Publications related to Heritability of 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

Supporting Therapists’ Assessment in Parent-Mediated Training through Autonomous Data Collection

Daniel Carnieto Tozadore

Parental Training is a methodology where therapists teach caregivers how to train their kids in specific behaviors practicing. It can be used in verbal behavior acquisition for children with autism mediated by the parents. In this paper, we are presenting ...

2022

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

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

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

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

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

Investigating Gaze of Children with ASD in Naturalistic Settings

Aude Billard, Nouchine Hadjikhani, Basilio Noris

Background: Visual behavior is known to be atypical in Autism Spectrum Disorders (ASD). Monitor-based eye-tracking studies have measured several of these atypicalities in individuals with Autism. While atypical behaviors are known to be accentuated during ...

Public Library of Science2012

Measuring Gaze of Children with Autism Spectrum Disorders in Naturalistic Interactions

Aude Billard, Basilio Noris

In this paper, we report on a study on gaze behavior by children with Autism Spectrum Disorder (ASD) during a dyadic interaction in a naturalistic environment. Twelve children with ASD were contrasted to twelve typically developing (TD) children, in a semi ...

Ieee Service Center, 445 Hoes Lane, Po Box 1331, Piscataway, Nj 08855-1331 Usa2011

Serotonin, pregnancy and increased autism prevalence: Is there a link?

Nouchine Hadjikhani

The prevalence of autism, a neurodevelopmental condition resulting from genetic and environmental causes, has increased dramatically during the last decade. Among the potential environmental factors, hyperserotonemia during pregnancy and its effect on brai ...

2010

fMRI activation during a language task in adolescents with ASD

Nouchine Hadjikhani

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by language and communication impairments, social impairments, and repetitive behaviors or restricted interests. Previous Studies of semantic functions have found differences in ...

Cambridge University Press2008

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

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