Serum from women with a pregnancy complicated by a neural-tube defect contains autoantibodies that bind to folate receptors and can block the cellular uptake of folate. Further study is warranted to assess whether the observed association between maternal autoantibodies against folate receptors and neural-tube defects reflects a causal relation.
The amplitudes of motor evoked potentials to transcranial magnetic stimulation from muscles immediately proximal to a temporarily anaesthetized (Bier's block) human forearm increase in minutes after the onset of anaesthesia and return to control values after the anaesthesia subsides. In order to determine the level at which the early modulation of human motor outputs takes place, we recorded maximal H reflexes, peripheral M responses, motor evoked potentials to transcranial magnetic stimulation, and motor evoked potentials to transcranial electrical stimulation and spinal electrical stimulation from a muscle immediately proximal to a limb segment made ischaemic by a pneumatic tourniquet. The amplitudes of motor evoked potentials to transcranial magnetic stimulation, but not to transcranial electrical stimulation and spinal electrical stimulation, were larger during ischaemia, implying that the site of change was in the motor cortex. The maximal H/M ratios were unaffected by ischaemia, indicating that alpha-motor neuron excitability to segmental Ia inputs remained unchanged. The map of cortical representation areas for this muscle obtained with transcranial magnetic stimulation was also enlarged. Taken together, our findings suggest that the temporary removal by ischaemic nerve block of myelinated afferent inputs reduces inhibition at the motor cortical level and that this disinhibition is responsible for the increased excitability of the corticospinal system.
In this exploratory study, the neuropsychological and learning profile of nine primary school age children with velo-cardio-facial syndrome (VCFS) was studied by systematic neuropsychological testing. In five out of nine children, the following profile was found: a VIQ-PIQ discrepancy (in favor of the VIQ), significantly better scores (.05 level) for reading (decoding) and spelling compared to arithmetic, deficient tactile-perceptual skills (difficulties mainly on the left side of the body), weak but not deficient visual-perceptual abilities, deficient visual-spatial skills, extremely poor psychomotor skills (gross motor skills more deficient than fine motor skills), problems with processing of new and complex material, poor visual attention, good auditory memory and relatively good language skills. These findings correspond to the pattern of neuropsychological assets and deficits that has been described for the syndrome of nonverbal learning disabilities (NLD) (Rourke, 1987, 1988, 1989, 1995). The psychosocial profile of all nine children with VCFS also correspond to that of children with NLD. Further studies on the relationship between cognitive function, behavior, psychiatric disorder and abnormalities in brain anatomy in young people with VCFS will be needed. In clinical practice, it is worthwhile exploring in greater depth the neuropsychological functions of children with VCFS to rule out NLD, since they may benefit from specific remediation following the learning principles of the NLD-treatment.
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