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 Narrative skill in boys with fragile X syndrome with and without autism spectrum disorder

2011 ◽  
Vol 32 (2) ◽  
pp. 359-388 ◽  
Author(s):  
BRUNO ESTIGARRIBIA ◽  
GARY E. MARTIN ◽  
JOANNE E. ROBERTS ◽  
AMY SPENCER ◽  
AGNIESZKA GUCWA ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Short Term Memory ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Story Grammar ◽  
Caregiver Education ◽  
Almost All

ABSTRACTWe examined recalled narratives of boys with fragile X syndrome with autism spectrum disorder (FXS-ASD; N = 28) and without ASD (FXS-O; N = 29), and compared them to those of boys with Down syndrome (N = 33) and typically developing (TD) boys (N = 39). Narratives were scored for mentions of macrostructural story grammar elements (introduction, relationship, initiating events, internal response, attempts/actions, and ending). We found that narrative recall is predicted by short-term memory and nonverbal mental age levels in almost all groups (except TD), but not by expressive syntax or caregiver education. After adjusting for these covariates, there were no differences between the three groups with intellectual disability. The FXS-ASD group, however, had significantly poorer performance than the TD group on the overall story grammar score, and both the FXS-O and FXS-ASD groups had lower attempts/actions scores than the TD group. We conclude that some form of narrative impairment may be associated with FXS, that this impairment may be shared by other forms of intellectual disability, and that the presence of ASD has a significantly detrimental effect on narrative recall.

A Comparative Study of Sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein Taybi Syndromes and Autism Spectrum Disorder

2016 ◽  
Vol 121 (6) ◽  
pp. 465-486 ◽  
Author(s):  
Joanna Moss ◽  
Lisa Nelson ◽  
Laurie Powis ◽  
Jane Waite ◽  
Caroline Richards ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Down Syndrome ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Neurodevelopmental Disorders ◽  
Fragile X ◽  
Selective Mutism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Cornelia De Lange

Abstract Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (<12yrs; 12–18yrs; >18yrs) comparisons of SQID scores were conducted. Rates of behaviors indicative of selective mutism were also examined. Fragile X syndrome achieved the lowest SQID scores. Cornelia de Lange, ASD, and Fragile X groups scored significantly lower than Angelman, Down and Rubinstein Taybi groups. Selective mutism characteristics were highest in Cornelia de Lange (40%) followed by Fragile X (17.8%) and ASD (18.2%). Age-band differences were identified in Cornelia de Lange and Down syndrome.

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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