Opinie opiekunów, lekarzy i przedstawicieli organizacji pacjentów z epilepsją na temat narzędzi do oceny zachowania, komunikacji i jakości życia u osób ze zespołem Lennoksa-Gastalta

BACKGROUND: Lennox-Gastaut syndrome (LGS) is a rare developmental and epileptic encephalopathy associated with treatment-resistant seizures, profound neurodevelopmental impairments, and high caregiver burden. While seizure control is often prioritized in clinical trials, caregivers emphasize the importance of assessing behavior, communication, and quality of life. This study explored the perspectives of caregivers, clinicians, and advocates on existing instruments for measuring these domains in individuals with LGS. METHODS: We conducted four focus groups with caregivers (n = 22), epilepsy advocates (n = 5), and clinicians (n = 6). Participants reviewed pre-selected instruments for each domain before the sessions. Questions elicited feedback on instruments assessing the three domains, as well as other relevant domains for LGS. Discussions were recorded, transcribed, and thematically analyzed. RESULTS: Five themes emerged: (1) Behavior instruments - the Aberrant Behavior Checklist was favored for relevance and ease, while the Adaptive Behavior Assessment System-3 and Vineland Adaptive Behavior Scales-3 were viewed as lengthy or developmentally mismatched; (2) Communication instruments - the Communication Matrix was preferred for capturing nonverbal and alternative communication, while the Communication and Symbolic Behavior Scales lacked relevance; (3) Quality of life instruments - no clear preference emerged between Quality of Life Inventory-Disability and CDKL5 Deficiency Disorder Severity Assessment; (4) Impact on caregivers - negative language, time burden, and administration logistics posed challenges; and (5) Unaddressed gaps - sleep, gastrointestinal health, caregiver burden, socialization, and safety were noted as insufficiently captured. CONCLUSION: Participants identified strengths and limitations of existing instruments and highlighted several unmet measurement needs. These insights underscore the need for relevant, inclusive tools that are aligned with the lived experiences of individuals with LGS and their families.