Developmental medicine and child neurology
-
Dev Med Child Neurol · Jul 2010
Survival of individuals with cerebral palsy receiving continuous intrathecal baclofen treatment: a matched-cohort study.
To determine whether intrathecal baclofen (ITB) changes mortality risk in persons with cerebral palsy (CP). ⋯ ITB therapy does not increase mortality in individuals with CP and may suggest an increase in life expectancy.
-
Dev Med Child Neurol · Jul 2010
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
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. ⋯ 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.