Schaare Donna, Allison Kendra, Skorge Kara, Fox Pangkong, Lusk Laina, Sarasua Sara M, Helbig Ingo, Boccuto Luigi
Ph.D. Program in Healthcare Genetics and Genomics, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC, United States.
School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC, United States.
Front Neurol. 2024 Nov 1;15:1460187. doi: 10.3389/fneur.2024.1460187. eCollection 2024.
-related Hemiplegic Migraine (HM) is a rare neurological disorder distinguished by paroxysmal episodes of hemiparesis/hemiplegia with and without headache. Clinical features have been widely characterized, yet the impacts of the paroxysmal events on the patient and caregiver have not been thoroughly explored. Disease concept models are formal frameworks used to describe the lived experiences of patients and their families, offering a source for surrogate endpoints for clinical trials.
We completed 13 semi-structured interviews with caregivers of 12 individuals diagnosed with -related HM. We methodically coded themes, grouping concepts into three domains. We measured the occurrence of concepts throughout all interviews and subgroups stratified by age categories.
Over 11 h of interviews yielded 2,018 references to 27 distinct concepts. Established symptoms such as seizures (87 references; including status epilepticus 27 references), hemiparesis/hemiplegia (24 references), and unconsciousness (17 references) were referenced, as well as previously underreported symptoms such as apneic episodes (32 references), lost ability to eat (13 references), and vascular access challenges (10 references). The symptom impacts were largely medical (294 references), followed by health (101 references), emotional (36 references), daily living (28 references), and social (26 references). Caregiver impacts were the most referenced domain (995 references), with the pivotal effects seen in caregiver requirements (355 references), emotional (245 references), HM treatments (179 references), daily living (148 references), and health support (135 references).
-related HM is a complex disorder defined by serious paroxysmal events that affects a broad range of social and clinical domains. We systematically classified symptoms and impacts from HM episodes, creating a disease concept model to help develop surrogate endpoints for future clinical trials, and identified two opportunities to improve patient management, including a written emergency protocol and a transition plan for adolescents approaching adulthood.
与[疾病名称]相关的偏瘫性偏头痛（HM）是一种罕见的神经系统疾病，其特征为伴有或不伴有头痛的偏瘫/半身轻瘫阵发性发作。临床特征已得到广泛描述，但阵发性发作对患者及其照料者的影响尚未得到充分探讨。疾病概念模型是用于描述患者及其家庭生活经历的正式框架，为临床试验提供替代终点的来源。
我们对12名被诊断为与[疾病名称]相关的HM患者的照料者进行了13次半结构化访谈。我们系统地编码主题，将概念分为三个领域。我们测量了所有访谈以及按年龄类别分层的亚组中概念的出现情况。
超过11小时的访谈产生了2018条对27个不同概念的提及。提及了癫痫发作（87次提及；包括癫痫持续状态27次提及）、偏瘫/半身轻瘫（24次提及）和昏迷（17次提及）等既定症状，以及呼吸暂停发作（32次提及）、进食能力丧失（13次提及）和血管通路挑战（10次提及）等先前报告不足的症状。症状影响主要是医疗方面的（294次提及），其次是健康（101次提及）、情绪（36次提及）、日常生活（28次提及）和社交（26次提及）。照料者影响是被提及最多的领域（995次提及），在照料者需求（355次提及）、情绪（245次提及）、HM治疗（179次提及）、日常生活（148次提及）和健康支持（135次提及）方面可见关键影响。
与[疾病名称]相关的HM是一种由严重阵发性发作定义的复杂疾病，会影响广泛的社会和临床领域。我们系统地对HM发作的症状和影响进行了分类，创建了一个疾病概念模型以帮助为未来临床试验开发替代终点，并确定了改善患者管理的两个机会，包括书面应急方案和针对接近成年的青少年的过渡计划。
