Concept

Héritabilité de l'autisme

Publications associées (27)

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 Feeling of Me Feeling for You: Interoception, Alexithymia and Empathy in Autism

Bruno Herbelin, Jane Aspell

Following recent evidence for a link between interoception, emotion and empathy, we investigated relationships between these factors in autism spectrum disorder (ASD). 26 adults with ASD and 26 healthy participants completed tasks measuring interoception, ...

2018

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Bart Deplancke, Marion Leleu, Nele Gheldof, Loyse Hippolyte

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with ...

Springer Nature2017

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

Bogdan Draganski, Nouchine Hadjikhani, 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, Dimitri Marco Christodoulou, Melissa Cochrane

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

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