Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?

There has recently been some concern on possible cognitive impairment in patients with Spinal Muscular Atrophy (SMA). The aim of this study was to assess cognitive profiles in type II and III SMA with a focus on individual indexes and possible correlations with motor function. 57 type II and III individuals, aged 3.5-17 years, were consecutively enrolled in a prospective, multicentric study. Cognitive function was assessed using age-appropriate Weschler Scales. Motor function was concomitantly assessed using disease-specific functional scales. Only 2 individuals (3%) had a intellectual disability of mild degree while the others were within normal range, with no significant difference in relation to SMA type, gender or functional status. While the overall quotients were mostly within normal range, some indexes showed wider variability. A significant positive medium correlation was found between Processing Speed Index and motor functional scores. Working memory had lower scores in type III patients compared to type II. Intellectual disability is uncommon in type II and III SMA. Motor functional abilities may play a role in some of the items contributing to the overall cognitive profile.

The Reading the Mind in the Eyes Test, Iowa Gambling Task and Interpersonal Reactivity Index: Normative Data in an Italian Population Sample.

OBJECTIVE: Social cognition and executive deficits are frequent in neurological and neuropsychiatric disorders. Yet, there is a paucity of standardized domain-specific psychometric tools for the assessment of complex decision-making, social cognition (i.e., Theory of Mind), and empathy. To this aim, this study intended at providing normative data in an Italian population sample for the Iowa Gambling Task, the Reading the Mind in the Eyes Test, and the Interpersonal Reactivity Index. METHOD: The Iowa Gambling Task, the Reading the Mind in the Eyes Test, and the Interpersonal Reactivity Index were administered to 462 healthy Italian participants aged between 18 and 91 years, considering demographic factors. A confirmatory factor analysis was run to test for unidimensionality. Normative values were derived by means of the Equivalent Scores method. RESULTS: Education predicted all tests' scores, age influenced scores at the Interpersonal Reactivity Index and the Reading the Mind in the Eyes Test, gender predicted empathic abilities only. The three tests did not underpin a unidimensional structure. CONCLUSIONS: The present work provides demographically adjusted Italian normative data for a set of tests assessing real-life decision-making, emotion recognition and empathy, filling a gap within II-level, domain-specific, neuropsychological testing. For the first time, the Interpersonal Reactivity Index is proposed as an adjuvant neuropsychological tool, while the standardization of the Iowa Gambling Task offers a new scoring system for advantageous/disadvantageous choices.

Paired associative stimulations: Novel tools for interacting with sensory and motor cortical plasticity.

In the early 2000s, a novel non-invasive brain stimulation protocol, the paired associative stimulation (PAS), was introduced, allowing to induce and investigate Hebbian associative plasticity within the humans' motor system, with patterns resembling spike-timing-dependent plasticity properties found in cellular models. Since this evidence, PAS efficacy has been proved in healthy, and to a lesser extent, in clinical populations. Recently, novel 'modified' protocols targeting sensorimotor and crossmodal networks appeared in the literature. In the present work, we have reviewed recent advances using these 'modified' PAS protocols targeting sensory and motor cortical networks. To better categorize them, we propose a novel classification according to the nature of the peripheral and cortical stimulations (i.e., within-system, cross-systems, and cortico-cortical PAS). For each protocol of the categories mentioned above, we describe and discuss their main features, how they have been used to study and promote brain plasticity, and their advantages and disadvantages. Overall, current evidence suggests that these novel non-invasive brain stimulation protocols represent very promising tools to study the plastic properties of humans' sensorimotor and crossmodal networks, both in the healthy and in the damaged central nervous system.

Modulating Frontal Networks' Timing-Dependent-Like Plasticity With Paired Associative Stimulation Protocols: Recent Advances and Future Perspectives.

Starting from the early 2000s, paired associative stimulation (PAS) protocols have been used in humans to study brain connectivity in motor and sensory networks by exploiting the intrinsic properties of timing-dependent cortical plasticity. In the last 10 years, PAS have also been developed to investigate the plastic properties of complex cerebral systems, such as the frontal ones, with promising results. In the present work, we review the most recent advances of this technique, focusing on protocols targeting frontal cortices to investigate connectivity and its plastic properties, subtending high-order cognitive functions like memory, decision-making, attentional, or emotional processing. Overall, current evidence reveals that PAS can be effectively used to assess, enhance or depress physiological connectivity within frontal networks in a timing-dependent way, in turn modulating cognitive processing in healthy and pathological conditions.

Cross-modal involvement of the primary somatosensory cortex in visual working memory: A repetitive TMS study.

Recent literature suggests that the primary somatosensory cortex (S1), once thought to be a low-level area only modality-specific, is also involved in higher-level, cross-modal, cognitive functions. In particular, electrophysiological studies have highlighted that the cross-modal activation of this area may also extend to visual Working Memory (WM), being part of a mnemonic network specific for the temporary storage and manipulation of visual information concerning bodies and body-related actions. However, the causal recruitment of S1 in the WM network remains speculation. In the present study, by taking advantage of repetitive Transcranial Magnetic Stimulation (rTMS), we look for causal evidence that S1 is implicated in the retention of visual stimuli that are salient for this cortical area. To this purpose, in a first experiment, high-frequency (10 Hz) rTMS was delivered over S1 of the right hemisphere, and over two control sites, the right lateral occipital cortex (LOC) and the right dorsolateral prefrontal cortex (dlPFC), during the maintenance phase of a high-load delayed match-to-sample task in which body-related visual stimuli (non-symbolic hand gestures) have to be retained. In a second experiment, the specificity of S1 recruitment was deepened by using a version of the delayed match-to-sample task in which visual stimuli depict geometrical shapes (non-body related stimuli). Results show that rTMS perturbation of S1 activity leads to an enhancement of participants' performance that is selective for body-related visual stimuli; instead, the stimulation of the right LOC and dlPFC does not affect the temporary storage of body-related visual stimuli. These findings suggest that S1 may be recruited in visual WM when information to store (and recall) is salient for this area, corroborating models which suggest the existence of a dedicated mnemonic system for body-related information in which also somatosensory cortices play a key role, likely thanks to their cross-modal (visuo-tactile) properties.