护理者对脑深部刺激治疗gnao1相关疾病的看法和决策。

IF 3.5 3区 医学 Q2 CLINICAL NEUROLOGY
Jana Domínguez-Carral, Carola Reinhard, Jane Yoo, Luca Soliani, Laura Cif, Juan Darío Ortigoza-Escobar
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引用次数: 0

摘要

目的:脑深部电刺激(DBS)是gnao1相关疾病(GNAO1-RD)患者的一种高级治疗方法,其特征是严重的运动异常,如状态障碍和运动障碍危象。围绕DBS的决策是复杂的,并受到医疗、情感和后勤因素的影响。本研究旨在探讨照顾者对决策过程的看法,包括影响因素和家庭经验。材料和方法:对接受DBS的基因确诊GNAO1-RD患者的护理人员进行了一项欧盟调查。调查收集了人口统计学、临床特征、决策因素和术后经验的数据。定量数据采用描述性分析,定性数据采用主题分析。结果:来自10个国家的12名护理人员参与了这项研究,接受DBS治疗的患者中位年龄为10.69岁,随访时间包括:结论:DBS被护理人员认为是GNAO1-RD的一种救命干预措施,有效减少运动障碍危机和状态障碍,同时提高生活质量。星展银行的决策非常复杂,需要耗费大量的情感。在这一过程中,加强沟通、以证据为基础的指导和护理人员的支持对于增强家庭权能至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Caregivers' Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders.

Objectives: Deep brain stimulation (DBS) is an advanced treatment for individuals with GNAO1-related disorders (GNAO1-RD), which are characterized by severe movement abnormalities such as status dystonicus and dyskinetic crises. Decision-making surrounding DBS is complex and influenced by medical, emotional, and logistical factors. This study aimed to explore caregiver perspectives on the decision-making process, including influencing factors and family experiences.

Materials and methods: A European Union survey was administered to caregivers of individuals with genetically confirmed GNAO1-RD who had undergone DBS. The survey collected data on demographics, clinical features, decision-making factors, and postoperative experiences. Quantitative data were descriptively analyzed whereas qualitative data were thematically analyzed.

Results: Twelve caregivers from ten countries participated, with individuals who underwent DBS at a median age of 10.69 years and follow-up durations ranging from <1 to 8.9 years. The primary indication was the management of status dystonicus and dyskinetic crises (9/12). The decision was categorized as urgent in nine of 12 cases. Factors influencing the decision included long-term quality of life, DBS effectiveness, prevention of hospitalizations, and surgeon expertise. Postoperatively, eight of 12 families reported significant reductions in status dystonicus and dyskinetic crises, with improvements observed within days to months. Challenges included inadequate preoperative information, rushed decisions due to medical urgency, and emotional tolls.

Conclusions: DBS is perceived by caregivers as a life-saving intervention for GNAO1-RD, effectively reducing dyskinetic crises and status dystonicus while improving quality of life. DBS decision-making is highly complex and emotionally taxing. Enhanced communication, evidence-based guidance, and caregiver support are critical to empowering families during this process.

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来源期刊
Neuromodulation
Neuromodulation 医学-临床神经学
CiteScore
6.40
自引率
3.60%
发文量
978
审稿时长
54 days
期刊介绍: Neuromodulation: Technology at the Neural Interface is the preeminent journal in the area of neuromodulation, providing our readership with the state of the art clinical, translational, and basic science research in the field. For clinicians, engineers, scientists and members of the biotechnology industry alike, Neuromodulation provides timely and rigorously peer-reviewed articles on the technology, science, and clinical application of devices that interface with the nervous system to treat disease and improve function.
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