Quality of life, socioeconomic and psychological concerns in parents of children with tuberous sclerosis complex, STXBP1 and SYNGAP1 encephalopathies: a mixed method study.

ABSTRACT:

Background

Developmental and Epileptic Encephalopathies (DEEs) occur in childhood and are associated with severe epileptic seizures and neurological impairment. The aim of this study was to combine quantitative and qualitative methodologies to comprehensively describe factors related to quality of life, impact on the family and psychosocial factors in parents of children with TSC, STXBP1 and SYNGAP1 variants.

Methods

A convergent parallel mixed design including parents of children with DEE. In the cross-sectional study, 20 parents (10STXBP1, five SYNGAP1, five TSC) were given questionnaires on quality of life, impact on the family and psychological factors. In the descriptive qualitative study, in-depth interviews were conducted with 18 parents (nine STXBP1, five TSC, four S

SUBMITTER: Salcedo-Perez-Juana M 

PROVIDER: S-EPMC10665567 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature