Developmental medicine and child neurology
-
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.
-
Dev Med Child Neurol · May 2010
Comparative StudyMechanical ventilation for respiratory failure in children with severe neurological impairment: is it futile medical treatment?
To assess outcome for children with severe neurological impairment receiving invasive mechanical ventilation for respiratory failure. ⋯ Mechanical ventilation for respiratory failure in children with severe neurological impairment is complex and associated with limited survival. However, it cannot be regarded as futile medical treatment. Further studies are urgently needed for the rational guidance of clinical decision-making.
-
Dev Med Child Neurol · May 2010
Review Case ReportsSevere childhood encephalopathy with dyskinesia and prolonged cognitive disturbances: evidence for anti-N-methyl-D-aspartate receptor encephalitis.
We report four cases of acquired severe encephalopathy with massive hyperkinesia, marked neurological and cognitive regression, sleep disturbance, prolonged mutism, and a remarkably delayed recovery (time to full recovery between 5 and 18mo) with an overall good outcome, and its association with anti-N-methyl-d-aspartate (anti-NMDA) receptor antibodies. ⋯ The clinical features are similar to those first reported in 1992 by Sebire et al.,(1) and rarely recognized since. Sleep disturbance was not emphasized as part of the disorder, but appears to be an important feature, whereas coma is less certain and difficult to evaluate in this setting. The combination of symptoms, evolution (mainly seizures at onset), severity, paucity of abnormal laboratory findings, very slow recovery, and difficult management justify its recognition as a specific entity. The neuropathological substrate may be anatomically close to that involved in encephalitis lethargica, in which the same target functions (sleep and movement) are affected but in reverse, with hypersomnolence and bradykinesia. This syndrome closely resembles anti-NMDA receptor encephalitis, which has been reported in adults and is often paraneoplastic.
-
Dev Med Child Neurol · Feb 2010
Relationship between neuromuscular body functions and upper extremity activity in children with cerebral palsy.
Our aim was to investigate the relationship between the dimensions of neuromuscular body function and elbow, forearm, and hand activity in the upper extremities in children/adolescents with spastic cerebral palsy (CP), within the framework of the World Health Organization International Classification of Functioning, Disability and Health. ⋯ In high-functioning children and adolescents with CP, limited active supination range and difficulties in generating and modulating force are strongly related to limitations in hand activity. Further studies are needed to establish cause and effect in this relationship.