scholarly journals Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
M. Marlborough ◽  
A. Welham ◽  
C. Jones ◽  
S. Reckless ◽  
J. Moss

Abstract Background Whilst up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear. Method A systematic literature search identified papers reporting ASD prevalence and/or symptomatology in females with FXS. Results and conclusion Meta-analysis suggested that rates of ASD for females with FXS are reliably higher than for females in the general population (a random effects model estimated weighted average prevalence at 14%, 95% CI 13–18%). Whilst papers highlighted a number of social and repetitive difficulties for females with FXS, characteristic profiles of impairment are not clear. Possible associations between ASD traits and IQ, and between ASD and levels of fragile X mental retardation protein, are suggested, but data are equivocal.

2019 ◽  
Vol 9 (8) ◽  
pp. 202
Author(s):  
Daman Kumari ◽  
Inbal Gazy

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 [...]


2014 ◽  
Vol 45 (4) ◽  
pp. 1042-1061 ◽  
Author(s):  
Angela John Thurman ◽  
Andrea McDuffie ◽  
Sara T. Kover ◽  
Randi Hagerman ◽  
Marie Moore Channell ◽  
...  

2015 ◽  
Vol 58 (2) ◽  
pp. 383-395 ◽  
Author(s):  
David P. Benjamin ◽  
Andrea S. McDuffie ◽  
Angela J. Thurman ◽  
Sara T. Kover ◽  
Ann M. Mastergeorge ◽  
...  

Author(s):  
Gary E. Martin ◽  
Joanne E. Roberts ◽  
Nancy Helm-Estabrooks ◽  
John Sideris ◽  
Jacqueline Vanderbilt ◽  
...  

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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