Patient profile, management, and quality of life associated with Dravet syndrome: a cross-sectional, multicentre study of 80 patients in Spain

Gil-Nagel, A. (Antonio); Sanchez-Carpintero, R. (Rocío); Villanueva, V. (Vicente)

Authors:

Gil-Nagel, A. (Antonio)

Sanchez-Carpintero, R. (Rocío)

Villanueva, V. (Vicente)

Keywords:

Epilepsy
Severity
Mortality
Mutations
Validation
Population
Comorbidities

Issue Date:

2023

Publisher Version:

https://pubmed.ncbi.nlm.nih.gov/36849632/

ISSN:

2045-2322

Note:

Tis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. Te images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

Citation:

Gil-Nagel, A.; Sánchez-Carpintero-Abad, R. (Rocío); Villanueva, V.. "Patient profile, management, and quality of life associated with Dravet syndrome: a cross-sectional, multicentre study of 80 patients in Spain". Scientific reports. 13 (1), 2023, 3355

Abstract

The aim of this study was to describe the profile of patients diagnosed with Dravet syndrome (DS), their clinical management, and the impact of DS on their quality of life (QoL) and family. Data of 80 patients from 11 centres in Spain was collected. Patients (47.5% female) were 12.7 (9.6) years on average (SD, standard deviation). Despite the first episode occurred when patients were a mean (SD) of 0.4 (0.2) years, DS was not diagnosed until they were 6.9 (10.1) years old. The majority (86.7%) had SCN1A gene mutations and 73.4% had seizures during the last year (mostly generalized motor seizures [47.8%]). The mean (SD) number of status epilepticus episodes was 3.6 (8.0) since diagnosis and 0.1 (0.5) in the last year. On the Health Utilities Index Mark (HUI) multi-attribute scale, the mean global score (SD) was 0.56 (0.24) in HUI2 and 0.32 (0.37) in HUI3. The impact of the disease was severe in most patients (HUI2, 81%; HUI3, 83.5%). In the Care-related QoL (CarerQol) the mean (SD) well-being score was 7.2 (2.1). Most caregivers (90%) were satisfied with their caregiving tasks, although 75% had difficulties combining these tasks with daily activities, 68.8% reported mental health problems and 61.2% physical problems.

URI:

https://hdl.handle.net/10171/67295

DOI:

10.1038/s41598-023-30273-z

Appears in Collections:

DA - CUN - Pediatría - Artículos de revista

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