Authors :
First Author: Ayana'a Sudduth, BS – Decoding Developmental Epilepsies
Presenting Author: Mary Wojnaroski, PhD – Nationwide Children's Hospital
Sara Te, BS – Decoding Developmental Epilepsies; Gabrielle Conecker, MPH – Decoding Developmental Epilepsies; JayEtta Hecker, MS – Decoding Developmental Epilepsies; Natasha Ludwig, PhD – Neuropsychology/Psychiatry and Behavioral Sciences – Kennedy Krieger Institute/Johns Hopkins School of Medicine; Mary Wojnaroski, PhD – Psychology/Psychiatry and Behavioral Health – Nationwide Children’s Hospital/Ohio State University; Jenny Downs, PhD – Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia; Rebecca Hommer, EdD – University of Maryland, Connections Beyond Sight and Sound; Anne Berg, PhD – Neurology – Northwestern Feinberg School of Medicine
Rationale:
The Developmental and Epileptic Encephalopathies (DEE), in addition to seizures, are characterized by severe functional impairments and life-limiting non-seizure morbidities (NSM), which may have similar or greater impact than seizures. The DEE Parents Speak Survey elicited caregiver insight into which NSMs may be the most common and have the greatest impact, overall and relative to seizures.
Methods:
An online survey built in CLIRINX© was disseminated to caregivers through Parent-Advocacy Groups affiliated with DEE-P Connections. The survey addressed the impact on the affected child (“subject”) and family in 17 NSM areas and asked caregivers to identify the top three NSMs for improvement. Eligible subjects were ≥ one year old, had severely impaired communication and either mobility or eating ability. They also had to have one or more of the following diagnoses: global delay, intellectual disability, epilepsy, or autism.
Results:
Of 115 survey subjects (mean age 9.12, range 1-36.5) 66 (57.4%) were female, 97 (84.4%) were US-based, and 20 DEE diseases were represented. Severe impairment (complete caregiver dependence) was reported for four core NSM domains, gross motor (7, 6.1%), communication (102, 88.7%), eating (62, 53.9%), and hand use (57, 49.6%). 42 (36.5%) had severe impairment in three or all four domains. Half or more of caregivers rated the following domains as having major or overwhelming impacts on: expressive communication (91, 82%), gross motor (84, 74.3%), fine motor (66, 58.4%), receptive communication (91, 82%), self-feeding (60, 53.6%), problem solving (63, 56.3%), social engagement (57, 50.9%), and GI problems (57, 50.9%) (Fig 1). Severity of impact on the subject was similar to that on the family. Areas rated as having little/no impact on the subject by 50% or more of caregivers were trouble staying awake (75, 67%), behavioral self-regulation (62, 56.4%), dysautonomias (71, 64.6%), and pain (73, 65.2%). Top priorities identified for improvement by ≥50% of caregivers were expressive communication (87, 77.2%) and gross motor (68, 60.8%).
For 93 subjects with epilepsy, relative to NSMs, 49 (52.7%) caregivers rated seizures as having less or equal impact to NSMs, and 44 (47.3%) as greater impact. This response was overwhelmingly influenced by the recency of the last seizures (Fig 2) with 25.8% saying seizures had the greatest impact and are more important if the last seizure was the same day as the survey to 14% saying little impact and overall less importance if >6 months prior to the survey (p=0.0002).
Conclusions:
A majority of caregivers identified expressive communication, gross and fine motor abilities, receptive communication, self-feeding, problem solving, social engagement and GI problems as having a major or overwhelming impact on their child and on the family. These were also rated as the top priorities by over half of parents as priorities for improvement. Our results support these domains as primary or secondary areas for targeted outcome in therapy trials for rare and severe DEEs and highlight the need for fit-for-purpose measures for individuals with severe impairments in these areas.
Funding: This project was funded by Decoding Developmental Epilepsies.