of being “plastic” and easily repaired, is uniquely vulnerable to certain types of injury – and this vulnerability is maturity-dependent. In a term neonate, the abundant excitatory receptors present in the deep gray matter of the brain made that area sensitive to damage from asphyxia. The developing oligodendrocytes around the periventricular white matter in a premature brain were known to be at risk for damage. Dr. Ferriero showed that subplate neurons are affected by asphyxia in premature neonates as well.

At the bench, she investigated the root of this injury. In adult animal models, overexpression of the antioxidant superoxide dismutase (SOD) could prevent injury in stroke, but paradoxically, overexpression of SOD increased injury in Dr. Ferriero’s neonatal model. This discovery started a line of research that led to the discovery that after initial injury damages cells, a secondary phase of inflammation and oxidative stress contributes strongly to cell death – and this extended period of injury could be

Donna Ferriero, MD, MS

modifiable in a way that would be highly specific to neonates.

In the lab and the hospital, Dr. Ferriero studied therapeutic hypothermia as a method of protecting the brain during the secondary phase after injury, determining which neonates might benefit from cooling, necessary duration of treatment, and outcomes. She participated in a trial of selective cooling of the brain with a CoolCap, which increased comfort for both baby and family while still protecting delicate cells.

Dr. Ferriero also developed a model of neonatal stroke, investigating inflammatory response to ischemia and the migratory response of stem cells to infection. Clinically, she studied risk factors and outcomes for neonatal stroke and recently was involved in a phase I trial of erythropoietin (a cytokine that may counteract oxidative stress during the secondary phase of injury) for neonatal stroke. In 2019, she was the first author of the American Heart Association and American Stroke Association’s Scientific Statement on Management of Stroke in Neonates and Children.

Dr. Ferriero became Chief of the Division of Child Neurology at UCSF in 1998, then also took on the role of Vice Chair of the Department of Neurology in 2000. To these roles, she added Associate Dean of Academic Affairs in 2004, then Vice Dean in 2005. In 2010, she became Chair of the Department of Pediatrics and Physician-in-Chief of USCF Benioff Children’s Hospital.

Dr. Ferriero is currently Distinguished Professor, Emeritus, of the Departments of Neurology and Pediatrics. She has demonstrated her commitment to the Child Neurology Society, serving on many committees, including the Scientific Selection Committee, Finance, Legislative, the Long-Range Planning Committee, and the Nominating Committee. She has moderated sessions and served on the board as Councilor for the West in 2004 and as President in 2009. In 2006, Dr. Ferriero received the Bernard Sachs Award.

She is engaged in other societies as well, including the American Neurological Association, where she has been active in many committees; the American Academy of Neurology, where she received the Sidney Carter Award for excellence and leadership in child neurology; the Newborn Brain Society; the International Child Neurology Association; and the American Pediatric Society, where she served as President in 2014 and received the Mary Ellen Avery Research Award in 2024. Dr. Ferriero received the Royer Award for Excellence in Academic Neurology in 2007 and the Willis Lecture for outstanding contributions to stroke research in 2010. She was elected to the Association of American Physicians in 2011, and in 2013, she was elected to the American Academy of Arts and Sciences. She sits on the editorial boards of the Journal of Child Neurology and Pediatric Neurology, is associate editor of Pediatric Research,

and has been associate editor of Annals of Neurology and consulting editor of Stroke. Dr. Ferriero has also edited three editions of the textbook Swaiman’s Pediatric Neurology: Principles and Practice.

Dr. Ferriero is still working in the lab, investigating metabolic biomarkers to determine which neonates need further treatment after initial therapeutic hypothermia. Her impact on the field of neonatal neurology – and the lives she has saved and improved through her research in HIE – cannot be measured. Her less obvious but no less meaningful legacy will be the many pediatric neurologists who credit Dr. Ferriero with introducing them to the field of child neurology, training them, and nurturing and fostering their careers. Her teaching and mentorship are legendary. She won her first teaching award as a resident at UCSF and has continued to win teaching awards for decades. She was awarded the UCSF Chancellor’s Award for the Advancement of Women and the Maureen Andrew Mentor Award from the Society for Pediatric Research. She has created a collaborative neonatal neurology community that supports its trainees and delights in the success of its colleagues.

Dr. Ferriero tells her mentees to follow their passions, take their time, and explore what drives them – sound advice from someone whose lifetime of work has truly changed the world. •

2024 CNS Training Director Award

Nancy Bass, MD

BY ASIM SHAHID, MD, AND JESSICA GOLDSTEIN, MD

To become a child neurology training director is a calling. This position calls for a special person with a special skill set. Unlimited patience, a desire to teach, innovative and creative teaching methods, and an excellent fund of knowledge pertaining to child neurology are essential to this important role.

Child neurology residency is full of memorable experiences, no matter where you train. Those who trained with Dr. Nancy Bass experienced a residency with all the above attributes. She is known for her unique lecture series that included an annual Halloween horrors conference, holiday Gingerbread rounds, a reflex workshop in which she dressed as a reflex hammer, and an ode to the fundi while dressed as an eyeball. Blending fun with education, Dr. Bass welcomes all her learners to the child neurology party. She exudes enthusiasm to teach, taking every single opportunity to share child neurology pearls. She was destined to become a child neurologist, an educator, and a training director...or was she?

This innovative educator almost didn’t become a child neurologist. Growing up in Skokie, Illinois, she started her undergraduate studies, majoring in animal science at the University of Illinois. She was in the pre-vet program and aced her VAT (Veterinary Aptitude Test), an MCAT equivalent. Everything was on track to become a vet until that fateful day when Dr. Bass went on a required animal science trip to Kentucky Horse Park and a “Kitty Hotel.” There, she discovered she was allergic to cats and had an anaphylactic reaction! She decided to change career paths. It was too bad for the animals, but it was good for us that Dr. Bass decided

to pursue human medicine and chose the field of child neurology.

After leaving the cats behind, Dr. Bass completed her medical school and pediatrics residency at Southern Illinois University School of Medicine in Springfield, Illinois. It was there that Dr. Bass’ journey in child neurology started when she met Dr. Augusto Morales. Dr. Bass credits his passion for the field and his enthusiasm for teaching as the reasons she chose child neurology as her career.

During her Cleveland Clinic child neurology residency, Dr. Bass found a passion for general child neurology under the mentorship of Dr. David Rothner, Dr. Gerry Erenberg, and Dr. Bruce Cohen. She then packed her bags for the West Coast to join the child neurology division at UCSF and finessed her exemplary clinical skills with guidance from Dr. Bruce Berg and Dr. Donna Ferriero. While there, her exceptional teaching abilities were quickly recognized as she received the first of many teaching awards.

Dr. Bass returned to Cleveland in 1999 and joined Rainbow Babies and Children’s Hospital. At that time, the child neurology residency program was inactive. She re-activated the program, and successful recruitment started shortly after that. As the training director, she cared for her residents’ well-being and education immensely. She ensured that they were looked after when rotating in the “adult world,” with frequent check-ins and providing the flexibility in the program to spend some time in child neurology during the adult neurology year. She grew the program with a dedication to fostering the individual passions of her residents and helping them launch their careers through

Nancy Bass, MD

her mentorship and sponsorship. Dr. Bass brought an inactive program to one of the most sought-after and popular training programs through sheer determination and desire to train highly competent and successful child neurologists. Her passion for education was evident to all, with one former resident highlighting: “From the very beginning, I noticed three things about Nancy: Her enthusiasm to teach, her humility, and her ability to guide and support the residents. She brought excitement and a sense of joy to the teaching – for that, she was already well-known in the hospital. People who know her will talk about her caring attitude towards the trainees and her providing support to allow a good balance between work and life. Nancy inculcated good ethics and a desire to learn child neurology in a fun way, making difficult concepts easy to understand. She taught us to think about the patient and beyond when considering a neurological diagnosis. Considering the whole family in the treatment plan and her explanations of a diagnosis to the scared families in very simple terms made her a highly popular physician in the Cleveland area.” In 2022, Dr. Bass joined the faculty of Children’s Wisconsin in Milwaukee as the child neurology residency program director and director of child neurology education. One year after her arrival, she was recognized with the Bleser Family Endowed Chair for Neurology Education. Dr. Bass’ impact on child neurology residency education goes beyond the walls of the hospitals in which she expertly cares for patients and teaches trainees. She has served on several committees within the Child Neurology Society, the American

College of Graduate Medical Education, and the American Board of Psychiatry and Neurology. In each of these roles, she has had an important voice and lasting impact on the training of child neurologists. In recognition of her impact on the field of child neurology education, she rose to serve as president of the Professors and Educators of Child Neurology (PECN), renaming the organization to recognize more inclusive membership and sponsoring multiple junior and mid-career faculty into participation and leadership roles through the organization.

With all these accomplishments, Dr. Bass has built a legacy within the field of child neurology education. Her enthusiasm and expertise for teaching are contagious, inspiring numerous residents to follow in her footsteps and become master clinicians, clinician-educators. and program directors. A former resident, now child neurology program director, captured her impact on a generation of child neurologists in this excerpt: “I can say with confidence that I would not be the child neurologist I am today without having trained under Nancy Bass. Her commitment to training clinical child neurologists to serve their community while providing ample opportunities for individual pursuit of their aspirations stands apart and is a challenging thing to balance as a program director, but she does so with grace.”

