Developmental disability

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Daily Contributors of Tinnitus Loudness and Distress: An Ecological Momentary Assessment Study

Patrick Karl Alois Neff

BackgroundTinnitus is a heterogeneous condition which may be associated with moderate to severe disability, but the reasons why only a subset of individuals is burdened by the condition are not fully clear. Ecological momentary assessment (EMA) allows a be ...

FRONTIERS MEDIA SA2022

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

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum

Alessandro Borghesi

PUS3 encodes the pseudouridylate synthase 3, an enzyme catalyzing the formation of tRNA pseudouridine, which plays a critical role in tRNA structure, function, and stability. Biallelic pathogenic variants of PUS3 have been previously associated with severe ...

WILEY2022

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

“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

Altered anterior default mode network dynamics in progressive multiple sclerosis

Dimitri Nestor Alice Van De Ville, Maria Giulia Preti, Anjali Bagunu Tarun, Giulia Bommarito, Younes Farouj

Background: Modifications in brain function remain relatively unexplored in progressive multiple sclerosis (PMS), despite their potential to provide new insights into the pathophysiology of the disease at this stage. Objectives: To characterize the dynamic ...

SAGE PUBLICATIONS LTD2021

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

Mechanisms of Plasma-Seed Treatments as a Potential Seed Processing Technology

Ivo Furno, Alan Howling, Alexandra Waskow

Plasma treatments are currently being assessed as a seed processing technology for agricultural purposes where seeds are typically subjected to pre-sowing treatments to improve the likelihood of timely and uniform germination. The aim of this review is to ...

2021

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

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