Research Results Roundup
We are excited to share with you some of the great research results that have been published thus far. We are committed to keeping the community up to date on research findings, taking time to reflect and celebrate successes in the field of Fragile X-associated conditions and disorders.
Researchers: If you’ve recently published your scientific findings in a peer-reviewed journal, please share your work with us by emailing research@fragilex.org.
Cheers to the amazing scientific advancements in our field and the advancements to come. It would not be possible without your dedication, passion, and drive to make each day just a bit better.
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.
Clustering of Comorbid Conditions Among Women Who Carry an FMR1 Premutation
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.
Delineating Repetitive Behavior Profiles Across the Lifespan in Fragile X Syndrome
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.
Toilet Training in Fragile X Syndrome
Research Summary // 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.
Questions?
If you have questions about anything research-related, we’d love to hear from you! You can reach out to Hilary Rosselot directly, or submit your question or comment through our contact form below.
Hilary Rosselot, Director of Research Facilitation
hilary@fragilex.org | (202) 747-6208
Last Updated: 06/04/2021