In recognition of her many accomplishments and the lasting impact she has had as a child neurology residency program director, Dr. Nancy Bass is welldeserving of the 2024 Child Neurology Society Training Director Award. •

2024 Martha Bridge Denckla Award

Shafali Jeste, MD

BY MONICA LEMMON, MD AND JANET SOUL, MDCM, FRCPC

Dr. Shafali Jeste is an outstanding physician-scientist who has dedicated her career to advancing the care of children with neurodevelopmental disorders through pioneering research and leadership at multiple levels. She was born in the first year after her parents, Drs. Dilip and Sonali Jeste, immigrated to the US. Her interest in medicine began early, and she frequently joined her parents, both accomplished physicians, on academic trips. Dr. Jeste’s greatest talents – positivity, warmth, and curiosity – were evident even as a young child.

Dr. Jeste began her postsecondary education at Yale University, where she obtained a degree in philosophy. She then attended Harvard Medical School and completed her pediatrics and child neurology training at Boston Children’s Hospital. She remained at Boston Children’s to complete a fellowship in Behavioral Child Neurology. She was a stellar resident who quickly identified mentors and research projects to launch her research career in autism and neurodevelopmental disorders more broadly. In Boston, during her first year of residency, she started to work with Dr. Charles Nelson, a developmental cognitive neuroscientist who had just started a research program on autism and related neurodevelopmental disorders. Dr. Jeste continued to work with Dr. Nelson throughout residency and fellowship and co-authored a chapter on neurodevelopment for the late Sir Michael Rutter’s landmark edited volume on psychopathology. It was

during her time in the Nelson lab that Drs. Jeste and Nelson began to collaborate on what would become Dr. Jeste’s groundbreaking work on identifying early markers or predictors of autism in children with Tuberous Sclerosis. Dr. Jeste subsequently expanded that work to identify early EEG biomarkers and other early predictors of autism or atypical development in infants. Her work in improving early prediction and diagnostic precision in neurodevelopmental disorders has led her to work toward clinical trial readiness in these disorders.

Dr. Jeste transitioned to a faculty position at UCLA, where she was the Director of the Biomarkers Core of the UCLA Center for Autism Research and Treatment and UCLA CARING Clinic. In 2019, Dr. Jeste received the White House Presidential Early Career Award for Science and Engineering for her thought leadership in early predictors and treatments for neurodevelopmental disorders. As evidence of her scientific rigor and productivity, her research has been consistently funded through NIH and many private foundations associated with autism and specific neurodevelopmental disorders. She currently has a dozen research awards.

In 2021, Dr. Jeste began her role as the Las Madrinas Chair and Chief of Neurology at Children’s Hospital Los Angeles. Dr. Jeste has held leadership roles in major national and international organizations, including current service on the Board of Directors of the American Brain Foundation, the National

Shafali Jeste, MD

Organization for Rare Disorders, and the International Society for Autism Research. Her fierce commitment to the needs of the patients and families that she serves drives her work. Dr. Jeste has partnered with and served within multiple advocacy organizations, including the Dup15q Alliance and the Tuberous Sclerosis Alliance.

Dr. Jeste co-founded the non-profit ACEing Autism, which uses tennis as a mechanism to promote personal growth and social connection in children with autism. This nationwide program was awarded the USTA’s Community Service Award in 2014 and currently serves children in 27 states. When she is not in the lab or clinic, one might find Dr. Jeste cheering on her sons, Nischal and Kiran (both nationally ranked tennis players), training for a marathon, or hosting a ping pong tournament for her colleagues. Her many undergraduate, medical student, post-graduate, and faculty mentees have greatly expanded Dr. Jeste’s impact. Dr. Jeste prioritizes mentorship and the career development of aspiring clinicianscientists and leaders in child neurology and neurodevelopmental disabilities. As the Chief of Pediatric Neurology at CHLA, she is now using her considerable skills and experience to develop the institution and its faculty.

Following the career path of Dr. Denckla, Dr. Jeste is a true “triple threat,” with exceptional research, teaching, and clinical skills. Her longtime colleague and friend, Dr. Sarah Spence, began sharing patients as they crossed from Boston Children’s Hospital and UCLA. Twenty years later, they still share stories of their patients, who express ongoing gratitude for Dr. Jeste’s compassionate clinical care. While Dr. Jeste’s academic accomplishments speak for themselves, the humanity with which she does her work distinguishes her career. She is a relentless extrovert whose curiosity, warmth, and enthusiasm are infectious. Dr. Jeste carries on the exceptional legacy of Dr. Martha Bridge Denckla through her commitment to rigorous science, expert clinical care, and dedicated mentorship •

2024 Philip R. Dodge Young Investigator Award

Fiona Baumer, MD

BY BRENDA PORTER, MD, PHD

Dr. Fiona Baumer is an Assistant Professor of Neurology and Neurological Sciences at Stanford University School of Medicine. She hails from Sunnyside Avenue in Pleasantville, NY, where her first foray into neuroscience was looking at opioid pharmacodynamics under the patient and generous guidance of Dr. Richard Bodnar. Dr. Baumer started on her path toward a career in clinical research after a close friend was diagnosed with bipolar disorder. As an undergraduate in the Stanford Pediatric Bipolar Disorders Clinic, she found that children with a family history of bipolar disorder have a high risk of developing mania when exposed to certain antidepressants. This experience cemented for her a desire to study pediatric disorders, leading her to a post-college job in pediatric neuroradiology at University of California, San Francisco, where she assisted Dr. Orit Glenn in assessing fetal diffusion tensor imaging (DTI) as a biomarker of neurologic outcomes in children with prenatally diagnosed ventriculomegaly. As a medical student and then a resident in Dr. Mustafa Sahin’s lab at Harvard, Dr. Baumer worked closely with Dr. Jurriaan Peters to study imaging biomarkers of developmental outcomes in children with Tuberous Sclerosis Complex (TSC), describing that poor white matter integrity was associated with autism and intellectual disability. The TSC population piqued her interest in the relationship between epilepsy and cognition, and it sparked her desire to subspecialize in pediatric epilepsy as she hoped to understand this interplay and develop interventions that improve cognitive outcomes.

During epilepsy fellowship at Stanford, Dr. Baumer joined the lab of Dr. Amit Etkin, a psychiatrist who urged her to consider that cognitive disturbances in epilepsy may be caused by disruption, not of a single brain region but rather of broader neural circuits. She gained expertise in transcranial magnetic stimulation (TMS) paired with EEG. TMS is a unique tool as it is one of the only non-invasive ways to test the causal influence of one brain region on others. TMS also has exciting therapeutic potential because, when applied in repetitive trains (rTMS), it leads to long-lasting neuromodulation. With a mentorship team including Dr. Robert Fisher, a leader in invasive neuromodulation, and Dr. Alex Rotenberg, an expert in pediatric TMS, Dr. Baumer conducted the first TMS-EEG study in children with epilepsy, focusing on a common syndrome called self-limited epilepsy with centrotemporal spikes (SeLECTS). In SeLECTS, pathological electrical activity called spikes arise from the motor cortex, yet children develop language difficulties. Dr. Baumer discovered that TMS-EEG measurements of plasticity from the motor cortex strongly predict language learning, leading her to posit that epilepsy disrupts language by altering connectivity between motor and language regions.

Dr. Baumer’s lab has pursued this hypothesis using a two-pronged approach. The first arm of her research focuses on determining how brain connectivity is altered in SeLECTS and whether connectivity is associated with language function. In a paper that won the American Epilepsy Society Young Investigator Award, Dr. Baumer found

Fiona Baumer, MD

pathological hyperconnectivity between the left inferior frontal region (critical for expressive language) and the epileptic motor regions. In follow-up work funded by her K23 career development award, she has been pairing careful language phenotyping with connectivity measured as children perform language tasks to better understand the impact of this connectivity on language performance. She has found that children with higher connectivity between motor and language cortices perform worse on language tasks, suggesting hyperconnectivity has negative functional consequences. The second arm of Dr. Baumer’s research aims to modulate spikes and connectivity using rTMS. Her lab has recently found in a sham-controlled trial that a single dose of rTMS transiently reduces connectivity in SeLECTS, potentially by reducing spike frequency. Dr. Baumer’s lab is now working to better understand the way that connectivity changes over time while also building toward clinical application of rTMS. Currently, rTMS has FDA-cleared applications for several neuropsychiatric disorders but not yet for epilepsy. Her long-term goal is to utilize rTMS therapies for optimized/ personalized treatment of intractable epilepsy and cognitive dysfunction. She has a specific interest in developing such therapies for children with Developmental/Epileptic Encephalopathy with Spike Wave Activation in Slow Wave Sleep (D/EE-SWAS), a condition that has fascinated and frustrated her since she

learned about it as a neurology subintern during a lunchtime lecture from Dr. David Urion.

Due to her interest in the role of spike waves on cognitive impairment, Dr. Baumer has also worked closely with the Pediatric Epilepsy Research Consortium (PERC) D/EE-SWAS, Infantile Spasms, and Sunflower Syndrome Interest Groups (SIGs) and published several papers on these disorders. Treatment of D/EE-SWAS is controversial, and the SIG collected data about treatment regimens and clinical course of children seen across the country. Dr. Baumer led a comparative effectiveness analysis showing that while antiseizure medications are the most common first-line therapy, they are less likely to result in clinical or electrographic improvement than steroids or benzodiazepines. Her work on disparities in treatment for infantile spasms was widely publicized for the shocking inequities in the use of first-line therapies in Black, non-Hispanic patients and those with public insurance. At Stanford, Dr. Baumer is also the medical director of the pediatric TMS lab. She is an expert in the use of TMS to identify eloquent cortex in patients with intractable epilepsy and a co-PI for a National Consortium of Pediatric TMS Centers funded by the Pediatric Epilepsy Research Foundation. Dr. Baumer is committed to her patients and their families and strives to improve all aspects of their quality of life. She is a generous and passionate colleague, helping her coworkers focus on the best outcomes for their patients,

providing an excellent moral compass for compassionate care, and pushing us to do rigorous and innovative research. She takes her role as a mentor seriously and delights in the accomplishments of her postdoctoral, medical, and undergraduate students, as well as her research coordinators, all of whom she tries to recruit into child neurology.

