scholarly journals Bullying Victimization in Young Females with Fragile-X-Syndrome

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 1069
Author(s):  
Lorena Joga-Elvira ◽  
Carlos Jacas ◽  
María-Luisa Joga ◽  
Ana Roche-Martínez ◽  
Carme Brun-Gasca

The aim of this study is to investigate the risk associated with girls with fragile X syndrome (FXS) suffering bullying in the role of a victim and its effects on their adaptive behavior, socialization style, and emotional state. A neuropsychological assessment was carried out on a sample of 40 participants (26 FXS positive and 14 control group) using the following instruments: WISC-V, SENA, BAS-2, ABAS-II. The results show that the group of girls with FXS presented higher ratios of lack of social support and isolation from classmates. This finding suggests that problems with social interaction and communication in the group of girls with FXS could lead to difficulties in interpreting social signals and identifying situations of bullying correctly, placing them in a very vulnerable situation.

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1108
Author(s):  
Lorena Joga-Elvira ◽  
Jennifer Martinez-Olmo ◽  
María-Luisa Joga ◽  
Carlos Jacas ◽  
Ana Roche-Martínez ◽  
...  

The aim of this research is to analyze the relationship between executive functions and adaptive behavior in girls with Fragile X syndrome (FXS) in the school setting. This study is part of a larger investigation conducted at the Hospital Parc Tauli in Sabadell. The sample consists of a total of 40 girls (26 with FXS and 14 control) aged 7–16 years, who were administered different neuropsychological tests (WISC-V, NEPSY-II, WCST, TOL) and questionnaires answered by teachers (ABAS-II, BRIEF 2, ADHD Rating Scale). The results show that there is a greater interaction between some areas of executive function (cognitive flexibility, auditory attention, and visual abstraction capacity) and certain areas of adaptive behavior (conceptual, practical, social, and total domains) in the FXS group than in the control group. These results suggest that an alteration in the executive functions was affecting the daily functioning of the girls with FXS to a greater extent.


Author(s):  
Lorena Joga‐Elvira ◽  
Ana Roche‐Martínez ◽  
María‐Luisa Joga ◽  
Carlos Jacas‐Escarcelle ◽  
Carme Brun‐Gasca

2007 ◽  
Vol 7 ◽  
pp. 146-154 ◽  
Author(s):  
Abrar Qurashi ◽  
Shuang Chang ◽  
Peng Jin

Deficits in cognitive functions lead to mental retardation (MR). Understanding the genetic basis of inherited MR has provided insights into the pathogenesis of MR. Fragile X syndrome is one of the most common forms of inherited MR, caused by the loss of functional Fragile X Mental Retardation Protein (FMRP).MicroRNAs (miRNAs) are endogenous, single-stranded RNAs between 18 and 25 nucleotides in length, which have been implicated in diversified biological pathways. Recent studies have linked the miRNA pathway to fragile X syndrome. Here we review the role of the miRNA pathway in fragile X syndrome and discuss its implication in MR in general.


2016 ◽  
Vol 63 ◽  
pp. 120-127 ◽  
Author(s):  
Faye Mishna ◽  
Mona Khoury-Kassabri ◽  
Kaitlin Schwan ◽  
Judith Wiener ◽  
Wendy Craig ◽  
...  

Author(s):  
Andrea McDuffie ◽  
Leonard Abbeduto ◽  
Pamela Lewis ◽  
Sara Kover ◽  
Jee-Seon Kim ◽  
...  

Abstract The Autism Diagnostic Interview-Revised (ADI-R) was used to examine diagnostic profiles and age-related changes in autism symptoms for a group of verbal children and adolescents who had fragile X syndrome, with and without autism. After controlling for nonverbal IQ, we found statistically significant between-group differences for lifetime and current autism symptoms for the Communication and Restricted Interests/Repetitive Behaviors domains, but not the Reciprocal Social Interaction domain. Effect sizes for differences in Reciprocal Social Interaction also were smaller than effect sizes for the other domains, with one exception. Overall, severity of autism symptoms improved with age for all participants, with the least improvement noted for Restricted Interests and Repetitive Behaviors. FMRP did not account for unique variance in autism symptoms over and above nonverbal IQ.


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.


2000 ◽  
Vol 11 (2) ◽  
pp. 106-111 ◽  
Author(s):  
Adam K. Anderson ◽  
Elizabeth A. Phelps

A growing body of evidence from humans and other animals suggests the amygdala may be a critical neural substrate for emotional processing. In particular, recent studies have shown that damage to the human amygdala impairs the normal appraisal of social signals of emotion, primarily those of fear. However, effective social communication depends on both the ability to receive (emotional appraisal) and the ability to send (emotional expression) signals of emotional state. Although the role of the amygdala in the appraisal of emotion is well established, its importance for the production of emotional expressions is unknown. We report a case study of a patient with bilateral amygdaloid damage who, despite a severe deficit in interpreting facial expressions of emotion including fear, exhibits an intact ability to express this and other basic emotions. This dissociation suggests that a single neural module does not support all aspects of the social communication of emotional state.


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