Publications associées à Handicap mental

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...

BMC2024

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

Nicolas Jean Philippe Guex

GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, i ...

2023

Human-machine interface for two-dimensional steering control with the auricular muscles

Silvestro Micera, Solaiman Shokur, Daniel Jose Lins Leal Pinheiro

Human-machine interfaces (HMIs) can be used to decode a user's motor intention to control an external device. People that suffer from motor disabilities, such as spinal cord injury, can benefit from the uses of these interfaces. While many solutions can be ...

FRONTIERS MEDIA SA2023

A mirror therapy system using virtual reality and an actuated exoskeleton for the recovery of hand motor impairments: a study of acceptability, usability, and embodiment

Luca Randazzo, Antonio Paolillo

Hand motor impairments are one of the main causes of disabilities worldwide. Rehabilitation procedures like mirror therapy are given crucial importance. In the traditional setup, the patient moves the healthy hand in front of a mirror; the view of the mirr ...

Nature Portfolio2023

Combination of Neurotechnologies Towards Personalized Neurorehabilitation for Stroke Patients

Claudia Bigoni

"Ensure healthy lives and promote well-being for all at all ages" is the third sustainable development goal for the United Nations Agenda of 2030. This doctoral thesis fully embodied this objective by targeting stroke, a leading cause of death and disabili ...

EPFL2023

Corpus callosum structural characteristics in very preterm children and adolescents: Developmental trajectory and relationship to cognitive functioning

Dimitri Nestor Alice Van De Ville, Lorena Gonçalves de Alcântara e Freitas Krikler, Vanessa Siffredi

Previous studies suggest that structural alteration of the corpus callosum, i.e., the largest white matter commissural pathway, occurs after a preterm birth in the neonatal period and lasts across development. The present study aims to unravel corpus callo ...

ELSEVIER SCI LTD2023

Robust Distributed Learning: Tight Error Bounds and Breakdown Point under Data Heterogeneity

Rachid Guerraoui, Youssef Allouah, Geovani Rizk, Nirupam Gupta, Rafaël Benjamin Pinot

The theory underlying robust distributed learning algorithms, designed to resist adversarial machines, matches empirical observations when data is homogeneous. Under data heterogeneity however, which is the norm in practical scenarios, established lower bo ...

2023

Impact of adherence to a lifestyle-integrated programme on physical function and behavioural complexity in young older adults at risk of functional decline: a multicentre RCT secondary analysis

Kamiar Aminian, Anisoara Ionescu

Context Long-term adherence to physical activity (PA) interventions is challenging. The Lifestyle-integrated Functional Exercise programmes were adapted Lifestyle-integrated Functional Exercise (aLiFE) to include more challenging activities and a behaviour ...

BMJ PUBLISHING GROUP2022

Daily Contributors of Tinnitus Loudness and Distress: An Ecological Momentary Assessment Study

Patrick Karl Alois Neff

BackgroundTinnitus is a heterogeneous condition which may be associated with moderate to severe disability, but the reasons why only a subset of individuals is burdened by the condition are not fully clear. Ecological momentary assessment (EMA) allows a be ...

FRONTIERS MEDIA SA2022

The Paris/Geneva Divide. A Network Analysis of the Archives of the International Committee on Intellectual Cooperation of the League of Nations

The International Committee on Intellectual Cooperation (ICIC) is often framed as a step in the constitution of a “League of Minds” – a place where scientists and writers reign, and a necessary part of a successful and harmonious “League of Nations” – but ...

De Gruyter2022

A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism

Maria del Carmen Sandi Perez, Cristina Ramona Cudalbu, Jocelin Grosse, Dunja Simicic

Creatine is an organic compound used as fast phosphate energy buffer to recycle ATP, important in tissues with high energy demand such as muscle or brain. Creatine is taken from the diet or endogenously synthetized by the enzymes AGAT and GAMT, and specifi ...

Nature Research2021

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum

Alessandro Borghesi

PUS3 encodes the pseudouridylate synthase 3, an enzyme catalyzing the formation of tRNA pseudouridine, which plays a critical role in tRNA structure, function, and stability. Biallelic pathogenic variants of PUS3 have been previously associated with severe ...

WILEY2022

Altered anterior default mode network dynamics in progressive multiple sclerosis

Dimitri Nestor Alice Van De Ville, Maria Giulia Preti, Anjali Bagunu Tarun, Giulia Bommarito, Younes Farouj

Background: Modifications in brain function remain relatively unexplored in progressive multiple sclerosis (PMS), despite their potential to provide new insights into the pathophysiology of the disease at this stage. Objectives: To characterize the dynamic ...

SAGE PUBLICATIONS LTD2021

Advanced Neurotechnologies for the Restoration of Motor Function

Silvestro Micera, Friedhelm Christoph Hummel

Stroke is one of the leading causes of long-term disability. Advanced technological solutions ("neurotechnologies'') exploiting robotic systems and electrodes that stimulate the nervous system can increase the efficacy of stroke rehabilitation. Recent stud ...

2020

Hand exoskeleton device

José del Rocio Millán Ruiz, Luca Randazzo

The invention relates to a hand exoskeleton device having a modular nature. The device is designed to be wearable, portable and light in weight, and comprises from one to ten modules each having an actuating mechanism such as a linear actuator coupled with ...

2019

Lean synthesis and application to lower-limb exoskeletons

Tristan Hubert Vouga

Mobility impairments are the most prevalent of all disabilities, affecting the life of nearly one in 20 individuals in developed countries. In the most severe cases, they can have dramatic consequences for the social, mental and physical well-being of thos ...

EPFL2019

The Connection Between the Nervous System and Machines: Commentary

Giacomo Valle

Decades of technological developments have populated the field of brain-machine interfaces and neuroprosthetics with several replacement strategies, neural modulation treatments, and rehabilitation techniques to improve the quality of life for patients aff ...

2019

Wearable technology in stroke rehabilitation: towards improved diagnosis and treatment of upper-limb motor impairment

Friedhelm Christoph Hummel, Pablo Maceira Elvira, Traian Popa, Anne-Christine Schmid

Stroke is one of the main causes of long-term disability worldwide, placing a large burden on individuals and society. Rehabilitation after stroke consists of an iterative process involving assessments and specialized training, aspects often constrained by ...

BioMed Central2019

Brain-spine interface technologies to alleviate gait deficits after Parkinson's disease

Flavio Raschella

Gait and balance deficits are motor disabilities that typically develop late in the progression of Parkinson's disease (PD). These deficits are thought to be the result of dysregulated neural activity in the cortico-basal ganglia-thalamic-cortical motor lo ...

EPFL2019

The role of somatosensory feedback for brain-machine interfaces applications

Tiffany Corbet

Brain-machine interfaces (BMI) based on motor imagery (MI) have emerged as a promising approach to enhance motor skills and restore motor functions. However, the efficacy and efficiency of BMI systems remain limited. The current lack of usability can be ex ...

EPFL2019