scholarly journals The first awake simultaneous PET-MR study of an adult with fragile X syndrome: A case report

2021 ◽  
Author(s):  
Soujanya Gade ◽  
Trine Hjørnevik ◽  
Jun Hyung Park ◽  
Bin Shen ◽  
Meng Gu ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Serum Cortisol ◽  
Vineland Adaptive Behavior Scales ◽  
Cortisol Reactivity ◽  
Quantitative Pet ◽  
Observation Scale ◽  
Targeted Treatments ◽  
Dorsolateral Prefrontal

Abstract Introduction: Fragile X syndrome (FXS) is a debilitating neurogenetic disorder that can result in a multitude of impairments in cognition, memory, and learning. Case Presentation: a 25-year-old male with FXS participated in this study. The participant obtained scores in the non-spectrum range on the Autism Diagnostic Observation Scale and obtained an full scale IQ score of 57 (Verbal IQ = 23 and Nonverbal IQ = 34) on the Stanford-Binet Intelligence Scales (SB-5). On the Vineland Adaptive Behavior Scales, 2nd Edition (VABS-2) he obtained a composite score of 66. Pre-scan serum cortisol reactivity was 16.45 mcg/dL. Following a [18F]flumazenil (5mCi) intravenous bolus injection, the participant was scanned without sedation on a hybrid PET-MR system (Signa, GE Healthcare, Waukesha, WI) for 60 mins. List mode PET data, structural and diffusion MRI (DWI), and MR spectroscopy (MRS) were acquired simultaneously. Quantitative PET and DWI measures were extracted from 83 pre-defined regions of interest. MRS data was collected from two 20 cc voxels (thalamus and dorsolateral prefrontal cortex). Conclusion: This is the first study to investigate neuromolecular behavior in FXS without the use of sedation using PET-MR. Mapping the neuromolecular differences in FXS can lead to targeted treatments that can significantly improve quality of life for families and individuals with intellectual disabilities.

Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe

2016 ◽  
Vol 17 (S1) ◽  
pp. 43-52 ◽  
Author(s):  
Karine Chevreul ◽  
◽  
Coralie Gandré ◽  
Karen Berg Brigham ◽  
Julio López-Bastida ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Fragile X Syndrome ◽  
Social Economic ◽  
Fragile X ◽  
Health Related Quality ◽  
Economic Costs ◽  
Related Quality ◽  
Health Related

scholarly journals Blood-Based Biomarkers Predictive of Metformin Target Engagement in Fragile X Syndrome

2020 ◽  
Vol 10 (6) ◽  
pp. 361
Author(s):  
Mittal Jasoliya ◽  
Heather Bowling ◽  
Ignacio Cortina Petrasic ◽  
Blythe Durbin-Johnson ◽  
Eric Klann ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Drug Response ◽  
Molecular Level ◽  
Fragile X ◽  
Primary Objective ◽  
Molecular Biomarkers ◽  
Target Engagement ◽  
Targeted Treatments ◽  
Expression Abundance ◽  
Metalloproteinase 9

Recent advances in neurobiology have provided several molecular entrees for targeted treatments for Fragile X syndrome (FXS). However, the efficacy of these treatments has been demonstrated mainly in animal models and has not been consistently predictive of targeted drugs’ response in the preponderance of human clinical trials. Because of the heterogeneity of FXS at various levels, including the molecular level, phenotypic manifestation, and drug response, it is critically important to identify biomarkers that can help in patient stratification and prediction of therapeutic efficacy. The primary objective of this study was to assess the ability of molecular biomarkers to predict phenotypic subgroups, symptom severity, and treatment response to metformin in clinically treated patients with FXS. We specifically tested a triplex protein array comprising of hexokinase 1 (HK1), RAS (all isoforms), and Matrix Metalloproteinase 9 (MMP9) that we previously demonstrated were dysregulated in the FXS mouse model and in blood samples from patient with FXS. Seventeen participants with FXS, 12 males and 5 females, treated clinically with metformin were included in this study. The disruption in expression abundance of these proteins was normalized and associated with significant self-reported improvement in clinical phenotypes (CGI-I in addition to BMI) in a subset of participants with FXS. Our preliminary findings suggest that these proteins are of strong molecular relevance to the FXS pathology that could make them useful molecular biomarkers for this syndrome.

Behavioral Intervention for Problem Behavior in Children With Fragile X Syndrome

2011 ◽  
Vol 116 (6) ◽  
pp. 457-478 ◽  
Author(s):  
Lauren J Moskowitz ◽  
Edward G Carr ◽  
V. Mark Durand
Keyword(s):  
Quality Of Life ◽  
Problem Behavior ◽  
Fragile X Syndrome ◽  
Behavioral Intervention ◽  
Fragile X ◽  
Family Quality Of Life ◽  
Baseline Design ◽  
Intervention Plan ◽  
The Given

Abstract Parents and professionals typically report problem behavior as a significant concern for children with fragile X syndrome. In the present study, the authors explored whether behaviorally based interventions would result in a reduction in problem behavior and an improvement in quality of life for 3 children with fragile X syndrome and their families. A multiple baseline design was used to demonstrate intervention effects for specific high-priority contexts (i.e., bedtime, running errands, and toileting). A multicomponent intervention plan was developed to teach the parents and child to effectively cope with the particular context. After intervention, there were substantial improvements in problem behavior and family quality of life within the given contexts. Results of this study demonstrated the effectiveness of behavioral intervention for children with fragile X syndrome.