Dr. Baumer has also learned that it takes a village to run a trial and would like to acknowledge her incredible work family, particularly those who mentor and sponsor her, including Drs. Brenda Porter, Heidi Feldman, Christopher Lee-Messer, and Paul Fisher; the Stanford research team, especially Ms. Sweta Patnaik; and the neurologists, neuropsychologists, nurses, case managers, and EEG technologists who continuously contribute to these clinical research efforts. She is very grateful to all the children and their families who have participated in this work and inspired her with their questions and insights. Finally, and most importantly, Dr. Baumer loves and supports her own family as a daughter, sister, aunt, wife, and mother. Her work would not be possible without the emotional and technical support of her husband Keh-Li, who has ssh-ed into many a coding pipeline, and her children, Faye, Ronan, and Mairead, who pilot EEG tasks, keep her current on topics ranging from Bluey to T. Swift and teach her daily about the joys and challenges of cognitive development. •

2024 Bernard Sachs Award

Elizabeth C. Engle, MD

BY MUSTAFA SAHIN, MD, PHD AND ANNAPURNA PODURI, MD, MPH

Dr. Elizabeth Engle is a quintessential child neurologist physician-scientist who single-handedly established a new field of investigation into disorders of cranial nerve development. The impact of her work has been enormous in defining new congenital syndromes and their genetic etiologies and in delineating mechanisms underlying motor neuron and axon development in health and disease.

Dr. Engle grew up in Columbus, Ohio, as the daughter of two Ohio State University professors. She excelled at studying cello and traveled the world before becoming the remarkable physician-scientist we know today. After graduating summa cum laude from Middlebury College, Dr. Engle received her medical training at Johns Hopkins University School of Medicine. She trained for three years in pediatrics at Johns Hopkins, one year in neuropathology at Massachusetts General Hospital, and three years as an adult and child neurology resident in the Longwood / Boston Children’s Hospital (BCH) program. After postdoctoral research training in Genetics with Alan Beggs and Lou Kunkel, she joined the faculty in 1997. Dr. Engle quickly rose through the ranks to become full Professor at Harvard Medical School in 2008, the same year she was appointed as an Investigator of the Howard Hughes Medical Institute.

Dr. Engle became interested in the genetic and neurodevelopmental basis of cranial motor neuron disorders following a clinical encounter in 1992 during her senior residency year at BCH. She saw a one-year-old and many of his relatives with congenital ptosis and with both eyes ‘fixed’ in a downward position. He was diagnosed with the rare autosomal dominant disorder ‘congenital fibrosis

of the extraocular muscles’ (CFEOM), a disorder of unknown cause thought to be due to primary fibrosis of the extraocular muscles. Dr. Engle hypothesized that CFEOM resulted not from primary muscle fibrosis but, instead, from a primary defect in cranial nerve development, and in the era of the early days of the Human Genome Project, she used a genetic approach to test her hypothesis. She began collaborating with clinicians worldwide to identify additional families with complex eye and facial movement disorders to define their phenotypes and genetic etiologies.

Dr. Engle established her laboratory at BCH in 1997, where she expanded her studies to encompass the genetics of other complex strabismus syndromes, including various forms of CFEOM, Duane retraction syndrome (DRS), horizontal gaze palsy (HGP), congenital ptosis, Moebius syndrome, and synkinesis syndromes. Her lab has pioneered the discovery of many genes that, when mutated, cause complex strabismus, and the lab contributed to reports of many more, often for previously unrecognized syndromes that her team defined through careful phenotyping. Supporting her initial hypothesis, detailed mechanistic studies in animal models revealed that these disorders do indeed result from errors in the development of neurons and their axonal connectivity. These include genes essential to midline crossing of axons destined to synapse on ocular motor neurons (ROBO3) or to ocular motor neuron development (HOXA1, PHOX2A, MAFB, SALL4) and genes that, when mutated, alter ocular motor axon growth and guidance (KIF21A, TUBB3, TUBB2B, TUBA1A, CHN1, ACKR3). She has extended her work to encompass inherited forms of congenital facial

Elizabeth C. Engle, MD

weakness caused by coding variants in HOXB1 and non-coding variants altering GATA2 expression, both of which alter facial motor neuron identity. Collectively, her work defined a new category of birth defects now named the ‘congenital cranial dysinnervation disorders’ (CCDD) that result from aberrant signaling to the extraocular and cranial muscles by motor neurons in the central nervous system.

Through her clinical and scientific insights, Dr. Engle recognized that cranial motor neurons provide a powerful study of normal and aberrant neurodevelopment. Small numbers of cranial motor neurons cluster together to form distinct brainstem nuclei. Each motor neuron must acquire the correct identity, migrate to its final destination, and send its axon along a stereotypic trajectory to innervate its target muscle. CCDDs perturb these genetic programs during early development, resulting in congenital, lifelong phenotypes that are visible to the examiner such that one can predict the cranial nerve that has failed to develop correctly. Her lab has focused much of their mechanistic work on genes that, when mutated, cause errors of axon growth and guidance through alterations in the microtubule and actin cytoskeleton (e.g., CFEOM1 and CFEOM3).

Most recently, Dr. Engle has taken on a major challenge in human genetics –how to interpret and prove causality of non-coding variants. Studying thirteen families with hereditary congenital facial paresis type 1 (HCFP1), her lab identified a series of single nucleotide

variants within a 30 bp segment of a highly conserved regulatory non-coding DNA element (cRE) and a series of duplications of this and two adjacent cREs. Coupling neurodevelopmental studies with single cell RNA- and ATACsequencing of wildtype and humanized mutant mice, the lab determined that these variants altered GATA2 expression in a cell-type specific fashion. They rescued the mouse facial weakness phenotype by downregulating a downstream target gene (GATA3), identified the transcription factor that binds to the conserved element specifically in developing facial motor neurons, and demonstrated a delay of a normal shift in cell identity resulting in a paucity of facial motor neurons. This tour-de-force series of experiments provides a blueprint for characterizing non-coding variants in human genetics. In addition to her innovative and highly successful scientific contributions, Dr. Engle is highly committed to training the next generation of neuroscientists and child neurologists. She is a gifted mentor and source of support to students, fellows, and faculty throughout BCH. She is co-PI of an NINDS T32 training program for postdoctoral fellows and is passionate about issues around diversity in biomedical sciences, serving as co-chair of the BCH Equity, Diversity, and Inclusion Research Committee. Dr. Engle has published many high-impact papers, given invited lectures, and served as a visiting professor at many universities and research institutions. She has received multiple prestigious

awards, including the E. Mead Johnson Award from the Society for Pediatric Research and the Sidney Carter Award from the American Academy of Neurology. She was elected to the Association of American Physicians in 2012, the National Academy of Medicine in 2019, and the American Academy of Arts and Sciences in 2023. She remains an HHMI Investigator. Her outstanding body of work has been enabled, in great part, by the wonderful support of her husband, Paul Dennehy, and their daughter, Saoirse, who is a rising senior at the University of Michigan.

In summary, Dr. Elizabeth Engle is an outstanding child neurologist and physician-scientist whose insights and discoveries defined a new field of investigation into disorders of cranial nerve and brainstem development. Her scientific success has impact on a wide range of disorders, from rare congenital disorders of cranial nerve development to one of the most common childhood disorders, strabismus. She is a passionate mentor, sponsor, and advocate of trainees and junior faculty from diverse backgrounds. Dr. Engle has received national and international recognition at multiple platforms, serving as a role model for physicianscientists in child neurology. •

2024 Hower Award

Renée Shellhaas, MD, MS

BY ALISON CHRISTY, MD, PHD

“Seek the truth, act in kindness, create beauty, do the needful deed.” Renée Shellhaas has her family motto above her fireplace, and her devotion to research, mentorship, and care in child neurology exemplifies her commitment to this creed. Internationally renowned in pediatric epilepsy, a master in the field of neonatal epilepsy and neonatal sleep studies, Dr. Shellhaas is also known for her leadership in the Pellock Seminar and her work through the Pediatric Epilepsy Research Foundation®. She is described as a tireless advocate, coach, and cheerleader for her trainees and mentees.

Born in Canada to pediatric neurology legends Carol and Peter Camfield, Dr. Shellhaas went to Middlebury College for her undergraduate education, where she learned French, studied ecology in Madagascar, and played the chapel organ and carillon. She then attended the University of Michigan in Ann Arbor for medical school. She went to the Children’s Hospital of Philadelphia for pediatric neurology residency, where she remained for a fellowship in clinical neurophysiology and started her research on neonatal seizures.

Dr. Shellhaas then returned to the University of Michigan, where she joined the faculty and rose through the academic ranks. She also continued her education there, obtaining a Master’s Degree in Clinical Research Design and Statistical Analysis through the University of Michigan School of Public Health. In 2008, she received the Child Neurology Shields Grant, a grant later supported by the Pediatric Epilepsy Research Foundation (PERF®). She would eventually be invited

to join the PERF Board of Directors and served as president-elect for two years before rising to the role of president in 2024.

At the University of Michigan, Dr. Shellhaas continued to study neonatal seizures and the neonatal electroencephalogram (EEG). In 2011, she led the American Clinical Neurophysiology Society’s Guideline on neonatal continuous EEG monitoring; she is the senior author for the upcoming revision of this important Guideline. In 2012, Dr. Shellhaas co-founded the Neonatal Seizure Registry with Dr. Hannah Glass, building a consortium of physicians and parent partners and an extensive funded research portfolio to study the complex physiology, treatment, and outcomes of newborns with seizures.

