scholarly journals Implicit Discrimination of Basic Facial Expressions of Positive/Negative Emotion in Fragile X Syndrome and Autism Spectrum Disorder

2015 ◽  
Vol 120 (4) ◽  
pp. 328-345 ◽  
Author(s):  
Hayley Crawford ◽  
Joanna Moss ◽  
Giles M. Anderson ◽  
Chris Oliver ◽  
Joseph P. McCleery
Keyword(s):  
Fragile X Syndrome ◽  
Facial Expressions ◽  
Adaptive Behavior ◽  
Negative Emotion ◽  
Fragile X ◽  
Eye Gaze ◽  
Autism Spectrum ◽  
Verbal Abilities ◽  
Spectrum Disorders ◽  
Vineland Adaptive Behavior

Abstract Fragile X syndrome (FXS) and autism spectrum disorders (ASD) are characterized by impaired social functioning. We examined the spontaneous discrimination of happy and disgusted facial expressions, from neutral faces, in individuals with FXS (n  =  13, Mage  =  19.70) and ASD (n  =  15, Mage  =  11.00) matched on adaptive behavior and verbal abilities measured by the Vineland Adaptive Behavior Scale. Eye gaze to the eyes and mouth of neutral faces was also measured. Results suggest individuals with FXS and ASD distinguish facial expressions spontaneously in the same way. Individuals with FXS looked significantly less at the eye region of neutral faces than individuals with ASD. These results provide insight into similarities and differences in face processing in two neurodevelopmental disorders noted for their similarities in social behavior.

Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders

2012 ◽  
Vol 16 (1) ◽  
pp. 58-66 ◽  
Author(s):  
Rebecca Hinton ◽  
Dejan B. Budimirovic ◽  
Peter B. Marschik ◽  
Victor B. Talisa ◽  
Christa Einspieler ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Early Language ◽  
Parental Reports ◽  
Spectrum Disorders

Specification of the Neurobehavioral Phenotype in Males with Fragile X Syndrome

PEDIATRICS ◽  
1995 ◽  
Vol 95 (5) ◽  
pp. 744-752 ◽  
Author(s):  
Thomas L. Baumgardner ◽  
Allan L. Reiss ◽  
Lisa S. Freund ◽  
Michael T. Abrams
Keyword(s):  
Fragile X Syndrome ◽  
Adaptive Behavior ◽  
Fragile X ◽  
Specific Treatment ◽  
Distinct Pattern ◽  
Aberrant Behavior ◽  
Vineland Adaptive Behavior Scales ◽  
Aberrant Behavior Checklist ◽  
Symptom Pattern ◽  
Vineland Adaptive Behavior

Objective. A controlled clinical study was designed to identify the neurobehavioral profile that is specific to males with fragile X syndrome. Design. Thirty-one males with fragile X syndrome and 30 age and IQ-matched male controls were evaluated with instruments that assess multiple domains of adaptive functioning and problem behaviors. The Vineland Adaptive Behavior Scales and the Aberrant Behavior Checklist were selected for their dimensional scaling of behavioral ratings. Results. Parent and Teacher versions of the Aberrant Behavior Checklist demonstrated a profile of behaviors specific to males with fragile X syndrome characterized by significantly higher levels of hyperactivity, stereotypic movements, and unusual speech. The Vineland Adaptive Behavior Scales revealed no fragile X-specific profile of adaptive skills development. Conclusions. The distinct pattern of aberrant behaviors observed among males with fragile X emphasizes the importance of drawing subtype distinctions within the classification of individuals with mental retardation on the basis of underlying etiology. For clinical research, specifying the fragile X phenotype is a vital part in the effort to elucidate the neurodevelopmental pathways of normal behavior and psychopathology. Understanding the fragile X symptom pattern is essential for designing symptom-specific treatment interventions, as well as for research into the efficacy of interventions strategies.

scholarly journals Depletion of Mitochondrial Components from Extracellular Vesicles Secreted from Astrocytes in a Mouse Model of Fragile X Syndrome

