scholarly journals Williams Syndrome As a Model for Elucidation of the Pathway Genes - the Brain - Cognitive Functions: Genetics and Epigenetics

Acta Naturae ◽  
2014 ◽  
Vol 6 (1) ◽  
pp. 9-22 ◽  
Author(s):  
Е. А. Nikitina ◽  
A. V. Medvedeva ◽  
G. А. Zakharov ◽  
Е. V. Savvateeva-Popova
Keyword(s):  
Simple Model ◽  
Williams Syndrome ◽  
Cognitive Functions ◽  
Single Gene ◽  
Model Systems ◽  
Epigenetic Events ◽  
Simple Model System ◽  
And Behavior ◽  
Brain Behavior ◽  
The Brain

Genomic diseases or syndromes with multiple manifestations arise spontaneously and unpredictably as a result of contiguous deletions and duplications generated by unequal recombination in chromosomal regions with a specific architecture. The Williams syndrome is believed to be one of the most attractive models for linking genes, the brain, behavior and cognitive functions. It is a neurogenetic disorder resulting from a 1.5 Mb deletion at 7q11.23 which covers more than 20 genes; the hemizigosity of these genes leads to multiple manifestations, with the behavioral ones comprising three distinct domains: 1) visuo-spatial orientation; 2) verbal and linguistic defect; and 3) hypersocialisation. The shortest observed deletion leads to hemizigosity in only two genes: eln and limk1. Therefore, the first gene is supposed to be responsible for cardiovascular pathology; and the second one, for cognitive pathology. Since cognitive pathology diminishes with a patients age, the original idea of the crucial role of genes straightforwardly determining the brains morphology and behavior was substituted by ideas of the brains plasticity and the necessity of finding epigenetic factors that affect brain development and the functions manifested as behavioral changes. Recently, non-coding microRNAs (miRs) began to be considered as the main players in these epigenetic events. This review tackles the following problems: is it possible to develop relatively simple model systems to analyze the contribution of both a single gene and the consequences of its epigenetic regulation in the formation of the Williams syndromes cognitive phenotype? Is it possible to use Drosophila as a simple model system?

Validation of an MRI-Based Method for Measuring the Deformation of the Brain During Angular Acceleration

2007 ◽  
Author(s):  
Arash A. Sabet ◽  
Eftyxios Christoforou ◽  
Benjamin Zatlin ◽  
Guy M. Genin ◽  
Philip V. Bayly
Keyword(s):  
Finite Element ◽  
Magnetic Resonance ◽  
Simple Model ◽  
Angular Acceleration ◽  
Model System ◽  
Strain Fields ◽  
Element Simulation ◽  
Simple Model System ◽  
The Brain ◽  
Gel Phantom

A magnetic resonance (MR) method for measuring the deformation of the brain during angular acceleration was validated in a simple model system. Experimentally-derived shear strain patterns in a cylindrical gel “phantom” under angular acceleration were compared to analogous strain fields predicted by finite element simulation.

The Neuropsychiatric View of Brain and Behavior

2001 ◽  
Vol 7 (5) ◽  
pp. 651-652
Author(s):  
Gregory P. Lee
Keyword(s):  
Psychiatric Disorders ◽  
Clinical Psychology ◽  
Valuable Resource ◽  
Behavioral Neurology ◽  
Brain And Behavior ◽  
And Behavior ◽  
Brain Behavior ◽  
The Brain

This volume is an introductory text summarizing much of the brain–behavior literature emphasizing the neuroanatomical underpinnings of psychiatric disorders. Because it has been written by a neuroanatomist and a neuropsychiatrist, much of the material in the book is typically not covered in the more orthodox texts written from a behavioral neurology or neuropsychological perspective. As such, this volume will be a valuable resource for students and practitioners of clinical psychology and psychiatry.

