scholarly journals Increased Expression of the PI3K Enhancer PIKE Mediates Deficits in Synaptic Plasticity and Behavior in Fragile X Syndrome

Cell Reports ◽  
2015 ◽  
Vol 11 (5) ◽  
pp. 727-736 ◽  
Author(s):  
Christina Gross ◽  
Chia-Wei Chang ◽  
Seth M. Kelly ◽  
Aditi Bhattacharya ◽  
Sean M.J. McBride ◽  
...  
Keyword(s):  
Synaptic Plasticity ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
And Behavior

scholarly journals Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Tri Indah Winarni ◽  
Andrea Schneider ◽  
Mariya Borodyanskara ◽  
Randi J. Hagerman
Keyword(s):  
Young Children ◽  
Fragile X Syndrome ◽  
Dendritic Spine ◽  
Environmental Enrichment ◽  
Fragile X ◽  
Educational Interventions ◽  
Targeted Treatment ◽  
Pharmacological Intervention ◽  
Cgg Repeats ◽  
And Behavior

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of theFMR1gene leading to gene silencing. Lack of FMRP, a critical protein for dendritic spine formation and maturation, will cause FXS. Early environmental enrichment combined with pharmacological intervention has been proven to rescue dendritic spine abnormalities in the animal model of FXS. Here we report on 2 young children with FXS who were treated early with a combination of targeted treatment and intensive educational interventions leading to improvement in their cognition and behavior and a normal IQ.

scholarly journals Altered Structural and Functional Synaptic Plasticity with Motor Skill Learning in a Mouse Model of Fragile X Syndrome

2013 ◽  
Vol 33 (50) ◽  
pp. 19715-19723 ◽  
Author(s):  
R. Padmashri ◽  
B. C. Reiner ◽  
A. Suresh ◽  
E. Spartz ◽  
A. Dunaevsky
Keyword(s):  
Synaptic Plasticity ◽  
Mouse Model ◽  
Fragile X Syndrome ◽  
Motor Skill ◽  
Fragile X ◽  
Skill Learning ◽  
Motor Skill Learning

scholarly journals Biobehavioral Indicators of Social Fear in Young Children With Fragile X Syndrome

2013 ◽  
Vol 118 (6) ◽  
pp. 447-459 ◽  
Author(s):  
Bridgette L. Tonnsen ◽  
Svetlana V. Shinkareva ◽  
Sara C. Deal ◽  
Deborah D. Hatton ◽  
Jane E. Roberts
Keyword(s):  
Young Children ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Theoretical Models ◽  
Control Group ◽  
Heart Activity ◽  
Cross Sectional ◽  
Age Dependent ◽  
Distress Vocalizations ◽  
And Behavior

Abstract Anxiety is among the most impairing conditions associated with Fragile X syndrome (FXS) and is putatively linked to atypical physiological arousal. However, few studies have examined this association in young children with FXS. The authors examined whether patterns of arousal and behavior during an experimental stranger approach paradigm differ between a cross-sectional sample of 21 young children with FXS and 19 controls (12–58 months old). Groups did not differ in mean levels of behavioral fear. Unlike the control group, however, the FXS group demonstrated increased facial fear at older ages, as well as age-dependent changes in associations between heart activity and distress vocalizations. These findings may inform theoretical models of anxiety etiology in FXS and early detection efforts.

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 Family Environment and Behavior Problems in Children, Adolescents, and Adults with Fragile X Syndrome

2012 ◽  
Vol 117 (4) ◽  
pp. 331-346 ◽  
Author(s):  
Jan S. Greenberg ◽  
Marsha Mailick Seltzer ◽  
Jason K. Baker ◽  
Leann E. Smith ◽  
Steven F. Warren ◽  
...  
Keyword(s):  
Behavior Problems ◽  
Fragile X Syndrome ◽  
Family Environment ◽  
Fragile X ◽  
Parental Criticism ◽  
The Family ◽  
Environment And Behavior ◽  
Adolescents And Adults ◽  
The Individual ◽  
And Behavior

Abstract We examine how the family environment is associated with aspects of the Fragile X syndrome phenotype during childhood, adolescence, and adulthood. Mothers of children (n  =  48), adolescents (n  =  85), and adults (n  =  34) with Fragile X syndrome participated in a multisite study. For children and adults with Fragile X syndrome, the presence of warmth and positivity and the absence of criticism were associated with fewer behavior problems. Although a higher level of criticism was significantly associated with greater behavior problems, there were only trend-level associations between levels of warmth and positivity and behavior problems during the adolescent years. The provision of family psychoeducation programs, which can reduce parental criticism, would likely benefit both the individual with Fragile X syndrome and the family.

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