Publications related to Developmental disorder

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, i ...

2023

Loss of Motor Cortical Inputs to the Red Nucleus after CNS Disorders in Nonhuman Primates

Simon Borgognon

The premotor (PM) and primary motor (M1) cortical areas broadcast voluntary motor commands through multiple neuronal pathways, including the corticorubral projection that reaches the red nucleus (RN). However, the respective contribution of M1 and PM to co ...

SOC NEUROSCIENCE2023

CDKL5 sculpts functional callosal connectivity to promote cognitive flexibility

Valerio Zerbi

Functional and structural connectivity alterations in short- and long-range projections have been reported across neurodevelopmental disorders (NDD). Interhemispheric callosal projection neurons (CPN) represent one of the major long-range projections in th ...

SPRINGERNATURE2023

The CT-cube: A framework for the design and the assessment of computational thinking activities

Francesco Mondada, Laila Abdelsalam El-Hamamsy, Alberto Piatti

Computational thinking is a fundamental competence that is being introduced in K-12 and succeeding curricula worldwide. Despite this huge effort, many computational thinking models in the literature do not explicitly take into consideration the pupils’ age ...

2022

“It Is Not the Robot Who Learns, It Is Me.” Treating Severe Dysgraphia Using Child–Robot Interaction

Pierre Dillenbourg, Thibault Lucien Christian Asselborn, Wafa Monia Benkaouar Johal, David Cohen

Writing disorders are frequent and impairing. However, social robots may help to improve children's motivation and to propose enjoyable and tailored activities. Here, we have used the Co-writer scenario in which a child is asked to teach a robot how to wri ...

2021

Structural control energy of resting-state functional brain states reveals less cost-effective brain dynamics in psychosis vulnerability

Dimitri Nestor Alice Van De Ville, Marie Schaer

How the brain's white-matter anatomy constrains brain activity is an open question that might give insights into the mechanisms that underlie mental disorders such as schizophrenia. Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental dis ...

Wiley2021

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

Molecular architecture of the developing mouse brain

Gioele La Manno, Alex Russell Lederer, Irina Khven

The mammalian brain develops through a complex interplay of spatial cues generated by diffusible morphogens, cell-cell interactions and intrinsic genetic programs that result in probably more than a thousand distinct cell types. A complete understanding of ...

NATURE PORTFOLIO2021

Identifying neurodevelopmental anomalies of white matter microstructure associated with high risk for psychosis in 22q11.2DS

Maude Schneider, Daniela Maria Zöller, Marie Schaer, Maria Carmela Padula

Disruptions of white matter microstructure have been widely reported in schizophrenia. However, the emergence of these alterations during preclinical stages remains poorly understood. 22q11.2 Deletion Syndrome (22q11.2DS) represents a unique model to study ...

SPRINGERNATURE2020

Automated phenotyping of Caenorhabditis elegans embryos with a high-throughput-screening microfluidic platform

Martinus Gijs, Matteo Cornaglia, Raphaël Etienne Jean Trouillon, Hüseyin Baris Atakan, Tunç Alkanat

The nematode Caenorhabditis elegans has been extensively used as a model multicellular organism to study the influence of osmotic stress conditions and the toxicity of chemical compounds on developmental and motility-associated phenotypes. However, the sev ...

2020

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

Dynamic organization of human brain function and its relevance for psychosis vulnerability

Daniela Maria Zöller

The brain is the substrate of a complex dynamic system providing a remarkably varied range of functionalities, going from simple perception to higher-level cognition. Disturbances in its complex dynamics can cause an equally vast variety of mental disorder ...

EPFL2019

Life-history trade-offs and limitations associated with phenotypic adaptation under future ocean warming and elevated salinity

Emma Mary Gibbin, Félix Christen

Little is known about the life-history trade-offs and limitations, and the physiological mechanisms that are associated with phenotypic adaptation to future ocean conditions. To address this knowledge gap, we investigated the within-and trans-generation li ...

ROYAL SOC2019

Co-expression of CCT subunits hints at TRiC assembly

Oksana Andrei Sergeeva

The eukaryotic cytosolic chaperonin, t-complex polypeptide 1 (TCP-1) ring complex or TRiC, is responsible for folding a tenth of the proteins in the cell. TRiC is a double-ringed barrel with each ring composed of eight different CCT (chaperonin containing ...

2019

Automated human-level diagnosis of dysgraphia using a consumer tablet

Pierre Dillenbourg, Thibault Lucien Christian Asselborn, Wafa Monia Benkaouar Johal, Lukasz Kidzinski, David Cohen, Thomas Dany Sylvain Gargot

The academic and behavioral progress of children is associated with the timely development of reading and writing skills. Dysgraphia, characterized as a handwriting learning disability, is usually associated with dyslexia, developmental coordination disord ...

2018

Glycosphingolipid metabolism in cell fate specification

Giovanni D'Angelo, Laura Capolupo, Jaipreet Singh Loomba

Glycosphingolipids (GSLs) are ubiquitous components of eukaryotic plasma membranes that consist of a ceramide backbone linked to a glycan moiety. Both the ceramide and the glycan parts of GSLs display structural variations that result in a remarkable reper ...

2018

Amygdala GluN2B-NMDAR dysfunction is critical in abnormal aggression of neurodevelopmental origin induced by St8sia2 deficiency

Graham Knott, Maria del Carmen Sandi Perez, Johannes Gräff, Jocelin Grosse, Olivia Zanoletti, Simone Astori, Elias Georges Gebara, Jose Vicente Sanchez Mut, Catherine Maclachlan, Wei Tang, Bianca Ambrogina Silva, Alexandre Claude Gustave Bacq

Aggression is frequently observed in neurodevelopmental psychiatric disorders such as schizophrenia, autism, and bipolar disorder. Due to a lack of understanding of its underlying mechanisms, effective treatments for abnormal aggression are still missing. ...

2020

Bioconversion of pentose sugars to value added chemicals and fuels: Recent trends, challenges and possibilities

Edgard Gnansounou, Vinod Kumar

Most of the crop plants contain about 30% of hemicelluloses comprising D-xylose and D-arabinose. One of the major limitation for the use of pentose sugars is that high purity grade D-xylose and D-arabinose are yet to be produced as commodity chemicals. Res ...

Elsevier2018

The link between aberrant hypothalamic-pituitary-adrenal axis activity during development and the emergence of aggression-Animal studies

Maria del Carmen Sandi Perez, Damien Sébastien Huzard, Sophie Elizabeth Walker

Aggressive behavior is not uniform, including proactive and reactive forms of aggression. Aberrant functioning of the hypothalamic-pituitary-adrenal (HPA) axis is frequently associated with abnormal aggression. Here, we review the rodent literature in orde ...

2018

RETRACTED: Water hyacinth a potential source for value addition: An overview

Edgard Gnansounou

Water hyacinth a fresh water aquatic plant is considered as a noxious weed in many parts of the world since it grows very fast and depletes nutrients and oxygen from water bodies adversely affecting the growth of both plants and animals. Hence conversion o ...

Elsevier2017