Department of Neurology, New York University Grossman School of Medicine, New York, New York.
Departments of Pediatrics and Neurology, The Ohio State University College of Medicine, and the Division of Child Neurology, Nationwide Children's Hospital, Columbus, Ohio.
Eur J Paediatr Neurol. 2021 Nov;35:A2. doi: 10.1016/j.ejpn.2021.11.007. Epub 2021 Nov 17.
Batten disease, also known as neuronal ceroid lipofuscinosis, refers to a diverse group of 13 hereditary inborn errors of metabolism resulting in the abnormal accumulation of autofluorescent storage material in lysosomes leading to neurodegeneration, typically with associated intractable epilepsy, behavioral dysregulation, cognitive, motor, language and visual decline, as well as a shortened life expectancy [1]. Assessment of disease progression within this population is fraught with difficulty because individuals may have limited attention or cooperation affecting compliance with requested tasks, or have visual impairment reducing options for methods of assessment. Further, language and cognitive assessments have been designed to assess typically developing individuals based on specific age limits, which then fail to capture low developmental functioning once the mental age of the individual drops below the basal age of the assessment tool. Yet, metrics to measure disease progression are essential to inform therapeutic decision-making, prognostication, and clinical trial outcomes.
Batten 病，又称神经元蜡样脂褐质沉积症，是一组由 13 种遗传性代谢缺陷引起的疾病，导致溶酶体中异常的 autofluorescent 储存物质积累，进而导致神经退行性变，通常伴有难治性癫痫、行为失调、认知、运动、语言和视力下降，以及预期寿命缩短[1]。由于个体的注意力或合作可能有限，从而影响对请求任务的依从性，或者由于视力障碍，减少了评估方法的选择，因此评估该人群中的疾病进展充满困难。此外，语言和认知评估是根据特定的年龄限制来评估正常发育个体的，但一旦个体的智力年龄低于评估工具的基础年龄，这些评估就无法捕捉到较低的发育功能。然而，衡量疾病进展的指标对于告知治疗决策、预后和临床试验结果至关重要。
