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Neuropsychological Symptoms of Juvenile-Onset Batten Disease: Experiences From 2 Studies

University of Rochester School of Medicine and Dentistry, Rochester, New York, heather_adams{at}urmc.rochester.edu

Jennifer Kwon, MD

University of Rochester School of Medicine and Dentistry, Rochester, New York

Frederick J. Marshall, MD

University of Rochester School of Medicine and Dentistry, Rochester, New York

Elisabeth A. de Blieck, MPA

University of Rochester School of Medicine and Dentistry, Rochester, New York

David A. Pearce, PhD

University of Rochester School of Medicine and Dentistry, Rochester, New York

Jonathan W. Mink, MD, PhD

University of Rochester School of Medicine and Dentistry, Rochester, New York

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.

Key Words: Batten disease • neuronal ceroid lipofuscinoses • neuropsychological assessment

Journal of Child Neurology, Vol. 22, No. 5, 621-627 (2007)
DOI: 10.1177/0883073807302603


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