Cognitive test performance in CLN3 Disease is associated with the CLN3 Staging System (CLN3SS).

Area of Science:

• Neuroscience
• Genetics
• Pediatric Neurology

Background:

• CLN3 disease is an inherited neurodegenerative disorder with childhood onset.
• Key features include vision loss, seizures, and cognitive decline.
• The CLN3 Staging System (CLN3SS) is used to characterize disease progression.

Purpose of the Study:

• To assess differences in cognitive test scores in relation to CLN3SS among individuals with CLN3 disease.
• To evaluate the relationship between cognitive test performance and CLN3SS in genetically confirmed CLN3 disease patients.

Main Methods:

• Cognitive tests assessed verbal reasoning, vocabulary, attention, fund of information, and alphabet recitation.
• One-way ANOVA and Chi-square tests were used for statistical analysis.
• Data from 85 individuals with 245 CLN3SS assessments within 6 months of cognitive testing were analyzed.

Main Results:

• A significant decrease in cognitive test scores was observed between CLN3SS Stages 1 and 2.
• The ability to recite the alphabet also decreased significantly from Stage 1 to Stage 2.
• Cognitive abilities decline with increasing CLN3 disease severity.

Conclusions:

• Cognitive ability declines with advanced CLN3 disease severity.
• Understanding the cognition-disease stage relationship can guide clinical care and trial stratification.
• Motor disability in later stages may affect cognitive assessment participation.