A disease concept model for STXBP1-related disorders.
A disease concept model for STXBP1-related disorders.
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DOI：
10.1002/epi4.12688
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发表时间：
2023-06
期刊：
影响因子：
3
通讯作者：
Helbig, Ingo
中科院分区：
文献类型：
--
作者：
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
关键词：
STXBP1相关疾病是罕见的遗传性癫痫和神经发育障碍，但症状在临床领域的影响知之甚少。疾病概念模型是评估个人及其家庭生活经验的正式框架，并为产生结果措施提供基础。我们对16名STXBP1相关疾病患者的19名护理人员和7名医疗保健专业人员进行了半结构化定性访谈。我们使用NVivo软件系统地编码主题，并将概念分组为症状，症状影响和护理人员影响等领域。我们量化了概念在整个生命周期中的频率，以及按癫痫发作史和发育轨迹分层的临床亚组。在25个小时的采访中，我们共编码了3626个引用，涉及38个不同的概念。除了公认的临床特征，如发育迟缓（n = 240篇参考文献）、行为（n = 201）和癫痫发作（n = 147）外，我们还发现了以前代表性不足的症状，包括胃肠道症状（n = 68）和呼吸道症状（n = 24）以及疼痛（n = 30）。最常提及的症状影响是自主性（n = 96），社会化（n = 64）和学校教育（n = 61）。情感影响（n = 354），支持（n = 200）和日常生活和活动（n = 108）是高度引用的照顾者的影响。我们发现癫痫发作在婴儿期比其他年龄组更常见，而行为和社会化更可能在儿童期被提及。我们发现，持续癫痫发作的个人的照顾者不太可能提到发育迟缓，可能是由于癫痫发作的影响相对较大。 STXBP1相关疾病是影响广泛临床和社会领域的复杂疾病。我们全面绘制了症状及其对家庭的影响，以生成一个全面的疾病模型，作为未来试验中临床终点的基础。
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. 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. 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. 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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DOI：
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发表时间：
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影响因子：
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通讯作者：
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