Clinical and Neuropsychological Investigations in Batten Disease

Batten Disease is an inherited disorder that causes progressive cognitive and behavioral
decline in children. There have been no systematic clinical studies of Batten Disease using
standardized rating instruments with known inter-rater reliability and validity.

The Batten Study Group developed the Unified Batten Disease Rating Scale (UBDRS), a clinical
rating instrument used to assess the motor, behavioral, and functional capabilities of
individuals with Batten disease. Using the UBDRS, study investigators will evaluate
participants approximately every year to track disease progression. The UBDRS is the primary
natural history tool, but the study also includes neuropsychological assessment, adaptive
function, quality of life measures, and other measures to assess the impact of Batten
Disease. Participants will be examined at the University of Rochester Batten Center, Batten
Disease Support and Research Association annual meeting, or remotely via televideo.
Information related to racial and ethnic background, medical history, symptoms, medications,
and diagnostic testing will be collected.

Inclusion Criteria:

- child or adult with any form of Batten disease

- parent or legal guardian of a child or adult with any form of Batten disease

Exclusion Criteria:

- parent or guardian unable or unwilling to provide permission for the affected individual