A Longitudinal Multimodal Imaging Study in Patients with Temporo-Insular Diffuse Low-Grade Tumors: How the Inferior Fronto-Occipital Fasciculus Provides Information on Cognitive Outcomes.

Background: Tractography allows the in vivo study of subcortical white matter, and it is a potential tool for providing predictive indices on post-operative outcomes. We aim at establishing whether there is a relation between cognitive outcome and the status of the inferior fronto-occipital fasciculus's (IFOF's) microstructure.

Methods: The longitudinal neuropsychological data of thirty young (median age: 35 years) patients operated on for DLGG in the left temporo-insular cortex along with pre-surgery tractography data were processed.

NAT2 Slow Acetylator Phenotype as a Significant Risk Factor for Hepatotoxicity Caused by Antituberculosis Drugs: Results From a Multiethnic Nested Case-Control Study.

Background: Under standard therapies, the incidence of drug-induced liver injury (DILI) in patients with tuberculosis ranges from 2% to 28%. Numerous studies have identified the risk factors for antituberculosis DILI; however, none have been conducted in a multiethnic real-world setting. The primary outcome of the current study was to identify the risk factors that could be used as the best predictors of DILI in a multiethnic cohort.

Artificial intelligence tools for engagement prediction in neuromotor disorder patients during rehabilitation.

Background: Robot-Assisted Gait Rehabilitation (RAGR) is an established clinical practice to encourage neuroplasticity in patients with neuromotor disorders. Nevertheless, tasks repetition imposed by robots may induce boredom, affecting clinical outcomes. Thus, quantitative assessment of engagement towards rehabilitation using physiological data and subjective evaluations is increasingly becoming vital.

Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.

Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy.

Methods: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form.

Socially interactive agents for robotic neurorehabilitation training: conceptualization and proof-of-concept study.

Introduction: Individuals with diverse motor abilities often benefit from intensive and specialized rehabilitation therapies aimed at enhancing their functional recovery. Nevertheless, the challenge lies in the restricted availability of neurorehabilitation professionals, hindering the effective delivery of the necessary level of care. Robotic devices hold great potential in reducing the dependence on medical personnel during therapy but, at the same time, they generally lack the crucial human interaction and motivation that traditional in-person sessions provide.

Swallowing function in patients with spinal muscular atrophy before and after the introduction of new gene-based therapies: what has changed?

Objective: Individuals diagnosed with Spinal Muscular Atrophy (SMA), particularly those presenting with the most severe phenotypes, have long contended with significant swallowing dysfunction. The recent emergence of efficacious advanced therapy has fundamentally altered the landscape of SMA management. By encompassing both the pre and post gene-based therapy eras within our analysis, we endeavour to elucidate the potential impact of these novel therapeutic interventions on this function.

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.

Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022.

Effects of a video-feedback intervention on parenting behavior and state anxiety in mothers of children with neurodevelopmental disabilities.

Neurodevelopmental disability (ND) poses a significant challenge to infants' socio-emotional and cognitive development, as well as to caregiving dynamics, such as parental sensitivity and mother-infant interaction. Prior research highlights the crucial role of early parenting support interventions in enhancing parental behaviors, serving as a protective developmental factor for children at risk for or diagnosed with ND. This single-cohort, multicentric study aims to evaluate the efficacy of early video-feedback intervention (VFI) in improving maternal parenting behaviors.

A systematic review of cross-patient approaches for EEG epileptic seizure prediction.

: Seizure prediction could greatly improve the quality of life of people suffering from epilepsy. Modern prediction systems leverage artificial intelligence (AI) techniques to automatically analyze neurophysiological data, most commonly the electroencephalogram (EEG), in order to anticipate upcoming epileptic events. However, the performance of these systems is normally assessed using randomized splitting methods, which can suffer from data leakage and thus result in an optimistic evaluation.

The Italian version of the Coma Recovery Scale for Pediatrics.

Background: The Coma Recovery Scale for Pediatrics (CRS-P) is a modified version of the Coma Recovery Scale-Revised (CRS-R). This CRS-P looks at behavioral responses and diagnoses Coma, Vegetative State, MCS and E-MCS in pediatric age. It is an ordinal scale consisting of 29 items divided into 6 subscales.

Electroencephalography derived connectivity informing epilepsy surgical planning: Towards clinical applications and future perspectives.

Epilepsy is one of the most diffused neurological disorders, affecting 50 million people worldwide. Around 30% of patients have drug-resistant epilepsy (DRE), defined as failure of at least two tolerated antiseizure medications (ASMs) to achieve sustained seizure freedom. Brain surgery is an effective therapeutic approach in this group, hinging on the accurate localization of the epileptic focus.

News insights into social cognition in Williams syndrome from a comprehensive assessment and a virtual reality task.

Although the uneven neuropsychological profile of William Syndrome (WS) is well established, less is known about social perception and how profile characteristics may affect the ability to predict other's intentions, a main hallmark of social cognition. This study aimed at examining the neuropsychological profile, including social perception, of adolescents and adults with WS, and at verifying which neuropsychological outcome might account for their social prediction ability. Twenty-six individuals with WS were administered a comprehensive neuropsychological assessment, and a virtual reality scenario designed to assess social prediction in a dynamic, everyday life-like context.

