Adams Heather R, Kwon Jennifer, Marshall Frederick J, de Blieck Elisabeth A, Pearce David A, Mink Jonathan W
University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
J Child Neurol. 2007 May;22(5):621-7. doi: 10.1177/0883073807302603.
Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a progressive and fatal autosomal-recessive inherited lysosomal storage disorder of childhood. Core symptoms include vision loss, seizures, and mental and motor decline. This article presents data from 2 studies of neuropsychological function in juvenile neuronal ceroid lipofuscinosis. In the first cross-sectional pilot study, 15 children with genetic or clinicopathologic confirmation of juvenile neuronal ceroid lipofuscinosis completed a brief test of attention (mean age = 14.3 +/- 2.9 years, range = 8.75-18.74 years; 7 males, 8 females). Average attention performances were significantly below age-expected normative data. A second longitudinal study was then initiated to study neuropsychological function in greater depth, including change in function over time. The authors have enrolled 18 children to date (mean age = 12.88 +/- 3.59 years, range = 6.26-18.65; 11 males, 7 females). Of these, 5 children have completed a second (annual) re-evaluation. Results thus far indicate significant impairment in domains of auditory attention, memory, estimated verbal intellectual function, and verbal fluency. Neuropsychological impairment was significantly correlated with disease duration and with motor function as assessed by a disease-specific clinical neurologic rating scale. There was no significant difference between males and females in neuropsychological test performance. Neuropsychological function was worse among children with a positive seizure history. Juvenile neuronal ceroid lipofuscinosis-affected children exhibited significant and pervasive impairments on tests of auditory attention, verbal memory and repetition, verbal fluency, and an estimate of verbal intellectual ability. Preliminary follow-up data from an annual reassessment showed progressive declines in cognitive function, in particular on a task of working memory. Neuropsychological deficits are pervasive and progressive. Future research will focus on clarifying the relationship among disease duration, motor function, and neuropsychological performances, including the relative sensitivity of neuropsychological testing at different stages of motor impairment or disease duration.
青少年神经元蜡样脂褐质沉积症（巴滕病）是一种进行性且致命的常染色体隐性遗传性儿童溶酶体贮积症。核心症状包括视力丧失、癫痫发作以及智力和运动功能衰退。本文呈现了两项关于青少年神经元蜡样脂褐质沉积症神经心理功能研究的数据。在第一项横断面试点研究中，15名经基因或临床病理确诊为青少年神经元蜡样脂褐质沉积症的儿童完成了一项简短的注意力测试（平均年龄 = 14.3 ± 2.9岁，范围 = 8.75 - 18.74岁；7名男性，8名女性）。平均注意力表现显著低于预期年龄的常模数据。随后启动了第二项纵向研究，以更深入地研究神经心理功能，包括功能随时间的变化。截至目前，作者已招募了18名儿童（平均年龄 = 12.88 ± 3.59岁，范围 = 6.26 - 18.65岁；11名男性，7名女性）。其中，5名儿童完成了第二次（年度）重新评估。目前的结果表明，在听觉注意力、记忆、估计的言语智力功能和言语流畅性等方面存在显著损害。神经心理损害与疾病持续时间以及通过特定疾病临床神经学评定量表评估的运动功能显著相关。在神经心理测试表现方面，男性和女性之间没有显著差异。有癫痫发作史的儿童神经心理功能更差。受青少年神经元蜡样脂褐质沉积症影响的儿童在听觉注意力、言语记忆和复述、言语流畅性以及言语智力能力评估测试中表现出显著且普遍的损害。年度重新评估的初步随访数据显示认知功能逐渐下降，尤其是在工作记忆任务上。神经心理缺陷是普遍且渐进的。未来的研究将集中于阐明疾病持续时间、运动功能和神经心理表现之间的关系，包括神经心理测试在运动损害或疾病持续时间不同阶段的相对敏感性。
