scholarly journals Contribution to the Discovery of a Novel Medicine for a Neuromuscular Disease and of other Promising Molecules for the Treatment of Neurodevelopmental and Neurodegenerative Diseases

2021 ◽  
Vol 75 (7) ◽  
pp. 614-619
Author(s):  
Hasane Ratni
Keyword(s):  
Autism Spectrum Disorder ◽  
Nervous System ◽  
Motor Neuron ◽  
Neuromuscular Disease ◽  
Muscular Atrophy ◽  
Autism Spectrum ◽  
Live Births ◽  
The Third ◽  
The World ◽  
Survival Of Motor Neuron

Nervous system disorders affect millions of people around the world, through a very broad range of diseases. Here we describe our contribution to find a treatment for patients suffering from three of those diseases. The first one, autism spectrum disorder (ASD), affects approximately one in every 59 children in US. The second one, spinal muscular atrophy (SMA) is a rare disease affecting 1 in 10000 live births worldwide, often leading to death if untreated. The third one, Alzheimer's disease (AD) is a very well known devastating disease with an estimated 50 million people living with AD and other dementia, a number expected to triple by 2050. Our strategy to address those diseases was directed towards the discovery of a selective vasopressin 1a (V1a) antagonist for ASD, a splicing modifier of the survival of motor neuron 2 (SMN2) for SMA, and finally a γ-secretase modulator (GSM) for AD. In the frame of our GSM project, we also reported the discovery of a bridge piperidine moiety as a bioisostere for a phenyl moiety with an improved drug-like profile.

scholarly journals Interaction between the small‐nuclear‐RNA cap hypermethylase and the spinal muscular atrophy protein, survival of motor neuron

EMBO Reports ◽  
2003 ◽  
Vol 4 (6) ◽  
pp. 616-622 ◽  
Author(s):  
John Mouaikel ◽  
Usha Narayanan ◽  
Céline Verheggen ◽  
A Gregory Matera ◽  
Edouard Bertrand ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Small Nuclear Rna ◽  
Nuclear Rna ◽  
Survival Of Motor Neuron

scholarly journals Multifaceted roles of microRNAs: From motor neuron generation in embryos to degeneration in spinal muscular atrophy

eLife ◽  
2019 ◽  
Vol 8 ◽  
Author(s):  
Tai-Heng Chen ◽  
Jun-An Chen
Keyword(s):  
Nervous System ◽  
Neurodegenerative Diseases ◽  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Cell Types ◽  
Spinal Motor Neurons ◽  
Potential Applications ◽  
The Central Nervous System

Two crucial questions in neuroscience are how neurons establish individual identity in the developing nervous system and why only specific neuron subtypes are vulnerable to neurodegenerative diseases. In the central nervous system, spinal motor neurons serve as one of the best-characterized cell types for addressing these two questions. In this review, we dissect these questions by evaluating the emerging role of regulatory microRNAs in motor neuron generation in developing embryos and their potential contributions to neurodegenerative diseases such as spinal muscular atrophy (SMA). Given recent promising results from novel microRNA-based medicines, we discuss the potential applications of microRNAs for clinical assessments of SMA disease progression and treatment.

Talentos e Aptidões: Um olhar sobre o Autismo

2021 ◽  
Author(s):  
Jaime Lin
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorders ◽  
Autism Spectrum ◽  
Educational Environment ◽  
Clinical Heterogeneity ◽  
Economic Costs ◽  
The World ◽  
Medical Term ◽  
Patterns Of Behavior ◽  
The Media

Autism is a medical term that encompasses a broad spectrum of neurodevelopmental disorders characterized by impaired reciprocal socialization and communication, often accompanied by restricted or repetitive patterns of behavior and interests. Due to the enlargement in the clinical diagnostic boundaries and the increased awareness of autism spectrum disorder (ASD), the world has seen a dramatic increase in its prevalence during the last two decades. ASD is currently considered one of the most common neurodevelopmental disorders worldwide. Frequently reported in terms of comorbidities, disabilities, burden and economic costs, the talents, gifts and abilities of people within the autistic spectrum only reaches the media when it amazes the audience. In this review, we want show that the high clinical heterogeneity found in autism can also be applied to the gifts and abilities, and that it must be nurtured with appropriate developmental, educational environment and above all, support and hope.