The behavioral neurogenetics of fragile X syndrome: Analyzing gene–brain–behavior relationships in child developmental psychopathologies

2003 ◽  
Vol 15 (4) ◽  
pp. 927-968 ◽  
Author(s):  
ALLAN L. REISS ◽  
CHRISTOPHER C. DANT
Keyword(s):  
Environmental Factors ◽  
Fragile X Syndrome ◽  
Neurodevelopmental Disorders ◽  
Fragile X ◽  
Single Gene ◽  
Structure And Function ◽  
Research Approach ◽  
And Function ◽  
And Behavior ◽  
Brain Behavior

Analyzing gene–brain–behavior linkages in childhood neurodevelopmental disorders, a research approach called “behavioral neurogenetics,” has provided new insights into understanding how both genetic and environmental factors contribute to complex variations in typical and atypical human development. Research into etiologically more homogeneous disorders, such as fragile X syndrome, in particular, allows the use of more precise metrics of genetic risk so that we can more fully understand the complex pathophysiology of childhood onset neurodevelopmental disorders. In this paper, we review our laboratory's behavioral neurogenetics research by examining gene–brain–behavior relationships in fragile X syndrome, a single-gene disorder that has become a well-characterized model for studying neurodevelopmental dysfunction in childhood. Specifically, we examine genetic influences, trajectories of cognition and behavior, variation in brain structure and function, and biological and environmental factors that influence developmental and cognitive outcomes of children with fragile X. The converging approaches across these multilevel scientific domains indicate that fragile X, which arises from disruption of a single gene leading to the loss of a specific protein, is associated with a cascade of aberrations in neurodevelopment, resulting in a central nervous system that is suboptimal with respect to structure and function. In turn, structural and functional brain alterations lead to early disruption in emotion, cognition, and behavior in the child with fragile X. The combination of molecular genetics, neuroimaging, and behavioral research have advanced our understanding of the linkages between genetic variables, neurobiological measures, IQ, and behavior. Our research and that of others demonstrates that neurobehavior and neurocognition, genetics, and neuroanatomy are all different views of the same intriguing biological puzzle, a puzzle that today is rapidly emerging into a more complete picture of the intricate linkages among gene, brain, and behavior in developing children. Understanding the complex multilevel scientific perspective involved in fragile X will also contribute to our understanding of normal development by highlighting developmental events throughout the life span, thereby helping us to delineate the boundaries of pathology.

scholarly journals Functional anomaly mapping reveals local and distant dysfunction caused by brain lesions

2018 ◽  
Author(s):  
Andrew T. DeMarco ◽  
Peter E. Turkeltaub
Keyword(s):  
Normal Tissue ◽  
Brain Lesions ◽  
Direct Measure ◽  
Focal Lesions ◽  
And Behavior ◽  
Brain Behavior ◽  
Lesion Method ◽  
The Brain ◽  
Abnormal Tissue

SummaryThe lesion method has been a cornerstone in the endeavor to understand brain-behavior relationships in humans, but has relied on the flawed assumption that anatomically abnormal tissue functions abnormally and anatomically normal tissue functions normally. To address this longstanding problem, we introduce an approach to directly map the degree of functional anomaly throughout the brain in individual patients. These functional anomaly maps identify anatomical lesions and are stable across measurements. Moreover, the maps identify functionally anomalous regions in anatomically normal tissue, providing a direct measure of remote effects of lesions such as diaschisis. Lesion-behavior mapping using these maps replicates classic behavioral localization and identifies relationships between tissue function and behavior distant from the anatomical lesions. This method provides brain-wide maps of the functional effects of focal lesions, which could have wide implications for one of the most important methods in neuroscience.

