Abstracts

Global Needs of Children and Families Living with scn1a-positive Dravet Syndrome: Gaps in Access to Diagnosis and Care

Abstract number : 1.32
Submission category : 4. Clinical Epilepsy / 4B. Clinical Diagnosis
Year : 2024
Submission ID : 1019
Source : www.aesnet.org
Presentation date : 12/7/2024 12:00:00 AM
Published date :

Authors :
Author: Clara Juandó-Prats, BScN, MSc, PhD – St. Michael’s Hospital and University of Toronto

Kathryn Hodwitz, MSc – St. Michael’s Hospital
M. Scott Perry, MD – Jane and John Justin Institute for Mind Health, Neurosciences Center, Cook Children's Medical Center
Ingrid Scheffer, MBBS, PhD, FRACP, FRS – University of Melbourne, Austin Hospital and Royal Children's Hospital, Florey and Murdoch Children’s Research Institutes
Susana Boronat, MD – Hospital Sant Pau, Barcelona, Spain
Joseph Sullivan, MD – University of California San Francisco Weill Institute for Neurosciences
Andreas Brunklaus, MD – Royal Hospital for Children
Eric Segal, MD – Hackensack University Medical Center, Hackensack Meridian School of Health, and Northeast Regional Epilepsy Group
Linda Laux, MD – Ann and Robert H Lurie Children’s Hospital of Chicago, Chicago, IL, USA
James Wheless, BScPharm, MD, FAAP, FACP, FAAN, FAES – LeBonheur Children’s Hospital
Deborah L. Holder, MD – Cedars-Sinai Guerin Children's
Steven Phillips, MD – MultiCare Health System
Anup Patel, MD, FAAN, FAES – Nationwide Children's Hospital, The Ohio State University
Presenting Author: Emma James, PhD, MFPM (Hon) – Encoded Therapeutics

Maria Candida Vila, PharmD, PhD – Encoded Therapeutics
Jacqueline S. Gofshteyn, MD – Encoded Therapeutics
Salvador Rico, MD, PhD – Encoded Therapeutics

Rationale: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy profoundly affecting children and families from a young age. The impact of DS on the lives of children, caregivers and siblings remains understudied, particularly with respect to diagnostic delays and gaps in access to care. Through qualitative inquiry within the ENVISION natural history study, we examined the experiences of those living with DS to understand barriers to timely diagnosis, treatment, and care within a global context.


Methods: ENVISION was a prospective, observational study of children with SCN1A+ DS aged 6 months to 5 years from 16 sites. Utilizing qualitative inquiry, a critical interpretive narrative approach and inductive observational design, participants in ENVISION were engaged through semi-structured narrative interviews. Sampling combined convenience and purposive strategies to ensure a diverse range of geographical locations and social profiles. Data analysis was performed using a reflexive thematic and narrative process.


Results: 58 participants were enrolled in ENVISION, 31 interviews were conducted—28 caregivers and 3 children—from USA, UK, Spain, and Australia. Analysis of families' journeys highlighted key factors that influence access to diagnosis and care: a) knowledge and familiarity with DS among family physicians and emergency room teams: There is a notable gap in clinicians' awareness about the disease, which affects the timely and accurate diagnosis of DS. b) structure of the healthcare system and availability to healthcare support services: Families often face barriers to timely and affordable access to treatments and research, influenced by the type of health coverage and the healthcare system's structure. c) advocacy practices and capabilities of the caregivers: The degree with which caregiver voiced their needs and concerns correlated with level of attention/care from healthcare professionals. However, there is an absence of supports for families (e.g. informational resources, therapies, respite care). This lack makes caregivers heavily reliant on their own advocacy capabilities to navigate care and treatment access. d) degree to which parents' observations and experiences were validated by healthcare professionals: Many parents encounter challenges in having their initial concerns acknowledged, which underscores a significant gap in the acceptance of parental observations by some healthcare professionals.


Conclusions: Experiences from participants in ENVISION emphasize that to improve the quality of life for children and families living with DS, it is crucial to improve access to timely and affordable diagnosis and optimal care. Addressing these gaps are expected to not only improve the physical health outcomes of the children but also the well-being of caregivers and siblings. Key strategies include raising DS awareness among clinicians, integrating treatment preferences into research and guidelines, and creating supportive tools to aid caregiver advocacy and reduce their emotional and physical burden.


Funding: Encoded Therapeutics

Clinical Epilepsy