Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease)

J Child Neurol. 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813.


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.

Keywords: Unified Batten Disease Rating Scale; behavior; cognition; neuropsychology; quality of life.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Child
  • Child Behavior Disorders / etiology
  • Child Behavior Disorders / psychology*
  • Cognition Disorders / etiology
  • Cognition Disorders / psychology*
  • Disease Progression
  • Humans
  • Neuronal Ceroid-Lipofuscinoses / complications
  • Neuronal Ceroid-Lipofuscinoses / psychology*
  • Phenotype