Publications related to Autism rights movement

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

Individual differences in sensory sensitivity: Further lessons from an Autism model

Henry Markram, Kamila Markram, Mônica Regina Favre

In this commentary, we join Ward (this issue) in the usefulness of conceptualizing neural output in terms of signal and noise relationships, to create the missing links between neural, behavioral and subjective sensory sensitivity. We draw from our work in ...

ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD2019

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

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

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

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

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

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

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

General developmental health in the VPA-rat model of autism

Henry Markram, Kamila Markram, Georges Khazen, Mônica Regina Favre

Autism is a neurodevelopmental condition diagnosed by impaired social interaction, abnormal communication and, stereotyped behaviors. While post-mortem and imaging studies have provided good insights into the neurobiological symptomology of autism, animal ...

Frontiers Research Foundation2013

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

The intense world theory - a unifying theory of the neurobiology of autism

Henry Markram, Kamila Markram

Autism covers a wide spectrum of disorders for which there are many views, hypotheses and theories. Here we propose a unifying theory of autism, the Intense World Theory. The proposed neuropathology is hyper-functioning of local neural microcircuits, best ...

2010

Enhanced long-term microcircuit plasticity in the valproic Acid animal model of autism

Henry Markram, Kamila Markram, Tania Rinaldi, Jean-Vincent Le Bé, Imad Riachi, Guilherme Silva

A single intra-peritoneal injection of valproic acid (VPA) on embryonic day (ED) 11.5 to pregnant rats has been shown to produce severe autistic-like symptoms in the offspring. Previous studies showed that the microcircuitry is hyperreactive due to hyperco ...

2009

WearCam: A head mounted wireless camera for monitoring gaze attention and for the diagnosis of developmental disorders in young children

Aude Billard, Basilio Noris, Olivier Barbey

Autism covers a large spectrum of disorders that affect the individual’s way of interacting socially and is often revealed by the individual’s lack of interest in gazing at human faces. Currently Autism is diagnosed in children no younger than 2 years old. ...

2007

The role of the amygdala in emotional memories : a multidisciplinary approach

Maria del Carmen Sandi Perez, Kamila Markram

This thesis investigates the role of the amygdala for the establishment of fear memories with a multidisciplinary approach, including behavioural, psychopharmacological, genetic, molecular, and electrophysiological techniques in rats or mice, under healthy ...

EPFL2007

The intense world syndrome – an alternative hypothesis for autism

Henry Markram, Kamila Markram, Tania Rinaldi

Autism is a devastating neurodevelopmental disorder with a polygenetic predisposition that seems to be triggered by multiple environmental factors during embryonic and/or early postnatal life. While significant advances have been made in identifying the ne ...

2007

Altered neocortical microcircuitry in the valproic acid rat model of autism

Tania Rinaldi

Autism is a wide-spectrum disorder with early childhood onset, affecting general cognitive capabilities and, in particular, complex information processing. Although interesting directions of research start to appear, the precise causes of the disorder and ...

EPFL2006