This study is important for later-diagnosed individuals as it creates successful predictive models that can identify cases five years earlier than clinical diagnosis.
Data from 8 unique studies speaks to the necessity of early identification of FXS, which leads to earlier, effective medical and non-medical interventions.
Cortical Gyrification and Its Relationships With Molecular Measures and Cognition in Children With the FMR1 Premutation
Jun Yi Wang and the study team out of the UC Davis MIND Institute are interested in learning more about the premutation carrier condition in relations to brain development and its impact on cognition. These mental processes impact the higher-level functions of the brain including language, learning new things, and making decisions.
Telehealth-Enabled Behavioral Treatment for Problem Behaviors in Boys With Fragile X Syndrome: A Randomized Controlled Trial
Dr. Hall and his team at Stanford University are learning about potential behavioral treatments for problem behaviors. Previous research suggests that problem behaviors, like aggression, self-injury, and property destruction, may occur at higher rates in individuals with FXS.
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
We know that FMRP is expressed throughout our body, including our blood, tissues, and brain. Levels of FMRP in the blood of patients with FXS have been positively correlated with cognitive performance, specifically intelligence quotient and adaptive behavior.
RESEARCH RESULTS ROUNDUP — The authors sought to clarify how often other health-related conditions, such as migraines and sleep problems, occur among women with a premutation.
Cerebellar-Cortical Function and Connectivity during Sensorimotor Behavior in Aging FMR1 Gene Premutation Carriers
RESEARCH RESULTS ROUNDUP — Investigation into how aging as a premutation carrier of the FMR1 gene may affect sensorimotor (exactly as it sounds, both sensory and motor) brain systems.
Inhibition Deficits Are Modulated by Age and CGG Repeat Length in Carriers of the FMR1 Premutation Allele Who Are Mothers of Children with Fragile X Syndrome
RESEARCH RESULTS ROUNDUP — Older mothers of children with Fragile X syndrome who have mid-range CGG repeats (~80–100) may be at increased risk for difficulties with inhibition.
Language Across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment
RESEARCH RESULTS ROUNDUP — Describe cognition and language in FXS using the data from a large group, while trying to understand if the standard assessments are feasible (able to be done accurately) and valid (reflect reality) in FXS and then compared the assessment results to caregiver report.
RESEARCH RESULTS ROUNDUP — What restricted and repetitive behaviors looked like in 154 individuals with FXS, 2–50 years old, based on age, ASD diagnosis, and IQ score.
Pharmacologic Interventions for Irritability, Aggression, Agitation, and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis
RESEARCH RESULTS ROUNDUP — The psychopharmacologic management of irritability, agitation, aggression, and self-injurious behaviors and drug therapy treatment.
RESEARCH RESULTS ROUNDUP — FORWARD data on 633 individuals with FXS filled the gap for much needed information on when children with FXS learn bladder and bowel toileting skills.
RESEARCH RESULTS ROUNDUP — This research can help identify preventive care services that patients with FXS may need and focus on reaching recommended preventative care objectives.
RESEARCH RESULTS ROUNDUP — Researchers have updated and validated a series of tests within the NIH Toolbox (NIHTB) to assess cognition in people with intellectual disability.
Controlled Trial of Lovastatin Combined With an Open-Label Treatment of a Parent-Implemented Language Intervention in Youth With Fragile X Syndrome
RESEARCH RESULTS ROUNDUP — Controlled trial explores whether the combined lovastatin/behavioral therapy approach would be more effective than just behavioral therapy alone.