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.

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.

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.

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.

Neuronal avalanches in temporal lobe epilepsy as a noninvasive diagnostic tool investigating large scale brain dynamics.

The epilepsy diagnosis still represents a complex process, with misdiagnosis reaching 40%. We aimed at building an automatable workflow, helping the clinicians in the diagnosis of temporal lobe epilepsy (TLE). We hypothesized that neuronal avalanches (NA) represent a feature better encapsulating the rich brain dynamics compared to classically used functional connectivity measures (Imaginary Coherence; ImCoh).

Alterations of Functional Connectivity Dynamics in Affective and Psychotic Disorders.

Background: Patients with psychosis and patients with depression exhibit widespread neurobiological abnormalities. The analysis of dynamic functional connectivity (dFC) allows for the detection of changes in complex brain activity patterns, providing insights into common and unique processes underlying these disorders.

Methods: We report the analysis of dFC in a large sample including 127 patients at clinical high risk for psychosis, 142 patients with recent-onset psychosis, 134 patients with recent-onset depression, and 256 healthy control participants.

Altered spread of waves of activities at large scale is influenced by cortical thickness organization in temporal lobe epilepsy: a magnetic resonance imaging-high-density electroencephalography study.

Temporal lobe epilepsy is a brain network disorder characterized by alterations at both the structural and the functional levels. It remains unclear how structure and function are related and whether this has any clinical relevance. In the present work, we adopted a novel methodological approach investigating how network structural features influence the large-scale dynamics.

Faces do not guide attention in an object-based facilitation manner.

Numerous studies on face processing have revealed their special ability to affect attention, but relatively little research has been done on how faces guide spatial attention allocation. To enrich this field, this study resorted to the object-based attention (OBA) effect in a modified double-rectangle paradigm where the rectangles were replaced with human faces and mosaic patterns (non-face objects). Experiment 1 replicated the typical OBA effect in the non-face objects, but this effect was absent in Asian and Caucasian faces.

Automated ICF Coding of Rehabilitation Notes for Low-Resource Languages via Continual Training of Language Models.

The coding of medical documents and in particular of rehabilitation notes using the International Classification of Functioning, Disability and Health (ICF) is a difficult task showing low agreement among experts. Such difficulty is mainly caused by the specific terminology that needs to be used for the task. In this paper, we address the task developing a model based on a large language model, BERT.

Altered spreading of neuronal avalanches in temporal lobe epilepsy relates to cognitive performance: A resting-state hdEEG study.

Objective: Large aperiodic bursts of activations named neuronal avalanches have been used to characterize whole-brain activity, as their presence typically relates to optimal dynamics. Epilepsy is characterized by alterations in large-scale brain network dynamics. Here we exploited neuronal avalanches to characterize differences in electroencephalography (EEG) basal activity, free from seizures and/or interictal spikes, between patients with temporal lobe epilepsy (TLE) and matched controls.

Resting state network dynamic reconfiguration and neuropsychological functioning in temporal lobe epilepsy: An HD-EEG investigation.

Temporal lobe epilepsy (TLE) is nowadays considered a network disorder impacting several cognitive domains. In this work we investigated dynamic network reconfiguration differences in patients with unilateral TLE compared to a healthy control group, focusing on two connectivity indices: flexibility and integration. We apply these indices for the first time to high-density EEG source-based functional connectivity.

20 Years of ICF-International Classification of Functioning, Disability and Health: Uses and Applications around the World.

The International Classification of Functioning Disability and Health (ICF) was approved in 2001 and, since then, several studies reported the increased interest about its use in different sectors. A recent overview that summarizes its applications is lacking. This study aims to provide an updated overview about 20 years of ICF application through an international online questionnaire, developed by the byline authors, and sent to each World Health Organization Collaborating Centers of the Family of International Classifications (WHO-FIC CCs).

Ontological modeling of the International Classification of Functioning, Disabilities and Health (ICF): Activities&Participation and Environmental Factors components.

Background: The International Classification of Functioning, Disability and Health (ICF) is a classification of health and health-related states developed by the World Health Organization (WHO) to provide a standard and unified language to be used as a reference model for the description of health and health-related states. The concept of functioning on which ICF is based is that of a "dynamic interaction between a person's health condition, environmental factors and personal factors". This overall model has been translated into a classification covering all the main components of functioning.

Developmental and epilepsy spectrum of Poirier-Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature.

Aim: To better characterize the clinical phenotype of Poirier-Bienvenu neurodevelopmental syndrome (OMIM ID: 618,732) due to pathogenic variants of the CSNK2B gene.

Method: We reviewed the electro-clinical and developmental data of all 14 patients with de novo mutations of the CSNK2B gene reported in the literature and describe a further individual with a novel CSNK2B pathogenic variant.

Results: Clustered generalized tonic-clonic or myoclonic seizures with onset before the age of 18 months and delayed neurodevelopment were present in more than 75% of patients.

Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.

Background: Epilepsy is a main feature of Mowat Wilson Syndrome (MWS), a congenital malformation syndrome caused by ZEB2 variants. The aim of this study was to investigate the long-term evolution of the electroclinical phenotype of MWS in a large population.

Methods: Forty-individuals with a genetically confirmed diagnosis were enrolled.

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.

Purpose: Epilepsy is a main manifestation in the autosomal dominant mental retardation syndrome caused by heterozygous variants in MEF2C. We aimed to delineate the electro-clinical features and refine the genotype-phenotype correlations in patients with MEF2C haploinsufficiency.

Methods: We thoroughly investigated 25 patients with genetically confirmed MEF2C-syndrome across 12 different European Genetics and Epilepsy Centers, focusing on the epileptic phenotype.

Game of "crowning" season 8: RAS and reproductive hormones in COVID-19 - can we end this viral series?

The outbreak of a newly identified coronavirus, the SARS-CoV-2 (alternative name 2019-nCoV), capable of jumping across species causing zoonosis with severe acute respiratory syndromes (SARS), has alerted authorities worldwide. Soon after the epidemic was first detected in the city of Wuhan in the Hubei Province of China, starting in late December 2019, the virus spread over multiple countries in different continents, being declared a pandemic by March 2020. The demographic characteristics of the infected patients suggest that age, sex, and comorbidities are predictive factors for the fatality of the infection.

Heterogeneity and Classification of Recent Onset Psychosis and Depression: A Multimodal Machine Learning Approach.

Diagnostic heterogeneity within and across psychotic and affective disorders challenges accurate treatment selection, particularly in the early stages. Delineation of shared and distinct illness features at the phenotypic and brain levels may inform the development of more precise differential diagnostic tools. We aimed to identify prototypes of depression and psychosis to investigate their heterogeneity, with common, comorbid transdiagnostic symptoms.