Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex
Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex
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DOI：
10.1016/j.yebeh.2019.04.027
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发表时间：
2019-07-01
影响因子：
2.6
通讯作者：
Nabbout, Rima
中科院分区：
文献类型：
--
作者：
Bar, Claire;Ghobeira, Rouba;Nabbout, Rima
摘要：结节性硬化症（TSC）是一种多系统遗传病，具有高临床变异性和年龄相关性。这些特征增加了向成年过渡的复杂性。本研究旨在探讨儿童时期出现癫痫的TSC患者对医疗随访的认知和过渡体验。方法：这项法国多中心研究纳入了年龄在18岁或以上、16岁前发生癫痫的TSC患者。一份专门为研究设计的调查问卷通过270个问题探讨了患者的意见，这些问题涵盖了他们的社会、家庭、专业和医学课程的不同方面。结果：共向72例患者发放问卷，纳入研究的患者60例，有效率83%，平均年龄32岁（18-55岁）。80%的患者存在认知障碍，一半的问卷是由家属完成的。儿童护理由儿童神经科医生协调，比成人护理更有规律和多学科。癫痫的随访效果最好，其次是肾脏问题。在儿童和成人的精神和行为障碍方面确定了未满足的需求。受访者认为在成人护理中实现自主权的帮助更好。在智力发育正常的患者中，只有50%的人对自己的疾病有明确的认识，并需要定期监测。三分之二的受访者估计，他们在16.5岁至21岁之间有过变性经历，其中60%的人认为自己很好。70%的人认为儿科和成人护理之间存在连续性，只有3%的受访者认为，如果他们仍然在儿科医疗保健系统中接受治疗，他们的护理会更好。护理结构和/或照顾者的变化是过渡和转移过程中最大的压力因素。结论：本研究强调了在TSC患者随访的规律性和协调性方面持续存在的问题，尽管建立了国际指南。虽然大多数患者有一个积极的过渡经验，仍然迫切需要优化过渡方案。这对于保持儿科和成人卫生系统之间的护理连续性至关重要，特别是对于伴有癫痫和认知和精神障碍高发的TSC患者。(C) 2019由爱思唯尔公司出版。
Introduction: Tuberous sclerosis complex (TSC) is a multisystemic genetic disease with high clinical variability and age-related manifestations. These characteristics add to the complexity of transition to adulthood. This study aimed to explore the perception of medical follow-up and transition experience in a large group of patients with TSC who presented epilepsy in childhood.Method: This multicenter French study included patients with TSC aged 18 years or older who developed epilepsy before the age of 16 years. A questionnaire specifically designed for the study explored patients' opinion through 270 questions covering different aspects of their social, familial, professional, and medical courses.Results: The questionnaire was sent to 72 patients, and 60 patients were included in the study (83% response rate) with a mean age of 32 years (18-55 years). Cognitive impairment was present in 80% of patients, and half of questionnaires were completed by the family. Pediatric care was coordinated by the child neurologist and was more regular and multidisciplinary than adult care. Epilepsy had the best follow-up followed by renal issues. Unmet needs were identified for psychiatric and behavioral disorders, both in children and adults. Respondents considered the help in achieving autonomy better in adult care. Only 50% of patients with a normal intellectual development had clear knowledge about their disease and the need for a regular monitoring. Two-thirds of respondents estimated that they had a transition experience between 16.5 and 21-year-old, considered as good in 60% of them. Seventy percent felt continuity between pediatric and adult care, and only 3% of respondents felt that their care would have been better if they were still followed in pediatric healthcare system. The change of care structure and/or caregivers was the most stressful factor during transition and transfer.Conclusion: This study highlights persistent issues in the regularity and coordination of the follow-up of patients with TSC despite established international guidelines. Although most patients had a positive transition experience, there is still an urgent need to optimize transition programs. This would be essential to maintain care continuity between pediatric and adult health systems, especially for patients with TSC with epilepsy and high rate of cognitive and psychiatric impairments. (C) 2019 Published by Elsevier Inc.