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).

Predictive Measures in Child Language Development: The Role of Familial History and Early Expressive Vocabulary.

Purpose: Prediction of developmental language disorder in children under 3 years of age is challenging. Among early risk factors, research has focused on having a positive familial history (FH+) for language or literacy problems and on late language emergence, that is, late-talker (LT) status. The interaction between these two risk factors and their cumulative effect is still debated.

Comparative genomics reveal a novel phylotaxonomic order in the genus Fusobacterium.

Fusobacteria have been associated to different diseases, including colorectal cancer (CRC), but knowledge of which taxonomic groups contribute to specific conditions is incomplete. We analyzed the genetic diversity and relationships within the Fusobacterium genus. We report recent and ancestral recombination in core genes, indicating that fusobacteria have mosaic genomes and emphasizing that taxonomic demarcation should not rely on single genes/gene regions.

Pupillary responses for social versus non-social stimuli in autism: A systematic review and meta-analysis.

Pupillometry has gained attention as a valuable tool for assessing autonomic nervous system activity and studying phasic changes in pupil size to comprehend underlying neurocognitive mechanisms. However, knowledge regarding pupillary responses to social processing in autism is limited. We conducted a systematic review and meta-analysis, examining research studies on pupil size changes that compare social and non-social stimuli in autism.

Pairing transcutaneous vagus nerve stimulation with an intensive bimanual training in children and adolescents with cerebral palsy: study protocol of a randomized sham-controlled trial.

Background: Gross motor function impairments and manual dexterity deficits are frequently observed in children and adolescents with Cerebral Palsy (CP), having a major impact on their activity level and autonomy. Improving manual dexterity and activity level of patients with CP is often the focus of rehabilitation. Novel and adjuvant treatment methods that could support the standard training also in chronic conditions are a research priority.

A Pilot Phase 2 Randomized Trial to Evaluate the Safety and Potential Efficacy of Etravirine in Friedreich Ataxia Patients.

Background: A drug repositioning effort supported the possible use of the anti-HIV drug etravirine as a disease-modifying drug for Friedreich ataxia (FRDA). Etravirine increases frataxin protein and corrects the biochemical defects in cells derived from FRDA patients. Because of these findings, and since etravirine displays a favorable safety profile, we conducted a pilot open-label phase 2 clinical trial assessing the safety and potential efficacy of etravirine in FRDA patients.

Multiple Types of Developmental Dyslexias in a Shallow Orthography: Principles for Diagnostic Screening in Italian.

A new dyslexia screening test for Italian, , is presented. The test was developed based on an integrated dual-route model of reading, which describes in detail specific mechanisms underpinning early visual processes as well as the lexical and the sublexical routes. The principle according to which the test was developed is that each dyslexia type is manifested in different kinds of errors and in different kinds of stimuli, and we therefore included stimuli sensitive to each dyslexia type in the test.

Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study.

Background: Hereditary Spastic Paraplegias (HSP) are genetic neurodegenerative disorders affecting the corticospinal tract. No established neuroimaging biomarker is associated with this condition.

Methods: A total of 46 patients affected by HSP, genetically and clinically evaluated and tested with SPRS scores, and 46 healthy controls (HC) matched by age and gender underwent a single-voxel Magnetic Resonance Spectroscopy sampling (MRS) of bilateral pre-central and pre-frontal regions.

Social face processing in chronic severe traumatic brain injury: Altered decoding of emotions and mental states but preserved gaze cueing of attention.

The processing of social information transmitted by facial stimuli is altered in individuals with traumatic brain injury (TBI). This study investigated whether these alterations also affect the mechanisms underlying the orienting of visual attention in response to eye-gaze signals. TBI patients and a control group of healthy individuals matched on relevant criteria completed a spatial cueing task.

Linking Health Terminologies: A Unified Approach to the WHO Family of International Classifications.

