Publications associées à Causes de l'autisme

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

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

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

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

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

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

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

Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome

Jean-Philippe Thiran, Meritxell Bach Cuadra, Marie Schaer, Maude Schneider

Children with congenital heart disease (CHD) who survive surgery often present impaired neurodevelopment and qualitative brain anomalies. However, the impact of CHD on total or regional brain volumes only received little attention. We address this question ...

2010

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