Dr. Shellhaas’ research on newborn brain monitoring led her to study neonatal sleep. Her studies on neonates with spinal cord dysraphism won her the 2015 Strategic Research Award from the American Academy of Sleep Medicine Foundation. In 2020, she won the Sleep Science Award from the American Academy of Neurology for her studies on sleep-disordered breathing and its impact on neurodevelopment in high-risk newborns. She has studied ways to improve NICU design to improve neonatal sleep – including increasing parental involvement. Dr. Shellhaas also investigated sleep in infants and toddlers during the COVID-19 pandemic.

Dr. Shellhaas has collaborated actively with colleagues from the Pediatric Epilepsy Research Consortium and the Pediatric Epilepsy Learning Healthcare System

Renée Shellhaas, MD, MS

to study the safety and efficacy of various seizure treatments in neonates, children, and adolescents. In 2021, with lead author Dr. Glass, she published important work demonstrating that antiseizure medications can be safely stopped before leaving the NICU in most cases of symptomatic neonatal seizures – now incorporated in the International League Against Epilepsy treatment guideline, this intervention that will reduce medication use for many babies and families.

In 2022, Dr. Shellhaas left the University of Michigan, where she was Director of Research in the Pediatric Neurology Division and Associate Chair of Career Development in the Department of Pediatrics, to join the faculty at Washington University in St. Louis as the David T. Blasingame Professor of Neurology and Senior Associate Dean for Faculty Promotions and Career Development.

Unquestionably, Dr. Shellhaas has devoted herself to the Child Neurology Society. She served as a Councilor from the Midwest on the CNS Board of Directors (2015-2017), chaired countless symposia and seminars, and sat on many committees, including Scientific Selection and Program Planning, Ethics, and Research. Since 2016, she has co-directed the John M. “Jack” Pellock Resident Seminar on Epilepsy, an annual seminar held in conjunction with the CNS Annual Meeting, first with epileptologists Drs. Elaine Wirrell and Phillip Pearl

and now with Drs. Giulia Benedetti and Courtney Wusthoff. In 2021, she became a founding member of the CNS Leadership, Diversity, Equity, and Inclusion task force.

Dr. Shellhaas has also dedicated her time to many societies outside of the CNS. She is an elected member of the American Academy of Pediatrics Section on Neurology Executive Committee, sits on the Board of Directors of the American Epilepsy Society, has served as an associate editor of Neurology, and is on the editorial boards of the Journal of Child Neurology, Pediatric Neurology, and the Annals of the Child Neurology Society.

Dr. Shellhaas lives with her husband and children in St. Louis, MO. She believes in combining work and family life; she received the nickname “Commander” because of her habit of sitting at a “command center” of computers to edit papers, read EEGs, and analyze research data while her children warmed up for hockey games, gymnastics meets, or music performances.

At the Pellock Resident Seminar on Epilepsy, Dr. Shellhaas gives an annual lecture on career development in which she tells the residents that once they are invited to the table, they should give their best performance so that they will be invited back and grow their careers. Following her own advice, Dr. Shellhaas always gives her all: seeking truth, acting in kindness, creating beauty, and doing the needful deeds. •

2024 Bernard D’Souza International Fellowship Award

Bolivar Quito-Betancourt, MD, Pediatric Neurologist INTUS (Instituto de Neurologia y Psicologia Infantil del Austro) and Hospital Monte Sinai, Cuenca, Ecuador CALLING

Dr. Thembi Katangwe-Chirwa, MBBS (Mw), MMED (UNIMA), FCPaed (SA), Cert Neuro Paeds (SA), MPhil Neuro Paeds (SU) Department of Paediatrics and Child Health, Kamuzu University of Health Sciences, Blantyre, Malawi and Department of Paediatrics and Child Health, Stellenbosch University, Cape Town, South Africa

Nominate yourself or a colleague for the Hower, Bernard Sachs, Brumback Lifetime Achievement, Gold Humanism, and Martha Bridge Denckla awards.

Submitting nominations is smoother than ever with our user-friendly application.

Let's honor the game-changers together!

2024 Junior Member Awards

Tauen Chang Outstanding Junior Member Award

Ashley Mei Bach, MD, MPH

Children’s Hospital of Philadelphia, Philadelphia, PA

Eman Hamed, MD, PhD, MSc

Jersey Shore University Medical Center, Neptune, NJ

Austin Layton, DO, MSc University of California –San Diego, San Diego, CA

Tauen Chang Outstanding Junior Member Post Graduate Award

Stephen Chrzanowski MD, PhD

University of Massachusetts Chan Medical School, Worcester, MA

M. Richard Koenigsberger Scholarship

Whitney Fitts, MD

Children’s Hospital of Philadelphia, Philadelphia, PA

Seva G. Khambadkone, MD, PhD

Doernbecher Children’s Hospital, Oregon Health & Science University, Portland, OR

Saba Jafarpour, MD

Children’s Hospital of Los Angeles, Los Angeles, CA

AAP Section on Neurology Trainee Travel Award

Miles Fisher, DO

Division of Pediatric Neurology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN

Bhuwan Garg High School Student Neuroscience Prize

Allison Duh

Burlingame High School, Burlingame, CA

2024 Pediatric Epilepsy Research Child Neurology Society Grants

2024 Pediatric Epilepsy Research Foundation (PERF®) CNS Bridge Grant

Andra Dingman, MD

Department of Pediatrics (Child Neurology), University of Colorado School of Medicine/Children’s Hospital Colorado, Aurora, Colorado

Mentors

Wendy Macklin PhD, Bruce Appel PhD, Ethan Hughes PhD, Kevin Ess MD/PhD

Research Title

“Targeting Chronic Inflammation to Improve White Matter Plasticity After Neonatal Stroke”

Bio

Dr. Andra Dingman became interested in perinatal stroke as a research assistant in the Neonatal Brain Disorders Laboratory at UCSF under the mentorship of Drs. Donna Ferriero and Zena Vexler. She then completed medical school at Stanford University, where she completed an HHMI research fellowship studying the effect of maternal inflammation on fetal neurogenesis. She completed child neurology residency at University of Colorado, followed by a Bugher/AHA pediatric stroke research fellowship. Her research focused on differences in oligodendrocyte response to white matter ischemia in juvenile and adult mice. She then joined the Child Neurology K12

program, followed by AHA and Boettcher career development awards. Her current focus is chronic white matter plasticity after neonatal stroke. She is an Associate Professor of Child Neurology, whose clinical focus includes fetal neurology and follow-up of neonates with brain injury and congenital malformations. She also serves as associate program director for scholarly work for the Child Neurology Residency Program.

2024

Pediatric

Epilepsy

Research Foundation (PERF®) CNS Elterman Research Grant

Viola Caretti, MD, PhD UTHealth Houston, Houston, TX

Mentors

Louise McCullough, MD, PhD; Fudong Liu, MD, PhD, and Rodney Ritzel, PhD

Research Title

“Decoding Sex-Specific Neutrophil Function in Neonatal Hypoxic Ischemic Encephalopathy”

Bio

Dr. Viola Caretti, MD, PhD, is a child neurologist from Italy who has trained across Europe, the United States, and Latin America. Dr. Caretti’s research centers on perinatal brain injury and its enduring impact over the lifespan. Viola wants to understand and improve long-term

Foundation and

neurological health from the earliest stages of life.

During her PhD at UMC/Amsterdam under Dr. Wurdinger, Dr. Caretti worked on novel therapies for pediatric brain tumors. Her postdoctoral work at Stanford in Dr. Monje’s Lab focused on the microenvironmental determinants of neural precursor cell fate in pediatric gliomas. She then joined the BRAINS Lab at UTHealth Houston (UTH) under Dr. McCullough to study the neuroinflammatory response to neonatal brain injury and its lifelong neurological impact.

Dr. Caretti completed her Child Neurology residency at Baylor/Texas Children’s Hospital and her Pediatric training at Stanford, California. She is now an Assistant Professor at UTH, where she works as a clinician and neuroscientist.

2024 Pediatric Epilepsy Research Foundation (PERF®) CNS Shields Research Grant

Mauro Caffarelli, MD University of California, San Francisco, San Francisco, CA

Mentors

Christine K Fox, MD MAS (Primary); Edilberto Amorim, MD; Jeffrey Fineman, MD (Secondary)

Research Title

“Validation of a Quantitative Electroencephalography Index for Brain Injury Recognition and Prediction During Pediatric Extracorporeal Life Support” Bio

Dr. Mauro Caffarelli is an assistant professor at UCSF in Pediatric Critical Care Medicine and Child Neurology. As a clinician, he cares for children in the Intensive Care Unit (ICU) with a specialty focus on critically ill children with and at risk for neurological injuries. His research focus is screening critically ill children with heart disease who are at risk of suffering stroke while in the ICU. He is leveraging his background in neural electrophysiology from the Johnston Lab at the University of Texas at Austin to create new solutions for multimodal recognition of stroke in the ICU. As a member of the Amorim Lab, he developed the Correlate of Injury to the Nervous System (COIN) index, a novel Quantitative EEG index used for the bedside detection of stroke and cerebral ischemia. Under the mentorship of Christine K. Fox, MD MAS, he is working to validate COIN in critically ill children. •

Child Neurology Foundation

CNF Programs Benefit Child Neurologists

I entered the patient advocacy space decades ago when my daughter was medically devastated at birth. It was a child neurologist and Child Neurology Society member, Dr. Don Shields, whose compassion for my family got me involved in this work. Caring for the caregiver is crucial for child neurology patients to receive the care they deserve. Today, child neurologists face innumerable challenges in daily practice, including complex cases, limited resources, high demands, and emotional stress. These challenges can affect your well-being, satisfaction, and quality of care. That’s why the Child Neurology Foundation (CNF) is committed to providing resources to child neurologists and their patients in three key areas: Child and Family Support, Education, and Care Advancement. These programs

are designed to help meet patient needs beyond their medical care, making your job easier and helping you stave off burnout, and are aimed at ultimately improving the quality of care provided to your patients.

