Behavioral and emotional symptoms and quality of life in a national sample of individuals with CLN3 Batten disease

Background CLN3 Batten disease, also known as Juvenile Neuronal Ceroid Lipofuscinosis, is a childhood-onset neurodegenerative disorder caused by mutations in the CLN3 gene, frequently accompanied by emotional and behavioral symptoms. Although these symptoms and a reduced quality of life have been previously reported in individuals with CLN3 disease and their parents, no published comparisons with siblings exist. Furthermore, age and sex differences require further study. In a nationally representative sample (n = 20, age 7-29 years), the present study applied the ASEBA Behavior Checklists, the Inventory of Life Quality to examine the prevalence of emotional and behavioral problems and quality of life in affected individuals and sibling controls. Additionally, we assessed parental quality of life using the Satisfaction With Life Scale. Results We found that individuals with CLN3 disease scored in the borderline clinical range for the ASEBA total problem scores (mean 63.1, SD 11.6), whereas siblings fell within the normal variation range (mean 46.4, SD 11.4). A severely reduced quality of life was reported for both affected individuals and their parents, while siblings scored within the normal range. No significant sex differences were found. Despite facing significant challenges, families also reported strengths in their offspring: grit, determination and a sense of humor in affected individuals, and empathy and dutifulness in sibling controls. Conclusions This study underscores the significant emotional and behavioral challenges faced by individuals with CLN3 Batten disease, which affect the quality of life for them and their parents. These findings emphasize the need for targeted interventions for both the patients and their families.