Publications associées à Developmental disability

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

Development and clinical validation of computational imaging biomarkers for neurodegenerative diseases

Veronica Lily Ravano

Neurodegenerative and neuroinflammatory disorders often involve complex pathophysiological mechanisms that are â to this date â only partially understood. A more comprehensive understanding of those microstructural processes and their characterization ...

EPFL2024

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

Prediction of post-stroke motor recovery benefits from measures of sub-acute widespread network damages

Dimitri Nestor Alice Van De Ville, Maria Giulia Preti, Elvira Pirondini, Cyprien Alban Félicien Rivier

Rivier et al. report that global measures of brain connectivity estimated by introducing virtual lesions in healthy structural connectomes significantly increase the accuracy of motor recovery prediction in stroke patients when added to focal and clinical ...

OXFORD UNIV PRESS2023

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

A developmental shift in habituation to pain in human neonates

Sofia Charlotta Olhede, Laura Jones

Habituation to recurrent non-threatening or unavoidable noxious stimuli is an important aspect of adaptation to pain. Neonates, especially if preterm, are exposed to repeated noxious procedures during their clinical care. They can mount strong behavioral, ...

CELL PRESS2023

Wearable Robotics for Impaired Upper-Limb Assistance and Rehabilitation: State of the Art and Future Perspectives

Silvestro Micera

Despite more than thirty-five years of research on wearable technologies to assist the upper-limb and a multitude of promising preliminary results, the goal of restoring pre-impairment quality of life of people with physical disabilities has not been fully ...

IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC2022

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