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.
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.
Authors: Jennifer Cialone; Heather Adams; Erika F Augustine; Frederick J Marshall; Jennifer M Kwon; Nicole Newhouse; Amy Vierhile; Erika Levy; Leon S Dure; Katherine R Rose; Denia Ramirez-Montealegre; Elisabeth A de Blieck; Jonathan W Mink Journal: J Inherit Metab Dis Date: 2011-12-14 Impact factor: 4.982
Authors: P I Dickson; A R Pariser; S C Groft; R W Ishihara; D E McNeil; D Tagle; D J Griebel; S G Kaler; J W Mink; E G Shapiro; K J Bjoraker; L Krivitzky; J M Provenzale; A Gropman; P Orchard; G Raymond; B H Cohen; R D Steiner; S F Goldkind; R M Nelson; E Kakkis; M C Patterson Journal: Mol Genet Metab Date: 2010-12-02 Impact factor: 4.797
Authors: J M Kwon; H Adams; P G Rothberg; E F Augustine; F J Marshall; E A Deblieck; A Vierhile; C A Beck; N J Newhouse; J Cialone; E Levy; D Ramirez-Montealegre; L S Dure; K R Rose; J W Mink Journal: Neurology Date: 2011-10-19 Impact factor: 9.910
Authors: Heather R Adams; Christopher A Beck; Erika Levy; Rachel Jordan; Jennifer M Kwon; Frederick J Marshall; Amy Vierhile; Erika F Augustine; Elisabeth A de Blieck; David A Pearce; Jonathan W Mink Journal: Dev Med Child Neurol Date: 2010-02-19 Impact factor: 5.449
Authors: Nadia L Mitchell; Katharina N Russell; Martin P Wellby; Hollie E Wicky; Lucia Schoderboeck; Graham K Barrell; Tracy R Melzer; Steven J Gray; Stephanie M Hughes; David N Palmer Journal: Mol Ther Date: 2018-07-17 Impact factor: 11.454