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We examined genotype-clinical phenotype differences in children with Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) who are homozygotes for a common diseasecausing deletion versus compound heterozygotes. We also cross-validated the Child Behavior Checklist (CBCL) and the Unified Batten Disease Rating Scale (UBDRS). Sixty children (28 males, 32 females) with JNCL completed the UBDRS. The mean age was 15y 1 mo (SD 4y 9mo). No significant genotype-clinical phenotype differences were identified when comparing deletion homozygote children to a heterogenous group of compound heterozygote children. There were significant correlations among related items and scales on the Child Behavior Checklist (CBCL) and UBDRS behavior problems. Additionally, behavior and physical function ratings were uncorrelated, supporting divergent validity of the behavior and physical function constructs in JNCL. Past reports of genotype-clinical phenotype differences were not supported in the present investigation, which did not find differences between CLN3 deletion homozygotes (the most common single genotype) and heterozygotes. The CBCL, an alreadyvalidated measure of general behavior problems, appears valid for use in JNCL and cross-validates well with the UBDRS, a diseasespecific measure of JNCL.
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