Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

Purpose To provide imaging biomarkers of generalized spike-and-wave discharges (GSWD) in patients with GLUT1 deficiency syndrome (GLUT1DS). Methods Eighteen GLUT1DS patients with pathogenetic mutation in SLC2A1 gene were studied by means of Video-EEG simultaneously recorded with functional MRI (VideoEEG-fMRI). A control group of sex and age-matched patients affected by Genetic Generalized Epilepsy (GGE) with GSWD were investigated with the same protocol. Within and between groups comparison was performed as appropriated. For GLUT1DS, correlations analyses between the contrast of interest and the main clinical measurements were provided. Results EEG during fMRI revealed interictal GSWD in 10 GLUT1DS patients. Group-level analysis showed BOLD signal increases at the premotor cortex and putamen. With respect to GGE, GLUT1DS patients demonstrated increased neuronal activity in the putamen, precuneus, cingulate cortex, SMA and paracentral lobule. Whole-brain correlation analyses disclosed a linear relationship between the GSWD-related BOLD changes and the levels of glycorrhachia at diagnosis over the sensory-motor cortex and superior parietal lobuli. Conclusion The BOLD dynamics related to GSWD in GLUT1DS are substantially different from typical GGE showing the former an increased activity in the premotor-striatal network and a decrease in the thalamus. The revealed hemodynamic maps might represent imaging biomarkers of GLUT1DS, being potentially useful for a precocious diagnosis of this genetic disorder

Knowledge Graphs Evolution and Preservation -- A Technical Report from ISWS 2019

One of the grand challenges discussed during the Dagstuhl Seminar "Knowledge Graphs: New Directions for Knowledge Representation on the Semantic Web" and described in its report is that of a: "Public FAIR Knowledge Graph of Everything: We increasingly see the creation of knowledge graphs that capture information about the entirety of a class of entities. [...] This grand challenge extends this further by asking if we can create a knowledge graph of "everything" ranging from common sense concepts to location based entities. This knowledge graph should be "open to the public" in a FAIR manner democratizing this mass amount of knowledge." Although linked open data (LOD) is one knowledge graph, it is the closest realisation (and probably the only one) to a public FAIR Knowledge Graph (KG) of everything. Surely, LOD provides a unique testbed for experimenting and evaluating research hypotheses on open and FAIR KG. One of the most neglected FAIR issues about KGs is their ongoing evolution and long term preservation. We want to investigate this problem, that is to understand what preserving and supporting the evolution of KGs means and how these problems can be addressed. Clearly, the problem can be approached from different perspectives and may require the development of different approaches, including new theories, ontologies, metrics, strategies, procedures, etc. This document reports a collaborative effort performed by 9 teams of students, each guided by a senior researcher as their mentor, attending the International Semantic Web Research School (ISWS 2019). Each team provides a different perspective to the problem of knowledge graph evolution substantiated by a set of research questions as the main subject of their investigation. In addition, they provide their working definition for KG preservation and evolution

Ethics in the flesh: formalizing moral values in embodied cognition

Values are beliefs or principles that are deemed significant or desirable within a specific society or culture, serving as the fundamental underpinnings for ethical and socio-behavioral norms. The objective of this research is to explore the domain encompassing moral, cultural, and individual values. To achieve this, we employ an ontological approach to formally represent the semantic relations within the value domain. The theoretical framework employed adopts Fillmore’s frame semantics, treating values as semantic frames. A value situation is thus characterized by the co-occurrence of specific semantic roles fulfilled within a given event or circumstance. Given the intricate semantics of values as abstract entities with high social capital, our investigation extends to two interconnected domains. The first domain is embodied cognition, specifically image schemas, which are cognitive patterns derived from sensorimotor experiences that shape our conceptualization of entities in the world. The second domain pertains to emotions, which are inherently intertwined with the realm of values. Consequently, our approach endeavors to formalize the semantics of values within an embodied cognition framework, recognizing values as emotional-laden semantic frames. The primary ontologies proposed in this work are: (i) ValueNet, an ontology network dedicated to the domain of values; (ii) ISAAC, the Image Schema Abstraction And Cognition ontology; and (iii) EmoNet, an ontology for theories of emotions. The knowledge formalization adheres to established modeling practices, including the reuse of semantic web resources such as WordNet, VerbNet, FrameNet, DBpedia, and alignment to foundational ontologies like DOLCE, as well as the utilization of Ontology Design Patterns. These ontological resources are operationalized through the development of a fully explainable frame-based detector capable of identifying values, emotions, and image schemas generating knowledge graphs from from natural language, leveraging the semantic dependencies of a sentence, and allowing non trivial higher layer knowledge inferences

WhoLoDancE: Deliverable 3.5 - Report on data-driven and model-driven analysis methodologies

This deliverable summarizes the description of the development of techniques adopted for multimodal analysis of dance at both individual and group levels, data-driven, and model-driven analysis. Section 1 introduces the report and lists its objectives whereas Section 2 refers to the methodology employed in the data-driven approach. Section 3 provides an overview of developed model-driven approaches to extract movement dimensions related to the dance-learning scenario: from low-level model-based movement dimension to more complex intra- and inter- network related methodologies, including a technique to automatically segment dance sequences in meaningful chunks

Quality of life in chronic ketogenic diet treatment: she GLUT1DS population perspective

Background: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare, genetically determined neurological disorder, for which Ketogenic Diet (KD) represents the gold standard life-long treatment. The aim of this study is to investigate health related quality of life in a well characterized cohort of patients affected by GLUT1DS treated with KD, evaluating factors that can influence patients' and parents' quality of life perception. Methods: This is a double center exploratory research study. A postal survey with auto-administrable questionnaires was conducted among 17 subjects (aged 3-22 years) with diagnosis of GLUT1DS, receiving a stable KD treatment for more than 1 year. The Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales was adopted. Clinical variables analyzed in relation to quality of life were frequency of epileptic seizures and movement disorder since KD introduction, presence of intellectual disability (ID), and KD ratio. Results: Quality of life global scores were impaired both in parents' and children's perspectives, with a significant concordance. Taking into consideration subscales, the average was 64.17 (range 10-100) for physical functioning, 74.23 (range 30-100) for emotional functioning, 62.64 (range 10-100) for social functioning, and 56 (range 15-92) for school functioning. Conclusions: In patients with GLUT1DS the quality of life perception is comparable to that of other patients with chronic disease. In our sample, the presence of movement disorder seems to be a crucial element in quality of life perception