This paper presents an effort by the World Health Organization (WHO) to integrate the reference classifications of the Family of International Classifications (ICD, ICF, and ICHI) into a unified digital framework. The integration was accomplished via an expanded Content Model and a single Foundation that hosts all entities from these classifications, allowing the traditional use cases of individual classifications to be retained while enhancing their combined use. The harmonized WHO-FIC Content Model and the unified Foundation has streamlined the content management, enhanced the web-based tool functionalities, and provided opportunities for linkage with external terminologies and ontologies.

Exploring the impact of parents' face-mask wearing on dyadic interactions in infants at higher likelihood for autism compared with general population.

Since the COVID-19 pandemic, both the public and researchers have raised questions regarding the potential impact of protective face-mask wearing on infants' development. Nevertheless, limited research has tested infants' response to protective face-mask wearing adults in real-life interactions and in neurodiverse populations. In addition, scarce attention was given to changes in interactive behavior of adults wearing a protective face-mask.

EEG Functional Connectivity Analysis for the Study of the Brain Maturation in the First Year of Life.

Brain networks are hypothesized to undergo significant changes over development, particularly during infancy. Thus, the aim of this study is to evaluate brain maturation in the first year of life in terms of electrophysiological (EEG) functional connectivity (FC). Whole-brain FC metrics (i.

Evolution of Virus-like Features and Intrinsically Disordered Regions in Retrotransposon-derived Mammalian Genes.

Several mammalian genes have originated from the domestication of retrotransposons, selfish mobile elements related to retroviruses. Some of the proteins encoded by these genes have maintained virus-like features; including self-processing, capsid structure formation, and the generation of different isoforms through -1 programmed ribosomal frameshifting. Using quantitative approaches in molecular evolution and biophysical analyses, we studied 28 retrotransposon-derived genes, with a focus on the evolution of virus-like features.

Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disease caused by biallelic variants in the gene encoding for sacsin. More than 200 pathogenic variants have been identified to date, most of which are missense. It is likely that the prevalence of autosomal recessive spastic ataxia of Charlevoix-Saguenay is underestimated due to the lack of an efficient diagnostic tool able to validate variants of uncertain significance.

Depletion of CpG dinucleotides in bacterial genomes may represent an adaptation to high temperatures.

Dinucleotide biases have been widely investigated in the genomes of eukaryotes and viruses, but not in bacteria. We assembled a dataset of bacterial genomes (>15 000), which are representative of the genetic diversity in the kingdom Eubacteria, and we analyzed dinucleotide biases in relation to different traits. We found that TpA dinucleotides are the most depleted and that CpG dinucleotides show the widest dispersion.

Excitation/Inhibition balance relates to cognitive function and gene expression in temporal lobe epilepsy: a high density EEG assessment with aperiodic exponent.

Patients with epilepsy are characterized by a dysregulation of excitation/inhibition balance (E/I). The assessment of E/I may inform clinicians during the diagnosis and therapy management, even though it is rarely performed. An accessible measure of the E/I of the brain represents a clinically relevant feature.

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

Background: Variants in GABRB2, encoding the β2 subunit of the γ-aminobutyric acid type A (GABA) receptor, can result in a diverse range of conditions, ranging from febrile seizures to severe developmental and epileptic encephalopathies. However, the mechanisms underlying the risk of developing milder vs more severe forms of disorder remain unclear. In this study, we conducted a comprehensive genotype-phenotype correlation analysis in a cohort of individuals with GABRB2 variants.

The Italian Consensus Conference on the role of rehabilitation for children and adolescents with leukemia, central nervous system tumors, and bone cancer, part 2: general principles for the rehabilitation treatment of motor function impairments.

In Italy, 1400 children and 800 adolescents are diagnosed with cancer every year. About 80% of them can be cured but are at high risk of experiencing severe side effects, many of which respond to rehabilitation treatment. Due to the paucity of literature on this topic, the Italian Association of Pediatric Hematology and Oncology organized a Consensus Conference on the role of rehabilitation of motor impairments in children/adolescents affected by leukemia, central nervous system tumors, and bone cancer to state recommendations to improve clinical practice.