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Diagnosis & Treatment

First Global Consensus for the Diagnosis and Treatment of SCN8A-Related Disorders

AES 2023 Poster Presentation

Empowering SCN8A Care: A New Era of Treatment

The First Global Consensus for the Diagnosis and Treatment of SCN8A-Related Disorders marks a pivotal moment in SCN8A related healthcare. This milestone represents a beacon of hope, promising a brighter future and improved quality of life for those affected by this rare neurological condition.

In collaboration with leading pediatric neurologists and the SCN8A community, we are pioneering innovative, tailored treatments. Our united efforts emphasize the strength of collaborative wisdom, integrating cutting-edge research and vital insights from families living with SCN8A.

As we implement these new guidelines, our commitment to enhancing wellbeing and unlocking the potential of every individual with SCN8A remains unwavering. Join us in this inspiring journey towards transformative care, marked by innovation, unity, and resilience. Together, we are shaping a better future for SCN8A care.

The SCN8A Diagnosis & Treatment Core Panel hard at work!

In November 2021, we held the first meeting of the core panel of leading clinicians and families representing a diverse range of exerts from across 5 continents. With their expertise and drawing from all available data, they are working to develop draft consensus diagnosis & treatment which will then be evaluated by an even larger panel of experts and families to build global consensus to diagnose and treat those with SCN8A. Since then, we have worked tirelessly with our partners to bring to bear the latest findings to build the First Global Consensus for the Diagnosis and Treatment of SCN8A-Related Disorders.

The Process

Using a scientific methodology, called modified-Delphi, we set out to develop consensus for diagnosis/management of SCN8A-related disorders. To do this, we recruited a Core Panel (13 clinicians, 1 researcher, 6 caregivers) to work collaboratively to build the basis for the consensus process. The core panel was divided into three subgroups—diagnosis/phenotypes, treatment and comorbidities/prognosis)—who then performed a comprehensive literature review, and developed questions for the first round of the modified-Delphi consensus. A larger group of global experts, including 28 clinicians, 1 researcher, and 13 caregivers from 16 countries participated in the subsequent 3 survey rounds, which each refine what we agreed was possible to conclude about SCN8A (see Methods graphic below). We defined consensus as follows: strong consensus, ≥80% fully agree; moderate consensus, ≥80% fully/partially agree, <10% disagree; and modest consensus, 67-79% fully/partially agree, <10% disagree.

Authors of this work include:

Gabrielle Conecker1,18, Maya Y Xia1,2,18, JayEtta Hecker1,18, Christelle Achkar3, Cristine Cukiert4, Seth Devries5, Elizabeth Donner6, Mark Fitzgerald7, Elena Gardella8, Michael Hammer1,9, Anaita Hegde10, Chunhui Hu11, Mitsuhiro Kato12, Tian Luo11, John M. Schreiber13, Yi Wang11, Tammy Kooistra14, Madeleine Oudin1,14,15, Kayla Waldrop14,
J. Tyler Youngquist14, Dennis Zhang14, Elaine Wirrell16, M. Scott Perry17


Affiliations:

1 International SCN8A Alliance, Washington, DC, USA.

2 COMBINEDBrain, Brentwood, TN, USA.

3 Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children’s Hospital, Boston, MA, USA.

4 Department of Neurology and Neurosurgery, Cukiert Clinic, São Paulo, São Paulo, Brazil.

5 Pediatric Neurology, Helen DeVos Children’s Hospital, Grand Rapids, Michigan 49503, USA.

6 Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

7 Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA.

8 Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.

9 Department of Neurology and Bio5 Institute, University of Arizona, Tucson, Arizona.

10 Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India.

11 Department of Neurology, Children’s Hospital of Fudan University, Shanghai, 201102 China.

12 Department of Pediatrics, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan.

13 Department of Neurology, Children’s National Hospital, Washington, DC.

14 International SCN8A Alliance Caregiver Representative

15 Department of Biomedical Engineering, Tufts University, Medford, MA 

16 Divisions of Child and Adolescent Neurology and Epilepsy, Mayo Clinic, Rochester, Minnesota

17 Jane and John Justin Institute for Mind Health, Neurosciences Center, Cook Children’s Medical Center, Ft Worth, Texas.

18 Denotes equal contribution


Leading this process are

Dr. Scott Perry, Co-chair of the Consensus Diagnosis & Treatment for SCN8A project. A prominent SCN8A clinician and Neurosciences Medical Director at Cook Children’s in Fort Worth Texas.

Gabi Conecker, MPH – Executive Director and Co-founder of the International SCN8A Alliance and mother to Elliott, a 10 yo with a severe form of SCN8A, is Co-chair the Consensus Diagnosis & Treatment for SCN8A project.

Dr. Elaine Wirrell, Director of Pediatric Epilepsy at the Mayo Clinic in Minnesota. She’s an expert with procedural direction and support, and importantly brings expertise in applying the modified Delphi process, which were foundational for the development of Consensus Diagnosis & Treatment for SCN8A. 

JayEtta Hecker, Co-Founder of the International SCN8A Alliance, is serving as the process guide for the Consensus Diagnosis & Treatment for SCN8A Project .

Board Chair and Co-founder JayEtta Hecker

Maya Xia is part of the Consensus Diagnosis & Treatment for SCN8A Project analysis team. She graduated from Vanderbilt University in May 2021 with a bachelor’s degree in Neuroscience. As a student at Vanderbilt, she took a course on Neurodevelopmental Disorders taught by Dr. Terry Jo Bichell, which inspired her to begin working with COMBINEDBrain and the International SCN8A Alliance to connect her basic science background with the lived experiences and needs of patients. Alongside this work, she is also doing full-time research at the NIH on mechanisms underlying PTSD. Next fall, she will begin her studies at an MD/PhD program.

Thank you to our partners at SCN8A Italia, SCN8A Nederland & SCN8A UK & Ireland for supporting the work of the Consensus Diagnosis and Treatment for SCN8A!

Together, we are working to assure our children receive the best care as soon as possible!

For a detailed discussion of the process and outcome of efforts to develop a standard of care for the Dravet Syndrome, see this article

We will keep the community informed as the work progresses – and as opportunities arise for specific input and/or questions.