scholarly journals The mouse model of fragile X syndrome exhibits deficits in contagious itch behavior

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Rodrigo Gonzales-Rojas ◽  
Amtul-Noor Rana ◽  
Peter Mason ◽  
Christopher Renfro ◽  
Vallabhi Annaluru ◽  
...  
Keyword(s):  
Mouse Model ◽  
Fragile X Syndrome ◽  
Neurodevelopmental Disorders ◽  
Assessment Tool ◽  
Fragile X ◽  
Autism Spectrum ◽  
Assessment Tools ◽  
Learning Ability ◽  
Typically Developing ◽  
Spectrum Disorders

Abstract Individuals with autism spectrum disorders (ASDs) imitate observed behavior less than age-matched and typically developing peers, resulting in deterred learning ability and social interaction. However, this deficit lacks preclinical assessment tools. A previous study has shown that mice exhibit contagious itch behavior while viewing a scratching demonstrator mouse, as opposed to an ambulating demonstrator mouse, but whether autism mouse models imitate observed scratching behavior remains unknown. Here, we investigated contagious itch behavior in the mouse model of fragile X syndrome (FXS), a common form of inherited intellectual disabilities with a high risk for ASDs. We found that the mouse model of FXS shows deficits in contagious itch behavior. Our findings can be used as a new preclinical assessment tool for measuring imitative deficits in the study of neurodevelopmental disorders including FXS.

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 Attention Bias and Prodromal Anxiety Symptoms in Toddlers With Fragile X Syndrome and Down Syndrome

2021 ◽  
Vol 126 (2) ◽  
pp. 167-181
Author(s):  
Kayla Smith ◽  
Abigail L. Hogan ◽  
Elizabeth Will ◽  
Jane E. Roberts
Keyword(s):  
Down Syndrome ◽  
Fragile X Syndrome ◽  
Symptom Severity ◽  
Neurodevelopmental Disorders ◽  
Fragile X ◽  
Autism Spectrum ◽  
Behavioral Risk ◽  
Typically Developing ◽  
Attentional Avoidance ◽  
Underlying Mechanisms

Abstract Early identification of behavioral risk markers for anxiety is essential to optimize long-term outcomes in children with neurodevelopmental disorders. This study analyzed attentional avoidance and its relation to anxiety and autism spectrum disorder (ASD) symptomatology during social and nonsocial fear conditions in toddlers with fragile X syndrome (FXS) and Down syndrome (DS). Toddlers with FXS and DS exhibited increased nonsocial attentional avoidance relative to typically developing (TD) toddlers. Attentional avoidance was not related to anxiety symptom severity in any group; however, higher ASD symptom severity was related to more social attentional avoidance in the FXS and TD groups. Findings suggest that there may be different underlying mechanisms driving attentional avoidance across neurodevelopmental disorders.

scholarly journals Abnormal development of auditory responses in the inferior colliculus of a mouse model of Fragile X Syndrome

2020 ◽  
Vol 123 (6) ◽  
pp. 2101-2121 ◽  
Author(s):  
Anna O. Nguyen ◽  
Devin K. Binder ◽  
Iryna M. Ethell ◽  
Khaleel A. Razak
Keyword(s):  
Mouse Model ◽  
Inferior Colliculus ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Abnormal Development ◽  
Sensory Sensitivity ◽  
Auditory Responses ◽  
Underlying Mechanisms ◽  
Early Developmental

Autism spectrum disorders (ASD) are commonly associated with sensory sensitivity issues, but the underlying mechanisms are unclear. This study presents novel evidence for neural correlates of auditory hypersensitivity in the developing inferior colliculus (IC) in the Fmr1 knockout (KO) mouse, a mouse model of Fragile X Syndrome (FXS), a leading genetic cause of ASD. Responses begin to show genotype differences between postnatal days 14 and 21, suggesting an early developmental treatment window.

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

scholarly journals Perseveration in the Connected Speech of Boys with Fragile X Syndrome with and Without Autism Spectrum Disorder

2012 ◽  
Vol 117 (5) ◽  
pp. 384-399 ◽  
Author(s):  
Gary E. Martin ◽  
Joanne E. Roberts ◽  
Nancy Helm-Estabrooks ◽  
John Sideris ◽  
Jacqueline Vanderbilt ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Interaction ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Typically Developing ◽  
Connected Speech ◽  
Language Sampling ◽  
Language Characteristic

Abstract Verbal perseveration is a frequently reported language characteristic of males with Fragile X syndrome and may be a defining feature or hallmark of the syndrome. We compared the verbal perseveration of boys with Fragile X syndrome with (n  =  29) and without (n  =  30) autism spectrum disorder, boys with Down syndrome (n  =  27), and typically developing boys (n  =  25) at similar nonverbal mental ages. During a social interaction, boys with both Fragile X syndrome and autism spectrum disorder produced significantly more topic perseveration than all other groups. In social interaction as compared to narration, boys with Fragile X syndrome (regardless of autism status) produced significantly more topic perseveration. These findings suggest that autism status, as well as language sampling context, affect perseveration in boys with Fragile X syndrome.

scholarly journals A comparison of family financial and employment impacts of fragile X syndrome, autism spectrum disorders, and intellectual disability

2014 ◽  
Vol 35 (7) ◽  
pp. 1518-1527 ◽  
Author(s):  
Lijing Ouyang ◽  
Scott D. Grosse ◽  
Catharine Riley ◽  
Julie Bolen ◽  
Ellen Bishop ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorders ◽  
Employment Impacts

scholarly journals Restoration of FMRP expression in adult V1 neurons rescues visual deficits in a mouse model of fragile X syndrome

2021 ◽  
Author(s):  
Chaojuan Yang ◽  
Yonglu Tian ◽  
Feng Su ◽  
Yangzhen Wang ◽  
Mengna Liu ◽  
...  
Keyword(s):  
Mouse Model ◽  
Fragile X Syndrome ◽  
Visual Processing ◽  
Fragile X ◽  
Autism Spectrum ◽  
Inhibitory Neurons ◽  
Local Network ◽  
V1 Neurons ◽  
Processing Deficits

AbstractMany people affected by fragile X syndrome (FXS) and autism spectrum disorders have sensory processing deficits, such as hypersensitivity to auditory, tactile, and visual stimuli. Like FXS in humans, loss of Fmr1 in rodents also cause sensory, behavioral, and cognitive deficits. However, the neural mechanisms underlying sensory impairment, especially vision impairment, remain unclear. It remains elusive whether the visual processing deficits originate from corrupted inputs, impaired perception in the primary sensory cortex, or altered integration in the higher cortex, and there is no effective treatment. In this study, we used a genetic knockout mouse model (Fmr1KO), in vivo imaging, and behavioral measurements to show that the loss of Fmr1 impaired signal processing in the primary visual cortex (V1). Specifically, Fmr1KO mice showed enhanced responses to low-intensity stimuli but normal responses to high-intensity stimuli. This abnormality was accompanied by enhancements in local network connectivity in V1 microcircuits and increased dendritic complexity of V1 neurons. These effects were ameliorated by the acute application of GABAA receptor activators, which enhanced the activity of inhibitory neurons, or by reintroducing Fmr1 gene expression in knockout V1 neurons in both juvenile and young-adult mice. Overall, V1 plays an important role in the visual abnormalities of Fmr1KO mice and it could be possible to rescue the sensory disturbances in developed FXS and autism patients.

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