2024 American Academy of Neurology Abstract Website

Objective:

To characterize the clinical and humanistic burden of Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS).

Background:

DS and LGS are rare, childhood-onset, developmental epileptic encephalopathies distinguished by frequent seizures, and cognitive, behavioral, and developmental issues profoundly impacting patients’ and caregivers’ lives.

Design/Methods:

Natural language processing (NLP) technology retrospectively analyzed physician-patient interactions recorded in Amplity Insights' medical transcription database. Eligible patients had ≥1 inpatient or outpatient record and a DS or LS diagnosis, based on symptoms and/or genetic or electroencephalography findings. Descriptive characteristics, seizure and nonseizure burden, and quality-of-life (QoL) impacts were summarized.

Results:

Between January 2010—January 2022, NLP queries identified 166 patients with DS and 1063 patients with LGS treated with ≥1 antiseizure medication (ASM). Most patients with data were White (DS: 95%; LGS: 90%), aged <18 years in the DS group (83%) and ≥18 years in the LGS group (58%). Most common comorbidities were autism spectrum disorder (DS: 19%), cardiovascular disease (DS: 15%; LGS: 21%), and cerebral palsy (LGS: 19%). Among patients mentioning seizures (DS: n=164; LGS: n=1036), onset causes were unknown (DS: 48%; LGS: 55%), generalized (DS: 38%; LGS: 38%), and focal (DS: 15%; LGS: 7%). The most frequent seizure type in both groups was convulsive (DS: 39%; LGS: 28%). Nonseizure burden included impaired/delayed communication skills (DS: 31%; LGS: 38%), with nonverbal communication most impacted (DS: 22%; LGS: 34%). Half of all patients (DS: 51%; LGS: 50%) experienced developmental delays other than communication/alertness/disruptive behavior issues. Most frequently reported QoL impacts on patients included sleep issues (DS: 13%; LGS: 10%) and feeding-tube use (DS: 8%; LGS: 8%). Caregivers’ burden was mentioned for 8% (DS) and 14% (LGS) of patients.

Conclusions:

Analysis of this transcription database revealed that despite treatment with ASMs, patients with DS and LGS experience seizures, nonseizure symptoms, and QoL burdens that extend to caregivers.