Considerable recent work suggests that mathematical abilities in children correlate with the ability to estimate numerosity. Does math correlate only with numerosity estimation, or also with other similar tasks? We measured discrimination thresholds of school-age (6- to 12.5-years-old) children in 3 tasks: numerosity of patterns of relatively sparse, segregatable items (24 dots); numerosity of very dense textured patterns (250 dots); and discrimination of direction of motion. Thresholds in all tasks improved with age, but at different rates, implying the action of different mechanisms: In particular, in young children, thresholds were lower for sparse than textured patterns (the opposite of adults), suggesting earlier maturation of numerosity mechanisms. Importantly, numerosity thresholds for sparse stimuli correlated strongly with math skills, even after controlling for the influence of age, gender and nonverbal IQ. However, neither motion-direction discrimination nor numerosity discrimination of texture patterns showed a significant correlation with math abilities. These results provide further evidence that numerosity and texture-density are perceived by independent neural mechanisms, which develop at different rates; and importantly, only numerosity mechanisms are related to math. As developmental dyscalculia is characterized by a profound deficit in discriminating numerosity, it is fundamental to understand the mechanism behind the discrimination. (PsycINFO Database Record
The aim of this review is to discuss the existing evidence supporting different processes of visual brain plasticity after early damage, as opposed to damage that occurs during adulthood. There is initial evidence that some of the neuroplastic mechanisms adopted by the brain after early damage to the visual system are unavailable at a later stage. These are, for example, the ability to differentiate functional tissue within a larger dysplastic cortex during its formation, or to develop new thalamo-cortical connections able to bypass the lesion and reach their cortical destination in the occipital cortex. The young brain also uses the same mechanisms available at later stages of development but in a more efficient way. For example, in people with visual field defects of central origin, the anatomical expansion of the extrastriatal visual network is greater after an early lesion than after a later one, which results in more efficient mechanisms of visual exploration of the blind field. A similar mechanism is likely to support some of the differences found in people with blindsight, the phenomenon of unconscious visual perception in the blind field. In particular, compared with people with late lesions, those with early brain damage appear to have stronger subjective awareness of stimuli hitting the blind visual field, reported as a conscious feeling that something is present in the visual field. Expanding our knowledge of these mechanisms could help the development of early therapeutic interventions aimed at supporting and enhancing visual reorganization at a time of greatest potential brain plasticity.Brain plasticity consists of the modifications to the central nervous system in response to environmental stimulation, which allow us to learn new skills, remember new information, and recover from brain injury. 1 Mechanisms of neuronal plasticity are more powerful during early development. For example, children are faster than adults in learning a new language or in achieving complex skills such as playing a musical instrument. 2 Similarly, children lacking proper environmental inputs early in life are more susceptible to an abnormal development of the functions related to those inputs (the principle of sensitive periods 3 ).The presence of more powerful mechanisms of neuronal plasticity during early development should imply that recovery from brain damage is more effective after early lesions than after lesions occurring later in life. This principle was first suggested by Paul Broca in 1865 4 and then more systematically explored by Margaret Kennard in the late 1930s. 5 Since then, most of the studies of different species have supported this general principle, although describing a more complex picture, which takes into consideration several other aspects beyond timing of the insult, including the location and extension of injury (e.g. focal versus diffuse), the clinical phenotype (e.g. presence of seizures), or the genetic susceptibility of the individual. 6 Today, there is general agreement that the way the bra...
AIM To develop and validate the Visual Function Classification System (VFCS), which was created to classify how children with cerebral palsy (CP) use visual abilities in daily life.METHOD The process of development and validation of the VFCS involved four phases: (1) drafting of the five levels from the analysis of literature and clinical experience; (2) validation of constructs and revision of the levels for concept meaningfulness, using nominal group process; (3) refinement by international Delphi survey; and (4) assessment of interrater reliability among professionals and with caregivers, and of test-retest reliability.RESULTS Five nominal groups involved 29 participants; 65 people completed the first round and 51 the second round of the Delphi survey. Construct validity was demonstrated within an expert group and external validation through several stakeholders, with the involvement of patients and families to ensure meaningfulness of the concept. Discussions continued until consensus was reached about the construct and content of the five levels. Participants in the reliability study included 29 professionals, 39 parents, and a total sample of 160 children with CP (mean age [SD] 6y 6mo [3y 4mo]; median 5y 7mo, range 1-19y). Absolute interrater agreement among professionals was 86% (weighted j=0.88; 95% confidence interval [CI] 0.83-0.93). Test-retest reliability was high (weighted j=0.97; 95% CI 0.95-0.99). Parent-professional interrater reliability on 39 children was moderate (weighted j=0.51; 95% CI 0.39-0.63).INTERPRETATION The VFCS has been appropriately constructed and provides a reliable system to classify visual abilities of children with CP both in clinical and in research settings.
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity—there are over 80 potential disease-associated genes—and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. In a single-center, cross-sectional study, spanning 4 years, 239 subjects with a clinical diagnosis of HSP underwent molecular screening of a large set of genes, using two different customized NGS panels. The latest version of our targeted sequencing panel (SpastiSure3.0) comprises 118 genes known to be associated with HSP. Using an in-house validated bioinformatics pipeline and several in silico tools to predict mutation pathogenicity, we obtained a positive diagnostic yield of 29% (70/239), whereas variants of unknown significance (VUS) were found in 86 patients (36%), and 83 cases remained unsolved. This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings. Its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP. It also disclosed a significant number of new mutations in ultra-rare genes, expanding the clinical spectrum, and genetic landscape of HSP, at least in Italy.
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