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A disease concept model for STXBP1‐related disorders
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...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235567/ https://www.ncbi.nlm.nih.gov/pubmed/36625631 http://dx.doi.org/10.1002/epi4.12688 |
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author | Sullivan, Katie R. Ruggiero, Sarah M. Xian, Julie Thalwitzer, Kim M. Ali, Rahma Stewart, Sydni Cosico, Mahgenn Steinberg, Jackie Goss, James Pfalzer, Anna C. Horning, Kyle J. Weitzel, Nicole Corey, Sydney Conway, Laura Rigby, Charlene Son Bichell, Terry Jo Helbig, Ingo |
author_facet | Sullivan, Katie R. Ruggiero, Sarah M. Xian, Julie Thalwitzer, Kim M. Ali, Rahma Stewart, Sydni Cosico, Mahgenn Steinberg, Jackie Goss, James Pfalzer, Anna C. Horning, Kyle J. Weitzel, Nicole Corey, Sydney Conway, Laura Rigby, Charlene Son Bichell, Terry Jo Helbig, Ingo |
author_sort | Sullivan, Katie R. |
collection | PubMed |
description | 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 trajectories. RESULTS: Over 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. |
format | Online Article Text |
id | pubmed-10235567 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-102355672023-06-03 A disease concept model for STXBP1‐related disorders Sullivan, Katie R. Ruggiero, Sarah M. Xian, Julie Thalwitzer, Kim M. Ali, Rahma Stewart, Sydni Cosico, Mahgenn Steinberg, Jackie Goss, James Pfalzer, Anna C. Horning, Kyle J. Weitzel, Nicole Corey, Sydney Conway, Laura Rigby, Charlene Son Bichell, Terry Jo Helbig, Ingo Epilepsia Open Original Articles 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 trajectories. RESULTS: Over 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. John Wiley and Sons Inc. 2023-04-27 /pmc/articles/PMC10235567/ /pubmed/36625631 http://dx.doi.org/10.1002/epi4.12688 Text en © 2023 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Original Articles Sullivan, Katie R. Ruggiero, Sarah M. Xian, Julie Thalwitzer, Kim M. Ali, Rahma Stewart, Sydni Cosico, Mahgenn Steinberg, Jackie Goss, James Pfalzer, Anna C. Horning, Kyle J. Weitzel, Nicole Corey, Sydney Conway, Laura Rigby, Charlene Son Bichell, Terry Jo Helbig, Ingo A disease concept model for STXBP1‐related disorders |
title | A disease concept model for STXBP1‐related disorders |
title_full | A disease concept model for STXBP1‐related disorders |
title_fullStr | A disease concept model for STXBP1‐related disorders |
title_full_unstemmed | A disease concept model for STXBP1‐related disorders |
title_short | A disease concept model for STXBP1‐related disorders |
title_sort | disease concept model for stxbp1‐related disorders |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235567/ https://www.ncbi.nlm.nih.gov/pubmed/36625631 http://dx.doi.org/10.1002/epi4.12688 |
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