Authors :
Megan Votoupal, BS – Ann & Robert H. Lurie Children's Hospital of Chicago
Anup Patel, MD – Nationwide Children's
Marc Rosenman, MD – Lurie Children's Hospital
Rya Muller, BS – Northwestern University Feinberg School of Medicine
Mary Wojnaroski, PhD – Nationwide Children’s Hospital/Ohio State University
Nicole Villalba, BS – Lurie Children's
Maura Carroll, BS – Lurie Children's Hospital
Tracy Dixon-Salazar, PhD – LGS Foundation
Presenting Author: Sandi Lam, MD, MBA – Ann & Robert H. Lurie Children's Hospital of Chicago
Rationale:
Lennox-Gastaut Syndrome (LGS) is a rare, developmental and epileptic encephalopathy diagnosed in 3-5% of children with epilepsy. LGS manifests a wide range of symptoms including intractable epilepsy with multiple seizure types, cognitive impairments, and electroencephalogram abnormalities. LGS can evolve over a patient’s lifetime; there is no known cure. Families of these patients face unique challenges in obtaining a diagnosis. Given the multiple elements and considerations for the diagnosis of LGS, we sought to characterize the experience of LGS families during clinical evaluation and diagnosis.Methods:
A survey was developed to investigate details surrounding the LGS diagnosis. The survey was available to families attending the LGS Foundation 9th International Family & Professional Conference July 12th–14th, 2024. The survey was also disseminated on the LGS Foundation’s private Facebook page during the period of August 1st–31st, 2024. Results:
A total of forty-three responses were collected. Most caregivers learned about their loved one's diagnosis from their epileptologist (44%) or neurologist (42%). Additional sources of the diagnosis included other medical providers, their loved one’s medical record, or a friend/acquaintance/peer. The time between suspected diagnosis and formal diagnosis varied in this population: within a month (7%, n=3), one month to one year (19%, n=8), one year to 5 years (30%, n=13), more than five years (28%, n=12). At the time of formal diagnosis, 51% of caregivers (n=22) did not receive any additional information about the LGS diagnosis, whereas 28% (n=12) did receive additional information from their provider. Caregivers identified three areas of concern: 1) the need for comprehensive LGS-related information to be provided to families at diagnosis; 2) the need for caregivers to independently learn about LGS; 3) caregivers felt providers had limited knowledge about the diagnosis.
Conclusions:
The clinical complexities of LGS, relatively few physicians treating rare diseases, and lack of effective caregiver resources hinder timely diagnosis and effective treatment. Gaining insight into the diagnostic journey from the caregiver's perspective is essential for informing and optimizing clinical practices and for improving the delivery of patient-centered care by medical providers.Funding: This study was funded by PCORI award RD-2020C2-20356