Abstract Details

Title Functional Impairments in Patients with KCNQ2-DEE: Associations Among Key Clinical Features

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) P1 - Poster Session 1 (8:00 AM-9:00 AM)

Poster/Presentation
Number 1-007

Objective Examine functional impairments in patients with KCNQ2-DEE and associations among key clinical features.

Background KCNQ2-DEE is a rare, heterogenous condition that manifests as developmental delays combined with neurological comorbid signs and symptoms. While seminal work has described KCNQ2-DEE patients at the group-level, relatively little information is available about the severity and variability of the condition within individuals.

Design/Methods Data obtained from a cross-sectional survey (2018-2020) of parents of children aged 2 years and above with KCNQ2-DEE was analyzed across 4 functional ability domains (mobility, communication, hand use, and eating abilities). Each of these aspects was considered core to the condition and clinically meaningful to families. The functional domains were assessed with classifications systems commonly employed in the pediatric rehabilitation field. The associations of severe functional impairment across these domains and the number of domains with severe impairment were examined to determine which, if any, impairments tended to occur in isolation or in combination with other impairments. Data were analyzed with methods appropriate for nonparametric dichotomous and ordinal data.

Results Communication impairment and eating dependencies were apparent across the vast majority of the cohort. Severe communication impairment was the most prevalent comorbidity (N=34/51, 67%) and was present regardless of the number of other domains impacted. Severe impairments in other domains were present in N=26 (51%) for mobility, N=7 (14%) for hand use, and N=22 (43%) for eating. Several patients had multiple domains severely impacted. Of the 13 participants with only one severely affected domain, that domain was most often communication (11/13). Hand use was the least likely to be impaired; however, when it was, all three other domains were also severely impaired.

Conclusions Our analyses suggest that there is a hierarchy of impairments in which communication may be severely affected in isolation from other basic functions.

Authors/Disclosures
Anne T. Berg, PhD (Northwestern Univesity Feinberg School of Medicine) PRESENTER	Dr. Berg has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biohaven. Dr. Berg has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Berg has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Encoded. Dr. Berg has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biomarin. The institution of Dr. Berg has received research support from FamilieSCN2A Foundation.
Jason Lerner, MD (Biohaven)	Dr. Lerner has received personal compensation for serving as an employee of Biohaven Pharmaceuticals. Dr. Lerner has or had stock in Biohaven Pharmaceuticals.
John J. Millichap, MD, FAAN	Dr. Millichap has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Xenon. Dr. Millichap has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Praxis. Dr. Millichap has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biohaven. Dr. Millichap has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Praxis. Dr. Millichap has received publishing royalties from a publication relating to health care.
Gilbert J. L'Italien	Gilbert J. L'Italien has received personal compensation for serving as an employee of Biohaven Pharmaceuticals. Gilbert J. L'Italien has stock in biohaven pharmaceuticals.
Vladimir Coric	Vladimir Coric has received personal compensation for serving as an employee of Biohaven. Vladimir Coric has received personal compensation in the range of $1,000,000+ for serving as an officer or member of the Board of Directors for Bioahven. Vladimir Coric has stock in Biohaven. Vladimir Coric has received intellectual property interests from a discovery or technology relating to health care.
Michele Potashman, PhD (Biohaven)	Dr. Potashman has received personal compensation for serving as an employee of Biohaven Pharmaceuticals.

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