ArticleEpilepsia open2023
A disease concept model for STXBP1-related disorders.
Article in Epilepsia open, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Patient and caregiver knowledge as a driver of basic science.Nature reviews. Disease primers · 2026Article
- From patient advocacy to patient-driven research: Building active partnerships beginning at the bench to reach the bedside.FEBS open bio · 2026Article
- A mixed methods study of the impact of WAGR spectrum disorder on individuals and their caregivers.Orphanet journal of rare diseases · 2026Article
- Cognitive and Motor Dysfunction in STXBP1 R406H Mice.Journal of molecular neuroscience : MN · 2026Article
- Development of a patient-centered conceptual disease model in Ring 14 syndrome: a patient-centered model of lived experience.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- 'You constantly have to be switched on': A qualitative interview study of parents of children with STXBP1-related disorders in the Netherlands.Orphanet journal of rare diseases · 2025Article
- Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report.Molecular syndromology · 2024Article
- Article
- "Living with"Frontiers in neurology · 2024Article
- Review
- Delineating clinical and developmental outcomes in STXBP1-related disorders.Brain : a journal of neurology · 2023Article
- A disease concept model for STXBP1-related disorders.Epilepsia open · 2023Article
- Quality of life, socioeconomic and psychological concerns in parents of children with tuberous sclerosis complex, STXBP1 and SYNGAP1 encephalopathies: a mixed method study.Frontiers in pediatrics · 2023Article
- A draft conceptual model of SLC6A1 neurodevelopmental disorder.Frontiers in neuroscience · 2022Article
- Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome.Sage open pediatricsArticle
- STXBP1: fast-forward to a brighter future - a patient organization perspective.Therapeutic advances in rare diseaseReview
- Responding to the Need of the Hour: Natural History Studies.Epilepsy currentsArticle
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 1 country.
Funding
Abstract
objectiveSTXBP1-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.
methodsWe 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 trajectories.
resultsOver 25 hours of interviews, we coded a total of 3626 references to 38 distinct concepts. In addition to well-recognized clinical features such as developmental delay (n = 240 references), behavior (n = 201), and seizures (n = 147), we identified previously underrepresented symptoms including gastrointestinal (n = 68) and respiratory symptoms (n = 24) and pain (n = 30). The most frequently referenced symptom impacts were autonomy (n = 96), socialization (n = 64), and schooling (n = 61). Emotional impact (n = 354), support (n = 200), and daily life & activities (n = 108) were highly cited caregiver impacts. We found that seizures were more commonly referenced in infancy than in other age groups, while behavior and socialization were more likely to be referred to in childhood. We found that caregivers of individuals with ongoing seizures were less likely to reference developmental delay, possibly due to the relatively high impact of seizures. SIGNIFICANCE: STXBP1-related disorders are complex conditions affecting a wide range of clinical and social domains. We comprehensively mapped symptoms and their impact on families to generate a comprehensive disease model as a foundation for clinical endpoints in future trials.
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Registered trials
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