Publications related to High-functioning autism

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

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

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

Interoception and Empathy Impact Perspective Taking

Olaf Blanke, Bruno Herbelin, Jane Aspell, Lukas Heydrich

Adopting the perspective of another person is an important aspect of social cognition and has been shown to depend on multisensory signals from one's own body. Recent work suggests that interoceptive signals not only contribute to own-body perception and s ...

Frontiers Media2021

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

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

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

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

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

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

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

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

It's All in the Eyes: Subcortical and Cortical Activation during Grotesqueness Perception in Autism

Nouchine Hadjikhani, Loyse Hippolyte, Ophélie Rogier, Britt Russo

Atypical face processing plays a key role in social interaction difficulties encountered by individuals with autism. In the current fMRI study, the Thatcher illusion was used to investigate several aspects of face processing in 20 young adults with high-fu ...

Public Library Science2013

Hyper-emotional neurophysiology in a rat model of autism

Mônica Regina Favre

Autism is a pervasive neurodevelopmental disorder of unknown etiology, characterized by a spectrum of symptoms of social impairment, abnormal communication, and unusual restricted, inflexible behaviors. Patients also frequently present various levels of se ...

EPFL2013

Social orienting of children with autism to facial expressions and speech: a study with a wearable eye-tracker in naturalistic settings

Aude Billard, Basilio Noris, Patrick Jermann, Silvia Magrelli

This study investigates attention orienting to social stimuli in children with Autism Spectrum Conditions (ASC) during dyadic social interactions taking place in real-life settings. We study the effect of social cues that differ in complexity and distingui ...

Frontiers Media2013

Perception of Social Cues of Danger in Autism Spectrum Disorders

Nouchine Hadjikhani, Loyse Hippolyte, Ophélie Rogier, Torsten Ruest, Britt Russo

Intuitive grasping of the meaning of subtle social cues is particularly affected in autism spectrum disorders (ASD). Despite their relevance in social communication, the effect of averted gaze in fearful faces in conveying a signal of environmental threat ...

Public Library Science2013

A randomised controlled trial of bumetanide in the treatment of autism in children

Nouchine Hadjikhani

Gamma aminobutyric acid (GABA)-mediated synapses and the oscillations they orchestrate are altered in autism. GABA-acting benzodiazepines exert in some patients with autism paradoxical effects, raising the possibility that like in epilepsies, GABA excites ...

Nature Publishing Group2012