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

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 CT-cube: A framework for the design and the assessment of computational thinking activities

Francesco Mondada, Laila Abdelsalam El-Hamamsy, Alberto Piatti

Computational thinking is a fundamental competence that is being introduced in K-12 and succeeding curricula worldwide. Despite this huge effort, many computational thinking models in the literature do not explicitly take into consideration the pupils’ age ...

2022

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

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

“It Is Not the Robot Who Learns, It Is Me.” Treating Severe Dysgraphia Using Child–Robot Interaction

Pierre Dillenbourg, Thibault Lucien Christian Asselborn, Wafa Monia Benkaouar Johal, David Cohen

Writing disorders are frequent and impairing. However, social robots may help to improve children's motivation and to propose enjoyable and tailored activities. Here, we have used the Co-writer scenario in which a child is asked to teach a robot how to wri ...

2021

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

Structural control energy of resting-state functional brain states reveals less cost-effective brain dynamics in psychosis vulnerability

Dimitri Nestor Alice Van De Ville, Marie Schaer

How the brain's white-matter anatomy constrains brain activity is an open question that might give insights into the mechanisms that underlie mental disorders such as schizophrenia. Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental dis ...

Wiley2021

Mechanisms of Plasma-Seed Treatments as a Potential Seed Processing Technology

Ivo Furno, Alan Howling, Alexandra Waskow

Plasma treatments are currently being assessed as a seed processing technology for agricultural purposes where seeds are typically subjected to pre-sowing treatments to improve the likelihood of timely and uniform germination. The aim of this review is to ...

2021

Identifying neurodevelopmental anomalies of white matter microstructure associated with high risk for psychosis in 22q11.2DS

Maude Schneider, Daniela Maria Zöller, Marie Schaer, Maria Carmela Padula

Disruptions of white matter microstructure have been widely reported in schizophrenia. However, the emergence of these alterations during preclinical stages remains poorly understood. 22q11.2 Deletion Syndrome (22q11.2DS) represents a unique model to study ...

SPRINGERNATURE2020

Automated phenotyping of Caenorhabditis elegans embryos with a high-throughput-screening microfluidic platform

Martinus Gijs, Matteo Cornaglia, Raphaël Etienne Jean Trouillon, Hüseyin Baris Atakan, Tunç Alkanat

The nematode Caenorhabditis elegans has been extensively used as a model multicellular organism to study the influence of osmotic stress conditions and the toxicity of chemical compounds on developmental and motility-associated phenotypes. However, the sev ...

2020