There Are No Killer Apps but Connecting Neural Activity to Behavior through Computation Is Still a Good Idea

2016 ◽  
Author(s):  
P. Read Montague
Keyword(s):  
Decision Making ◽  
Cognitive Function ◽  
Simple Model ◽  
Behavioral Economics ◽  
Cognitive Science ◽  
Neural Activity ◽  
Mental States ◽  
And Behavior ◽  
The Relationship ◽  
The Brain

The quest to understand the relationship between neural activity and behavior has been ongoing for well over a hundred years. Although research based on the stimulus-and-response approach to behavior, advocated by behaviorists, flourished during the last century, this view does not, by design, account for unobservable variables (e.g., mental states). Putting aside this approach, modern cognitive science, cognitive neuroscience, neuroeconomics, and behavioral economics have sought to explain this connection computationally. One major hurdle lies in the fact that we lack even a simple model of cognitive function. This chapter sketches an application that connects neuromodulator function to decision making and the valuation that underlies it. The nature of this hypothesized connection offers a fruitful platform to understand some of the informational aspects of dopamine function in the brain and how it exposes many different ways of understanding motivated choice.

Review of Self-regulation of the Brain and Behavior.

1985 ◽  
Vol 30 (12) ◽  
pp. 999-999
Author(s):  
Gerald S. Wasserman
Keyword(s):  
Self Regulation ◽  
Brain And Behavior ◽  
And Behavior ◽  
The Brain

Brain Evidence in Nursing Research: EEG Methodology

2020 ◽  
Vol 10 (1) ◽  
pp. 98-101
Author(s):  
Yueh-O Chuang ◽  
Ren-Jen Hwang
Keyword(s):  
Emotional Health ◽  
Physiological Data ◽  
Evidence Based ◽  
Nursing Research ◽  
Healthy Behaviors ◽  
Alpha Asymmetry ◽  
Role Of Nursing ◽  
Brain Behavior ◽  
Evidence Based Nursing ◽  
The Brain

This aim of the mini-review paper is to introduction the bio-physiologic measures of resting state EEG for nursing scientist. Article specifically addresses the emotional domain as clarified by concepts of brain evidence-based nursing research reviewed that the emotion aspect documented a strong link to frontal brain alpha activities asymmetry.  Extensive nursing research has been performed in emotional, behavioral, and/or psychological matters for healthy and unhealthy populations. Evidence-based nursing can transform the way that data is used to improve health and healthcare. One core role of nursing practice is to promote healthy behaviors. Previous researches have shown out that the brain is the main ambassador of behavioral change. The electroencephalogram (EEG) is an efficient tool to study brain-behavior relations. Evidences show that frontal alpha asymmetry is an important marker suggests that EEG is beneficial for assessment emotional capacities and appraises nursing efficiency. The basic resting alpha frontal asymmetry provides a reliable instrument in conducting nursing researches in order to strengthen the quality of nursing. Furthermore, we provide a viewpoint to show progress in the novel research issue probably for clinical applications. To integrate biological measures in order to gain highly accurate and precise advantages of EEG and beneficial assessment of the emotional capacities are suggested. Nursing promotes healthy behaviors including emotional health. Human behavior changes originate in the brain. EEG enables objective and biological insights into the cognitive process. As a foundation, the neuroscience research requires profound knowledge and tools to analyze bio-physiological data. Creating Cross-disciplinary cooperation must be inevitable alliances to advance nursing research.

Sex Differences in Cognition

2019 ◽  
pp. 41-66
Author(s):  
Elizabeth Hampson
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Sex Differences ◽  
Spatial Cognition ◽  
Sex Steroids ◽  
Cognitive Functions ◽  
Laboratory Animals ◽  
Human Central Nervous System ◽  
The Brain

Organizational and activational effects of sex steroids were first discovered in laboratory animals, but these concepts extend to hormonal actions in the human central nervous system. This chapter begins with a brief overview of how sex steroids act in the brain and how the organizational-activational hypothesis originated in the field of endocrinology. It then reviews common methods used to study these effects in humans. Interestingly, certain cognitive functions appear to be subject to modification by sex steroids, and these endocrine influences may help explain the sex differences often seen in these functions. The chapter considers spatial cognition as a representative example because the spatial family of functions has received the most study by researchers interested in the biological roots of sex differences in cognition. The chapter reviews evidence that supports an influence of both androgens and estrogens on spatial functions, and concludes with a glimpse of where the field is headed.

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