Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Vanderbilt School of Medicine, Vanderbilt University, Nashville, TN, USA.
J Child Neurol. 2025 Jan;40(1):15-25. doi: 10.1177/08830738241283932. Epub 2024 Oct 8.
β-Propeller protein-associated neurodegeneration (BPAN) is a rare, X-linked condition caused by pathogenic variants in the 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 ( < .0001, < .0001, = .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.
β-三联蛋白相关神经退行性疾病（BPAN）是一种罕见的 X 连锁疾病，由基因中的致病变异引起自噬缺陷。作为一种具有脑铁积累的神经退行性疾病分类，β-三联蛋白相关神经退行性疾病与严重的神经功能损伤有关。随着未来治疗试验的预期，该项目描述了疾病对家庭的影响，并定义了健康概念（HC）。
对分子确诊为β-三联蛋白相关神经退行性疾病的儿童进行了前瞻性自然史研究。我们为 42 名照顾者提供了 Vineland 适应行为量表第三版，并提供了与健康相关的生活质量问卷。问卷包括儿科生活质量问卷通用核心量表和儿科生活质量问卷家庭影响模块、照顾者优先事项和儿童生活质量与残疾索引以及照顾者创伤性脑损伤-照顾者生活质量问卷。
Vineland 适应行为量表第三版（n=42）反映了家庭的观点，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（<.0001，<.0001，=.0053，分别）。同样，在照顾者优先事项和儿童生活质量与残疾指数（n=26）、儿科生活质量问卷通用核心量表（n=27）、照顾者质量问卷（n=26）和儿科生活质量问卷家庭影响量表（n=27）中，沟通能力以及社交功能和日常生活活动都被认为受到的影响最大。
通过使用标准化的调查和结果评估，我们确定了β-三联蛋白相关神经退行性疾病对照顾者生活质量的影响。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 HC 将通过管理患者报告的结果来为未来感兴趣的概念的识别和适当的临床结果评估的选择提供信息。
