Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Article first published online: 19 FEB 2010
© The Authors. Journal compilation © Mac Keith Press 2010
Developmental Medicine & Child Neurology
Volume 52, Issue 7, pages 637–643, July 2010
How to Cite
ADAMS, H. R., BECK, C. A., LEVY, E., JORDAN, R., KWON, J. M., MARSHALL, F. J., VIERHILE, A., AUGUSTINE, E. F., DE BLIECK, E. A., PEARCE, D. A. and MINK, J. W. (2010), Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). Developmental Medicine & Child Neurology, 52: 637–643. doi: 10.1111/j.1469-8749.2010.03628.x
- Issue published online: 9 JUN 2010
- Article first published online: 19 FEB 2010
- Accepted for publication 16th December 2009. Published online 19th February 2010.
Aim The primary aim of this investigation was to examine genotype and clinical phenotype differences in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL) who were homozygous for a common disease-causing deletion or compound heterozygous. The secondary aim was to cross-validate the Child Behavior Checklist (CBCL) and the Unified Batten Disease Rating Scale (UBDRS), a disease-specific JNCL rating scale.
Method Sixty individuals (28 males, 32 females; mean age 15y 1mo, SD 4y 9mo, range 5y 8mo–31y 1mo) with JNCL completed the UBDRS.
Results No significant genotype and clinical phenotype differences were identified when comparing individuals homozygous for the deletion with a heterogeneous group of compound heterozygous individuals. There were significant correlations among related behaviour items and scales on the CBCL and UBDRS (Spearman’s rho ranging from 0.39 [p<0.05] to 0.72 [p<0.01]). Behaviour and physical function ratings were uncorrelated, supporting divergent validity of these two constructs in JNCL.
Interpretation Previous reports of genotype and clinical phenotype differences were unsupported in this investigation, which did not find differences between individuals homozygous or heterozygous for the CLN3 deletion. The CBCL, an already validated measure of behaviour problems, appears valid for use in JNCL and cross-validates well with the UBDRS.