A disease concept model for STXBP1-related disorders.

ABSTRACT:

Objective

STXBP1-related disorders are rare genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models are formal frameworks to assess the lived experience of individuals and their families and provide a basis for generating outcome measures.

Methods

We conducted semistructured, qualitative interviews with 19 caregivers of 16 individuals with STXBP1-related disorders and 7 healthcare professionals. We systematically coded themes using NVivo software and grouped concepts into the domains of symptoms, symptom impact, and caregiver impact. We quantified the frequency of concepts throughout the lifespan and across clinical subgroups stratified by seizure history and developmental trajectori

SUBMITTER: Sullivan KR 

PROVIDER: S-EPMC10235567 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature