确定β-螺旋桨蛋白相关神经变性的健康概念。

IF 2 4区 医学 Q3 CLINICAL NEUROLOGY
Journal of Child Neurology Pub Date : 2025-01-01 Epub Date: 2024-10-08 DOI:10.1177/08830738241283932
Emma Kotes, Francesco Gavazzi, Sarah Woidill, Anjana Sevagamoorthy, Eric Yang, Vanessa Smith, Holly Dubbs, Samuel R Pierce, Kristy Pucci, Joseph Vithayathil, Nivedita Thakur, Laura A Adang
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引用次数: 0

摘要

β-螺旋桨蛋白相关神经变性(BPAN)是一种罕见的 X 连锁病,由 WDR45 基因的致病变体导致自噬缺陷引起。β-螺旋桨蛋白相关神经变性被归类为一种伴有脑铁积聚的神经变性疾病,与严重的神经功能损伤有关。本项目以未来的治疗试验为预期,从家庭的角度描述了疾病的影响,并定义了健康概念(HC)。我们对42名护理人员进行了文兰适应行为量表(Vineland Adaptive Behavior Scales-Third Edition)测试,并提供了与健康相关的生活质量问卷。调查问卷包括儿科生活质量调查表-通用核心模块和儿科生活质量调查表-家庭影响模块、照顾者优先事项和残疾儿童生活健康指数,以及照顾者TBI-CareQoL.维尼兰适应行为量表-第三版(n = 42)反映了家人的观点,即与社交、日常生活活动(ADL)和运动技能相比,沟通受到的影响更大(P P P = .0053,分别为P P = .0053)。同样,在照顾者优先事项和残疾儿童生活健康指数(n = 26)、儿科生活质量清单-通用核心(n = 27)、CareQol(n = 26)和儿科生活质量清单-家庭影响(n = 27)中,沟通能力以及社会功能和日常生活活动受到的影响最大。家庭确定的关键健康概念包括整体健康、舒适度和沟通。所确定的健康概念将为今后确定感兴趣的概念以及通过患者报告的结果选择适当的临床结果评估提供参考。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.

β-Propeller protein-associated neurodegeneration (BPAN) is a rare, X-linked condition caused by pathogenic variants in the WDR45 gene that result in a defect of autophagy. Classified as a disorder of neurodegeneration with brain iron accumulation, β-propeller protein-associated neurodegeneration is associated with severe neurologic impairments. With the anticipation of future therapeutic trials, this project characterizes the family's perspective of the impact of disease and defines Health Concepts (HC).Children with a molecularly confirmed diagnosis of β-propeller protein-associated neurodegeneration were enrolled in a prospective natural history study. We administered the Vineland Adaptive Behavior Scales-Third Edition and provided health-related quality of life questionnaires to 42 caregivers. Questionnaires included Pediatric Quality of Life Inventory-Generic Core and Pediatric Quality of Life Inventory-Family Impact modules, Caregiver Priorities and Child Health Index of Life with Disabilities, and Caregiver TBI-CareQoL.The Vineland Adaptive Behavior Scales-Third Edition (n = 42) captured the family's perspective that communication was more affected compared with socialization, activities of daily living (ADL), and motor skills (P < .0001, P < .0001, P = .0053, respectively). Similarly, on the Caregiver Priorities and Child Health Index of Life with Disabilities (n = 26), Pediatric Quality of Life Inventory-Generic Core (n = 27), CareQol (n = 26), and Pediatric Quality of Life Inventory-Family Impact (n = 27), communication abilities, as well as social functioning and activities of daily living, were noted to be most impacted.Through the use of standardized surveys and outcome assessments, we establish the effects of β-propeller protein-associated neurodegeneration on caregiver quality of life. Key health concepts identified by families included overall health, comfort, and communication. The identified HC will inform the future identification of concept of interest and selection of appropriate clinical outcome assessments through the administration of patient-reported outcomes.

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来源期刊
Journal of Child Neurology
Journal of Child Neurology 医学-临床神经学
CiteScore
4.20
自引率
5.30%
发文量
111
审稿时长
3-6 weeks
期刊介绍: The Journal of Child Neurology (JCN) embraces peer-reviewed clinical and investigative studies from a wide-variety of neuroscience disciplines. Focusing on the needs of neurologic patients from birth to age 18 years, JCN covers topics ranging from assessment of new and changing therapies and procedures; diagnosis, evaluation, and management of neurologic, neuropsychiatric, and neurodevelopmental disorders; and pathophysiology of central nervous system diseases.
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