Comorbidities and predictors of health-related quality of life in Dravet syndrome: a ten-year prospective follow- up study

Makiello, P., Feng, T., Dunwoody, B., Steckler, F., Symonds, J., Zuberi, S. M., Dorris, L. and Brunklaus, A. (2023) Comorbidities and predictors of health-related quality of life in Dravet syndrome: a ten-year prospective follow- up study. Epilepsia, 64(4), pp. 1012-1020. (doi: 10.1111/epi.17531) (PMID:36740581)

Abstract

Objective: Dravet Syndrome (DS) is a severe developmental and epileptic encephalopathy, leading to reduced health related quality of life (HRQOL). Prospective outcome data on HRQOL are sparse and this study investigated long-term predictors of HRQOL in DS. Methods: 113 families of SCN1A-positive DS patients recruited as part of our 2010 study were contacted at 10-year follow-up, of which 68 (60%) responded. The mortality was 5.8%. Detailed clinical and demographic information was available for each patient. HRQOL was evaluated with two epilepsy-specific instruments, the Impact of Pediatric Epilepsy Scale (IPES) and the Epilepsy & Learning Disabilities Quality of Life Questionnaire (ELDQOL); a generic HRQOL instrument, the Pediatric Quality of Life Inventory (PedsQL); and a behavioral screening tool, the Strength and Difficulties Questionnaire (SDQ). Results: Twenty-eight patients were aged 10-15 years (0-5 years at baseline) and 40 were aged ≥16 years (≥6 years at baseline). Patients 0-5 years old at baseline showed significant decline in mean scores on the PedsQL total score (p=0.004), physical score (p<0.001), cognitive score (p=0.011), social score (p=0.003), and eating score (p=0.030) at follow-up. On multivariate regression, lower baseline and follow-up HRQOL for the whole cohort were associated with worse epilepsy severity and a high SDQ total score (R2=33% and 18% respectively). In the younger patient group, younger age at first seizure and increased severity of epilepsy were associated with a lower baseline HRQOL (R2=35%). In the older age group, worse epilepsy severity (F=6.40, p=0.016, R2=14%) and the use of sodium-channel blockers were independently associated with a lower HRQOL at 10-year follow-up (F=4.13, p=0.05, R2=8%). Significance: This 10-year prospective follow-up study highlights the significant HRQOL-associated cognitive, social and physical decline particularly affecting younger patients with DS. Sodium channel blocker use appears to negatively impact long-term HRQOL highlighting the importance of early diagnosis and disease specific management in DS.

• Item Type: Articles
• Additional Information: A.B. and S.M.Z. received a grant from Dravet Syndrome UK for the Glasgow SCN1A database (grant 16GLW00).
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Zuberi, Dr Sameer and Symonds, Dr Joseph and Brunklaus, Professor Andreas and Dorris, Professor Liam

Creator Roles

Symonds, J.: Writing – review and editing
Zuberi, S.: Conceptualization, Project administration, Methodology, Writing – review and editing
Dorris, L.: Formal analysis, Writing – review and editing
Brunklaus, A.: Project administration, Conceptualization, Supervision, Writing – review and editing, Funding acquisition, Methodology, Resources, Validation

• Authors: Makiello, P., Feng, T., Dunwoody, B., Steckler, F., Symonds, J., Zuberi, S. M., Dorris, L., and Brunklaus, A.
• College/School: College of Medical Veterinary and Life Sciences > School of Health & Wellbeing > Mental Health and Wellbeing; College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Epilepsia
• Publisher: Wiley
• ISSN: 0013-9580
• ISSN (Online): 1528-1167
• Published Online: 05 February 2023
• Copyright Holders: Copyright © 2023 The Authors
• First Published: First published in Epilepsia 64(4):1012–1020
• Publisher Policy: Reproduced under a Creative Commons License