Specification of the Neurobehavioral Phenotype in Males with Fragile X Syndrome

PEDIATRICS ◽  
1995 ◽  
Vol 95 (5) ◽  
pp. 744-752 ◽  
Author(s):  
Thomas L. Baumgardner ◽  
Allan L. Reiss ◽  
Lisa S. Freund ◽  
Michael T. Abrams
Keyword(s):  
Fragile X Syndrome ◽  
Adaptive Behavior ◽  
Fragile X ◽  
Specific Treatment ◽  
Distinct Pattern ◽  
Aberrant Behavior ◽  
Vineland Adaptive Behavior Scales ◽  
Aberrant Behavior Checklist ◽  
Symptom Pattern ◽  
Vineland Adaptive Behavior

Objective. A controlled clinical study was designed to identify the neurobehavioral profile that is specific to males with fragile X syndrome. Design. Thirty-one males with fragile X syndrome and 30 age and IQ-matched male controls were evaluated with instruments that assess multiple domains of adaptive functioning and problem behaviors. The Vineland Adaptive Behavior Scales and the Aberrant Behavior Checklist were selected for their dimensional scaling of behavioral ratings. Results. Parent and Teacher versions of the Aberrant Behavior Checklist demonstrated a profile of behaviors specific to males with fragile X syndrome characterized by significantly higher levels of hyperactivity, stereotypic movements, and unusual speech. The Vineland Adaptive Behavior Scales revealed no fragile X-specific profile of adaptive skills development. Conclusions. The distinct pattern of aberrant behaviors observed among males with fragile X emphasizes the importance of drawing subtype distinctions within the classification of individuals with mental retardation on the basis of underlying etiology. For clinical research, specifying the fragile X phenotype is a vital part in the effort to elucidate the neurodevelopmental pathways of normal behavior and psychopathology. Understanding the fragile X symptom pattern is essential for designing symptom-specific treatment interventions, as well as for research into the efficacy of interventions strategies.

Targeted treatments in fragile X syndrome

2014 ◽  
Vol 2 (6) ◽  
pp. 531-543 ◽  
Author(s):  
Emma B Hare ◽  
Randi J Hagerman ◽  
Reymundo Lozano
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Targeted Treatments

scholarly journals Fragile X Syndrome-Associated Emergency Department Visits in the United States, 2006–2011

2020 ◽  
Vol 125 (2) ◽  
pp. 103-108
Author(s):  
Thuy Quynh N. Do ◽  
Catharine Riley ◽  
Pangaja Paramsothy ◽  
Lijing Ouyang ◽  
Julie Bolen ◽  
...  
Keyword(s):  
Emergency Department ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
The United States ◽  
Emergency Department Visits ◽  
Surveillance Systems ◽  
Diagnosis Code ◽  
National Data ◽  
Ed Visits

Abstract Using national data, we examined emergency department (ED) encounters during 2006–2011 for which a diagnosis code for fragile X syndrome (FXS) was present (n = 7,217). Almost half of ED visits coded for FXS resulted in hospitalization, which is much higher than for ED visits not coded for FXS. ED visits among females coded for FXS were slightly more likely to result in hospitalization. These findings underscore the importance of surveillance systems that could accurately identify individuals with FXS, track healthcare utilization and co-occurring conditions, and monitor quality of care in order to improve care and reduce FXS-associated morbidity.

scholarly journals Do Children With Fragile X Syndrome Show Declines or Plateaus in Adaptive Behavior?

2015 ◽  
Vol 120 (5) ◽  
pp. 412-432 ◽  
Author(s):  
Laura J. Hahn ◽  
Nancy C. Brady ◽  
Steven F. Warren ◽  
Kandace K. Fleming
Keyword(s):  
Fragile X Syndrome ◽  
Adaptive Behavior ◽  
Cognitive Abilities ◽  
Fragile X ◽  
Vineland Adaptive Behavior Scales ◽  
Autistic Behavior ◽  
Relationship Of ◽  
The Relationship ◽  
Autistic Behaviors ◽  
Vineland Adaptive Behavior

Abstract This study explores if children with fragile X syndrome (FXS) show advances, declines, or plateaus in adaptive behavior over time and the relationship of nonverbal cognitive abilities and autistic behavior on these trajectories. Parents of 55 children with FXS completed the Vineland Adaptive Behavior Scales (Sparrow, Balla, & Cicchetti, 1984; Sparrow, Cicchetti, & Balla, 2005) between 3 and 6 times from 2 to 10 years of age. Using raw scores, results indicate that about half of the sample showed advances in adaptive behavior, whereas the other half showed declines, indicating a regression in skills. Children who were more cognitively advanced and had less autistic behaviors had higher trajectories. Understanding the developmental course of adaptive behavior in FXS has implications for educational planning and intervention, especially for those children showing declines.

3.38 PEDIATRIC QUALITY-OF-LIFE INVENTORY IN FRAGILE X SYNDROME

2019 ◽  
Vol 58 (10) ◽  
pp. S207
Author(s):  
Sarah Fitzpatrick ◽  
Lauren Schmitt ◽  
Ryan Adams ◽  
Ernest V. Pedapati ◽  
Rebecca Shaffer ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Quality Of Life Inventory ◽  
Life Inventory
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