An analytical method to separate modality-specific and nonspecific sensory components of event-related potentials.

Several models have been developed to analyse cortical activity in response to salient events constituted by multiple sensory modalities. In particular, additive models compare event-related potentials (ERPs) in response to stimuli from two or more concomitant sensory modalities with the ERPs evoked by unimodal stimuli, in order to study sensory interactions. In this approach, components that are not specific to a sensory modality are commonly disregarded, although they likely carry information about stimulus expectation and evaluation, attentional orientation and other cognitive processes. In this study, we present an analytical method to assess the contribution of modality-specific and nonspecific components to the ERP. We developed an experimental setup that recorded ERPs in response to four stimulus types (visual, auditory, and two somatosensory modalities to test for stimulus specificity) in three different conditions (unimodal, bimodal and trimodal stimulation) and recorded the saliency of these stimuli relative to the sensory background. Stimuli were delivered in pairs, in order to study the effects of habituation. To this end, spatiotemporal features (peak amplitudes and latencies at different scalp locations) were analysed using linear mixed models. Results showed that saliency relative to the sensory background increased with the number of concomitant stimuli. We also observed that the spatiotemporal features of modality-specific components derived from this method likely reflect the amount and type of sensory input. Furthermore, the nonspecific component reflected habituation occurring for the second stimulus in the pair. In conclusion, this method provides an alternative to study neural mechanisms of responses to multisensory stimulation.

The Use of Different International References to Assess Child Anthropometric Status in a Malaysian Population.

OBJECTIVE: To assess the prevalence of child underweight, overweight, and obesity in a Malaysian population according to 3 international references because classification of anthropometric status may differ according to the reference used to express body mass index (BMI). STUDY DESIGN: We assessed data from 6414 children aged 6-18 years, collected by the South East Asia Community Observatory. Child underweight, overweight, and obesity were expressed according to 3 internationally used BMI references: World Health Organization 2007, International Obesity Task Force 2012, and Centers for Disease Control and Prevention 2000. We assessed agreement in classification of anthropometric status among the references using Cohen's kappa statistic and estimated underweight, overweight, and obesity prevalence according to each reference using mixed effects Poisson regression. RESULTS: There was poor to moderate agreement between references when classifying underweight, but generally good agreement when classifying overweight and obesity. Underweight, overweight, and obesity prevalence estimates generated using the 3 references were notably inconsistent. Overweight and obesity prevalence estimates were higher using the World Health Organization reference vs the other 2, and underweight prevalence was up to 8.5% higher and obesity prevalence was about 4% lower when using the International Obesity Task Force reference. CONCLUSIONS: The choice of reference to express BMI may influence conclusions about child anthropometric status and malnutrition prevalence. This has implications regarding strategies for clinical management and public health interventions.

Spondylocostal dysostosis associated with methylmalonic aciduria.

Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and formation defects associated with changes of the ribs. Autosomal dominant and recessive modes of inheritance have been reported. Methylmalonic aciduria (MMA) is an inborn error of propionate or cobalamin metabolism. It is an autosomal recessive disorder and one of the most frequent forms of branched-chain organic acidurias. Here we report on a case of a Brazilian boy with both diseases. As we know, it is the first case in the literature with the occurrence of both SCD and MMA--the first a skeletal disease and the latter an inborn error of metabolism.

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.

Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal vertebral segmentation and defects affecting spine formation, with complete bilateral fusion of the ribs at the costovertebral junction producing a "crab-like" configuration of the thorax. The shortened spine and trunk can severely affect respiratory function during early childhood. The condition is prevalent in the Puerto Rican population, although it is a panethnic disorder. By sequencing a set of candidate genes involved in mouse segmentation, we identified a recessive E103X nonsense mutation in the mesoderm posterior 2 homolog (MESP2) gene in a patient, of Puerto Rican origin and from the Boston area, who had been diagnosed with STD/JLS. We then analyzed 12 Puerto Rican families with STD probands for the MESP2 E103X mutation. Ten patients were homozygous for the E103X mutation, three patients were compound heterozygous for a second nonsense mutation, E230X, or a missense mutation, L125V, which affects a conserved leucine residue within the bHLH region. Thus, all affected probands harbored the E103X mutation. Our findings suggest a founder-effect mutation in the MESP2 gene as a major cause of the classical Puerto Rican form of STD/JLS.