674 results match your criteria: "Scientific Institute "Eugenio Medea"[Affiliation]"

Instruction-induced modulation of the visual stream during gesture observation.

Neuropsychologia

January 2025

Neuroscience Area, SISSA, Trieste, Italy; Dipartimento di Medicina dei Sistemi, Università di Roma-Tor Vergata, Roma, Italy.

Although gesture observation tasks are believed to invariably activate the action-observation network (AON), we investigated whether the activation of different cognitive mechanisms when processing identical stimuli with different explicit instructions modulates AON activations. Accordingly, 24 healthy right-handed individuals observed gestures and they processed both the actor's moved hand (hand laterality judgment task, HT) and the meaning of the actor's gesture (meaning task, MT). The main brain-level result was that the HT (vs MT) differentially activated the left and right precuneus, the left inferior parietal lobe, the left and right superior parietal lobe, the middle frontal gyri bilaterally and the left precentral gyrus.

View Article and Find Full Text PDF

Multiparametric MRI Assessment of Morpho-Functional Muscle Changes Following a 6-Month FES-Cycling Training Program: Pilot Study in People With a Complete Spinal Cord Injury.

JMIR Rehabil Assist Technol

January 2025

Istituto di Sistemi e Tecnologie Industriali Intelligenti per il Manifatturiero Avanzato, Consiglio Nazionale delle Ricerche, via Alfonso Corti, 12, Milan, 20133, Italy, 39 02 2369 993.

Background: Spinal cord injuries (SCIs) cause debilitating secondary conditions such as severe muscle deterioration, cardiovascular, and metabolic dysfunctions, significantly impacting patients' quality of life. Functional electrical stimulation (FES) combined with cycling exercise (FES-cycling) has shown promise in improving muscle function and health in individuals with SCI.

Objective: This pilot study aimed to investigate the potential role of multiparametric magnetic resonance imaging (MRI) to assess muscle health during and after an FES-cycling rehabilitation program.

View Article and Find Full Text PDF

Although clinically relevant, evidence for a protective effect of early secure attachment against the development of depressive symptoms in adulthood is still inconsistent. This study used a translational approach to overcome this limitation. The analysis of a non-clinical adult population revealed a moderating effect of secure attachment on depressive symptoms in women only.

View Article and Find Full Text PDF

Background: The Special Issue articles describe six systems of parental interventions and developmental care several differences among each of the approaches. Nevertheless, on a deeper level there are profound similarities shared across the six systems. These similarities are at the heart of developmental care in general and parental interventions in particular.

View Article and Find Full Text PDF

Background & Aims: Considerable interest has been recently given to the potential role of the gut-brain axis (GBA) -a two-way communication network between the gut microbiota and the central nervous system- in the pathogenesis of attention-deficit hyperactivity disorder (ADHD), suggesting the potential usefulness of probiotic and synbiotic supplementations. In light of the limited available evidence, synbiotic efficacy in ADHD children not taking medications should be clarified. This study aimed to investigate the efficacy of a synbiotic dietary supplementation on fatty acids levels as well as on microbiota composition, behaviour, cognition, and brain function in children with ADHD.

View Article and Find Full Text PDF

Inclusivity is child's play: pilot study on usability, acceptability and user experience of a sensory-motor PC game for children with cerebral palsy (GiocAbile).

Ital J Pediatr

December 2024

Pediatric Physical Medicine & Rehabilitation Service, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Background: The use of video games in rehabilitation settings is gaining increasing popularity. However, the lack of commercial video games suitable for children with disabilities and the disappointing user experience of serious games limit their applicability. The aim of this study was to assess the usability, acceptability and user experience of GiocAbile, an active video game for children with cerebral palsy (CP).

View Article and Find Full Text PDF
Article Synopsis
  • * Various shape analysis methods, including scalar curvature signatures and advanced computational techniques, were used to evaluate the cortical structures, aiming to enhance predictions of fetal gestational age.
  • * The GSHOT method proved to be the most effective in predicting gestational age, with higher accuracy in neurotypical fetuses compared to pathological ones, thereby offering a sophisticated tool for studying fetal brain development.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Small Complex Rearrangement in -Related Axonal Neuropathy.

Genes (Basel)

November 2024

Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.

Background: Autosomal recessive inherited pathogenetic variants in the histidine triad nucleotide-binding protein 1 () gene are responsible for an axonal Charcot-Marie-Tooth neuropathy associated with neuromyotonia, a phenomenon resulting from peripheral nerve hyperexcitability that causes a spontaneous muscle activity such as persistent muscle contraction, impaired relaxation and myokymias.

Methods: Herein, we describe two brothers in whom biallelic variants were identified following a multidisciplinary approach.

Results: The younger brother came to our attention for clinical evaluation of moderate intellectual disability, language developmental delay, and some behavioral issues.

View Article and Find Full Text PDF

Trofinetide is a first-in-class pharmacological treatment proposed for patients with Rett Syndrome. It is a long half-life derivative of glycine-proline-glutamate, the tripeptide normally excided from Insulin-like Growth Factor 1 upon degradation. Due to containing glutamate and glycine in its structure, trofinetide is thought to act through NMDA receptor modulation, thus providing a normalization of neuronal activity and survival.

View Article and Find Full Text PDF

Neurocognitive dysfunction in adolescents with recent onset major depressive disorder: a cross-sectional comparative study.