2021 ◽  
Vol 22 (1) ◽  
pp. 410
Author(s):  
Byung Geun Ha ◽  
Jung-Yoon Heo ◽  
Yu-Jin Jang ◽  
Tae-Shin Park ◽  
Ju-Yeon Choi ◽  
...  
Keyword(s):  
Mitochondrial Dysfunction ◽  
Fragile X Syndrome ◽  
Extracellular Vesicles ◽  
Mitochondrial Membrane ◽  
Developmental Disorders ◽  
Fragile X ◽  
Autism Spectrum ◽  
Mitochondrial Transcription Factor ◽  
Spectrum Disorders ◽  
Vimentin Intermediate Filament

Mitochondrial dysfunction contributes to neurodegenerative diseases and developmental disorders such as Fragile X syndrome (FXS). The cross-talk between mitochondria and extracellular vesicles (EVs) suggests that EVs may transfer mitochondrial components as intermediators for intracellular communication under physiological and pathological conditions. In the present study, the ability of EVs to transfer mitochondrial components and their role in mitochondrial dysfunction in astrocytes were examined in the brains of Fmr1 knockout (KO) mice, a model of FXS. The amounts of mitochondrial transcription factor NRF-1, ATP synthases ATP5A and ATPB, and the mitochondrial membrane protein VDAC1 in EVs were reduced in cerebral cortex samples and astrocytes from Fmr1 KO mice. These reductions correspond to decreased mitochondrial biogenesis and transcriptional activities in Fmr1 KO brain, along with decreased mitochondrial membrane potential (MMP) with abnormal localization of vimentin intermediate filament (VIF) in Fmr1 KO astrocytes. Our results suggest that mitochondrial dysfunction in astrocytes is associated with the pathogenesis of FXS and can be monitored by depletion of components in EVs. These findings may improve the ability to diagnose developmental diseases associated with mitochondrial dysfunction, such as FXS and autism spectrum disorders (ASD).

scholarly journals Fragile X syndrome, the search for a targeted treatment

2019 ◽  
Vol 5 (1) ◽  
pp. 12
Author(s):  
Shimriet Zeidler ◽  
Rob Willemsen
Keyword(s):  
Fragile X Syndrome ◽  
Neurodevelopmental Disorders ◽  
Fragile X ◽  
Short Review ◽  
Autism Spectrum ◽  
Targeted Treatment ◽  
Adequate Treatment ◽  
Model Studies ◽  
Physical Problems ◽  
Spectrum Disorders

Fragile X syndrome (FXS), the most common monogenetic cause of intellectual disability and autism spectrum disorders, is characterized by behavioral and physical problems. There is currently no adequate treatment available. While animal model studies seemed extremely promising, no success has been achieved in the larger clinical trials with human FXS patients. This short review describes the steps that have been taken in the development of a targeted treatment for FXS. Possible reasons for the lack of translation between animal models and human FXS patients are being explored and solutions are being proposed. The FXS story illustrates pitfalls and possibilities in translational research, that might especially be applicable for other neurodevelopmental disorders as well. 

scholarly journals Do Fragile X Syndrome and Other Intellectual Disorders Converge at Aberrant Pre-mRNA Splicing?

2021 ◽  
Vol 12 ◽  
Author(s):  
Sneha Shah ◽  
Joel D. Richter
Keyword(s):  
Autism Spectrum Disorders ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Protein Product ◽  
Aberrant Splicing ◽  
Brain Transcriptome ◽  
Post Mortem Brain ◽  
Spectrum Disorders ◽  
General Translation

Fragile X Syndrome is a neuro-developmental disorder caused by the silencing of the FMR1 gene, resulting in the loss of its protein product, FMRP. FMRP binds mRNA and represses general translation in the brain. Transcriptome analysis of the Fmr1-deficient mouse hippocampus reveals widespread dysregulation of alternative splicing of pre-mRNAs. Many of these aberrant splicing changes coincide with those found in post-mortem brain tissue from individuals with autism spectrum disorders (ASDs) as well as in mouse models of intellectual disability such as PTEN hamartoma syndrome (PHTS) and Rett Syndrome (RTT). These splicing changes could result from chromatin modifications (e.g., in FXS, RTT) and/or splicing factor alterations (e.g., PTEN, autism). Based on the identities of the RNAs that are mis-spliced in these disorders, it may be that they are at least partly responsible for some shared pathophysiological conditions. The convergence of splicing aberrations among these autism spectrum disorders might be crucial to understanding their underlying cognitive impairments.

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