title: Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).
abstract: Juvenile neuronal ceroid lipofuscinosis is a childhood-onset neurodegenerative disease with prominent symptoms comprising a pediatric dementia syndrome: intellectual decline, mood and behavioral impairments, and loss of adaptive skills. We review the history of neurobehavioral features in juvenile neuronal ceroid lipofuscinosis and the work of the University of Rochester Batten Center to characterize the extent and progression of neurobehavioral symptoms over the disease course, and discuss the relevance of neurobehavioral studies as an aid to understanding the clinical phenotype of juvenile Batten disease and potential targets for intervention.
authors.affiliation: University of Rochester Batten Center Study Group, University of Rochester School of Medicine and Dentistry, Department of Neurology, Rochester, New York, NY, USA.
authors.forename: Heather R
authors.initials: HR
authors.lastname: Adams
authors.forename: Jonathan W
authors.initials: JW
authors.lastname: Mink
mesh_terms: D002648:Child; D002653:Child Behavior Disorders / Q000209:etiology / Q000523:psychology*; D003072:Cognition Disorders / Q000209:etiology / Q000523:psychology*; D018450:Disease Progression; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications / Q000523:psychology*; D010641:Phenotype
keywords: Unified Batten Disease Rating Scale; behavior; cognition; neuropsychology; quality of life