Putting Into Perspective the Use of the Fmr1 Knockout Mouse as a Model for Autism Spectrum Disorder

2013 ◽  
Author(s):  
Richard Paylor ◽  
Alexia M. Thomas ◽  
Surabi Veeraragavan ◽  
Corinne M. Spencer
Keyword(s):  
Autism Spectrum Disorder ◽  
Developmental Delay ◽  
Fragile X Syndrome ◽  
Knockout Mouse ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Fmr1 Gene ◽  
Not Otherwise Specified ◽  
Fmr1 Knockout Mouse

Chapter 7 is concerned with the presence of autism spectrum disorder (ASD) in individuals with Fragile X Syndrome (FXS). It is estimated that 21–50% of individuals with FXS meet the criteria for autism or autism with pervasive developmental delay not otherwise specified. Importantly, recent findings indicate that approximately 2–6% of individuals with ASDs have a mutation in the FMR1 gene, making it one of the most significant single genes associated with the presence of ASD.

scholarly journals Towards Mechanism-Based Treatments for Fragile X Syndrome

2019 ◽  
Vol 9 (8) ◽  
pp. 202
Author(s):  
Daman Kumari ◽  
Inbal Gazy
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder

Fragile X syndrome (FXS) is the most common heritable form of intellectual disability, as well as the most common known monogenic cause of autism spectrum disorder (ASD), affecting 1 in 4000–8000 people worldwide [...]

scholarly journals Use of Emotional Cues for Lexical Learning: A Comparison of Autism Spectrum Disorder and Fragile X Syndrome

2014 ◽  
Vol 45 (4) ◽  
pp. 1042-1061 ◽  
Author(s):  
Angela John Thurman ◽  
Andrea McDuffie ◽  
Sara T. Kover ◽  
Randi Hagerman ◽  
Marie Moore Channell ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Emotional Cues ◽  
Lexical Learning

scholarly journals Effect of Speaker Gaze on Word Learning in Fragile X Syndrome: A Comparison With Nonsyndromic Autism Spectrum Disorder

2015 ◽  
Vol 58 (2) ◽  
pp. 383-395 ◽  
Author(s):  
David P. Benjamin ◽  
Andrea S. McDuffie ◽  
Angela J. Thurman ◽  
Sara T. Kover ◽  
Ann M. Mastergeorge ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Fragile X Syndrome ◽  
Word Learning ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder

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.

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