目的:这篇综述旨在综合变色性脑白质营养不良患者的经验,肾上腺脑白质营养不良,或者Krabbe病和他们家人的病.
背景:脑白质营养不良是由基因突变引起的代谢性疾病。这种疾病有多种形式,发病年龄和症状不同。脑白质营养不良的进展会使中枢神经系统症状恶化,并显着影响患者及其家人的生活。
方法:纳入关于脑白质营养不良患者及其家庭成员经历的定性研究。这些经验包括酶替代疗法和造血干细胞移植等治疗方法;气管造口术和胃造口术的影响;家庭负担,协调医疗保健系统内的护理,和由于遗传疾病而导致的计划生育。这篇综述考虑了任何环境下的研究。
方法:MEDLINE(Ovid),CINAHLPlus(EBSCOhost),APAPsycINFO(EBSCOhost),Scopus,和MedNar数据库于2022年11月18日进行了搜索。研究选择,批判性评估,数据提取,根据JBI方法对定性证据进行系统评价,并根据ConQual方法对综合结果进行评估。
结果:11项研究符合合成条件,并提取了45个与参与者声音相对应的发现。在这些发现中,40个是明确的,5个是可信的。纳入研究中的疾病是异染性脑白质营养不良和肾上腺脑白质营养不良;尚无针对Krabbe病患者及其家人的研究。这些发现被分为11个类别,并整合为3个综合发现,包括i)随着身体症状的进展,由家庭成员和医疗保健提供者提供护理,涉及进行性脑白质营养不良特征的影响;ii)建立医疗团队合作以提供适当的支持服务,包括与脑白质营养不良患者及其家人在医疗保健系统中遇到的挑战有关的类别;iii)协调家庭功能以接受和应对疾病,其中包括与家庭心理困难和家庭内部角色划分有关的类别。根据ConQual标准,第二个综合发现的置信水平较低,第一和第三个综合发现的置信水平非常低。
结论:这篇综述的综合发现为异嗜性脑白质营养不良或肾上腺脑白质营养不良患者及其家人的经历提供了证据。这些发现表明,在管理患者的身体状况以及协调医疗保健系统和家庭功能方面存在挑战。
背景:PROSPEROCRD42022318805。
OBJECTIVE: This
review aimed to synthesize the experiences of patients with metachromatic leukodystrophy,
adrenoleukodystrophy, or Krabbe disease and the experiences of their families.
BACKGROUND: Leukodystrophies are metabolic diseases caused by genetic mutations. There are multiple forms of the disease, varying in age of onset and symptoms. The progression of leukodystrophies worsens central nervous system symptoms and significantly affects the lives of patients and their families.
METHODS: Qualitative studies on the experiences of patients with leukodystrophies and their family members were included. These experiences included treatments such as enzyme replacement therapy and hematopoietic stem cell transplantation; effects of tracheostomy and gastrostomy; burdens on the family, coordinating care within the health care system, and family planning due to genetic disorders. This
review considered studies in any setting.
METHODS: MEDLINE (Ovid), CINAHL Plus (EBSCOhost), APA PsycINFO (EBSCOhost), Scopus, and MedNar databases were searched on November 18, 2022. Study selection, critical appraisal, data extraction, and data synthesis were conducted in accordance with the JBI methodology for systematic reviews of qualitative evidence, and synthesized findings were evaluated according to the ConQual approach.
RESULTS: Eleven studies were eligible for synthesis, and 45 findings were extracted corresponding with participants\' voices. Of these findings, 40 were unequivocal and 5 were credible. The diseases in the included studies were metachromatic leukodystrophy and
adrenoleukodystrophy; no studies were identified for patients with Krabbe disease and their families. These findings were grouped into 11 categories and integrated into 3 synthesized findings, including i) providing care by family members and health care providers as physical symptoms progress, which relates to the effects of the characteristics of progressive leukodystrophies; ii) building medical teamwork to provide appropriate support services, comprising categories related to the challenges experienced with the health care system for patients with leukodystrophy and their families; and iii) coordinating family functions to accept and cope with the disease, which included categories related to family psychological difficulties and role divisions within the family. According to the ConQual criteria, the second synthesized finding had a low confidence level, and the first and third synthesized findings had a very low confidence level.
CONCLUSIONS: The synthesized findings of this review provide evidence on the experiences of patients with metachromatic leukodystrophy or
adrenoleukodystrophy and their families. These findings indicate that there are challenges in managing a patient\'s physical condition and coordinating the health care system and family functions.
BACKGROUND: PROSPERO CRD42022318805.
UNASSIGNED: A Japanese-language version of the abstract of this review is available [ http://links.lww.com/SRX/A49 ].