Eur Child Adolesc Psychiatry

November 2024

Clinic for Child and Adolescent Psychiatry, Psychotherapy and Psychosomatic Medicine, University Hospital Muenster, Schmeddingstrasse 50, 48149, Muenster, Germany.

The aim of this study was to examine the neurocognitive deficits associated with the first episode of major depressive disorder (recent onset depression, ROD) in adolescents as compared to adult patients. Cross-sectional neurocognitive data from the baseline assessments of the PRONIA study with N = 650 (55.31% females) were analyzed.

View Article and Find Full Text PDF
Article Synopsis
  • Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder caused by mutations in the DMD gene, impacting dystrophin production in muscle tissues, which is important for patient care and treatment development.
  • A study of 943 BMD patients revealed the median age at diagnosis was 7.5 years, with significant findings including that about 13.5% lost mobility by an estimated age of 69, while 30% experienced cardiac issues.
  • Different types of DMD mutations correlated with variations in disease progression, particularly affecting loss of ambulation and heart functionality, highlighting the importance of precise genetic characterization for managing BMD.
View Article and Find Full Text PDF

Effects of Immersive Virtual Reality with Treadmill in Subjects with Rett Syndrome: A Pilot Study.

Children (Basel)

September 2024

Department of Life and Health Sciences, and Health Professions, Link Campus University, Via del Casale di S. Pio V, 44, 00165 Rome, Italy.

Background/objectives: Rett syndrome is a rare neurodevelopmental disorder that can severely affect motor functioning, particularly walking. Previous training programs proposed treadmills as tools to increase walking endurance of patients with Rett syndrome, but these trainings did not include virtual reality (VR). The aim of this study was to assess the feasibility of a short treadmill training coupled to VR in girls with Rett syndrome.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF
Article Synopsis
  • Duchenne muscular dystrophy (DMD) is a muscle-wasting disease that requires additional supportive therapies alongside gene treatments to improve patients' quality of life.
  • Plumbagin, a natural compound similar to vitamin K3, has shown promise in reducing chronic inflammation and improving muscle function in studies conducted on dystrophic fruit flies and mdx mice.
  • The research found that plumbagin enhanced muscle performance and morphology while activating specific pathways to reduce oxidative stress and inflammation, suggesting potential for further exploration as a human therapy.
View Article and Find Full Text PDF

Enhanced motor noise in an autism subtype with poor motor skills.

Mol Autism

September 2024

Laboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems, Istituto Italiano di Tecnologia, Rovereto, Italy.

Background: Motor difficulties are common in many, but not all, autistic individuals. These difficulties can co-occur with other problems, such as delays in language, intellectual, and adaptive functioning. Biological mechanisms underpinning such difficulties are less well understood.

View Article and Find Full Text PDF

Background: Interactive telemedicine applications have been progressively introduced in the assessment of cognitive and literacy skills. However, there is still a lack of research focusing on the validity of this methodology for the neuropsychological assessment of children with Specific Learning Disorder (SLD).

Methods: Seventy-nine children including 40 typically developing children (18 males, age 11.

View Article and Find Full Text PDF

Multisensory mental imagery of fatigue in patients with multiple Sclerosis. Preliminary evidence from a fMRI study.

Neuroimage Clin

September 2024

Clinical Neurology, Azienda Sanitaria Universitaria Friuli Centrale, Presidio Ospedaliero Santa Maria della Misericordia, Udine, Italy; Neurology Unit, Department of Medicine (DMED), University of Udine, Italy.

Fatigue, defined as a subjective lack of physical and/or mental energy, is a clinical symptom highly characterizing multiple sclerosis (MS). The present study utilized a novel approach to the study of fatigue, examining first person-mental imagery of the symptom. Eighteen right-handed patients with MS (14F, 4 M, mean age 45.

View Article and Find Full Text PDF

Investigating the impact of L1 retrotransposons on behavior: A pilot study on young twins.

Schizophr Res

September 2024

Department of Neurosciences and Mental Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

View Article and Find Full Text PDF
Article Synopsis
  • The diagnosis of child and adolescent psychological disorders typically requires a combination of clinical assessments, behavioral checks, medical history, and family context, with new technologies like internet-based questionnaires increasingly being utilized.
  • The study focused on leveraging machine learning (ML) to classify attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) using data collected from parents online, aiming to improve diagnostic precision for families seeking help.
  • Data from 1,688 children and teens suspected of having neurodevelopmental issues were used to create and assess various ML models (like random forest and logistic regression), utilizing an online screening tool designed specifically for these disorders in Italy.
View Article and Find Full Text PDF
Article Synopsis
  • - The AUTS2 gene family includes AUTS2 and FBRSL1, both of which may play roles in neurogenesis and transcription regulation, but FBRSL1's exact function remains unclear despite its relatedness to AUTS2.
  • - A patient with a de novo truncating variant in FBRSL1 exhibited clinical symptoms linked to this genetic alteration, prompting research into how additional genetic factors, including duplications from both parents, might modulate the phenotype.
  • - In-depth analysis combining protein structure predictions and genomic data suggests FBRSL1 could influence neurodevelopment and potentially be involved in distinct clinical syndromes, emphasizing the importance of genetic and epigenetic interactions in understanding these conditions.
View Article and Find Full Text PDF