scholarly journals Usefulness of Automated Image Analysis for Recognition of the Fragile X Syndrome Gestalt in Congolese Subjects

2021 ◽  
Author(s):  
Toni Kasole Lubala ◽  
Tony Kayembe-Kitenge ◽  
Gerrye Mubungu ◽  
Aimé Lumaka ◽  
Gray Kanteng ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Statistical Power ◽  
Fragile X ◽  
Recognition Performance ◽  
Area Under The Curve ◽  
Clinical Results ◽  
Automated Image Analysis ◽  
Facial Region ◽  
The Face ◽  
Males And Females

Abstract Background Computer-aided software such as the facial image diagnostic aid (FIDA) and Face2Gene has been developed to perform pattern recognition of facial features with promising clinical results. The aim of this study was to test Face2Gene's recognition performance on Bantu Congolese subjects with Fragile X syndrome (FXS) as compared to Congolese subjects with intellectual disability but without FXS (non-FXS). Method Frontal facial photograph from 156 participants (14 patients with FXS and 142 controls) were uploaded. Automated face analysis was conducted by using the technology used in proprietary software tools called Face2Gene CLINIC and Face2Gene RESEARCH (version 17.6.2). To estimate the statistical power of the Face2Gene technology in distinguishing affected individuals from controls, a cross validation scheme was used. Results The similarity seen in the upper facial region (of males and females) is greater than the similarity seen in other parts of the face. Binary comparison of FXS subjects versus subjects with ID negative for Fragile X syndrome and FXS subjects versus subjects with Down syndrome reveal an area under the curve values of 0.955 (p=0.002) and 0.986 (p=0.003). Conclusion The Face2Gene algorithm is separating well between FXS and Non-FXS subjects.

scholarly journals Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome

2020 ◽  
Vol 10 (4) ◽  
pp. 239
Author(s):  
Debra L. Reisinger ◽  
Rebecca C. Shaffer ◽  
Nicole Tartaglia ◽  
Elizabeth Berry-Kravis ◽  
Craig A. Erickson
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Repetitive Behavior ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Motor Behaviors ◽  
Sensory Motor ◽  
Adolescents And Adults ◽  
Males And Females ◽  
The Impact

Restricted repetitive behaviors (RRBs) are a core area of impairment in autism spectrum disorder (ASD), but also affect several other neurodevelopmental disorders including fragile X syndrome (FXS). Current literature has begun to describe the RRB profile in FXS up through adolescence; however, little is known about the subtypes of RRBs in adolescents and adults. Further, literature on the RRB profile of females with FXS is limited. The present study examines the RRB profile across subtypes and specific items in both males and females with FXS while assessing for differences based on age, ASD diagnosis and the impact of IQ. Participants included 154 individuals with FXS (ages 2 to 50 years old). Results revealed a peak in RRB severity in FXS between 7–12 years for the majority of RRB subscales with the exception of Sensory-Motor behaviors peaking between 2 and 12 years before declining. Distinct RRB profiles in males and females with FXS emerged in addition to significant overlap among the item and subscale levels of RRBs across gender. Further, an added diagnosis of ASD significantly increased rates of RRBs across all subscale levels, but not necessarily across all items. Lastly, IQ did not solely account for the presence of RRBs in FXS, with Sensory-Motor behaviors being driven by comorbid ASD in males with FXS, and Restricted Interest behaviors being driven by comorbid ASD regardless of gender. These findings build on the current understanding of RRBs in FXS based on gender and comorbid ASD and lay important groundwork for the development of targeted behavioral and pharmacological treatments.

Folic acid treatment in males and females with fragile-(X)-syndrome

1986 ◽  
Vol 23 (1-2) ◽  
pp. 273-289 ◽  
Author(s):  
U. Froster-Iskenius ◽  
K. Bödeker ◽  
T. Oepen ◽  
R. Matthes ◽  
U. Piper ◽  
...  
Keyword(s):  
Folic Acid ◽  
Fragile X Syndrome ◽  
Acid Treatment ◽  
Fragile X ◽  
Males And Females

Functional Skills of Individuals With Fragile X Syndrome: A Lifespan Cross-Sectional Analysis

2009 ◽  
Vol 114 (4) ◽  
pp. 289-303 ◽  
Author(s):  
Donald B. Bailey ◽  
Melissa Raspa ◽  
David Holiday ◽  
Ellen Bishop ◽  
Murrey Olmsted
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Intervention Programs ◽  
Specific Intervention ◽  
Functional Skills ◽  
Cross Sectional ◽  
Complex Sentences ◽  
Female Children ◽  
Males And Females ◽  
Sectional Analysis

Abstract Parents of 1,105 male and 283 female children with fragile X syndrome described functional skill attainment in eating, dressing, toileting, bathing/hygiene, communication, articulation, and reading. The majority of adult children had mastered many skills independently. Most adults were verbal, used the toilet, dressed, ate independently, bathed, and used a towel independently. However, some skills were not as well-developed, such as using complex sentences, reading, or speaking at a typical rate. As expected, significant differences were found between males and females. The findings highlight major skill attainments, identify skills that should be the target of specific intervention programs, suggest variable trajectories to be tested more precisely through direct assessments and longitudinally, and provide baseline data for treatment studies.

Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome

2019 ◽  
Vol 50 (5) ◽  
pp. 1725-1747 ◽  
Author(s):  
Anne C. Wheeler ◽  
Amanda Wylie ◽  
Melissa Raspa ◽  
Adrienne Villagomez ◽  
Kylee Miller ◽  
...  
Keyword(s):  
Informed Consent ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Decisional Capacity ◽  
Males And Females

Obesity, Food Selectivity, and Physical Activity in Individuals With Fragile X Syndrome

2010 ◽  
Vol 115 (6) ◽  
pp. 482-495 ◽  
Author(s):  
Melissa Raspa ◽  
Donald B. Bailey ◽  
Ellen Bishop ◽  
David Holiday ◽  
Murrey Olmsted
Keyword(s):  
Physical Activity ◽  
Body Mass Index ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Food Selectivity ◽  
Behavioral Characteristics ◽  
Activity Levels ◽  
Typically Developing ◽  
Physical Activity Levels ◽  
Males And Females

Abstract National survey data from 884 families were used to examine the overall health of children and adults with fragile X syndrome. Results indicate the rate of obesity in adults with fragile X syndrome is similar to the general population (∼30%). Male children with fragile X syndrome, however, had higher rates of obesity (31%) when compared with typically developing same-aged peers (18%). Both males and females displayed food selectivity, especially with regard to texture. Physical activity levels for children were higher than for adults, but neither group met recommended levels. Several cognitive and behavioral characteristics, food selectivity, and physical activity were related to overall health and body mass index. Continued monitoring of the health status of individuals with fragile X syndrome is recommended.

scholarly journals Executive Function in Fragile X Syndrome: A Systematic Review

2019 ◽  
Vol 9 (1) ◽  
pp. 15 ◽  
Author(s):  
Lauren Schmitt ◽  
Rebecca Shaffer ◽  
David Hessl ◽  
Craig Erickson
Keyword(s):  
Systematic Review ◽  
Executive Function ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Future Studies ◽  
Behavioral Studies ◽  
Males And Females ◽  
New Treatment ◽  
Key Aspects ◽  
Goal Directed Behavior

Executive function (EF) supports goal-directed behavior and includes key aspects such as working memory, inhibitory control, cognitive flexibility, attention, processing speed, and planning. Fragile X syndrome (FXS) is the leading inherited monogenic cause of intellectual disability and is phenotypically characterized by EF deficits beyond what is expected given general cognitive impairments. Yet, a systematic review of behavioral studies using performance-based measures is needed to provide a summary of EF deficits across domains in males and females with FXS, discuss clinical and biological correlates of these EF deficits, identify critical limitations in available research, and offer suggestions for future studies in this area. Ultimately, this review aims to advance our understanding of the underlying pathophysiological mechanisms contributing to EF in FXS and to inform the development of outcome measures of EF and identification of new treatment targets in FXS.

Resilience in the Face of Fragile X Syndrome

2012 ◽  
Vol 22 (10) ◽  
pp. 1355-1368 ◽  
Author(s):  
Chantel L. Fourie ◽  
Linda C. Theron
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
The Face

scholarly journals Early negative affect in males and females with fragile X syndrome: implications for anxiety and autism

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Carla A. Wall ◽  
Abigail L. Hogan ◽  
Elizabeth A. Will ◽  
Samuel McQuillin ◽  
Bridgette L. Kelleher ◽  
...  
Keyword(s):  
Young Children ◽  
Negative Affect ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Prospective Longitudinal Study ◽  
Sex Effects ◽  
Increased Risk ◽  
Males And Females ◽  
Prospective Longitudinal

Abstract Background Fragile X syndrome (FXS) is a genetic disorder that is highly comorbid with anxiety and autism spectrum disorder (ASD). Elevated negative affect in young children has been associated with increased risk for both anxiety and ASD; however, these relations remain poorly understood in FXS. Methods The present prospective longitudinal study examined the trajectory of negative affect from infancy through preschool in males and females with FXS and typical development and its relation to anxiety and ASD. Results Results indicate a complex association reflecting group, developmental, and sex effects. Specifically, the group with FXS displayed a trajectory of increasing negative affect across age that was distinct from the typical controls. This atypical trajectory of negative affect in FXS was driven by sex effects in that males showed lower negative affect during infancy followed by steep increases across the toddler and preschool years whereas the females displayed a flatter trajectory. Finally, elevated negative affect predicted anxiety symptoms in males, but not females, with no relationship to ASD in males or females with FXS. Conclusions The current work addresses the importance of studying the development of psychopathology in a specific neurogenetic population. Temperamental negative affect was shown to be an important early marker for anxiety in young children with FXS, with subtle differences observed between males and females.

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