Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies.

ABSTRACT:

Aim

To summarize quality of life (QoL) and its determinants, including disease severity, in individuals with developmental and epileptic encephalopathies (DEEs) through a tailored questionnaire.

Method

A questionnaire containing 89 items addressing demographic characteristics, genetic diagnosis, clinical features, and QoL was distributed to primary caregivers of individuals with DEEs through patient advocacy organizations. Composite scores were generated from the mean values of QoL items, grouped into domain scores.

Results

Out of 176 received responses, the most common genetic diagnoses reported were SCN2A (n=42/173, 24%), SLC6A1 (n=28/173, 16%), SCN1A (n=22/173, 13%), and KCNQ2 (n=21/173, 12%). Composite QoL scores centered around a mean score of 61.67 of 100 (SD 17

SUBMITTER: Cohen SR 

PROVIDER: S-EPMC10305579 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature