A5069149152- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Ubiquitin and proteasome pathways
- Family and Disability Support Research
- Child Development and Digital Technology
- Adolescent and Pediatric Healthcare
- Bipolar Disorder and Treatment
National Fragile X Foundation
2020-2024
Cincinnati Children's Hospital Medical Center
2023
Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability and autism spectrum disorder. Individuals with FXS often present a wide range cognitive deficits problem behaviors. Educational, behavioral pharmacological interventions are used to manage these other complex issues affecting individuals FXS. Despite success preclinical models early-phase drug clinical studies in FXS, large-scale randomized-controlled trials have failed meet primary endpoints. Currently, no...
Caregiver reports, clinical observations, and diagnostic assessments indicate that most individuals with fragile X syndrome experience high levels of chronic anxiety. However, anxiety is a challenging endpoint for outcome measurement in FXS because cannot reliably report internal emotional or body states. A comprehensive survey the presence, frequency, duration anxiety-related symptoms questions to elicit open-ended responses was completed by caregivers 456 FXS, ages 2–81 years (87 female,...
Treatment studies in
The pandemic caused by the spread of coronavirus disease (COVID-19), beginning in early 2020, had an impact beyond anything experienced recent history. People with Fragile X Syndrome (FXS), leading known heritable cause ASD and intellectual disability, were uniquely vulnerable to pandemic-related changes. This study surveyed parent perspectives on 33 school-aged children FXS across daily living skills, education, therapies, behaviors, health visits, mask wearing. Academic performance was...
FMR1 premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems and potentially wide range of additional mental conditions not yet well-characterised. The International Fragile X Premutation Registry (IFXPR) was developed to facilitate encourage research better understand its impact on human health, clinical...