Neurophysiological evidence of motor contribution to vicarious affective touch.

Understanding observed interpersonal touch, particularly the so-called affective touch targeting the CT fibers, is essential for social interactions. Research has documented that observing other people being touched activates the same cortical areas involved in direct tactile experiences. However, observing interpersonal touch also activates an inner simulation of the movements in the observer's motor system.

Tonic and tonic-clonic seizures in the first year of life: Insights from electrographic features.

Objective: We studied the electrographic features of tonic seizures (TS) with bilateral contraction and tonic-clonic seizures (TCS) without focal signs occurring during the first year of life to evaluate if there is a correlation with outcome.

Methods: We retrospectively reviewed patients aged 1 to 12 months with at least one TS or TCS recorded with video-EEG between 2011 and 2021 in our Epilepsy Monitoring Unit. We analyzed the following electrographic features: seizure duration, presence and duration of focal ictal EEG onset, and post-ictal generalized EEG suppression (PGES).

Exploring cognitive Landscapes: Longitudinal Dynamics of left insula gliomas using neuropsychological inquiry, fMRI, and intra-resection real time neuropsychological testing.

We explored the functional outcome following awake surgery and Real-Time Neuropsychological Testing (RTNT) in the left insula. We carried out a longitudinal investigation by comparing the patients' language profile, and, in particular, the object-naming skills and the associated fMRI network, of pre-surgery and follow-up (i.e.

Update on Inherited Pediatric Motor Neuron Diseases: Clinical Features and Outcome.

Background: Inherited pediatric motor neuron diseases (MNDs) are a group of neurodegenerative disorders characterized by the degeneration of motor neurons in the brain and the spinal cord. These diseases can manifest as early as infancy and originate from inherited pathogenic mutations in known genes. Key clinical features of MNDs include muscle weakness, hypotonia, and atrophy due to the degeneration of lower motor neurons or spasticity, hypertonia, and hyperreflexia caused by upper motor neuron dysfunction.

Parasagittal dural volume correlates with cerebrospinal fluid volume and developmental delay in children with autism spectrum disorder.

Background: The parasagittal dura, a tissue that lines the walls of the superior sagittal sinus, acts as an active site for immune-surveillance, promotes the reabsorption of cerebrospinal fluid, and facilitates the removal of metabolic waste products from the brain. Cerebrospinal fluid is important for the distribution of growth factors that signal immature neurons to proliferate and migrate. Autism spectrum disorder is characterized by altered cerebrospinal fluid dynamics.

Prospective Interrelation Between Sensory Sensitivity and Fine Motor Skills During the First 18 Months Predicts Later Autistic Features.

Sensory features are included in the diagnostic criteria of autism and atypical sensory responsiveness may produce "cascading effects" on later development. Similarly, autistic individuals often struggle with motor coordination and early delays in the motor domain appear to be linked to later development. However, the longitudinal interrelation between early sensory profiles and motor features on later socio-communicative skills remains to be defined.

Positive Selection Drives the Evolution of the Structural Maintenance of Chromosomes (SMC) Complexes.

Structural Maintenance of Chromosomes (SMC) complexes are an evolutionary conserved protein family. In most eukaryotes, three SMC complexes have been characterized, as follows: cohesin, condensin, and SMC5/6 complexes. These complexes are involved in a plethora of functions, and defects in SMC genes can lead to an increased risk of chromosomal abnormalities, infertility, and cancer.

Internal Consistency and Floor/Ceiling Effects of the Gross Motor Function Measure for Use with Children Affected by Cancer: A Cross-Sectional Study.

Children/adolescents with cancer can develop adverse effects impacting gross motor function. There is a lack of gross motor function assessment tools that have been validated for this population. The aim of this multicenter cross-sectional study was to preliminary validate the 88-item Gross Motor Function Measure (GMFM-88) for use in children/adolescents with cancer, exploring internal consistency and floor/ceiling effect.

Dynamic transient brain states in preschoolers mirror parental report of behavior and emotion regulation.

The temporal dynamics of resting-state networks may represent an intrinsic functional repertoire supporting cognitive control performance across the lifespan. However, little is known about brain dynamics during the preschool period, which is a sensitive time window for cognitive control development. The fast timescale of synchronization and switching characterizing cortical network functional organization gives rise to quasi-stable patterns (i.

Cognitive, Social, and Emotional-Behavioral Outcomes in Children and Adolescents With Beckwith-Wiedemann Syndrome.

Although Beckwith-Wiedemann syndrome spectrum (BWSp) is not usually associated with intellectual disability, recent evidences calls for further investigation of cognitive development and academic skills in children with BWSp. Moreover, research has documented social difficulties and emotional-behavioral problems associated with BWSp. Nevertheless, a full characterization of socio-emotional development in BWSp is still lacking.

Monitoring Cognitive Functions During Deep Brain Stimulation Interventions by Real Time Neuropsychological Testing.

Objective: We monitored cognition in 14 Parkinson's disease (PD) patients during deep brain stimulation (DBS) surgery when the electrode was positioned at the target subthalamic nucleus (STN) (i.e., the STN motor area).