Child and Family Support

We hear from child neurologists in our community that building meaningful relationships with patients and their families is one of the most rewarding aspects of their practice. However, these relationships can be negatively impacted when patients have difficulty navigating the healthcare system, finding reliable information and resources, and coping with the emotional and social impacts of their conditions. That’s why CNF offers a range of programs that aim to empower

Stephen Peters President Child Neurology Foundation

and support child neurology patients and their families, such as:

• The Neurology Social Services Network(NSSN) connects patients and families with social determinants of health needs, referrals, advocacy, and psychosocial support.

• Caregiver support courses like “Surviving to Thriving: Building a Community to Support Mental WellBeing” address the difficulties and isolation that come with caring for a child with a neurologic condition. Our goal is to empower caregivers and boost their confidence in managing daily activities.

• The Disorder Directory offers comprehensive and updated information on over 200 neurologic conditions, including symptoms, diagnosis, treatment, and resources. These programs benefit not only patients and families but also you as child neurologists. By providing families with this support, we enhance trust, engagement, and satisfaction with the care these patients receive. You can also reduce the burden on your own time and resources by relying on CNF and its partners to address the non-medical needs of your patients and families.

Education

CNF offers a range of programs that aim to provide accessible and innovative education for child neurologists and their patients, such as:

• The Child Neurology Society (CNS) and American Epilepsy Society (AES) Symposia are annual events featuring expert speakers and panelists on timely and important topics like technology use, behavioral challenges, and quality improvement. This year’s CNS Symposium is from 8:00 - 11:00 am on Monday, November 11. You can learn more about the meeting here.

• The Continuing Medical Education (CME) courses are housed in CNF’s Online Learning Portal, and which provide free online courses for

clinicians on topics such as genetic testing, clinical trials, and transition of care.

With this education, you enhance your knowledge, skills, and confidence in your care. You also better engage your patients and families by sharing information and resources they need to manage their conditions.

Care Advancement

We know many gaps and barriers in the current system limit your ability to provide optimal and comprehensive care. That’s why CNF offers a range of grant opportunities and advocacy programs to promote and support care advancement for child neurologists and their patients, such as:

• The Care Advancement Grants are competitive grants that fund quality improvement projects in transition of care and care coordination.

• The Neurodevelopmental Disorder (NDD) Research Scholarship supports a child neurology resident or fellow researcher in conducting research on any neurodevelopmental disorder.

• The Swaiman Summer Research Scholarships support medical students’ summer research projects in child neurology and support their travel to attend the CNS Annual Meeting.

• Federal Advocacy efforts on issues such as Medicaid reform, access to clinical trials, neurology workforce advancement, and drug pricing.

Conclusion

I encourage you to explore these programs further and take advantage of them as often as possible. Please share your feedback and suggestions with CNF, as they are always looking for ways to improve and expand their work. Staff can be reached at programs@ childneurologyfoundation.org if you have any questions. I believe that by working together with CNF, we can meet patients where they are and improve the quality of care we provide to our child

2024 Neurodevelopmental Disabilities (NDD) Summer Research Scholarship

Lamia Zuberi

2nd Year Medical Student, Baylor College of Medicine, Texas Children’s Hospital

Mentor

Davut Pehlivan, MD

Research Title

“Delving into the Interplay of Genotype and Longitudinal Phenotype in MECP2 Duplication Syndrome through Deep Phenotyping and Comprehensive Genotyping”

Career Goals Statement

What makes the world of medicine so beautiful is that it is an art that is dynamically undergoing metamorphosis at the hands of its artists. This notion has been exemplified throughout history, but the most precious practice that has persisted through time is that the interest and wellbeing of patients should be the center of care. This is especially crucial when considering a pediatric population that is often unable to advocate for themselves. Through the realms of child neurology and neurodevelopmental disabilities, I aspire to wholeheartedly be a champion of children’s health and wellness as a physician, and it would be the greatest honor and privilege to be entrusted to do so. I would love to utilize the clinical prowess that I attain and work synergistically with other healthcare disciplines to make a long-lasting impact in the area of abusive head trauma (AHT). As a future physician and especially as a human being, I firmly believe that every child deserves to be nurtured and given the chance to be an artist painting their mark on this world. This is precisely

why it is my goal to help decrease the prevalence of abusive head trauma and its long-term neurodevelopmental effects through improving preventative measures, screening practices, and treatment options.

2024 Swaiman Medical Student Scholarship

Shanmitha Arun 3rd Year Medical Student, Virginia Commonwealth University

Mentor

Mathula Thangarajh, MD, PhD

Research Title

“Prefrontal Gamma aminobutyric acid (GABA) levels and working memory deficits in Duchenne Muscular Dystrophy (DMD)”

Career Goals Summary

In my career journey, I’m deeply passionate about the intersection of clinical practice and academic research. Academic medicine offers a unique opportunity to integrate these two realms, allowing me to not only provide high-quality patient care but also contribute to the advancement of medical knowledge and innovation through research. By pursuing an academic path alongside clinical practice, I envision contributing to the development of novel therapies, refining diagnostic techniques, and mentoring future generations of healthcare professionals. Through this dual approach, I seek to bridge the gap between research and clinical application, ultimately improving outcomes and enhancing the quality of life for children and families impacted by neuromuscular diseases. The award is a huge honor and fosters my sense of purpose and fuels my dedication to pediatric neurology research and clinical care.

2024 Swaiman Medical Student Scholarship

3rd Year Medical Student, Case Western Reserve University, School of Medicine; The University of Texas at Austin, Dell Medical School

Mentor

Audrey Brumback, MD, PhD

Research Title

“Unveiling the Neural Circuitry of Autism: Understanding the Role of Mediodorsal Thalamic Neurons in Social, Emotional, and Cognitive Behaviors”

Career Goals Summary

I am constantly inspired by children’s remarkable resilience in living with and overcoming illness. Specifically, the plasticity of the developing brain and its astounding response to therapeutics highlights the importance of research in the field of pediatric neurology. Despite groundbreaking advances like gene therapy, our understanding of the underlying pathophysiology (the foundation of treatment development) of childhood neurologic disorders remains incomplete. The incredible Dr. Audrey Brumback and her phenomenal research team at UT Health Austin are working on elucidating the neural circuitry underlying neurodevelopmental conditions like autism. I am so excited to join them in their mission over the summer to work towards creating a more neuroinclusive world. In terms of my career goals, I have to say that child neurologists are some of my favorite people in this world. They are not just localizers of pathology but also compassionate listeners, tireless advocates, and lifelong cheerleaders. I cannot wait to join the ranks as a future clinician,

educator, and researcher. Thank you to the Child Neurology Foundation for this invaluable opportunity and their support of young child neurology enthusiasts like me!

2024 Swaiman Medical Student Scholarship

Mentor

Darius Ebrahimi-Fakhari,

MD, PhD

Research Title

“A Retrospective Survey-Based Multicenter Study To Delineate The Molecular And Phenotypic Spectrum Of Epilepsy-Dyskinesia Syndromes In Children”

Career Goals Summary

Witnessing firsthand how clinical research can directly lead to the diagnosis and treatment of patients with rare genetic conditions has motivated me to delve deeper into the field of child neurology. Inspired by my experiences at Boston Children’s Hospital under the mentorship of Dr. Ebrahimi-Fakhari, I am eager to dedicate this summer to further exploring the molecular and phenotypic spectrum of epilepsy-dyskinesia syndromes in children.

As I near the completion of my second year at the University of Central Florida College of Medicine, I remain strongly committed to pursuing a career in academic medicine. I aim to leverage my engineering background to enhance diagnostic methods and treatment outcomes through innovative, precisionbased approaches. I am immensely grateful to my mentor, Dr. EbrahimiFakhari, for his continued guidance and to

the Child Neurology Foundation Kenneth F. Swaiman Scholarship for supporting my commitment to advancing patient care.

2024 Swaiman Medical Student Scholarship

Alyssa Rust

3rd Year Medical Student, Washington University School of Medicine

Mentor

Bhooma Aravamuthan, MD, DPhil

Research Title

“Creation of a Standardized Motor Exam Protocol for People with Cerebral Palsy”

Career Goals Summary

Early in my medical school education, I knew child neurology was the field for me. I enjoyed working with neurodiverse children and was inspired by the resiliency of pediatric patients. I was also excited by how rapidly scientific advancements were being made in the field of neurology and how these developments have improved the lives of countless patients. Over the past few years, I’ve had the pleasure of working with Dr. Bhooma Aravamuthan on research to address dystonia underdiagnosis and improve diagnostic equity for patients with cerebral palsy. As I enter my fourth year of medical school, I aspire to become a pediatric neurologist who continues to advance research in the field and advocate for my patients to receive the care they need to live their best lives. I also hope to be involved in medical education to inspire future physicians to pursue the rewarding and exciting field of child neurology. I am incredibly grateful to the Child Neurology Foundation and Dr. Aravamuthan for their generous support of my research this summer. •

Debolina Ghosh

Avaneesh Kunta 3rd Year Medical Student, University of Central Florida

Annual Conference Schedule

San Diego, California • Nov. 12-14, 2004

Tuesday November 12, 2024

8:00 am-8:15 am Welcome and Opening Remarks

8:15 am-10:15 am Keynote Lecture: Tying 3D Brain Anatomy to Assessment in the Pediatric Patient

10:15 am-10:30 am Q&A Discussion with Linda Littlejohns

10:30 am-10:45 am Break

10:45 am-11:45 am Neuroanatomy lecture

11:45 am-12:00 pm Q&A Discussion with Alexander Cohen

12:00 pm-1:00 pm LUNCH

1:00 pm-1:45 pm Case Presentation: A Pediatric Patient with Vertebral Arterial Dissection and Mechanical Thrombectomy

