نتایج جستجو برای: fxs

تعداد نتایج: 581  

Journal: :Biological psychiatry. Cognitive neuroscience and neuroimaging 2017
Jessica L Burris Ryan A Barry-Anwar Riley N Sims Randi J Hagerman Flora Tassone Susan M Rivera

BACKGROUND Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. FXS is caused by a silencing of the FMR1 gene that results in a loss or absence of the gene's protein product, fragile X mental retardation protein. The phenotype of FXS is consistently associated with heightened anxiety, although no previous study has investigated attentional bias toward threat, a...

Journal: :Value in Health 2022

Fragile X Syndrome (FXS) is the most common heritable cause of autism and intellectual disability. Autism Spectrum Disorder (ASD) characterized by social interaction communication impairment. Individuals with FXS ASD have greater prevalence seizures, persistence sleep problems, increased behavior problems. Examine inpatient resource utilization in FXS-diagnosed patients without ASD. Healthcare ...

Journal: :Journal of autism and developmental disorders 2015
Jessica Klusek Anna W Hunt Penny L Mirrett Deborah D Hatton Stephen R Hooper Jane E Roberts Donald B Bailey

Although reading skills are critical for the success of individuals with intellectual disabilities, literacy has received little attention in fragile X syndrome (FXS). This study examined the literacy profile of FXS. Boys with FXS (n = 51; mean age 10.2 years) and mental age-matched boys with typical development (n = 35) participated in standardized assessments of reading and phonological skill...

Journal: :The British journal of psychiatry : the journal of mental science 2015
Tamar Green Naama Barnea-Goraly Mira Raman Scott S Hall Amy A Lightbody Jennifer L Bruno Eve-Marie Quintin Allan L Reiss

BACKGROUND Fragile-X syndrome (FXS) is a neurodevelopmental disorder associated with intellectual disability and neurobiological abnormalities including white matter microstructural differences. White matter differences have been found relative to neurotypical individuals. AIMS To examine whether FXS white matter differences are related specifically to FXS or more generally to the presence of...

2016
Balmiki Ray Deborah K. Sokol Bryan Maloney Debomoy K. Lahiri

UNLABELLED Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are developmental disorders. No validated blood-based biomarkers exist for either, which impedes bench-to-bedside approaches. Amyloid-β (Aβ) precursor protein (APP) and metabolites are usually associated with Alzheimer's disease (AD). APP cleavage by α-secretase produces potentially neurotrophic secreted APPα (sAPPα) and the...

2017
Manman Niu Ying Han Angel Belle C. Dy Junbao Du Hongfang Jin Jiong Qin Jing Zhang Qinrui Li Randi J. Hagerman

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the leading monogenic cause of autism spectrum disorder. Although FXS has been studied for several decades, there is relatively little basic science or clinical research being performed on FXS in China. Indeed, there is a large gap between China and Western countries in the FXS field. China has a potentia...

Journal: :JAMA psychiatry 2013
Scott S Hall Heidi Jiang Allan L Reiss Michael D Greicius

IMPORTANCE Fragile X syndrome (FXS) is an X-linked neurogenetic disorder characterized by a cognitive and behavioral phenotype resembling features of autism spectrum disorder. Until now, research has focused largely on identifying regional differences in brain structure and function between individuals with FXS and various control groups. Very little is known about the large-scale brain network...

Journal: :Cognitive systems research 2008
Mina Johnson-Glenberg

A comparative framework of memory processes in males with fragile X syndrome (FXS) and Typically Developing (TYP) mental age-match children is presented. Results indicate a divergence in sequencing skills, such that males with FXS recall sequences similarly to TYP children around five and a half years of age, but eth males with FXS recall significantly worse when compared to TYP children around...

Journal: :Intractable & rare diseases research 2014
Tatiana M Kazdoba Prescott T Leach Jill L Silverman Jacqueline N Crawley

Fragile X Syndrome (FXS) is a commonly inherited form of intellectual disability and one of the leading genetic causes for autism spectrum disorder. Clinical symptoms of FXS can include impaired cognition, anxiety, hyperactivity, social phobia, and repetitive behaviors. FXS is caused by a CGG repeat mutation which expands a region on the X chromosome containing the FMR1 gene. In FXS, a full mut...

Journal: :American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015
Scott S Hall Michael C Frank Guido T Pusiol Faraz Farzin Amy A Lightbody Allan L Reiss

A hallmark behavioral feature of fragile X syndrome (FXS) is the propensity for individuals with the syndrome to exhibit significant impairments in social gaze during interactions with others. However, previous studies employing eye tracking methodology to investigate this phenomenon have been limited to presenting static photographs or videos of social interactions rather than employing a real...

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