Publications associées à Autisme infantile

The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation

Genes implicated in translation control have been associated with autism spectrum disorders (ASDs). However, some important genetic causes of autism, including the 16p11.2 microdeletion, bear no obvious connection to translation. Here, we use proteomics, g ...

Amer Assoc Advancement Science2024

Embedded figures in schizophrenia: A main deficit but no specificity

Michael Herzog, Maya Roinishvili, Ophélie Gladys Favrod, Michel Akselrod

Visual deficits are core deficits of schizophrenia. Classically, deficits are determined with demanding psychophysical tasks requiring fine-grained spatial or temporal resolution. Less is known about holistic processing. Here, we employed the Leuven Embedd ...

2022

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

Effects of eight neuropsychiatric copy number variants on human brain structure

Bogdan Draganski, Lester Melie Garcia, Borja Rodriguez Herreros, Kuldeep Kumar, Claudia Modenato

Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing ...

SPRINGERNATURE2021

Ultrahigh field in vivo characterization of microstructural abnormalities in the orbitofrontal cortex and amygdala in autism

Elda Fischi Gomez, Cristina Granziera, Nouchine Hadjikhani, Guillaume Bonnier

There are currently no biomarkers for autism spectrum disorder (ASD). This neurodevelopmental condition has previously been associated with histopathological findings, including increased neuronal packing density in the amygdala, abnormal laminar cytoarchi ...

2021

A Graph Signal Processing Framework for the Classification of Temporal Brain Data

Ntorina Thanou, Sarah Itani

Graph Signal Processing (GSP) addresses the analysis of data living on an irregular domain which can be modeled with a graph. This capability is of great interest for the study of brain connectomes. In this case, data lying on the nodes of the graph are co ...

IEEE2020

Development and application of dynamic functional connectivity methods to elucidate the neural underpinnings of human behaviour with functional magnetic resonance imaging

Thomas William Arthur Bolton

Human behaviour is exquisitely complex, because it is staggeringly multi-facetted and subtly varies across individuals. Characterising its yet incompletely understood underlying biological mechanisms has profound clinical implications. Here, our goal was t ...

EPFL2020

Electrophysiological correlates of visual backward masking in the schizophrenia continuum

Ophélie Gladys Favrod

In visual backward masking (VBM), a target is followed by a mask. Over the past decade, a VBM task, called the Shine-Through paradigm (ST), has been shown to be a very sensitive endophenotype of schizophrenia. In the present thesis, the electrophysiologica ...

EPFL2019

Exploring the Extent in the Visual Field of the Honeycomb and Extinction Illusions

Michael Herzog, Aline Françoise Cretenoud

There are situations in which what is perceived in central vision is different to what is perceived in the periphery, even though the stimulus display is uniform. Here, we studied two cases, known as the Extinction illusion and the Honeycomb illusion, invo ...

2019

Consensus Paper: Experimental Neurostimulation of the Cerebellum

Traian Popa

The cerebellum is best known for its role in controlling motor behaviors. However, recent work supports the view that it also influences non-motor behaviors. The contribution of the cerebellum towards different brain functions is underscored by its involve ...

Springer2019

Building a Question-Answering Chatbot using Forum Data in the Semantic Space

Pierre Dillenbourg, Marc Laperrouza, Khalil Mrini

We build a conversational agent which knowledge base is an online forum for parents of autistic children. We collect about 35,000 threads totalling some 600,000 replies, and label 1% of them for usefulness using Amazon Mechanical Turk. We train a Random Fo ...

2018

Diffusion-weighted imaging evidence of altered white matter development from late childhood to early adulthood in Autism Spectrum Disorder

Djalel Eddine Meskaldji, Fikret Isik Karahanoglu

Autism Spectrum Disorder (ASD) is thought to reflect disrupted development of brain connectivity characterized by white matter abnormalities and dyscoordination of activity across brain regions that give rise to core features. But there is little consensus ...

2018

Case-Control Discrimination Through Effective Brain Connectivity

Luca Dodero

Functional and structural connectivity convey different information about the brain. The integration of these different approaches is receiving growing attention from the research community, as it can shed new light on brain functions. This manuscript prop ...

Ieee2017

Is functional brain connectivity atypical in autism? A systematic review of EEG and MEG studies

Christian O'Reilly

Background Although it is well recognized that autism is associated with altered patterns of over-and under-connectivity, specifics are still a matter of debate. Little has been done so far to synthesize available literature using whole-brain electroenceph ...

Public Library of Science2017

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

Nouchine Hadjikhani, Bogdan Draganski, Loyse Hippolyte, Borja Rodriguez Herreros

BACKGROUND: Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and schizophrenia. Beyond language and global cognition, neuropsychological assessments of thes ...

Elsevier Science Inc2016

Predictable enriched environment prevents development of hyper-emotionality in the VPA rat model of autism

Henry Markram, Julie Meystre, Deborah La Mendola, Kamila Markram, Mônica Regina Favre, Melissa Cochrane, Dimitri Marco Christodoulou

Understanding the effects of environmental stimulation in autism can improve therapeutic interventions against debilitating sensory overload, social withdrawal, fear and anxiety. Here, we evaluate the role of environmental predictability on behavior and pr ...

Frontiers Research Foundation2015

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

Nouchine Hadjikhani, Loyse Hippolyte

Anatomical structures and mechanisms linking genes to neuropsychiatric disorders are not deciphered. Reciprocal copy number variants at the 16p11.2 BP4-BP5 locus offer a unique opportunity to study the intermediate phenotypes in carriers at high risk for a ...

Nature Publishing Group2015

Improving emotional face perception in autism with diuretic bumetanide: A proof-of-concept behavioral and functional brain imaging pilot study

Nouchine Hadjikhani, Loyse Hippolyte, Ophélie Rogier, Torsten Ruest

Clinical observations have shown that GABA-acting benzodiazepines exert paradoxical excitatory effects in autism, suggesting elevated intracellular chloride (Cl-)(i) and excitatory action of GABA. In a previous double-blind randomized study, we have shown ...

Sage Publications Ltd2015

Emotional contagion for pain is intact in autism spectrum disorders

Nouchine Hadjikhani, Loyse Hippolyte, Ophélie Rogier, Torsten Ruest

Perceiving others in pain generally leads to empathic concern, consisting of both emotional and cognitive processes. Empathy deficits have been considered as an element contributing to social difficulties in individuals with autism spectrum disorders (ASD) ...

Nature Publishing Group2014

A Wearable Camera Detects Gaze Peculiarities during Social Interactions in Young Children with Pervasive Developmental Disorders

Aude Billard, Basilio Noris, Patrick Jermann, Silvia Magrelli

We report on the study of gazes, conducted on children with pervasive developmental disorders (PDD), by using a novel head-mounted eye-tracking device called the WearCam. Due to the portable nature of the WearCam, we are able to monitor naturalistic intera ...

Ieee-Inst Electrical Electronics Engineers Inc2014