1:45 pm-2:45 pm Neurodevelopmental Screening Tools

2:45 pm-3:00 pm Break

3:00 pm-4:00 pm TBI Lecture: Updates on Return to Play and Return to School Guidelines

4:00 pm-4:15 pm Q&A and Discussion with TBI team

Linda Littlejohns, MSN, RN, SCRN, CNRN, FAAN

Alexander Cohen, MD, PhD

Hillary Horte, MS, FNP-C, SCRN, CPN

Jasper Estabillo, PhD

UCLA TBI Program

Wednesday November 13, 2024

8:00 am-9:00 am Awards and Business Meeting

9:00 am-9:45 am I Haven’t Got Tools for the Pain: Building a Better Toolbox for Youth with Chronic Migraine

9:45 am-10:30 am Guidance in diagnosing X-Linked Adrenoleukodystrophy through the Newborn Screen process

10:30 am-10:45 am Break

10:45 am-11:30 am Case series: Genetic Considerations in Two Young Boys with Hypotonia and Similar Gross Motor Delays

11:30 am-12:00 pm Clinical Pearls for APPs

Scott B. Turner, DNP

Oikeh Medina, APRN, FNP-C

Samantha Weaver, DNP, CRNP, CPNP-AC, CNRN

Moderator TBD

Wednesday November 13, 2024 CONTINUED

12:00 pm-1:00 pm LUNCH (SIG breakout sessions: headache, epilepsy, movements, tics, neuromuscular, developmental delay, RNs)

1:00 pm-1:45 pm KCNT1-Related Epilepsy: A Case Review Kathleen Griffin, PNP

1:45 pm-2:30 pm The incidence of neuropsychiatric side effects with common anti-seizure medications in children and adolescents: A retrospective chart review

2:30 pm-3:15 pm Poster Session

Case report: a novel, deep intronic insertion of approximately 306kb of chromosome 10 in the DMD gene as a cause of Duchenne muscular dystrophy

Increasing Nurse Confidence and Efficiency on a Pediatric Epilepsy Monitoring Unit (PEMU)

Optimizing Nursing Care for Infantile Spasms: Creation of Protocols for First-Line Treatments and Comprehensive Support

Emily Wignall, MSN, CRNP

Keri Ramsey, MS, CGC, RN

Victoria Miller MSN, RN, CPN, NPD-BC

Emilia Spaulding, BSN, RN, PHN, CNRN

Thursday November 14, 2024

8:00 am-8:45 am Utilizing Nurses in the Neurology Outpatient Setting

8:45 am-9:30 am Can’t We All A-GRI?: Building A Multidisciplinary Program to Treat GRI Disorders

9:30 am-9:45 am Break

9:45 am-10:30 am Onboarding New Novel Precision Therapeutics for Neuromuscular/Neurodegenerative Patients; The Role of the RN Clinical Coordinator Taylor Schwab, BSN, RN, CPN, AMB-BC

Karla Quezada, RN, BSN and Meggan Healy, BSN

Ryleigh VandenBroeke, RN, BSN, CPN, AMB-BC

10:30 am-11:00 am Clinical Pearls for RNs (clinic coordination, inpatient, outpatient) Moderator TBD

11:00 am Closing Remarks

Mona Jacobson, MSN, CPNP President Association of Child Neurology Nurses

2024 Association of Child Neurology Nurses Awards

The Association of Child Neurology Nurses (ACNN) presents this year’s awardees for the Claire Chee and Nurse Practitioner Excellence in Neuroscience Nursing awards. These awards are presented to those nurses who have rendered distinguished service within the profession of child neurology nursing. The recipient of each award demonstrates, through strength of character and competence, a commitment to the care of children and their families with neurological disorders. Peers acknowledge each awardee as one who renders qualities of compassion, resourcefulness, leadership, knowledge communication, and inspiration.

2024 Claire Chee Award

Keri is currently clinical co-director at the Center for Rare Childhood Disorders, Translational Genomic Research Institute (TGen) in Phoenix, Arizona. She has been with Translational Genomics in various roles since 2013 and was nominated by Dr. Narayanan Vinodh.

She received a Bachelor of Science in Biology from Carnegie Mellon University and a Bachelor of Science in Nursing from Arizona State University. Working with families with genetic conditions, she felt the need to expand her education and received a Master’s in Genetic Counseling from the University of Arizona, with a focus on Gene therapy for Rett syndrome.

Keri started her work with genetics as lead technologist at the Center for Genetic Medicine at Children’s National Medical Center. She then worked as a lead technologist in the neurogenomics division lab at Translational Genomic Research Institute until 2007. She left TGen to pursue her education as a nurse, working in the Neuro Intensive Care Unit

at Banner Good Samaritan Medical Center. She returned to TGen in 2013, initially as clinical research coordinator and then as clinical manager. She has been the clinical co-director since 2016, working closely with Dr. Vidodh.

Keri has served as the lead clinical research coordinator for the Lavender and Lilac Studies of Trofinetide for Rett syndrome. She collaborates with multiple international groups to identify and study the pathogenicity of novel gene mutations and disorders. She is also the lead analyst on a retrospective study of the practical application of whole exome and whole genome sequencing for carrier screening in couples.

Keri was described by Dr. Vinodh as the “keystone” of the team at the Center for Rare Childhood Disorders (C4RCD), being the first person that patients and families reach out to as they are searching for answers and forming collaborations with research groups from around the world. Keri brings together the clinical and laboratory research teams to move together in pursuit of an answer for the families enrolled in their studies. She is involved individually with families, linking them to support groups specific to the genetic disorder. She stays in constant contact with families enrolled in the research studies, ensuring that potential adverse effects are investigated and addressed. Known as a multidimensional person, Keri has taken on numerous responsibilities and roles at the center. Truly an ambassador for TGen, according to Dr. Vinodh.

Keri Ramsey, MS, CGC, RN

Keri is involved in educating undergraduates, research assistants, and post-doctoral fellows in clinical genomics, inspiring some to pursue careers in child neurology, genetics, genetic Counseling, and research in neuroscience or clinical genomics.

She has been involved in over 70 peer-reviewed publications, describing new genetic syndromes or summarizing genotype-phenotype relationships in novel neurogenetic syndromes. Keri is an expert in the use of genomic tools. With her knowledge, she can connect genomic and data analysis with published manuscripts to provide families with a diagnosis they may have been searching for many years. She is also involved in clinical trials for Tuberous Sclerosis Complex, has been involved in multiple clinical trials, and has mastered the steps needed to conduct a study successfully and properly.

“She is dedicated to our patients and their families – always ready to help them understand the nature of the genetic findings in their child, connecting them with the latest in research and pointing the way towards optimal management,” says Dr. Vinodh.

Keri has a real passion for helping the Rett syndrome community. Her thesis focused on caregiver perceptions of gene therapy for Rett syndrome, and she organized a local Rett syndrome family gathering in March of 2024.

Dr. Vidoh describes Keri as epitomizing the Claire Chee Award, being the “whole package.” She is committed to the care and welfare of the families caring for a child with an undiagnosed neurological disorder, providing her level of service with compassion, dedication, and knowledge.

Keri Ramsey demonstrates the qualities of compassion, leadership, resourcefulness, knowledge, communication, and inspiration, and she is worthy of this year’s Clair Chee Award for Excellence in Neuroscience Nursing.

2024 Nurse Practitioner Excellence Award

Deanna Duggan is currently a pediatric nurse practitioner at Texas Children’s Hospital Blue Bird Circle Clinic for Pediatric Neurology and an assistant professor in the Baylor College of Medicine Department of Pediatrics –Neurology. She was nominated by Dr. Yen Tran.

Deanna received her Bachelor of Science in Nursing from McNeese State University. She completed her Master of Science at Wright State University and her Doctor of Nursing Practice at Texas Woman’s University. Her doctoral scholarly project was “Quality of Life Outcomes in Adolescents with Chronic Migraines: Experiencing Using OnabotulinumtoxinA Injections in the Context of a Multidisciplinary Approach.” Deanna started her nursing career in the intensive care unit at Trinity Lutheran Hospital in Kansas City, MO. She then moved to Children’s Mercy Hospital on the infant/toddler unit. After receiving her PNP, she worked in a private practice, then in the Diagnostic Imaging/Radiology Department before transferring to Neurology – Blue Bird Circle Clinic, where she has been since 2006. Deanna was initially an epilepsy provider and then transitioned to her current role in general neurology and headache clinic. She has also served on the inpatient consult service at Texas Children’s Hospital West Campus and The Woodlands. She is certified as a pediatric nurse practitioner – primary care and a CONTINUED on page 56

Deanna Duggan, DNP, APRN, CPNP-PC, PMHS, AQH

2024 Association of Child Neurology Nurses Awards

CONTINUED from page 55

pediatric mental health specialist, and she has a Certificate of Added Qualification in Headache Medicine.

Deanna received the Ambulatory Practitioner Award for Excellence in Patient Experience from Texas Children’s Hospital and was the Innovative Practice Award winner from the Association of Child Neurology Nurses in 2014. She is a Member of Sigma Theta Tau, Beta Beta Chapter, a nursing honorary society.

Deanna demonstrates the quality of compassion in her interactions with patients, families, and colleagues. Going above and beyond, she commits extensive time to educating families on holistic headache management, ensuring they feel supported and empowered in their journey to wellness. She prioritizes patients’ needs, no matter the hour or circumstance. She volunteers to personally attend to complex headache patients in the inpatient setting, seamlessly integrating their care into her already busy clinic schedule. She accommodates urgent referrals with grace and empathy, which underscores her unwavering commitment to patient wellbeing.

