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.

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

Conflict of interest statement

Declaration of Conflicting Interests: H Adams and JW Mink serve on the Medical Advisory Board for the Batten Disease Support & Research Association.

Figures

Figure 1

Cognitive decline in intelligence test scores in 3 case series of children with juvenile neuronal ceroid lipofuscinosis.

Figure 2

Behavioral problems increase through middle teen years, then decrease in later years of disease. (A) Social problems by age in years. (B) Thought problems by age in years. (C) Aggressive problems by age in years.

Figure 2

Behavioral problems increase through middle teen years, then decrease in later years of disease. (A) Social problems by age in years. (B) Thought problems by age in years. (C) Aggressive problems by age in years.

Figure 2

Behavioral problems increase through middle teen years, then decrease in later years of disease. (A) Social problems by age in years. (B) Thought problems by age in years. (C) Aggressive problems by age in years.

Figure 3

Wechsler Intelligence Scale for Children - Fourth Edition Vocabulary test score, a proxy for verbal intellectual ability, declines sharply with age, in juvenile neuronal ceroid lipofuscinosis.