Perinatal MRI diffusivity is related to early assessment of motor performance in preterm neonates.

Preterm neonates represent a high-risk population for abnormal neuropsychological development. But presently, an accurate method for identifying those at risk is not available. This study evaluated the association between the microstructural organization measured with Diffusion Tensor Imaging (DTI) in term-corrected preterm neonates and subsequent motor performance. Fractional anisotropy (FA), axial diffusion (AD), mean diffusivity (MD) and radial diffusivity (RD) were determined in two regions of interest (ROIs) corresponding to the posterior limb of the internal capsule (PLIC) and cortico-spinal tract (CST). The Griffiths Mental Developmental Scales (GMDS) were longitudinally administered at 3, 6 and 15 months; and correlations between the metrics of diffusivity and the motor subscale of the GMDS were assessed using the Spearman correlation. A statistically significant negative correlation was observed between the AD of PLIC of the left hemisphere and the 3-month GMDS Locomotor Subscale. These results suggested that AD is a valid indicator of the stage of maturation of the motor pathway in preterm neonates, but not of later motor outcome.

Levetiracetam in absence epilepsy.

The aim of the study was to assess the efficacy, tolerability, and safety of levetiracetam therapy in children and adolescents with absence epilepsy. Twenty-one participants (11 male, 10 female) with typical absence seizures were enrolled in this prospective study from seven centres in Italy. The mean age and age range at time of enrollment into the study were 8 years 9 months (SD 0.9) and 5 years 1 month to 13 years respectively. All patients were carefully evaluated at 6 months from baseline, and 12 patients were also re-evaluated at 12 months after the beginning of therapy with levetiracetam. At the 6-month evaluation, out of 21 patients studied, 11 were seizure free and one showed 'decreased' seizures (more than 50% reduction in seizures). A less than 50% reduction in seizures was observed in nine patients. At the 12-month evaluation, 10 patients were completely seizure free and two were seizure free with some anomalies in electroencephalograms. Two patients who had shown no improvement at 6 months had decreased seizures at the second follow-up. Our results suggest that monotherapy with levetiracetam could be effective and well tolerated in patients with childhood absence epilepsy and juvenile absence epilepsy. Prospective, large, long-term double-blind studies are needed to confirm these findings.

Epileptic EEG discharges and short non-convulsive crisis: Influence on cognitive and psychobehavioural functions in youths.

PURPOSE: Learning and behavioural difficulties often occur in benign childhood epilepsy. In recent years, several electroencephalogram (EEG) characteristics have been related to the occurrence of learning and behavioral problems. We determined if the cognitive characteristics of epileptic children depend exclusively on illness factors, or if epileptic electroencephalogram discharges during the crisis contribute to these changes. METHODS: We studied a randomly selected group of 150 youths with short non-convulsive crises, who completed cognitive testing and electroencephalographic studies. The inclusion criteria were: undefined crisis, variations in cognitive function and/or frequent epileptiform discharges on the electroencephalogram. RESULTS: Previous research indicates that the type of epilepsy and the patient's educational level can influence cognitive functioning. The electroencephalographic epileptic discharges during the crisis has been found to influence cognitive transitory functions such as vigilance or swiftness of mental functions. The type of epilepsy is correlated statistically with impairment of learning ability tests: reading (F, 5.487, P = 0.005) and mathematics (F, 3.007, P < or = 0.05). In addition, 40% of the epileptic patients had behavioural disordered versus 16% for the control group (P < 0.02). CONCLUSIONS: Our results show dissociation between the characteristic directly dependent on epilepsy, particularly the type of epilepsy, on stable cognitive functions, such as the progress in school, and the effect of parosystic anomalies or the immediate effect of crisis and EEG dischargeson cognitive processes.

A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance.

We report an apparently healthy 5-year-old girl with multiple vertebral segmentation defects, partial fusion of some left ribs, abnormal vertebral arches, left renal agenesis, and a 'Cooley-like' hand appearance radiologically. The costovertebral defects were extensive but not contiguous, which establishes this case as being different from the Mendelian forms of spondylocostal dysostosis. The extended skeletal involvement raises the question as to how this case is classified within this heterogeneous group of disorders and we believe this might represent a new and distinct entity.

Classical lissencephaly associated with dolichocephaly, hair and nail defect.

We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects. The diagnosis of lissencephaly was made in utero, allowing the rapid characterization of the phenotype at birth. Because previously reported cases were not associated with the features described in our proband, they might represent a newly identified condition.