Deanna demonstrated her commitment to being resourceful by co-leading the establishment of the Functional Neurological Disorder (FND) Clinic at Texas Children’s Hospital in the Woodlands. She recognized an unmet need for these children and partnered with Dr. Karmarkar to create a clinic where they could receive specialized care tailored to their unique needs.

She was recently designated as the advanced practice provider (APP) lead for the Division of Neurology. Deanna is committed to mentorship and creating a curriculum to support the professional growth and development in the field of neurology of newly hired physician assistants and nurse practitioners for the division of neurology. Dr. Tran noted, “She

has been instrumental in shaping the next generation of healthcare providers for our institution.”

Deanna is an expert in the care of patients with headaches. She has a Certificate of Added Qualification in Headache Medicine. She is committed to imparting knowledge about headache on a local, state, national, and international level. She was integral in the establishment of the hospital’s inaugural headache clinic.

As someone who can adeptly explain complex headaches to patients, Deanna breaks down intricate medical information into easily understandable terms while outlining clear treatment plans tailored to everyone’s needs. Deanna collaborates with other healthcare providers across various disciplines. Dr. Tran noted that “she is committed to effective communication that fosters trust, promotes collaboration, and ultimately improves patient outcomes. “Deanna fosters a sense of unity within the neurology clinic, where she leads by example. She is generous and thoughtful, which helps bring the team closer together and fosters a positive work culture. She spearheads the quality improvement initiatives, further enhancing the clinic’s capabilities and efficiency in addressing the diverse needs of our patient population.

Dr. Tran describes her as having an unwavering commitment to fostering positive change, extending beyond herself to benefit her patients and their families, trainees, colleagues, our institution, and the broader field of child neurology. “Deanna Duggan epitomizes the essence of this award’s core values and exceeds expectations in every aspect. Deanna’s outstanding dedication, leadership, compassion, expertise, and commitment to fostering unity deserve recognition.”

The Association of Child Neurology Nursing is proud to award Deanna Duggan the Nurse Practitioner Excellence Award in Neuroscience Nursing. •

CNS Connections

Maximizing the Diagnostic Yield of Exome Sequencing Through Reanalysis

BY CATHERINE SCHULTZ, MS, CGC BOARD-CERTIFIED GENETIC COUNSELOR AND MEDICAL SCIENCE LIAISON AMBRY GENETICS

Exome sequencing (ES) – the comprehensive analysis of the coding regions of all 20,000 genes – is recommended in the diagnostic evaluation of children with multiple congenital anomalies, global developmental delay, intellectual disability, unexplained epilepsy, and autism spectrum disorders.1-3

Depending on the indication for testing, the diagnostic yield for ES is 25-35% as a first-line test, which leaves about 2 of 3 patients tested with negative or uninformative results after initial testing.4-7 While the patient’s DNA will not change over time, our understanding of genetics can and does. This raises the question: what if the potential diagnosis is missed the first time around? Is there a case to revisit the data and conduct a reanalysis?

The answer is a resounding yes. There are two primary drivers for exome reanalysis that can result in updates to patient results: 1. Advances in our understanding of gene-disease relationships and variant classification.

• Of the approximately 20,000 genes in the human genome, the association with genetic disease is understood for only about a quarter of them.8 New gene-disease discovery continues at a strong rate: every year, about 100 new gene-disease associations are made

and published in the literature.9,10

• Evolution is also natural in our understanding at the variant level –which types of variants cause disease and how – and changes to variant classification can also drive changes to ES results.

• These updates do not require additional input from the healthcare provider. They can be managed as laboratory-initiated, cohort-level reanalysis.

2. Changes to the patient’s clinical features or family history that could impact analysis of ES data.

• Interpretation of ES data is informed by the patient’s phenotype and the family history. When significant new clinical features emerge, reanalysis can be helpful to evaluate the genetic findings in the full context of the patient’s phenotype. Similarly, the addition of another family member with similar features can inform the inheritance pattern, and that can, in turn, impact interpretation of results.

• These updates do require input from the healthcare provider. They must be managed as clinician-initiated, patient-level reanalysis. The difference between these approaches is captured in Table 1.

Clinician-Initiated Patient-Level Reanalysis Laboratory-Initiated Cohort-Level Reanalysis

Traditional approach

Ad hoc; lacks systematic reevaluation of all patients7

Most useful when there are updates to clinical phenotype and/or family history

Table 1. Description of reanalysis approaches.

Proactive approach

Triggered by updates to gene-disease classifications and/or variant classifications

Systematically reviews all previously undiagnosed cases

Ambry Genetics is a clinical diagnostic laboratory that has been performing ES since 2011. Our reanalysis services include both approaches described in Table 1. The laboratory-initiated, cohort level reanalysis is called Patient for Life™. We also accept patient-specific reanalysis requests from healthcare providers when new clinical information becomes available.

Evaluation of our laboratory’s experience demonstrates that, of the drivers above, advances in our understanding of gene-disease relationships is the most important, accounting for over two-thirds of ES reclassifications (Figure 2). This is followed by variant reclassification, with only a small fraction attributable to provider-initiated requests.

Overall, laboratory-initiated reanalysis through Patient for Life has increased the diagnostic yield of ES over time by 5%.10 In other words, 1 in 20 patients tested who initially had negative or uninformative results are provided new answers through this process. This laboratoryinitiated approach has provided more clinically relevant reclassifications than the traditional clinician-initiated approach.

More recently, another advantage of laboratory-initiated reanalysis has emerged related to healthcare equity. Disparities have been observed among patients of different race, ethnicity, and ancestry (REA) groups in terms of their likelihood to receive clinician-initiated reanalysis and eventual reclassification rates.

For example, early data published last year demonstrated that patients identifying as African American/Black are among the least likely to receive clinician-initiated reanalysis despite over half receiving reclassifications when reanalysis is initiated.11 By systematically screening all previous cases, The Patient for Life program ensures equitable access to updated ES analysis for all patients, irrespective of their racial or ethnic background.

Pediatric neurologists who are ordering ES in their evaluation of children with undiagnosed rare disease and neurodevelopmental disorders should be aware of their selected laboratory’s practices for reanalysis, which can vary. Prioritizing laboratoryinitiated reanalysis can ensure that more patients receive answers over time as our understanding of genetics and disease evolves and can also provide more equitable access to those new discoveries.

References

1. Manickam K et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-37. doi: 10.1038/s41436-021-01242

2. Smith L et al. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2022 Oct 24. doi. org/10.1002/jgc4.1646

3. Srivastava S et al. Meta-analysis and multidisciplinary consensus statement: Exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental

disorders. Genet Med. 2019 Nov;21(11):2413-21; https://doi. org/10.1038/s41436- 019-0554-6

4. Srivastava S, Cohen JS, Vernon H, et al. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014;76(4):473-483. doi:10.1002/ ana.24251

5. Farwell KD, Shahmirzadi L, El-Khechen D, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015;17(7):578-586. doi:10.1038/gim.2014.154

6. Retterer K, Juusola J, Cho MT, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016;18(7):696-704. doi:10.1038/ gim.2015.148

7. Srivastava S, Love-Nichols JA, Dies KA, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders [published correction appears in Genet Med. 2020 Oct;22(10):17311732. doi: 10.1038/s41436020-0913-3]. Genet Med. 2019;21(11):2413-2421. doi:10.1038/s41436-019-0554-6

8. Gene Map Statistics- OMIM. www. omim.org. Accessed June 4, 2024. https://www.omim.org/statistics/ geneMap

9. Pace of Gene Discovery GraphOMIM. www.omim.org. Accessed June 4, 2024. https://www.omim. org/statistics/paceGraph.

10. Ambry Genetics internal data.

11. Giles A et al. Addressing equity in exome sequencing: Proactive reanalysis helps to reduce racial, ethnic and ancestral disparities. Platform presented at: National Society of Genetic Counselors conference; October 2023; Chicago, IL, USA. •

Figure 2. Over two-thirds of reclassifications are the result of advances in gene-disease validity.6

Demonstrating the Value of Clinical Genome Sequencing in a Pediatric Neurology Cohort

BY HOLLY L. SNYDER, MS, LGC, ASSOCIATE DIRECTOR, GLOBAL MEDICAL AFFAIRS, ILLUMINA

Traditional genetic testing in neurological disorders follows an iterative testing pathway where multiple, stepwise tests are used based on test availability, provider familiarity and, reimbursement, often leading to a diagnostic odyssey lasting an average of 4.7 years.6 Clinical genome sequencing (GS) is a promising, more comprehensive alternative to traditional testing (such as chromosomal microarray or multigene panel testing) because it can shorten the time to a diagnosis.7-13

Existing evidence

Recent publications have demonstrated a 25-59% diagnostic yield with GS in pediatric and adult cohorts with neurological phenotypes.10,14-19 A molecular diagnosis in patients with neurodevelopmental disorders has clinical, economic, and personal utility, possibly leading to changes in treatment, access to research opportunities, and avoidance of unnecessary testing. Additionally, patients and families may use their diagnosis to connect with others living with the same rare disease or make family planning decisions. Societal guidance is shifting genetic testing recommendations for certain neurological indications towards more comprehensive sequencing methods. In 2020, the American College of Medical Genetics and Genomics (ACMG) published an evidence-based guideline affirming that exome/genome sequencing (ES/GS) should be strongly considered as first- or secondtier testing in patients with intellectual disability/developmental delay prior to age 18 or one or more congenital anomalies prior to one year of age. 20 In 2022, the National Society of Genetic Counselors in support of the American Epilepsy Society

published a practice guideline strongly recommending ES/GS and/or multigene panel testing for all patients with unexplained epilepsy.21

Despite advances in evidence and societal guidelines, barriers to implementing GS more broadly remain. In addition to limited insurance coverage and access, provider knowledge and comfort with more complex genomic tests have likely precluded its use.

