FV 1180. The Unified Batten Disease Rating Scale: An International Collaboration Testing Validation and Reliability in an Independent Cohort of CLN3-Patients

Problem: The neuronal ceroid lipofusinoses (NCLs) comprise more than 10 different rare, inherited, fatal lysosomal diseases of childhood. Juvenile Batten’s disease, due to mutations in CLN3 gene, is characterized by progressive vision loss, epilepsy, dementia, behavioral difficulties, and motor impairment.

The Unified Batten Disease Rating Scale (UBDRS) is a disease-specific rating scale that was developed to assess disease severity in four domains: physical, behavior, seizures, and functional capability. Validity and reliability of the UBDRS have been established in a large North American CLN3 disease cohort.

Objective: To determine whether the UBDRS is valid and reliable in an independent sample of individuals with CLN3 disease. To test international multicenter interrater reliability in the use of the UBDRS.

Method: (1) Participants with genetically confirmed CLN3 disease were recruited through the NCL clinic at the University Medical Center Hamburg Eppendorf (UKE) in Hamburg, Germany.(2) The trainer (J.M.) is a codeveloper of the UBDRS and has used it in more than 300 evaluations of individuals with CLN3 disease. Independent raters consisted of one pediatric neurologist (A.S.) and three pediatricians experience in the care of NCL patients (M.N., E.W., and C.S.). (3) Each item of the UBDRS was explained by the trainer. Three participants were evaluated by the trainer with the independent raters watching and independently scoring. Ten participants were evaluated by one of the independent evaluators with the others watching and generating scores independently. (4) Interrater reliability for the physical subscale was assessed with intraclass correlation coefficients (ICC). (5) Validity of the UBDRS physical subscale in this independent sample was assessed by comparison with previously published results.

Results: ICC analysis demonstrated excellent interrater reliability. (1) ICC for all five raters = 0.92. (2) Agreement between each rater and the trainer was > 0.99.

Conclusion: (1) The UBDRS physical subscale has excellent interrater reliability when performed by trained raters. (2) The relationship between severity and age in this independent German sample (N = 13) is comparable to the relationship previously reported in a large Norther American sample (N = 82). (3) The excellent interrater reliability and validation in an independent sample indicate that the UBDRS can used by trained raters to assess the severity and rate of progression of CLN3 disease.