Virtual Reality (VR) for School Children With Autism Spectrum Disorder (ASD)

2019 ◽  
pp. 141-158 ◽  
Author(s):  
Giuliana Guazzaroni ◽  
Anitha S. Pillai
Keyword(s):  
Autism Spectrum Disorder ◽  
Virtual Reality ◽  
School Children ◽  
Teaching And Learning ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Self Awareness ◽  
The World ◽  
Training And Support

Various medical and technological organizations are working on the development of unconventional solutions such as therapy and assistance for people with autism spectrum disorder (ASD). Different organizations, researchers and educators have been involved in the study and realization of virtual reality (VR) solutions to be used as therapy, training, and support for these individuals. Previous researches and experiments showed that it is possible to ameliorate the level of concentration, coordination, socialization, communication, self-awareness, and memory in school children treated with these tools. VR environments may offer a total physical involvement of the ASDs that may see the world through virtual immersion and active practice. This chapter presents a way of rethinking teaching and learning.

scholarly journals Beta-adrenergic antagonism alters functional connectivity during associative processing in a preliminary study of individuals with and without autism

Autism ◽  
2019 ◽  
Vol 24 (3) ◽  
pp. 795-801
Author(s):  
John P Hegarty ◽  
Rachel M Zamzow ◽  
Bradley J Ferguson ◽  
Shawn E Christ ◽  
Eric C Porges ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Nervous System ◽  
Autonomic Nervous System ◽  
Functional Connectivity ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Semantic Fluency ◽  
Beta Adrenergic ◽  
Associative Processing ◽  
The Brain

Beta-adrenergic antagonism (e.g. propranolol) has been associated with cognitive/behavioral benefits following stress-induced impairments and for some cognitive/behavioral domains in individuals with autism spectrum disorder. In this preliminary investigation, we examined whether the benefits of propranolol are associated with functional properties in the brain. Adolescents/adults (mean age = 22.54 years) with (n = 13) and without autism spectrum disorder (n = 13) attended three sessions in which propranolol, nadolol ( beta-adrenergic antagonist that does not cross the blood–brain barrier), or placebo was administered before a semantic fluency task during functional magnetic resonance imaging. Autonomic nervous system measures and functional connectivity between language/associative processing regions and within the fronto-parietal control, dorsal attention, and default mode networks were examined. Propranolol was associated with improved semantic fluency performance, which was correlated with the baseline resting heart rate. Propranolol also altered network efficiency of regions associated with semantic processing and in an exploratory analysis reduced functional differences in the fronto-parietal control network in individuals with autism spectrum disorder. Thus, the cognitive benefits from beta-adrenergic antagonism may be generally associated with improved information processing in the brain in domain-specific networks, but individuals with autism spectrum disorder may also benefit from additional improvements in domain-general networks. The benefits from propranolol may also be able to be predicted from baseline autonomic nervous system measures, which warrants further investigation.

scholarly journals Applications for Children with Autism in Preschool and Primary Education

2019 ◽  
Vol 7 (2) ◽  
pp. 4
Author(s):  
Maria Xanthopoulou ◽  
Gioulina Kokalia ◽  
Athanasios Drigas
Keyword(s):  
Autism Spectrum Disorder ◽  
Primary Education ◽  
Significant Influence ◽  
Mobile Apps ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Diagnostic Tools ◽  
The Third ◽  
Children With Asd ◽  
Different Types

<p>In this article, we decided to focus on applications for children with Autism Spectrum Disorder (ASD) knowing the significant influence of them on those children. Below, we analyze the different types of applications that are available for children with ASD. The applications are presenting, have been categorized in three categories. The first category is Diagnostic Tools, the second is Intervention Tools and the third is generally Mobile Apps. This separation was made to give a clear view about the characteristics and the developmental area each application covers. Finally, the applications have been chosen based on positive reviews, in combined with how many had download and install them, whether they were easy to use and if they responded to what their description said they were providing.</p>

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