Collaborating to drive awareness

Illumina sought out an opportunity to improve provider awareness and comfort with GS through real-world case experiences. Partnering with an advocacy group, they developed a project to make GS available to a small cohort of child neurology patients with suspected rare disease. An expert panel of neurologists developed inclusion criteria for case submission and selected 25 cases out of 104 submissions with various neurological indications from five geographically diverse sites in the U.S.

Genome sequencing provides answers

Through GS, 6 out of 25 children received a new diagnosis. All six had previously undergone at least one genetic test, including four that had exome sequencing (ES), none of which provided answers. Clarity around recurrence risk and positive impacts on the patients and their families were reported by the clinical teams for several patients. In one instance, a child who had been on a nearly 15-year diagnostic odyssey with a severe, complex phenotype received a diagnosis of a rare, de novo genetic disease. Before enrolling in this project, they underwent multiple uninformative tests, including multigene

panel testing and ES. This diagnosis had clinical impacts by limiting the need for recurrent brain MRIs and initiating both nerve conduction studies and thyroid screening. The family received an end to their “diagnostic odyssey,” an important, often understated, psychosocial benefit.

Clinician perspectives

Interviews with providers revealed positive feedback on the experience and perceived value of GS. One provider imagined, “What if 20% of the most challenging pediatric neurology cases could find a diagnosis?” in reference to GS. Another discussed how results can change care in meaningful ways by “giving them an opportunity to connect with other families and engage in research efforts.”

This project was presented at the ACMG Annual Meeting in 2022.22 Implementation of comprehensive sequencing is more than ending an odyssey; it enables earlier diagnosis that can open doors to emerging therapies. GS can be overwhelming to patients and providers alike. Continued education about the value of GS and its appropriate use is key to improving outcomes for families with rare disease.

References

1. Wakap, S, Lambert DM, Orly A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Europ J Hum Genet.2019: 28;165-173. https://doi.org/10.1038/s41431019-0508-0.

2. Ferreira CR. The burden of rare diseases. American Journal of Medical Genetics. 2019;179(6):885-892.

3. Walker et al. The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genet Med. 2017;19(5):546-552.

4. Eurodis Rare Diseases Europe. About rare diseases. https://www.

eurordis.org/content/what-raredisease. Updated June 14, 2019. Accessed March 27, 2020.

5. Bick D, Jones M, Taylor SL, Taft RJ, Belmont J. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet. 2019 Dec;56(12):783-791. doi: 10.1136/ jmedgenet-2019-106111. Epub 2019 Apr 25. PMID: 31023718; PMCID: PMC6929710.

6. Faye et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur J Hum Genet. 2024; https://doi. org/10.1038/s41431-024-01604-z

7. Lionel AC, Costain G, Monfared N, et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2017; Aug 3. doi: 10.1038/ gim.2017.119.

8. Dolzhenko E, van Vugt JJ, Shaw RJ, Bekritsky, et al. Detection of long repeat expansions from PCR-free whole-genome sequence data. Genome Res. 2017; 27(11): 18951903. doi: 10.1101/gr.225672.117

9. Gross A, Ajay SS, Rajan V, et al. Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease. Genetic Med. 2019;21(5):1121-1130.

10. Lindstrand A, Eisfeldt J, Pettersson M, et al. From cytogenetics to cytogenomics: whole genomes sequencing as a first-line test comprehensively captures the diverse spectrum of diseasecausing genetic variation underlying intellectual disability. Genome Med. 2019;11(1):68

11. Chen X, Sanchis-Juan A, French CE, et al. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med. 2020; 22(5):945-953. https://doi.org/10.1038/s41436020-0754-0.

12. Chen X, Schulz-Trieglaff O, Shaw R, et al. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications. Bioinformatics, 2016;32(8):1220–1222. http:// doi.org/10.1093/bioinformatics/ btv710.

13. Ibanez K, Polke J, Hagelstrom T, et al. Whole genome sequencing for diagnosis of neurologic repeat expansion disorders. bioRxiv 2020.11.06.371716;doi: https://doi. org/10.1101/2020.11.06.371716.

14. Lindstrand A, Ek M, Kvarnung M, et al. Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. Genet Med. 2022;24:2296-2307.

15. Palmer EE, Sachdev R, Macintosh R, et al. Diagnostic yield of whole genome sequencing after nondiagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies. Neurol. 2020;96(13):e1770-e1782.

16. Bowling KM, Thompson ML, Amaral MD, et al. Genomic diagnosis for children with intellectual disability and/or developmental delay. Genome Med. 2017;9(1):43. Published 2017 May 30. doi:10.1186/s13073-0170433-1

17. Lee HF, Chi CS, Tsai CR. Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders. Dev Med Child Neurol. 2021 Aug;63(8):934-938. doi: 10.1111/ dmcn.14722. Epub 2020 Nov 26. PMID: 33244750.

18. Vanderver A, Bernard G, Helman G, et al. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. 2020 Aug;88(2):264273. doi: 10.1002/ana.25757. Epub 2020 Jun 9. PMID: 32342562; PMCID: PMC8061316 •

Addressing the Treatment Gap for Adolescents with Migraine

BY MARIELLE KABBOUCHE SAMAHA, MD, FAAN, FAHS, PROFESSOR OF CHILD NEUROLOGY AND HEADACHE MEDICINE, DIRECTOR HEADACHE CENTER, CINCINNATI CHILDREN’S HOSPITAL, CONSULTANT TO THERANICA

Early Intervention and Safe Treatment in Adolescent Migraine Management

Migraine disease is a complex and non-curable disease affecting 100 million children globally1, with profound negative impacts on their daily lives and future prospects. It can lead to school absenteeism, prevent active participation in peer activities, and carry long-term socioeconomic consequences. Research indicates migraine can affect all aspects of a child’s functioning, leading to anxiety, depression, and increased psychosocial problems, such as school absences and problematic social interactions.2 In fact, the negative impact on the quality of life for adolescents with migraine is comparable to that experienced by individuals with cancer.3

Early diagnosis and safe intervention are crucial in mitigating these negative impacts, improving the outcome and preventing long-term disability.

The Importance of Early Diagnosis and Treatment

Early and appropriate treatment of migraine in adolescents is vital to prevent them from becoming adults with uncontrolled migraine, living with longterm disability and negative socioeconomic consequences. Data suggests that treating migraine early in the course of the disease, aggressively and comprehensively, will result in fewer headaches and a decrease in headache-related disability.4 This early intervention at a young age will

lead to improvements in school attendance, academic performance, social interactions, and employment and ultimately will prevent the transformation of episodic to chronic migraine.5

Challenges in the Current Treatment Landscape

Despite the clear benefits of early intervention, there is a significant treatment gap for adolescents with migraine. Many prescription medications currently used were not originally developed or evaluated for this age group and fail to meet the unique needs of this patient population. The new generation migraine medications approved for adults will take decades to reach the adolescent migraineurs who are left with prescriptions that are not specific for their disease. In addition, prescription medications often come with poor tolerability and disruptive side effects, requiring adult supervision and strict compliance to minimize adverse reactions. This can hinder timely intervention and adherence to treatment plans, exacerbating the condition and its negative impact on adolescents’ lives.

The Need to Rethink First-Line Interventions with REN

There is a pressing need to rethink first-line interventions for adolescents with migraine. Clinicians must be empowered to prescribe treatment plans that offer early, effective, and easy interventions that fit within the constraints of adolescents’ lifestyles. One promising solution is the use of remote electrical neuromodulation (REN), which has shown significant efficacy and safety in this specific age population.

The REN wearable, specifically Nerivio®, has been studied extensively and demonstrated favorable safety and efficacy profiles in adolescents. This non-drug, non-disruptive treatment is FDA-cleared for both acute and prevention treatment of migraine with

or without aura in individuals aged 12 and older.

The REN wearable is worn on the upper arm and uses non-painful stimulation to harness the natural power of the brain’s conditioned pain management (CPM) mechanism to safely treat migraine pain and related symptoms – without disruption of daily life and without the use of prescription drugs.

The REN wearable can be used both as a preventive measure and for acute treatment, providing a foundation for comprehensive migraine care, helping adolescents manage their condition as they transition into adulthood.

It is discrete and small enough to carry in a backpack, allowing adolescents to participate in school and social activities without disruption. The adolescent can use the REN wearable in the classroom and avoid having to leave the classroom and go to the school nurse to treat their migraine. By incorporating the REN wearable into the PedMAP (Pediatric Migraine Action Plan), clinicians can provide a safe, effective, and well-tolerated treatment option that aligns with the unique needs of adolescent patients.

Changing the Trajectory of Adolescent Migraine

Addressing migraine disease in adolescence is an opportunity to positively impact the lives of millions and potentially alter their long-term health outcomes. By rethinking first-line interventions and integrating targeted, appropriate therapies like the REN wearable into treatment plans, we can reduce immediate suffering, lessen the risk of chronification, and improve overall disability. Together, we can change the trajectory of migraine in the adolescent population, helping them lead fulfilling lives without the burden of uncontrolled migraine disease and its associated disabilities.

Resources

1. https://www.ncbi.nlm.nih.gov/pmc/ articles/PMC2526375/

2. https://www.ncbi.nlm.nih.gov/pmc/ articles/PMC2526375/

3. https://pubmed.ncbi.nlm.nih. gov/12837897/

4. https://thejournalofheadacheand pain.biomedcentral.com/ articles/10.1007/s10194-009-0133-3

5. https://thejournalofheadacheand pain.biomedcentral.com/ articles/10.1007/s10194-009-0133-3

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