Meaningful Change in Priority Functional Abilities Domains in Developmental and Epileptic Encephalopathy Conditions
Abstract number :
3.506
Submission category :
16. Epidemiology
Year :
2024
Submission ID :
1576
Source :
www.aesnet.org
Presentation date :
12/9/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Jenny Downs, PhD – Telethon Kids Institute
Sophie Haywood, PhD – Telethon Kids Institute
Natasha Ludwig, PhD – Kennedy Krieger Institute
Mary Wojnaroski, PhD – Nationwide Children's Hospital
Rebecca Hommer, EdD – University of Maryland
Kelly Muzyczka, PhD – Decoding Developmental Epilepsies
JayEtta Hecker, MS – Decoding Developmental Epilepsies
Gabrielle Conecker, MPH – Decoding Developmental Epilepsies - DEE-P connection, International SCN8A Alliance & The Inchstone Project
Anne Berg, PhD – Decoding Developmental Epilepsies
Rationale: Developmental and Epileptic Encephalopathy (DEE) conditions are associated with seizures, developmental impairments and comorbidities. Reliable and valid clinical outcome assessments that are responsive to change are needed for multiple domains. There is little information available on what improvement would be meaningful. This study explored parent-described meaningful change for six functional ability domains.
Methods: The DEE Parents Speak survey was administered to parents of children at least 12 months old with a neurodevelopmental condition that included severely impaired communication skills. Parents rated their child’s severity of impairment in functional domains. They identified their top 3 of 17 functional and health domains where they would like improvement and described the smallest improvement in that area that would be important. Qualitative data for 6 domains (expressive and receptive communication, independent and safe eating, gross motor, hand function) were analysed with direct content analysis. Codes were identified to describe each meaningful change, tabulated in Excel and presented for each level of impairment.
Results: Data were provided by 267 parents. The median child age was 8.7 (interquartile range 4.2-14.5) years. A genetic cause was identified as primary aetiology in 236 (88.4%) and history of seizures or epilepsy reported in 201 (75.3%). Expressive communication was identified as the top priority in 154 (58%). Analysis yielded 106 meaningful change codes. Frequent codes for the purpose of expressive communication (expressing feelings/emotions, indicating pain/discomfort, expressing needs/wants) and receptive communication (following simple instructions) were similar across impairment levels. Codes for modes of communication ranged from speaking sentences if mildly impaired to non-verbal methods if severely impaired. For eating safely, codes (less choking, coughing, aspiration) were similar across impairment levels but codes described the manner of eating (manageable bites, eating slowly) if less impaired and swallowing pureed foods and thickened liquids if more impaired. Codes for eating independently described independence (autonomy), use of utensils (cutlery, bottles/cups), managing food (not overfilling mouth, less mess) and the child’s approach to mealtimes (enjoying and concentrating on food) across levels of impairment. For gross motor, codes varied with the level of impairment (walking longer distances if able to walk, independent walking and sitting if needing assistance to walk, development of head and trunk control and sitting if unable to walk). For hand function (manipulation of push buttons, eating utensils, toys and pages) were described across impairment levels.
Conclusions: Meaningful change codes were similar across impairment levels for some but not all components of functioning, illustrating the severity and complexity of DEE conditions. These data will inform future studies to determine how to quantitatively measure meaningful change in upcoming clinical trials.
Funding: The Inchstone Project, a project of Decoding Developmental Epilepsies.
Epidemiology