A clinical rating scale for Batten disease: reliable and relevant for clinical trials.
BACKGROUND
Batten disease (juvenile neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive neurodegenerative disorder characterized by blindness, seizures, and relentless decline in cognitive, motor, and behavioral function. Onset is in the early school years, with progression to death typically by late adolescence. Development of a clinical instrument to quantify severity of illness is a prerequisite to eventual assessment of experimental therapeutic interventions.


OBJECTIVE
To develop a clinical rating instrument to assess motor, behavioral, and functional capability in JNCL.


METHODS
A clinical rating instrument, the Unified Batten Disease Rating Scale (UBDRS), was developed by the authors to assess motor, behavioral, and functional capability in JNCL. Children with verified JNCL were evaluated independently by three neurologists. Intraclass correlation coefficients (ICCs) were used to estimate the interrater reliability for total scores in each domain. Interrater reliability for scale items was assessed with weighted kappa statistics.


RESULTS
Thirty-one children with confirmed JNCL (10 boys, 21 girls) were evaluated. The mean age at symptom onset was 6.1 +/- 1.6 years, and the mean duration of illness was 9.0 +/- 4.4 years. The ICCs for the domains were as follows: motor = 0.83, behavioral = 0.68, and functional capability = 0.85.


CONCLUSIONS
The Unified Batten Disease Rating Scale (UBDRS) is a reliable instrument that effectively tests for neurologic function in blind and demented patients. In its current form, the UBDRS is useful for monitoring the diverse clinical findings seen in Batten disease.
Marshall
F J
FJ
University of Rochester School of Medicine and Dentistry, 1351 Mt. Hope Ave., Suite 223, Rochester, NY 14620, USA. fred.marshall@ctcc.rochester.edu
de Blieck
E A
EA
Mink
J W
JW
Dure
L
L
Adams
H
H
Messing
S
S
Rothberg
P G
PG
Levy
E
E
McDonough
T
T
DeYoung
J
J
Wang
M
M
Ramirez-Montealegre
D
D
Kwon
J M
JM
Pearce
D A
DA
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002986:Clinical Trials as Topic / Q000592:standards; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D009460:Neurologic Examination / Q000379:methods / Q000592:standards; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000503:physiopathology / Q000523:psychology; D009483:Neuropsychological Tests / Q000592:standards*; D010556:Personality Tests / Q000592:standards*; D011237:Predictive Value of Tests; D011379:Prognosis; D012720:Severity of Illness Index; D016896:Treatment Outcome